Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	189
Gene name	Alanine--glyoxylate aminotransferase
Gene symbol	AGXT
Synonyms (NCBI Gene)	AGTAGT1AGXT1PH1SPATSPTSer-PyrATTLH6
Chromosome	2
Chromosome location	2q37.3
Summary	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type

174

Show/Hide all (174)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34116584	C>A,G,T	Likely-benign, likely-pathogenic, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs61729604	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs111742810	T>A	Pathogenic	Splice donor variant
rs111996685	G>A,C	Pathogenic	Splice donor variant
rs112673831	G>A,C,T	Likely-pathogenic	Splice acceptor variant
rs113681235	T>A,G	Pathogenic	Splice donor variant
rs121908520	T>C	Pathogenic	Coding sequence variant, missense variant
rs121908521	C>G,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121908522	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs121908523	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908524	T>A	Pathogenic	Coding sequence variant, missense variant
rs121908525	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908526	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908527	G>A,C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908528	G>A	Pathogenic	Stop gained, coding sequence variant
rs121908529	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908530	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs138025751	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs138584408	T>C	Pathogenic-likely-pathogenic	Initiator codon variant, missense variant
rs180177155	T>A	Pathogenic	Missense variant, coding sequence variant
rs180177156	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177157	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177158	G>A	Pathogenic	Splice donor variant
rs180177160	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177161	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs180177162	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177163	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177164	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177165	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177166	->CA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs180177168	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177170	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177171	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs180177172	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs180177173	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs180177177	G>A	Pathogenic	Splice acceptor variant
rs180177180	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs180177181	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177182	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177183	->TCACACT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs180177184	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177185	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177186	A>G	Pathogenic	Missense variant, coding sequence variant
rs180177187	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177189	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177190	->GAG	Pathogenic	Inframe insertion, coding sequence variant
rs180177191	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs180177193	->TCCTGGTTG	Pathogenic	Inframe insertion, coding sequence variant
rs180177194	TG>AT	Pathogenic	Missense variant, initiator codon variant
rs180177195	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs180177196	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177197	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177198	G>A	Pathogenic	Stop gained, coding sequence variant
rs180177199	G>T	Pathogenic	Missense variant, coding sequence variant
rs180177200	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177201	CC>-,C,CCC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs180177202	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs180177203	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs180177207	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs180177208	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177210	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177211	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs180177213	G>T	Pathogenic	Missense variant, initiator codon variant
rs180177214	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177215	TGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs180177217	G>C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs180177219	A>G	Pathogenic	Splice acceptor variant
rs180177220	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177221	GCTGCTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177222	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177223	T>G	Pathogenic	Missense variant, coding sequence variant
rs180177224	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177225	C>A,T	Pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs180177227	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177230	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs180177231	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177232	C>A,G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, synonymous variant
rs180177233	CC>GA	Pathogenic	Missense variant, coding sequence variant
rs180177234	G>A	Pathogenic	Splice acceptor variant
rs180177235	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs180177236	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177237	CATCCC>ATCGGT	Pathogenic	Missense variant, coding sequence variant
rs180177238	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177239	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs180177240	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177241	C>-,CC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs180177243	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs180177244	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs180177245	A>G	Pathogenic	Splice acceptor variant
rs180177246	C>A	Pathogenic	Missense variant, coding sequence variant
rs180177247	C>A	Pathogenic	Stop gained, coding sequence variant
rs180177248	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177250	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177251	TCCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177252	G>A	Pathogenic	Missense variant, coding sequence variant
rs180177253	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs180177254	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177255	AAGT>-	Pathogenic	Coding sequence variant, splice donor variant
rs180177256	G>C	Pathogenic	Intron variant
rs180177257	->T	Pathogenic	Frameshift variant, coding sequence variant
rs180177258	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177259	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs180177261	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177262	T>G	Pathogenic	Missense variant, coding sequence variant
rs180177263	G>A	Pathogenic	Stop gained, coding sequence variant
rs180177264	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177265	G>A,C	Pathogenic	Splice donor variant
rs180177267	G>C	Pathogenic-likely-pathogenic	Splice acceptor variant
rs180177268	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177269	T>A	Pathogenic	Missense variant, coding sequence variant
rs180177270	CATCA>ACAATCTCAG	Pathogenic	Frameshift variant, coding sequence variant
rs180177271	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177272	A>C	Pathogenic	Missense variant, coding sequence variant
rs180177273	AG>-,AGAG	Pathogenic	Frameshift variant, coding sequence variant
rs180177275	->A	Pathogenic	Frameshift variant, coding sequence variant
rs180177276	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177278	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177279	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs180177281	G>A,T	Pathogenic	Splice donor variant
rs180177284	G>C	Pathogenic	Missense variant, coding sequence variant
rs180177285	G>C	Likely-pathogenic	Splice acceptor variant
rs180177286	C>A,G,T	Pathogenic	Intron variant
rs180177287	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177288	G>T	Pathogenic	Stop gained, coding sequence variant
rs180177289	GC>CG	Pathogenic	Missense variant, coding sequence variant
rs180177291	GCG>-	Pathogenic	Inframe deletion, coding sequence variant
rs180177292	T>C,G	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs180177293	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177294	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs180177295	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177296	C>T	Pathogenic	Stop gained, coding sequence variant
rs180177297	G>T	Pathogenic	Splice donor variant
rs180177298	G>A,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs180177299	C>T	Pathogenic	Missense variant, coding sequence variant
rs180177300	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs180177301	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs180177302	CTGGCT>-	Pathogenic	Inframe indel, coding sequence variant
rs180177303	A>C,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs369664123	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs376844297	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs536352238	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs569643246	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs756437332	C>G,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs767586362	G>A	Pathogenic	Coding sequence variant, missense variant
rs786204545	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs796052057	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs796052058	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052059	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052060	G>T	Pathogenic	Coding sequence variant, missense variant
rs796052061	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052062	G>A	Pathogenic	Coding sequence variant, missense variant
rs796052063	T>C	Pathogenic	Coding sequence variant, missense variant
rs796052064	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs796052065	G>A	Pathogenic	Coding sequence variant, missense variant
rs796052066	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052067	G>T	Pathogenic	Splice donor variant
rs796052068	A>G	Pathogenic	Splice acceptor variant
rs796052069	->A	Pathogenic	Frameshift variant, coding sequence variant
rs796052070	GGAGCCCGAGTGCACCCGATGACCA>-	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs796052071	CCT>-	Pathogenic	Coding sequence variant, inframe deletion
rs796052072	TG>AA	Pathogenic	Coding sequence variant, missense variant
rs796052073	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs796052074	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052075	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057516896	AAGG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553648488	->CTGCA	Pathogenic	Frameshift variant, coding sequence variant
rs1553648493	G>A	Likely-pathogenic	Splice donor variant
rs1553648568	T>A	Likely-pathogenic	Splice donor variant
rs1553648931	CCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGA	Pathogenic	Splice donor variant, intron variant, coding sequence variant, splice acceptor variant
rs1553648979	AGA>-,AGAAGA	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs1553649007	T>G	Likely-pathogenic	Splice donor variant
rs1553649375	AG>-	Likely-pathogenic	Splice acceptor variant
rs1575707182	C>T	Pathogenic	Stop gained, coding sequence variant
rs1575711244	G>T	Pathogenic	Stop gained, coding sequence variant

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT459357	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT459356	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT459355	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT459354	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT459353	hsa-miR-3926	PAR-CLIP	23592263
MIRT459351	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT459352	hsa-miR-548s	PAR-CLIP	23592263
MIRT459355	hsa-miR-3190-5p	PAR-CLIP	27292025
MIRT459351	hsa-miR-3606-5p	PAR-CLIP	27292025
MIRT459353	hsa-miR-3926	PAR-CLIP	27292025
MIRT459354	hsa-miR-4786-5p	PAR-CLIP	27292025
MIRT459352	hsa-miR-548s	PAR-CLIP	27292025
MIRT459357	hsa-miR-6771-3p	PAR-CLIP	27292025
MIRT459356	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT459357	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT459356	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT459355	hsa-miR-3190-5p	PAR-CLIP	23592263
MIRT459354	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT459353	hsa-miR-3926	PAR-CLIP	23592263
MIRT459351	hsa-miR-3606-5p	PAR-CLIP	23592263
MIRT459352	hsa-miR-548s	PAR-CLIP	23592263

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004760	Function	L-serine-pyruvate transaminase activity	IBA
GO:0004760	Function	L-serine-pyruvate transaminase activity	IDA	10347152
GO:0004760	Function	L-serine-pyruvate transaminase activity	IEA
GO:0005515	Function	Protein binding	IPI	15911627, 22529745, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	1703535, 3709805, 7813517, 9053548, 10960483, 12777626
GO:0005777	Component	Peroxisome	IEA
GO:0005782	Component	Peroxisomal matrix	IDA	3418107, 22198249
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006563	Process	L-serine metabolic process	IDA	10347152
GO:0007219	Process	Notch signaling pathway	IEA
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IBA
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IDA	10960483, 16971151, 17696873, 18492492, 22198249
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IEA
GO:0008453	Function	Alanine-glyoxylate transaminase activity	IMP	12777626
GO:0008453	Function	Alanine-glyoxylate transaminase activity	TAS	2363689
GO:0008483	Function	Transaminase activity	IDA	18492492, 20133649
GO:0008483	Function	Transaminase activity	IEA
GO:0009436	Process	Glyoxylate catabolic process	IDA	22198249
GO:0016597	Function	Amino acid binding	IDA	18492492
GO:0016740	Function	Transferase activity	IEA
GO:0019265	Process	Glycine biosynthetic process, by transamination of glyoxylate	IBA
GO:0019265	Process	Glycine biosynthetic process, by transamination of glyoxylate	IDA	22198249
GO:0019448	Process	L-cysteine catabolic process	IDA	18492492
GO:0030170	Function	Pyridoxal phosphate binding	IDA	17696873, 20133649
GO:0030170	Function	Pyridoxal phosphate binding	IMP	15802217
GO:0042802	Function	Identical protein binding	IPI	12899834, 22529745, 32296183
GO:0042803	Function	Protein homodimerization activity	IDA	10960483, 12777626, 12899834, 16971151, 20133649
GO:0042853	Process	L-alanine catabolic process	IDA	17696873, 18492492, 22198249
GO:0046487	Process	Glyoxylate metabolic process	IDA	12777626
GO:0046487	Process	Glyoxylate metabolic process	IEA
GO:0046487	Process	Glyoxylate metabolic process	IMP	3709805
GO:0046724	Process	Oxalic acid secretion	IEA

MIM	HGNC	e!Ensembl
604285	341	ENSG00000172482

P21549

Protein name

Alanine--glyoxylate aminotransferase (AGT) (EC 2.6.1.44) (Serine--pyruvate aminotransferase) (SPT) (EC 2.6.1.51)

Protein function

Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification (PubMed:10960483, PubMed:12777626, PubMed:23229545, PubMed:24055001, PubMed:26149463). Also catalyzes the tr

PDB

1H0C , 1J04 , 2YOB , 3R9A , 4CBR , 4CBS , 4I8A , 4KXK , 4KYO , 5F9S , 5HHY , 5LUC , 5OFY , 5OG0 , 6RV0 , 6RV1 , 7NS7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00266	Aminotran_5	23 → 376	Aminotransferase class-V	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver.

Sequence

MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEI
KEGIQYVFQTRNPLTLVISGSGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIGERIG
ARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESSTGVLQPLDGFGELCHRYKCLL
LVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKTKPFSF
YLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHG
RLQALGLQLFVKDPALRLPTVTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLGPSTGKVLR
IGLLGCNATRENVDRVTEALRAALQHCPKKKL

Sequence length

392

Interactions

View interactions

628

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs180177207	RCV001814082
AGXT-related disorder	Pathogenic; Likely pathogenic	rs180177201, rs180177197, rs180177286, rs121908525, rs121908529	RCV003415938 RCV003895168 RCV004755785 RCV004755796 RCV003407286 RCV003407388
Alanine glyoxylate aminotransferase deficiency	Pathogenic	rs180177201	RCV003993816
Cardiac arrhythmia	Likely pathogenic	rs180177272	RCV004539733
Hyperoxaluria	Pathogenic	rs121908530	RCV004798718
Nephrocalcinosis	Pathogenic; Likely pathogenic	rs180177227, rs121908523, rs121908525, rs180177161	RCV000662317 RCV000662315 RCV000662316 RCV000662314
Nephrolithiasis	Pathogenic; Likely pathogenic	rs180177227, rs121908523, rs121908525, rs180177161	RCV000662317 RCV000662315 RCV000662316 RCV000662314
Nephrotic syndrome	Likely pathogenic; Pathogenic	rs2106431706, rs180177201	RCV001849883 RCV001849312
Primary hyperoxaluria	Pathogenic; Likely pathogenic	rs180177201, rs180177238, rs180177267, rs180177301, rs180177156, rs138584408, rs34116584, rs180177166, rs180177171, rs180177181, rs180177184, rs180177186, rs180177202, rs796052061, rs180177221 View all (22 more)	RCV000779688 RCV003317095 RCV001192774 RCV001194150 RCV001328354 RCV001328117 RCV004700566 RCV001553704 RCV001175458 RCV001174889 RCV004689661 RCV002271450 RCV004700567 RCV003330550 RCV004586609 RCV001192773 RCV003226241 RCV001192775 RCV001824668 RCV001844078 RCV001192772 RCV002307437 RCV003330551 RCV005892154 RCV004525892 RCV000780823 RCV002307438 RCV001269136 RCV004800324 RCV003234894 RCV002509145 RCV000779687 RCV000586265 RCV005237354 RCV002265548 RCV003230866 RCV003324165 RCV005419633 RCV004701090 RCV000589490
Primary hyperoxaluria, type I	Pathogenic; Likely pathogenic	rs2106428645, rs1304689724, rs2106430924, rs2106429906, rs113879010, rs767607960, rs180177297, rs180177201, rs180177238, rs2106427288, rs2528749898, rs2106429448, rs2528749663, rs2528740086, rs2528740277 View all (224 more)	RCV004759721 RCV001785899 RCV001785901 RCV001801326 RCV003470988 RCV004763286 RCV004571733 RCV000128800 RCV000128801 RCV002225245 RCV002308085 RCV002308178 RCV002308247 RCV002309187 RCV002309285 RCV002309366 RCV002307262 RCV002310460 RCV000169102 RCV000169332 RCV000169364 RCV000169219 RCV000169249 RCV000169408 RCV000169046 RCV000169358 RCV000169425 RCV000169258 RCV000169101 RCV000169587 RCV000169365 RCV003465952 RCV003475507 RCV003466000 RCV004572813 RCV002512430 RCV000186271 RCV000186379 RCV000186272 RCV000186274 RCV000186275 RCV000186380 RCV000186276 RCV000186277 RCV000186381 RCV000186278 RCV000186382 RCV000186280 RCV000186383 RCV000186281 RCV000186282 RCV000186370 RCV000186285 RCV000186286 RCV000186287 RCV000186384 RCV000186385 RCV000186288 RCV000186289 RCV000186290 RCV000186291 RCV000186292 RCV000186386 RCV000186293 RCV003445720 RCV000186294 RCV000186295 RCV000186296 RCV000186389 RCV000186297 RCV000186298 RCV000186299 RCV000186300 RCV000186302 RCV000186358 RCV000186359 RCV000186390 RCV000186303 RCV000186304 RCV000186305 RCV000186391 RCV000186306 RCV000186371 RCV000186393 RCV000186392 RCV000186307 RCV000186308 RCV000186394 RCV000186310 RCV000186309 RCV000186311 RCV000186312 RCV000186314 RCV000186315 RCV000186395 RCV000186372 RCV000186316 RCV000186317 RCV000186396 RCV000186397 RCV000186398 RCV000186399 RCV000186318 RCV000186319 RCV000186320 RCV000186373 RCV000186321 RCV000186322 RCV000186323 RCV000186325 RCV000186324 RCV000186326 RCV000186400 RCV000186327 RCV000186328 RCV000186361 RCV000186360 RCV000186362 RCV000186363 RCV000186403 RCV000186329 RCV000186404 RCV000186330 RCV000186405 RCV000186406 RCV000186331 RCV000186332 RCV000186364 RCV000186365 RCV000186374 RCV000186333 RCV000186407 RCV000186334 RCV000186336 RCV000186408 RCV000186410 RCV000186337 RCV000186367 RCV000186366 RCV000186376 RCV000186375 RCV000186339 RCV000186340 RCV000186342 RCV000186343 RCV000186344 RCV000186414 RCV000186345 RCV000186368 RCV000186378 RCV000186377 RCV000186346 RCV000186347 RCV000186415 RCV000186416 RCV000186417 RCV000186348 RCV000186349 RCV000186350 RCV000186351 RCV000186352 RCV000186369 RCV000186353 RCV000186354 RCV000186355 RCV000186419 RCV000186356 RCV000186402 RCV000186412 RCV000005994 RCV000005996 RCV000005997 RCV000005998 RCV000005999 RCV000006000 RCV000006001 RCV000006002 RCV000006003 RCV000006004 RCV003464622 RCV003340894 RCV003445256 RCV003445257 RCV003445259 RCV003445260 RCV003445261 RCV003445264 RCV003445266 RCV003445267 RCV003445269 RCV003445270 RCV003445272 RCV003445273 RCV003445274 RCV003445276 RCV003445278 RCV003467914 RCV003467925 RCV003475609 RCV003476362 RCV003467992 RCV003468000 RCV003468010 RCV003448955 RCV003448956 RCV003448957 RCV003448958 RCV003448959 RCV003448960 RCV003448966 RCV003448967 RCV003448968 RCV003448971 RCV003448972 RCV003468677 RCV003468678 RCV003468680 RCV003468681 RCV003468682 RCV003468683 RCV003468685 RCV003468687 RCV003468688 RCV003468689 RCV003468690 RCV003468691 RCV003468692 RCV003468693 RCV003468694 RCV003468696 RCV003468697 RCV003468698 RCV003468699 RCV003468700 RCV003468701 RCV003468702 RCV003468703 RCV003468704 RCV003468705 RCV003468706 RCV003468707 RCV003468709 RCV003468710 RCV003468711 RCV003468712 RCV003468714 RCV003468717 RCV003468719 RCV004574233 RCV000410991 RCV000032681 RCV000666434 RCV000671808 RCV000669926 RCV000666318 RCV000668336 RCV000674790 RCV000673401 RCV000668762 RCV000674812 RCV000665763 RCV000987078 RCV003145421 RCV002307710 RCV001280544 RCV001263729 RCV001263730 RCV001263731 RCV001263732 RCV001263733 RCV001263734
See cases	Likely pathogenic	rs180177215	RCV002252033

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs180177196, rs180177275, rs796052073	-
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Conflicting classifications of pathogenicity	rs180177239	RCV005861073

Show/Hide Text Mining Associations (64)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agnosia	Stimulate	1742479
Atherosclerosis	Associate	19592499
Blast Crisis	Associate	265737, 2724649
Cakut	Associate	27151922
Carcinoma Hepatocellular	Associate	25975536, 28430663, 35625596
Carcinoma Non Small Cell Lung	Associate	33408043
Carcinoma Renal Cell	Associate	32144299, 38297313
Cerebral Infarction	Associate	26352407
Cholangiocarcinoma	Associate	36158120
Chromosome Aberrations	Stimulate	1062222, 1976121
Chromosome Aberrations	Associate	264384, 6581840
Ciliopathies	Associate	24257694
Colorectal Neoplasms	Associate	22868256
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	36409364
Deafness	Associate	19376777
Death	Associate	15253729, 37874369
Diabetes Mellitus	Associate	25567748
Drug Related Side Effects and Adverse Reactions	Associate	22868256
Hematologic Neoplasms	Associate	2224129
Hereditary Sensory and Autonomic Neuropathies	Associate	19376777, 20920666, 21618344, 25567748, 26681808, 34059824
Hodgkin Disease	Associate	2183888
Hyperoxaluria	Associate	18951670, 24934730
Hyperoxaluria Primary	Associate	15840016, 18782763, 21612638, 25644115, 32221050, 35612621, 35661454, 36151119, 40225159
Hypertension Pulmonary	Associate	26352407
Kidney Calculi	Associate	22923379, 27644547, 35612621, 35830169
Kidney Diseases	Associate	21612638, 22529745, 27151922, 35830169
Kidney Failure Chronic	Associate	15253729, 24988064, 32569165, 37874369
Leukemia	Inhibit	10595741
Leukemia	Associate	1515646, 1985699, 2046206, 2328318, 265177, 3465378, 6451143, 6574794, 6972238, 8204887
Leukemia Lymphocytic Chronic B Cell	Associate	4528599
Leukemia Lymphoid	Associate	1683797
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	10398316, 1055011, 1060474, 1062222, 10651725, 1371078, 1383271, 1515646, 1742479, 1976121, 2039825, 2040694, 2175222, 2205309, 2224129 View all (49 more)
Leukemia Myelogenous Chronic BCR ABL Positive	Stimulate	1985690
Leukemia Myeloid	Associate	3478105
Leukemia Myeloid Acute	Associate	1054612, 1067875, 1985690, 2581635, 265737, 2678002, 2930840, 3478106
Leukemia Myeloid Acute	Stimulate	7049266
Liver Failure	Associate	10960483
Metabolic Syndrome	Associate	25567748
Mitochondrial Diseases	Associate	1703535
Multiple Myeloma	Associate	2183888
Myelocytic leukemia like syndrome familial chronic	Associate	2260501
Myelodysplastic Syndromes	Associate	3478106
Myeloproliferative Disorders	Associate	1054612, 278632
Neoplasm Metastasis	Associate	28430663
Neoplasms	Inhibit	32144299
Neoplasms	Associate	35625596
Neoplasms Bone Tissue	Associate	278632
Nephrocalcinosis	Associate	24934730, 28893421, 33721035, 35612621
Nervous System Diseases	Associate	20308030
Neurotoxicity Syndromes	Associate	35904184
Pain	Associate	19376777
Peroxisomal Disorders	Associate	24990153
Philadelphia Chromosome	Associate	15327387, 21612638, 26252291, 28906061, 31715429, 33274618, 33691640, 3416075, 35218550, 36151119, 38243391, 6581842
Philadelphia Chromosome	Stimulate	3456250
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	1515646, 2498881, 2581635, 264384, 2678002, 2896031, 2930840, 3118359, 6581840, 8608244
Precursor Cell Lymphoblastic Leukemia Lymphoma	Stimulate	1586748, 2040694, 6930307
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	9217185
Primary hyperoxaluria type 1	Inhibit	10960483, 2925788
Primary hyperoxaluria type 1	Associate	15253729, 15840016, 15849465, 16957746, 1703535, 17696873, 18782763, 18951670, 20056599, 20133649, 20150937, 20208150, 20564000, 22529745, 22923379 View all (24 more)
Pyridoxamine 5 Prime Phosphate Oxidase Deficiency	Associate	10960483
Renal Insufficiency Chronic	Associate	24257694, 35306035
Rufous oculocutaneous albinism	Associate	22781098
Turner Syndrome	Associate	6594170
Urolithiasis	Associate	24934730

AGXT (alanine--glyoxylate aminotransferase)