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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57697
Gene name	FA complementation group M
Gene symbol	FANCM
Synonyms (NCBI Gene)	FAAP250KIAA1596POF15SPGF28
Chromosome	14
Chromosome location	14q21.2
Summary	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FAN

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SNP ID	Visualize variation	Clinical significance	Consequence
rs61753893	A>G	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs142864437	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs144215747	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs144567652	C>A,T	Uncertain-significance, pathogenic	Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, intron variant
rs146897650	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant, missense variant
rs147021911	C>T	Pathogenic, likely-pathogenic, risk-factor	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant
rs200173413	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs762570903	CTCT>-,CT,CTCTCT	Pathogenic	Genic downstream transcript variant, stop gained, frameshift variant, non coding transcript variant, coding sequence variant
rs768006618	AAAA>-,AAAAA	Likely-pathogenic, uncertain-significance	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs797045116	->A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1375421660	AT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1555361990	G>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555363275	CAGAGAAGCCTTC>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1555365959	A>G	Pathogenic	Genic downstream transcript variant, intron variant
rs1566761441	G>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1566764032	G>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1566766719	->G	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1566775496	C>G	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1594810654	TTTT>CAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, inframe indel, non coding transcript variant

153

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016474	hsa-miR-193b-3p	Microarray	20304954
MIRT026567	hsa-miR-192-5p	Microarray	19074876
MIRT695957	hsa-miR-122-3p	HITS-CLIP	23313552
MIRT695956	hsa-miR-1247-3p	HITS-CLIP	23313552
MIRT695955	hsa-miR-4532	HITS-CLIP	23313552
MIRT695954	hsa-miR-4722-3p	HITS-CLIP	23313552
MIRT695953	hsa-miR-6727-3p	HITS-CLIP	23313552
MIRT695952	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT695951	hsa-miR-1976	HITS-CLIP	23313552
MIRT695949	hsa-miR-4268	HITS-CLIP	23313552
MIRT695950	hsa-miR-4448	HITS-CLIP	23313552
MIRT695948	hsa-miR-6772-3p	HITS-CLIP	23313552
MIRT551967	hsa-miR-4803	PAR-CLIP	21572407
MIRT070052	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT070051	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT070050	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT070055	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT070060	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT070064	hsa-miR-3908	PAR-CLIP	21572407
MIRT551966	hsa-miR-4795-5p	PAR-CLIP	21572407
MIRT070058	hsa-miR-889-3p	PAR-CLIP	21572407
MIRT070062	hsa-miR-3616-5p	PAR-CLIP	21572407
MIRT070054	hsa-miR-573	PAR-CLIP	21572407
MIRT695957	hsa-miR-122-3p	HITS-CLIP	23313552
MIRT695956	hsa-miR-1247-3p	HITS-CLIP	23313552
MIRT695955	hsa-miR-4532	HITS-CLIP	23313552
MIRT695954	hsa-miR-4722-3p	HITS-CLIP	23313552
MIRT695953	hsa-miR-6727-3p	HITS-CLIP	23313552
MIRT695952	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT695951	hsa-miR-1976	HITS-CLIP	23313552
MIRT695949	hsa-miR-4268	HITS-CLIP	23313552
MIRT695950	hsa-miR-4448	HITS-CLIP	23313552
MIRT695948	hsa-miR-6772-3p	HITS-CLIP	23313552
MIRT551967	hsa-miR-4803	PAR-CLIP	21572407
MIRT070052	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT070051	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT070050	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT070055	hsa-miR-580-5p	PAR-CLIP	21572407
MIRT070060	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT070064	hsa-miR-3908	PAR-CLIP	21572407
MIRT551966	hsa-miR-4795-5p	PAR-CLIP	21572407
MIRT070058	hsa-miR-889-3p	PAR-CLIP	21572407
MIRT070062	hsa-miR-3616-5p	PAR-CLIP	21572407
MIRT070054	hsa-miR-573	PAR-CLIP	21572407
MIRT989199	hsa-miR-146a	CLIP-seq
MIRT989200	hsa-miR-146b-5p	CLIP-seq
MIRT989201	hsa-miR-21	CLIP-seq
MIRT989202	hsa-miR-2110	CLIP-seq
MIRT989203	hsa-miR-2467-3p	CLIP-seq
MIRT989204	hsa-miR-3074-3p	CLIP-seq
MIRT989205	hsa-miR-31	CLIP-seq
MIRT989206	hsa-miR-3125	CLIP-seq
MIRT989207	hsa-miR-3144-5p	CLIP-seq
MIRT989208	hsa-miR-3150a-3p	CLIP-seq
MIRT989209	hsa-miR-3158-5p	CLIP-seq
MIRT989210	hsa-miR-3163	CLIP-seq
MIRT989211	hsa-miR-3191	CLIP-seq
MIRT989212	hsa-miR-340	CLIP-seq
MIRT989213	hsa-miR-34a	CLIP-seq
MIRT989214	hsa-miR-34c-5p	CLIP-seq
MIRT989215	hsa-miR-361-5p	CLIP-seq
MIRT989216	hsa-miR-3647-5p	CLIP-seq
MIRT989217	hsa-miR-3678-3p	CLIP-seq
MIRT989218	hsa-miR-3692	CLIP-seq
MIRT989219	hsa-miR-3916	CLIP-seq
MIRT989220	hsa-miR-3925-5p	CLIP-seq
MIRT989221	hsa-miR-4418	CLIP-seq
MIRT989222	hsa-miR-449a	CLIP-seq
MIRT989223	hsa-miR-449b	CLIP-seq
MIRT989224	hsa-miR-4652-5p	CLIP-seq
MIRT989225	hsa-miR-509-3-5p	CLIP-seq
MIRT989226	hsa-miR-509-5p	CLIP-seq
MIRT989227	hsa-miR-519a	CLIP-seq
MIRT989228	hsa-miR-548aa	CLIP-seq
MIRT989229	hsa-miR-590-5p	CLIP-seq
MIRT989230	hsa-miR-659	CLIP-seq
MIRT989231	hsa-miR-759	CLIP-seq
MIRT989232	hsa-miR-889	CLIP-seq
MIRT1993111	hsa-miR-101	CLIP-seq
MIRT1993112	hsa-miR-128	CLIP-seq
MIRT1993113	hsa-miR-1910	CLIP-seq
MIRT1993114	hsa-miR-27a	CLIP-seq
MIRT1993115	hsa-miR-27b	CLIP-seq
MIRT1993116	hsa-miR-3122	CLIP-seq
MIRT989208	hsa-miR-3150a-3p	CLIP-seq
MIRT1993117	hsa-miR-3153	CLIP-seq
MIRT1993118	hsa-miR-3175	CLIP-seq
MIRT1993119	hsa-miR-3652	CLIP-seq
MIRT1993120	hsa-miR-3913-5p	CLIP-seq
MIRT1993121	hsa-miR-4430	CLIP-seq
MIRT1993122	hsa-miR-4471	CLIP-seq
MIRT1993123	hsa-miR-4505	CLIP-seq
MIRT1993124	hsa-miR-4667-5p	CLIP-seq
MIRT1993125	hsa-miR-4668-5p	CLIP-seq
MIRT1993126	hsa-miR-4700-5p	CLIP-seq
MIRT1993127	hsa-miR-4709-5p	CLIP-seq
MIRT1993128	hsa-miR-4731-5p	CLIP-seq
MIRT1993129	hsa-miR-4775	CLIP-seq
MIRT1993130	hsa-miR-590-3p	CLIP-seq
MIRT1993131	hsa-miR-939	CLIP-seq
MIRT2227029	hsa-miR-1275	CLIP-seq
MIRT1993112	hsa-miR-128	CLIP-seq
MIRT1993113	hsa-miR-1910	CLIP-seq
MIRT989202	hsa-miR-2110	CLIP-seq
MIRT1993114	hsa-miR-27a	CLIP-seq
MIRT1993115	hsa-miR-27b	CLIP-seq
MIRT989204	hsa-miR-3074-3p	CLIP-seq
MIRT989207	hsa-miR-3144-5p	CLIP-seq
MIRT989208	hsa-miR-3150a-3p	CLIP-seq
MIRT1993118	hsa-miR-3175	CLIP-seq
MIRT989211	hsa-miR-3191	CLIP-seq
MIRT989215	hsa-miR-361-5p	CLIP-seq
MIRT1993119	hsa-miR-3652	CLIP-seq
MIRT1993121	hsa-miR-4430	CLIP-seq
MIRT1993122	hsa-miR-4471	CLIP-seq
MIRT1993123	hsa-miR-4505	CLIP-seq
MIRT2227030	hsa-miR-4525	CLIP-seq
MIRT989224	hsa-miR-4652-5p	CLIP-seq
MIRT2227031	hsa-miR-4665-5p	CLIP-seq
MIRT1993124	hsa-miR-4667-5p	CLIP-seq
MIRT1993126	hsa-miR-4700-5p	CLIP-seq
MIRT2227032	hsa-miR-4723-5p	CLIP-seq
MIRT1993128	hsa-miR-4731-5p	CLIP-seq
MIRT2227033	hsa-miR-4773	CLIP-seq
MIRT2227034	hsa-miR-625	CLIP-seq
MIRT989230	hsa-miR-659	CLIP-seq
MIRT1993131	hsa-miR-939	CLIP-seq
MIRT1993112	hsa-miR-128	CLIP-seq
MIRT1993113	hsa-miR-1910	CLIP-seq
MIRT1993114	hsa-miR-27a	CLIP-seq
MIRT1993115	hsa-miR-27b	CLIP-seq
MIRT989208	hsa-miR-3150a-3p	CLIP-seq
MIRT1993118	hsa-miR-3175	CLIP-seq
MIRT1993119	hsa-miR-3652	CLIP-seq
MIRT1993121	hsa-miR-4430	CLIP-seq
MIRT1993123	hsa-miR-4505	CLIP-seq
MIRT1993124	hsa-miR-4667-5p	CLIP-seq
MIRT1993126	hsa-miR-4700-5p	CLIP-seq
MIRT1993128	hsa-miR-4731-5p	CLIP-seq
MIRT1993131	hsa-miR-939	CLIP-seq
MIRT1993112	hsa-miR-128	CLIP-seq
MIRT1993113	hsa-miR-1910	CLIP-seq
MIRT1993114	hsa-miR-27a	CLIP-seq
MIRT1993115	hsa-miR-27b	CLIP-seq
MIRT989208	hsa-miR-3150a-3p	CLIP-seq
MIRT1993118	hsa-miR-3175	CLIP-seq
MIRT1993119	hsa-miR-3652	CLIP-seq
MIRT1993121	hsa-miR-4430	CLIP-seq
MIRT1993123	hsa-miR-4505	CLIP-seq
MIRT1993124	hsa-miR-4667-5p	CLIP-seq
MIRT1993126	hsa-miR-4700-5p	CLIP-seq
MIRT1993128	hsa-miR-4731-5p	CLIP-seq
MIRT1993131	hsa-miR-939	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000400	Function	Four-way junction DNA binding	IBA
GO:0000712	Process	Resolution of meiotic recombination intermediates	IMP	20347428
GO:0000785	Component	Chromatin	IDA	20347429
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	20347429
GO:0003724	Function	RNA helicase activity	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	17289582, 20347429, 23932590, 25416956, 32296183, 32769987, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0009378	Function	Four-way junction helicase activity	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031297	Process	Replication fork processing	IMP	20347428
GO:0035825	Process	Homologous recombination	IEA
GO:0036297	Process	Interstrand cross-link repair	IBA
GO:0036297	Process	Interstrand cross-link repair	IDA	20347429
GO:0043138	Function	3'-5' DNA helicase activity	IBA
GO:0043138	Function	3'-5' DNA helicase activity	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428, 20347429
GO:0045003	Process	Double-strand break repair via synthesis-dependent strand annealing	IBA
GO:0071821	Component	FANCM-MHF complex	IDA	20347428
GO:0071821	Component	FANCM-MHF complex	IPI	20347429
GO:1902527	Process	Positive regulation of protein monoubiquitination	IMP	29231814

MIM	HGNC	e!Ensembl
609644	23168	ENSG00000187790

Q8IYD8

Protein name

Fanconi anemia group M protein (Protein FACM) (EC 3.6.4.13) (ATP-dependent RNA helicase FANCM) (Fanconi anemia-associated polypeptide of 250 kDa) (FAAP250) (Protein Hef ortholog)

Protein function

DNA-dependent ATPase component of the Fanconi anemia (FA) core complex (PubMed:16116422). Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resista

PDB

4BXO , 4DAY , 4DRB , 4E45 , 4M6W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04851	ResIII	88 → 250	Type III restriction enzyme, res subunit	Family
PF00271	Helicase_C	456 → 581	Helicase conserved C-terminal domain	Family
PF16783	FANCM-MHF_bd	675 → 790	FANCM to MHF binding domain	Domain
PF02732	ERCC4	1826 → 1948	ERCC4 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in germ cells of fetal and adult ovaries. In fetal ovaries, it is present in oogonia but expression is stronger in pachytene stage oocytes. Expressed in oocytes arrested at the diplotene stage of prophase I during the last tr

Sequence

MSGRQRTLFQTWGSSISRSSGTPGCSSGTERPQSPGSSKAPLPAAAEAQLESDDDVLLVA
AYEAERQLCLENGGFCTSAGALWIYPTNCPVRDYQLHISRAALFCNTLVCLPTGLGKTFI
AAVVMYNFYRWFPSGKVVFMAPTKPLVTQQIEACYQVMGIPQSHMAEMTGSTQASTRKEI
WCSKRVLFLTPQVMVNDLSRGACPAAEIKCLVIDEAHKALGNYAYCQVVRELVKYTNHFR
ILALSATPGSDIKAVQQVITNLLIGQIELRSEDSPDILTYSHERKVEKLIVPLGEELAAI
QKTYIQILESFARSLIQRNVLMRRDIPNLTKYQIILARDQFRKNPSPNIVGIQQGIIEGE
FAICISLYHGYELLQQMGMRSLYFFLCGIMDGTKGMTRSKNELGRNEDFMKLYNHLECMF
ARTRSTSANGISAIQQGDKNKKFVYSHPKLKKLEEVVIEHFKSWNAENTTEKKRDETRVM
IFSSFRDSVQEIAEMLSQHQPIIRVMTFVGHASGKSTKGFTQKEQLEVVKQFRDGGYNTL
VSTCVGEEGLDIGEVDLIICFDSQKSPIRLVQRMGRTGRKRQGRIVIILSEGREERIYNQ
SQSNKRSIYKAISSNRQVLHFYQRSPRMVPDGINPKLHKMFITHGVYEPEKPSRNLQRKS
SIFSYRDGMRQSSLKKDWFLSEEEFKLWNRLYRLRDSDEIKEITLPQVQFSSLQNEENKP
AQESTTGIHQLSLSEWRLWQDHPLPTHQVDHSDRCRHFIGLMQMIEGMRHEEGECSYELE
VESYLQMEDVTSTFIAPRNESNNLASDTFITHKKSSFIKNINQGSSSSVIESDEECAEIV
KQTHIKPTKIVSLKKKVSKEIKKDQLKKENNHGIIDSVDNDRNSTVENIFQEDLPNDKRT
SDTDEIAATCTINENVIKEPCVLLTECQFTNKSTSSLAGNVLDSGYNSFNDEKSVSSNLF
LPFEEELYIVRTDDQFYNCHSLTKEVLANVERFLSYSPPPLSGLSDLEYEIAKGTALENL
LFLPCAEHLRSDKCTCLLSHSAVNSQQNLELNSLKCINYPSEKSCLYDIPNDNISDEPSL
CDCDVHKHNQNENLVPNNRVQIHRSPAQNLVGENNHDVDNSDLPVLSTDQDESLLLFEDV
NTEFDDVSLSPLNSKSESLPVSDKTAISETPLVSQFLISDELLLDNNSELQDQITRDANS
FKSRDQRGVQEEKVKNHEDIFDCSRDLFSVTFDLGFCSPDSDDEILEHTSDSNRPLDDLY
GRYLEIKEISDANYVSNQALIPRDHSKNFTSGTVIIPSNEDMQNPNYVHLPLSAAKNEEL
LSPGYSQFSLPVQKKVMSTPLSKSNTLNSFSKIRKEILKTPDSSKEKVNLQRFKEALNST
FDYSEFSLEKSKSSGPMYLHKSCHSVEDGQLLTSNESEDDEIFRRKVKRAKGNVLNSPED
QKNSEVDSPLHAVKKRRFPINRSELSSSDESENFPKPCSQLEDFKVCNGNARRGIKVPKR
QSHLKHVARKFLDDEAELSEEDAEYVSSDENDESENEQDSSLLDFLNDETQLSQAINDSE
MRAIYMKSLRSPMMNNKYKMIHKTHKNINIFSQIPEQDETYLEDSFCVDEEESCKGQSSE
EEVCVDFNLITDDCFANSKKYKTRRAVMLKEMMEQNCAHSKKKLSRIILPDDSSEEENNV
NDKRESNIAVNPSTVKKNKQQDHCLNSVPSGSSAQSKVRSTPRVNPLAKQSKQTSLNLKD
TISEVSDFKPQNHNEVQSTTPPFTTVDSQKDCRKFPVPQKDGSALEDSSTSGASCSKSRP
HLAGTHTSLRLPQEGKGTCILVGGHEITSGLEVISSLRAIHGLQVEVCPLNGCDYIVSNR
MVVERRSQSEMLNSVNKNKFIEQIQHLQSMFERICVIVEKDREKTGDTSRMFRRTKSYDS
LLTTLIGAGIRILFSSCQEETADLLKELSLVEQRKNVGIHVPTVVNSNKSEALQFYLSIP
NISYITALNMCHQFSSVKRMANSSLQEISMYAQVTHQKAEEIYRYIHYVFDIQMLPNDLN
QDRLKSDI

Sequence length

2048

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway		Fanconi Anemia Pathway

3047

Show/Hide Causal Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Azoospermia	Likely pathogenic; Pathogenic	rs144567652	RCV001797115
Familial cancer of breast	Likely pathogenic; Pathogenic	rs147021911, rs144567652	RCV001250424 RCV001250442
FANCM-related disorder	Likely pathogenic; Pathogenic	rs1566783809, rs1213350464, rs1885521004, rs758498345, rs759378949, rs1885473805, rs978210562, rs147021911, rs368728266, rs768006618, rs374626826	RCV004528499 RCV004536195 RCV004728940 RCV004538596 RCV004725418 RCV004536729 RCV004529302 RCV004737537 RCV004737581 RCV004737936 RCV004528375
Fanconi anemia	Likely pathogenic; Pathogenic	rs751795256, rs2139106255, rs2139106358, rs2139151883, rs1886630094, rs2139186499, rs762570903, rs1888447684, rs778191984, rs2139249281, rs746983128, rs776133776, rs751954386, rs1227066484, rs1405059699 View all (128 more)	RCV001389938 RCV001387276 RCV001384435 RCV001387570 RCV001385361 RCV001385342 RCV001387921 RCV001384745 RCV001384271 RCV001381289 RCV001382035 RCV001385667 RCV001380939 RCV001380593 RCV001383880 RCV001388064 RCV001382362 RCV001380036 RCV001388818 RCV001387500 RCV002568275 RCV003523100 RCV001965362 RCV001966317 RCV001945326 RCV001961522 RCV001947770 RCV001938169 RCV001893178 RCV001954597 RCV001931111 RCV001884529 RCV001967617 RCV002035375 RCV001993204 RCV001912868 RCV001913877 RCV002007438 RCV001994869 RCV001972442 RCV001946984 RCV001936499 RCV001967676 RCV002014022 RCV001901339 RCV002001234 RCV001949350 RCV002018194 RCV001940429 RCV001975023 RCV002039926 RCV001892516 RCV001916493 RCV001957067 RCV003062629 RCV003065217 RCV003061594 RCV003070226 RCV003091980 RCV003089982 RCV002610417 RCV002599337 RCV002595280 RCV002607696 RCV002629996 RCV002624544 RCV002629379 RCV003121287 RCV002578307 RCV002579847 RCV002596873 RCV002589414 RCV001206024 RCV002797232 RCV002866739 RCV002866093 RCV002857859 RCV002881224 RCV002914184 RCV002937698 RCV002923612 RCV002949008 RCV003777404 RCV003523259 RCV003522160 RCV003525073 RCV003525077 RCV003525089 RCV003524873 RCV003523625 RCV003523534 RCV003524466 RCV003522829 RCV003636106 RCV003637230 RCV003637638 RCV003637933 RCV003638072 RCV003635669 RCV003636635 RCV003636713 RCV003637395 RCV003822247 RCV003828034 RCV003853698 RCV003864387 RCV003870991 RCV003879688 RCV000456962 RCV000705743 RCV000557989 RCV000547908 RCV000630904 RCV000800840 RCV000696857 RCV000700187 RCV002535028 RCV001387795 RCV001862117 RCV001941668 RCV000807702 RCV000814158 RCV000810762 RCV000816054 RCV002551724 RCV001039182 RCV001042509 RCV001066647 RCV001040062 RCV001070935 RCV001062579 RCV001048780 RCV001043562 RCV001048639 RCV001045406 RCV001067571 RCV001041845 RCV001065724 RCV001220858 RCV001212264 RCV001205878 RCV001209303 RCV001237908 RCV001231918 RCV001233984 RCV001240097 RCV001234488
Fanconi anemia complementation group A	Likely pathogenic; Pathogenic	rs147021911	RCV000989212
Hereditary breast ovarian cancer syndrome	Likely pathogenic	rs762570903, rs752136594	RCV001030475 RCV001030479
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs1034818403, rs368728266, rs768006618, rs1011870043	RCV002258344 RCV002256327 RCV002257920 RCV002258173
Hereditary nonpolyposis colorectal carcinoma	Likely pathogenic; Pathogenic	rs144567652	RCV002245059
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic; Pathogenic	rs797045116	RCV003991575
Male infertility with spermatogenesis disorder	Likely pathogenic; Pathogenic	rs147021911	RCV003991578
Malignant germ cell tumor of ovary	Likely pathogenic; Pathogenic	rs144567652	RCV000722040
Premature ovarian failure 15	Likely pathogenic; Pathogenic	rs2139186499, rs797045116, rs759378949, rs2503084712, rs147021911, rs368728266, rs144567652, rs768006618, rs1889219103	RCV005395005 RCV006249370 RCV004595677 RCV005003676 RCV000678209 RCV005010460 RCV004595521 RCV005010639 RCV003462691
Retinoblastoma	Likely pathogenic	rs1375421660	RCV000761170
See cases	Likely pathogenic	rs2503172640	RCV004579612
Spermatogenic failure 28	Likely pathogenic; Pathogenic	rs2139186499, rs797045116, rs2503084712, rs147021911, rs368728266, rs144567652, rs768006618, rs1555365959, rs1555363275, rs1888281367	RCV005395005 RCV000677275 RCV005003676 RCV000677276 RCV001293940 RCV000677277 RCV002248851 RCV000677274 RCV000677278 RCV001293942

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs45607635	RCV005923691
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs45557033	RCV005894117
Aplastic anemia	Conflicting classifications of pathogenicity	rs139382267	RCV003447530
Cervical cancer	Benign; Likely benign	rs45557033	RCV005894118
Cholangiocarcinoma	Benign	rs11157433	RCV005921830
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs751262177	RCV005900113
Colon adenocarcinoma	Benign; Likely benign	rs759364320, rs45557033	RCV005869663 RCV005894114
Fanconi anemia, complementation group M	Uncertain significance	rs137852864, rs144008013	RCV000001665 RCV000709952
Gastric cancer	Benign; Likely benign	rs759364320	RCV005869665
Germ cell tumor of testis	Uncertain significance	rs141336758	RCV005931592
Hepatoblastoma	Uncertain significance; Conflicting classifications of pathogenicity	rs1245071059, rs142864437	RCV001843904 RCV001843509
Hepatocellular carcinoma	Benign; Likely benign	rs45557033	RCV005894115
Hereditary cancer	Conflicting classifications of pathogenicity; Uncertain significance	rs567425336, rs1291848804, rs1023555775, rs200360968, rs148810507, rs143152888, rs530233908, rs377502779, rs201017015, rs146436929, rs771311008, rs772645088	RCV005232734 RCV004700938 RCV004701846 RCV004701404 RCV003492091 RCV004702332 RCV005231367 RCV004702449 RCV003492175 RCV003492178 RCV003492195 RCV004698857
Malignant lymphoma, large B-cell, diffuse	Benign	rs11157433	RCV005921828
Malignant tumor of esophagus	Benign	rs45607635	RCV005923692
Melanoma	Benign; Likely benign	rs45557033	RCV005894122
Nonpapillary renal cell carcinoma	Benign; Likely benign; Uncertain significance	rs759364320, rs45557033, rs141336758	RCV005869664 RCV005894116 RCV005931591
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs75467645, rs45607635	RCV005914739 RCV005923694
Sarcoma	Benign; Likely benign	rs150757891, rs45607635, rs45557033	RCV005914439 RCV005923693 RCV005894119
Thymoma	Benign; Likely benign	rs45557033	RCV005894120
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs45557033	RCV005894121
Uterine carcinosarcoma	Benign	rs11157433	RCV005921829
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs45607635, rs45557033	RCV005923695 RCV005894123

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	39519399
Alternating hemiplegia of childhood	Inhibit	31138797
Anemia Hemolytic	Associate	20160754, 22510687
Azoospermia	Associate	35172124
Azoospermia Nonobstructive	Associate	36017582
Bloom Syndrome	Associate	20064455, 22392978
Bone Marrow Failure Disorders	Associate	37450374
Breast Neoplasms	Associate	25288723, 26130695, 27542569, 28033443, 28591191, 28702895, 28837162, 29231814, 29351780, 33118316, 34282249, 35353237, 36315097, 36835452
Burkitt Lymphoma	Associate	30779244
Carcinoma Pancreatic Ductal	Associate	32113160
Carcinoma Renal Cell	Stimulate	34331411
Cardiac Output Low	Inhibit	36652992
Chordoma	Associate	37024492
Chromosome Aberrations	Associate	29231814
Chromosome Fragility	Associate	28837157, 28837162
Colorectal Neoplasms	Associate	33118316, 36356413
Drug Related Side Effects and Adverse Reactions	Associate	28837157, 28837162
Epileptic Syndromes	Associate	36835452
Fanconi Anemia	Associate	16116422, 19405097, 19423727, 20064455, 20347418, 20347429, 20670894, 22547783, 23698467, 23932590, 24003026, 24885126, 26825464, 27351285, 28837157, 35867033, 40447800 View all (2 more)
Friedreich Ataxia 1	Associate	20160754
Hereditary Breast and Ovarian Cancer Syndrome	Associate	30306255, 30927251, 31882575, 33099839
Hereditary pancreatitis	Associate	28687971
Inflammation	Associate	27351285
Intestinal Polyposis	Associate	36356413
Kidney Diseases	Associate	34067580
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	40344211
Leukemia Myeloid Acute	Associate	32868804
Medulloblastoma	Associate	28376765
Myelodysplastic Syndromes	Associate	36503307
Neoplasms	Associate	20160754, 26689913, 28687971, 28702895, 28837157, 28837162, 30942098, 34331411, 37024492, 40447800
Neoplastic Syndromes Hereditary	Associate	28050010
Ovarian Neoplasms	Associate	28033443, 28702895, 33036707, 36721777
Pancreatic Neoplasms	Associate	26483394, 32113160, 39256447
Primary Ovarian Insufficiency	Associate	29231814, 33036707, 36099812, 38521400
Sertoli Cell Only Syndrome	Associate	37296437
Triple Negative Breast Neoplasms	Associate	25288723, 28702895

FANCM (FA complementation group M)