| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
Evidence Score |
| Cardiovascular phenotype |
Likely pathogenic; Pathogenic |
rs869025196, rs869025194, rs483352822, rs869312687, rs886041414, rs730881014, rs672601334, rs672601335, rs1673399238 |
RCV003162683 RCV002453562 RCV004020021 RCV003372654 RCV003167957 RCV003372696 RCV002399414 RCV002433549 RCV003372960 View all (4 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Congenital heart disease |
Likely pathogenic; Pathogenic |
rs730881014 |
RCV003483526 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Downslanted palpebral fissures |
Likely pathogenic; Pathogenic |
rs869312687 |
RCV000626786 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hypertelorism |
Likely pathogenic; Pathogenic |
rs869312687 |
RCV000626786 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Megalencephaly-capillary malformation-polymicrogyria syndrome |
Likely pathogenic; Pathogenic |
rs777520196 |
RCV002051722 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Melanoma |
Likely pathogenic; Pathogenic |
rs869025192 |
RCV005888596 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Neoplasm |
Likely pathogenic; Pathogenic |
rs869025192 |
RCV004668820 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Non-immune hydrops fetalis |
Pathogenic; Likely pathogenic |
rs2102584825, rs730881014 |
RCV001375991 RCV001375970 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Noonan syndrome |
Likely pathogenic; Pathogenic |
rs483352822, rs730881014, rs869025197, rs869025196, rs869025195, rs869025194, rs869025193, rs869025192, rs869025191, rs869025189, rs1557960039, rs672601334, rs672601335, rs1673398956, rs2102590960 |
RCV000220792 RCV000207343 RCV000207342 RCV000207351 RCV000207345 RCV000207352 RCV000207346 RCV000207338 RCV000207350 RCV000207347 RCV000207340 RCV000207341 RCV000218943 RCV001261143 RCV000207349 RCV000207348 RCV001261142 RCV001261139 View all (13 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Noonan syndrome 1 |
Pathogenic; Likely pathogenic |
rs869025195, rs869025191, rs730881014, rs1557962794, rs868208063, rs1571999498, rs672601334, rs672601335 |
RCV000856766 RCV000856755 RCV000856765 RCV003453398 RCV000856799 RCV000856764 RCV000856810 RCV000856747 RCV003450918 View all (4 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Noonan syndrome 8 |
Likely pathogenic; Pathogenic |
rs483352822, rs869312687, rs730881014, rs869025197, rs869025196, rs869025195, rs869025194, rs869025193, rs869025192, rs869025191, rs869025189, rs777520196, rs886041414, rs868208063, rs1557960039, rs1557962794, rs1571999498, rs672601334, rs672601335, rs1673399238, rs1673398956, rs2102590960 View all (7 more) |
RCV000106331 RCV002265526 RCV000054406 RCV000707713 RCV001384932 RCV001384933 RCV000170492 RCV001850287 RCV000226825 RCV000054405 RCV006449269 RCV000578238 RCV000475746 RCV000170493 RCV000209835 RCV000467706 RCV000722172 RCV001037285 RCV001855060 RCV000408903 RCV001782888 RCV000762859 RCV001861885 RCV000704832 RCV003581735 RCV000054404 RCV000054407 RCV001054701 RCV001253561 RCV001880009 RCV002541575 View all (26 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Noonan syndrome and Noonan-related syndrome |
Likely pathogenic; Pathogenic |
rs483352822, rs730881014, rs869025197, rs869025194, rs869025193, rs777520196, rs886041414, rs1557960039, rs672601334, rs672601335 |
RCV001813378 RCV001813414 RCV001813421 RCV001813420 RCV001813419 RCV001813418 RCV001813422 RCV001813444 RCV001813441 RCV001813544 RCV001813373 RCV001813374 View all (7 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Pedal edema |
Likely pathogenic; Pathogenic |
rs869312687 |
RCV000626786 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| RASopathy |
Likely pathogenic; Pathogenic |
rs483352822, rs730881014, rs869025196, rs869025195, rs869025194, rs869025193, rs869025191, rs869025189, rs868208063, rs1557960039, rs672601334, rs672601335 |
RCV001844039 RCV001255602 RCV005406858 RCV001175490 RCV001778757 RCV003317110 RCV001174556 RCV003114309 RCV003235080 RCV005237632 RCV005238808 RCV004701458 RCV001192383 RCV001731346 RCV001192384 View all (10 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| RIT1-related disorder |
Likely pathogenic; Pathogenic |
rs730881014, rs869025197, rs869025194, rs869025193, rs869025191, rs483352822, rs868208063, rs1571999498, rs672601334, rs672601335 |
RCV003398818 RCV003965185 RCV003927532 RCV004745234 RCV004745233 RCV003416059 RCV003418096 RCV003396492 RCV003390753 RCV003915017 View all (5 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Sarcoma |
Likely pathogenic; Pathogenic |
rs869025191 |
RCV006253909 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Short stature |
Likely pathogenic; Pathogenic |
rs869312687 |
RCV000626786 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |