DCHS2 — 229 ClinVar variants
All ClinVar germline DCHS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
83 Benign · 39 Likely benign · 107 Uncertain significance
Full DCHS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DCHS2 p.Ala1031Val Uncertain significance Single submitter
- DCHS2 p.Ala1043Thr Uncertain significance Single submitter
- DCHS2 p.Ala1279Thr Uncertain significance Single submitter
- DCHS2 p.Ala997Thr Uncertain significance Single submitter
- DCHS2 p.Arg1002Leu Uncertain significance Single submitter
- DCHS2 p.Arg1269Cys Uncertain significance Single submitter
- DCHS2 p.Arg1269Leu Uncertain significance Single submitter
- DCHS2 p.Arg734Ser Uncertain significance Single submitter
- DCHS2 p.Asp1186Val Uncertain significance Single submitter
- DCHS2 p.Asp782Tyr Uncertain significance Single submitter
- DCHS2 p.Asp799His Uncertain significance Single submitter
- DCHS2 p.Gln593Lys Uncertain significance Single submitter
- DCHS2 p.Glu1056Asp Uncertain significance Single submitter
- DCHS2 p.Glu1074Gln Uncertain significance Single submitter
- DCHS2 p.Glu1201Gln Uncertain significance Single submitter
- DCHS2 p.Glu1201Lys Uncertain significance Single submitter
- DCHS2 p.Glu699Ala Uncertain significance Single submitter
- DCHS2 p.Glu789Lys Uncertain significance Single submitter
- DCHS2 p.Glu964Asp Uncertain significance Single submitter
- DCHS2 p.Gly1042Ala Uncertain significance Single submitter
- DCHS2 p.Gly61Ser Uncertain significance Single submitter
- DCHS2 p.Gly921Val Uncertain significance Single submitter
- DCHS2 p.His1061Gln Uncertain significance Single submitter
- DCHS2 p.His1109Arg Uncertain significance Single submitter
- DCHS2 p.His768Tyr Uncertain significance Single submitter
- DCHS2 p.Ile1178Val Uncertain significance Single submitter
- DCHS2 p.Ile821Val Uncertain significance Single submitter
- DCHS2 p.Ile828Val Uncertain significance Single submitter
- DCHS2 p.Ile988Leu Uncertain significance Single submitter
- DCHS2 p.Leu1049Val Uncertain significance Single submitter
- DCHS2 p.Leu1097Phe Uncertain significance Single submitter
- DCHS2 p.Leu1097Val Uncertain significance Single submitter
- DCHS2 p.Leu1120Val Uncertain significance Single submitter
- DCHS2 p.Leu998Met Uncertain significance Single submitter
- DCHS2 p.Lys1075Thr Uncertain significance Single submitter
- DCHS2 p.Lys746Arg Uncertain significance Single submitter
- DCHS2 p.Lys746Thr Uncertain significance Single submitter
- DCHS2 p.Lys922Arg Uncertain significance Single submitter
- DCHS2 p.Met596Ile Uncertain significance Single submitter
- DCHS2 p.Met845Ile Uncertain significance Single submitter
- DCHS2 p.Phe771Ser Uncertain significance Single submitter
- DCHS2 p.Phe979Ser Uncertain significance Single submitter
- DCHS2 p.Pro1062Thr Uncertain significance Single submitter
- DCHS2 p.Pro1080Leu Uncertain significance Single submitter
- DCHS2 p.Pro1110Leu Uncertain significance Single submitter
- DCHS2 p.Pro1119Leu Uncertain significance Single submitter
- DCHS2 p.Pro1137Ser Uncertain significance Single submitter
- DCHS2 p.Pro1204Thr Uncertain significance Single submitter
- DCHS2 p.Pro1295Ser Uncertain significance Single submitter
- DCHS2 p.Pro769Leu Uncertain significance Single submitter
- DCHS2 p.Pro937Arg Uncertain significance Single submitter
- DCHS2 p.Pro937Thr Uncertain significance Single submitter
- DCHS2 p.Ser989Tyr Uncertain significance Single submitter
- DCHS2 p.Thr778Met Uncertain significance Single submitter
- DCHS2 p.Thr824Ile Uncertain significance Single submitter
- DCHS2 p.Thr882Ile Uncertain significance Single submitter
- DCHS2 p.Tyr1138His Uncertain significance Single submitter
- DCHS2 p.Tyr881Asn Uncertain significance Single submitter
- DCHS2 p.Tyr886Phe Uncertain significance Single submitter
- DCHS2 p.Val1072Ile Uncertain significance Single submitter
- DCHS2 p.Val1091Met Uncertain significance Single submitter
- DCHS2 p.Val1160Ala Uncertain significance Single submitter
- DCHS2 p.Val1200Ile Uncertain significance Single submitter
- DCHS2 p.Val1250Met Uncertain significance Single submitter
- DCHS2 p.Val1284Ile Uncertain significance Single submitter
- DCHS2 p.Val1305Met Uncertain significance Single submitter
- DCHS2 p.Val1307Ile Uncertain significance Single submitter
- DCHS2 p.Val885Leu Uncertain significance Single submitter
-
DCHS2 p.Gly1459Arg
Uncertain significance
No assertion criteria
prostate cancer
-
DCHS2 p.Ile802Val
Uncertain significance
No assertion criteria
DCHS2-related disorder
-
DCHS2 p.Ser1397Phe
Uncertain significance
No assertion criteria
DCHS2-related disorder
Predictors split 2
The independent predictors disagree with each other — read with care.
All DCHS2 variants
Benign 83
- c.2053-13815C>T No assertion criteria DCHS2-related disorder
- c.2244+3329T>C No assertion criteria DCHS2-related disorder
- c.2477-8381C>T No assertion criteria DCHS2-related disorder
- c.4019-785CAAA[5] No assertion criteria DCHS2-related disorder
- c.4019-822G>A No assertion criteria DCHS2-related disorder
- c.4019-835C>A No assertion criteria DCHS2-related disorder
- c.4019-847del No assertion criteria DCHS2-related disorder
- c.4177-9G>A No assertion criteria DCHS2-related disorder
- c.7072+8_7072+9del No assertion criteria DCHS2-related disorder
- p.Ala1606Thr No assertion criteria DCHS2-related disorder
- p.Ala1626Val No assertion criteria DCHS2-related disorder
- p.Ala353Glu No assertion criteria DCHS2-related disorder
- p.Ala614Val No assertion criteria DCHS2-related disorder
- p.Ala978Thr No assertion criteria DCHS2-related disorder
- p.Arg1269= No assertion criteria DCHS2-related disorder
- p.Arg15Gln No assertion criteria DCHS2-related disorder
- p.Arg166Cys No assertion criteria DCHS2-related disorder
- p.Arg166Gly No assertion criteria DCHS2-related disorder
- p.Arg1802Gln No assertion criteria DCHS2-related disorder
- p.Arg1893Leu No assertion criteria DCHS2-related disorder
- p.Arg2692Cys No assertion criteria DCHS2-related disorder
- p.Arg3018Ser No assertion criteria DCHS2-related disorder
- p.Arg528Trp No assertion criteria DCHS2-related disorder
- p.Asn1352= No assertion criteria DCHS2-related disorder
- p.Asn1352Ser No assertion criteria DCHS2-related disorder
- p.Asn2274= No assertion criteria DCHS2-related disorder
- p.Asn2977His No assertion criteria DCHS2-related disorder
- p.Asn533= No assertion criteria DCHS2-related disorder
- p.Asp1349= No assertion criteria DCHS2-related disorder
- p.Asp2035= No assertion criteria DCHS2-related disorder
- p.Asp3199= No assertion criteria DCHS2-related disorder
- p.Asp731Asn No assertion criteria DCHS2-related disorder ⚠
- p.Gln2882Lys No assertion criteria DCHS2-related disorder
- p.Gln593Glu No assertion criteria DCHS2-related disorder
- p.Glu2050Gln No assertion criteria DCHS2-related disorder
- p.Glu2050Lys No assertion criteria DCHS2-related disorder
- p.Gly229= No assertion criteria DCHS2-related disorder
- p.Gly2615Ser No assertion criteria DCHS2-related disorder
- p.Gly342= No assertion criteria DCHS2-related disorder
- p.Gly852= No assertion criteria DCHS2-related disorder
- p.His1825= No assertion criteria DCHS2-related disorder
- p.His3088Tyr No assertion criteria DCHS2-related disorder
- p.His768Arg No assertion criteria DCHS2-related disorder
- p.Ile3135= No assertion criteria DCHS2-related disorder
- p.Leu1069= No assertion criteria DCHS2-related disorder
- p.Leu1226= No assertion criteria DCHS2-related disorder
- p.Leu1298Val No assertion criteria DCHS2-related disorder
- p.Leu1514Phe No assertion criteria DCHS2-related disorder
- p.Leu22Phe No assertion criteria DCHS2-related disorder
- p.Leu2617= No assertion criteria DCHS2-related disorder
- p.Leu2645= No assertion criteria DCHS2-related disorder
- p.Leu287= No assertion criteria DCHS2-related disorder
- p.Leu481= No assertion criteria DCHS2-related disorder
- p.Leu742Pro No assertion criteria DCHS2-related disorder
- p.Lys2930Arg No assertion criteria DCHS2-related disorder
- p.Pro209Ser No assertion criteria DCHS2-related disorder
- p.Pro26= No assertion criteria DCHS2-related disorder
- p.Pro2800= No assertion criteria DCHS2-related disorder
- p.Pro3131Leu No assertion criteria DCHS2-related disorder
- p.Pro3297Leu No assertion criteria DCHS2-related disorder
- p.Ser1362= No assertion criteria DCHS2-related disorder
- p.Ser1660Leu No assertion criteria DCHS2-related disorder
- p.Ser2572Ala No assertion criteria DCHS2-related disorder
- p.Ser2758Asn No assertion criteria DCHS2-related disorder
- p.Ser468= No assertion criteria DCHS2-related disorder
- p.Ser562= No assertion criteria DCHS2-related disorder
- p.Ser843Leu No assertion criteria DCHS2-related disorder
- p.Thr1935Arg No assertion criteria DCHS2-related disorder
- p.Thr1973Pro No assertion criteria DCHS2-related disorder
- p.Thr2156Ile No assertion criteria DCHS2-related disorder
- p.Thr3186Ile No assertion criteria DCHS2-related disorder
- p.Thr396= No assertion criteria DCHS2-related disorder
- p.Thr620Ala No assertion criteria DCHS2-related disorder
- p.Thr934= No assertion criteria DCHS2-related disorder
- p.Tyr2464fs No assertion criteria DCHS2-related disorder
- p.Val1068= No assertion criteria DCHS2-related disorder
- p.Val1282Ile No assertion criteria DCHS2-related disorder
- p.Val190Gly No assertion criteria DCHS2-related disorder
- p.Val2028= No assertion criteria DCHS2-related disorder
- p.Val2031= No assertion criteria DCHS2-related disorder
- p.Val2462Ala No assertion criteria DCHS2-related disorder
- p.Val946Ala No assertion criteria DCHS2-related disorder
- p.Val950Leu No assertion criteria DCHS2-related disorder
Likely benign 39
- c.2053-13814G>A Single submitter
- p.Ala1279Val Single submitter
- p.Arg1269His Single submitter
- p.Arg187Leu Single submitter
- p.Arg263Trp Single submitter
- p.Arg425Leu Single submitter
- p.Arg716Gln Single submitter
- p.Asp1538= Single submitter
- p.Asp1873= Single submitter
- p.Glu10Gln Single submitter
- p.His940Gln Single submitter
- p.Leu2507Ter Single submitter
- p.Met1103Ile Single submitter
- p.Met1132Ile Single submitter
- p.Pro1021Gln Single submitter
- p.Pro1325Leu Single submitter
- p.Pro3069Leu Single submitter
- p.Pro91= Single submitter
- p.Ser140Gly Single submitter
- p.Ser2387= Single submitter
- p.Ser564= Single submitter
- p.Ser688= Single submitter
- p.Thr942Ala Single submitter
- c.2053-13755G>A No assertion criteria DCHS2-related disorder
- c.2053-13804_2053-13802del No assertion criteria DCHS2-related disorder
- c.5020+8G>T No assertion criteria DCHS2-related disorder
- c.5020+9C>T No assertion criteria DCHS2-related disorder
- c.6464-5T>C No assertion criteria DCHS2-related disorder
- p.Ala1976Ser No assertion criteria DCHS2-related disorder
- p.Arg3044Trp No assertion criteria DCHS2-related disorder
- p.Arg317= No assertion criteria DCHS2-related disorder
- p.Asp170Glu No assertion criteria DCHS2-related disorder
- p.Gln265= No assertion criteria DCHS2-related disorder
- p.Gly123Cys No assertion criteria DCHS2-related disorder
- p.Ser610= No assertion criteria DCHS2-related disorder
- p.Thr184= No assertion criteria DCHS2-related disorder
- p.Thr3336Met No assertion criteria DCHS2-related disorder
- p.Thr870Ala No assertion criteria DCHS2-related disorder
- p.Val1072Phe No assertion criteria DCHS2-related disorder
Uncertain significance 107
- c.2053-13744T>A Single submitter
- c.2053-13798T>C Single submitter
- c.2053-13820G>A Single submitter
- c.2053-13834C>G Single submitter
- c.2244+3317A>T Single submitter
- c.2476+8901A>C Single submitter
- c.2477-1G>T Single submitter DCHS2-related disorder
- c.3730+872C>T Single submitter
- c.3730+890G>A Single submitter
- c.3730+890G>T Single submitter
- c.4019-835_4019-834insA Single submitter Multiple congenital anomalies
- p.Ala1031Val Single submitter ⚠
- p.Ala1043Thr Single submitter ⚠
- p.Ala1279Thr Single submitter ⚠
- p.Ala755Gly Single submitter
- p.Ala795Val Single submitter
- p.Ala997Thr Single submitter ⚠
- p.Arg1002Leu Single submitter ⚠
- p.Arg1145Leu Single submitter
- p.Arg1254Ser Single submitter
- p.Arg1269Cys Single submitter ⚠
- p.Arg1269Leu Single submitter ⚠
- p.Arg136Gln Single submitter
- p.Arg732Gly Single submitter
- p.Arg734Ser Single submitter ⚠
- p.Asn1330Asp Single submitter
- p.Asn973Ser Single submitter
- p.Asp1186Val Single submitter ⚠
- p.Asp718Glu Single submitter
- p.Asp782Tyr Single submitter ⚠
- p.Asp799His Single submitter ⚠
- p.Gln1171Pro Single submitter
- p.Gln593Lys Single submitter ⚠
- p.Gln951Leu Single submitter
- p.Glu1056Asp Single submitter ⚠
- p.Glu1074Gln Single submitter ⚠
- p.Glu1184Lys Single submitter
- p.Glu1201Gln Single submitter ⚠
- p.Glu1201Lys Single submitter ⚠
- p.Glu699Ala Single submitter ⚠
- p.Glu789Lys Single submitter ⚠
- p.Glu964Asp Single submitter ⚠
- p.Gly1042Ala Single submitter ⚠
- p.Gly1059Ser Single submitter
- p.Gly1270Ser Single submitter
- p.Gly312Ser Single submitter
- p.Gly61Ser Single submitter ⚠
- p.Gly921Val Single submitter ⚠
- p.His1061Gln Single submitter ⚠
- p.His1109Arg Single submitter ⚠
- p.His768Tyr Single submitter ⚠
- p.Ile1028Met Single submitter
- p.Ile1178Val Single submitter ⚠
- p.Ile821Val Single submitter ⚠
- p.Ile828Val Single submitter ⚠
- p.Ile988Leu Single submitter ⚠
- p.Leu1049Val Single submitter ⚠
- p.Leu1097Phe Single submitter ⚠
- p.Leu1097Val Single submitter ⚠
- p.Leu1120Val Single submitter ⚠
- p.Leu280Arg Single submitter
- p.Leu948Phe Single submitter ⚠
- p.Leu998Met Single submitter ⚠
- p.Lys1075Thr Single submitter ⚠
- p.Lys746Arg Single submitter ⚠
- p.Lys746Thr Single submitter ⚠
- p.Lys922Arg Single submitter ⚠
- p.Met1103Thr Single submitter
- p.Met596Ile Single submitter ⚠
- p.Met845Ile Single submitter ⚠
- p.Phe771Ser Single submitter ⚠
- p.Phe979Ser Single submitter ⚠
- p.Pro1062Thr Single submitter ⚠
- p.Pro1080Leu Single submitter ⚠
- p.Pro1110Leu Single submitter ⚠
- p.Pro1119Leu Single submitter ⚠
- p.Pro1137Ser Single submitter ⚠
- p.Pro1204Thr Single submitter ⚠
- p.Pro1295Ser Single submitter ⚠
- p.Pro769Leu Single submitter ⚠
- p.Pro937Arg Single submitter ⚠
- p.Pro937Thr Single submitter ⚠
- p.Ser989Tyr Single submitter ⚠
- p.Thr778Met Single submitter ⚠
- p.Thr824Ile Single submitter ⚠
- p.Thr882Ile Single submitter ⚠
- p.Tyr1138His Single submitter ⚠
- p.Tyr808Phe Single submitter
- p.Tyr881Asn Single submitter ⚠
- p.Tyr886Phe Single submitter ⚠
- p.Val1072Ile Single submitter ⚠
- p.Val1091Met Single submitter ⚠
- p.Val1160Ala Single submitter ⚠
- p.Val1200Ile Single submitter ⚠
- p.Val1250Met Single submitter ⚠
- p.Val1264Met Single submitter
- p.Val1282Ala Single submitter
- p.Val1284Ile Single submitter ⚠
- p.Val1305Met Single submitter ⚠
- p.Val1307Ile Single submitter ⚠
- p.Val759Ala Single submitter
- p.Val885Leu Single submitter ⚠
- c.2053-7021A>G No assertion criteria
- p.Ala952Thr No assertion criteria DCHS2-related disorder
- p.Gly1459Arg No assertion criteria prostate cancer ⚠
- p.Ile802Val No assertion criteria DCHS2-related disorder ⚠
- p.Ser1397Phe No assertion criteria DCHS2-related disorder ⚠