CHD6 — 313 ClinVar variants

All ClinVar germline CHD6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →

1 Conflicting · 13 Benign · 2 Benign/Likely benign · 29 Likely benign · 268 Uncertain significance

Full CHD6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 151

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CHD6 p.Ala2322Thr Conflicting Single submitter

Predictors lean, ClinVar uncertain 140

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 10

The independent predictors disagree with each other — read with care.

All CHD6 variants

Conflicting classifications of pathogenicity 1

p.Ala2322Thr Single submitter ⚠

Benign 13

c.1858-19G>A Multiple submitters
c.852+4T>C Multiple submitters
p.Ala1205Gly Multiple submitters
p.Arg2389Cys Multiple submitters
p.Glu1271= Multiple submitters
p.Glu2404Gln Multiple submitters
p.Gly1519Asp Multiple submitters
p.Gly88= Multiple submitters
p.Ser2645= Multiple submitters
p.Thr1759= Multiple submitters
p.Ala151Thr Single submitter
p.Arg1084= Single submitter
p.Arg915= Single submitter

Benign/Likely benign 2

c.554+5G>A Multiple submitters
p.Pro1209= Multiple submitters

Likely benign 29

c.1314+3A>G Single submitter
c.6939+8T>C Single submitter
c.974+9A>T Single submitter
p.Ala151Val Single submitter
p.Ala2237Thr Single submitter
p.Ala2552= Single submitter
p.Arg1296= Single submitter
p.Arg2095= Single submitter
p.Asn1628Ser Single submitter
p.Asn1727Ser Single submitter
p.Asp1200Asn Single submitter
p.Asp1261Glu Single submitter
p.Asp2036= Single submitter
p.Glu1249Asp Single submitter
p.Glu2704= Single submitter
p.Glu316= Single submitter
p.His1225Gln Single submitter
p.His1942Leu Single submitter
p.Ile1735Val Single submitter
p.Leu1286= Single submitter
p.Leu1859= Single submitter
p.Lys1741Arg Single submitter
p.Ser2247= Single submitter
p.Ser999= Single submitter
p.Thr1189= Single submitter
p.Thr2057= Single submitter
p.Thr231Ala Single submitter
p.Val1366Ile Single submitter
p.Val1665Ile Single submitter

Uncertain significance 268

c.1858-2A>G Single submitter
c.34-2A>G Single submitter
p.Ala1205Thr Single submitter ⚠
p.Ala1279Gly Single submitter
p.Ala1393Thr Single submitter
p.Ala1393Val Single submitter
p.Ala1396Ser Single submitter
p.Ala139Gly Single submitter ⚠
p.Ala151Glu Single submitter ⚠
p.Ala177Val Single submitter ⚠
p.Ala2077Val Single submitter ⚠
p.Ala2154Val Single submitter ⚠
p.Ala2167Thr Single submitter
p.Ala2453Ser Single submitter ⚠
p.Ala2569Val Single submitter ⚠
p.Ala2642Thr Single submitter ⚠
p.Ala2700Thr Single submitter ⚠
p.Ala2706Thr Single submitter ⚠
p.Ala276Thr Single submitter ⚠
p.Ala345Ser Single submitter ⚠
p.Ala68Val Single submitter ⚠
p.Arg1047Ter Single submitter
p.Arg1111Trp Single submitter ⚠
p.Arg1120Gln Single submitter
p.Arg1135Cys Single submitter ⚠
p.Arg122Gln Single submitter ⚠
p.Arg1234Gln Single submitter ⚠
p.Arg1415Gln Single submitter
p.Arg1482His Single submitter ⚠
p.Arg1507Gln Single submitter
p.Arg1511Cys Single submitter
p.Arg1534His Single submitter
p.Arg1541His Single submitter ⚠
p.Arg1546Gln Single submitter
p.Arg1546Trp Single submitter
p.Arg155Gln Single submitter
p.Arg155Pro Single submitter
p.Arg1561His Single submitter
p.Arg1582Gln Single submitter
p.Arg1595Gly Single submitter CHD6-related disorder ⚠
p.Arg1798Ile Single submitter ⚠
p.Arg2095Gly Single submitter ⚠
p.Arg2095His Single submitter
p.Arg2178Ser Single submitter
p.Arg2179His Single submitter
p.Arg2192Gln Single submitter
p.Arg2287Gln Single submitter
p.Arg2291Gln Single submitter
p.Arg2442Ser Single submitter ⚠
p.Arg2442Thr Single submitter ⚠
p.Arg2444Trp Single submitter ⚠
p.Arg2445Gln Single submitter ⚠
p.Arg2447Gln Single submitter
p.Arg440Trp Single submitter ⚠
p.Arg712His Single submitter ⚠
p.Arg74Trp Single submitter
p.Arg763Gln Single submitter
p.Arg838Cys Single submitter ⚠
p.Arg957Gln Single submitter
p.Arg96Trp Single submitter
p.Arg986Gln Single submitter ⚠
p.Asn1298Ser Single submitter
p.Asn1409Ser Single submitter ⚠
p.Asn14Asp Single submitter ⚠
p.Asn1727Asp Single submitter ⚠
p.Asn1776Ser Single submitter ⚠
p.Asn2274Ser Single submitter
p.Asn2426Ile Single submitter ⚠
p.Asn2426Ser Single submitter ⚠
p.Asn248Ser Single submitter ⚠
p.Asn2666Ser Single submitter ⚠
p.Asn2711Ser Single submitter ⚠
p.Asn2711Thr Single submitter ⚠
p.Asn457Ser Single submitter
p.Asn730Thr Single submitter
p.Asn733His Single submitter ⚠
p.Asn80Tyr Single submitter
p.Asp1046Asn Single submitter
p.Asp1072Glu Single submitter
p.Asp1275Asn Single submitter
p.Asp1316Asn Single submitter ⚠
p.Asp1522His Single submitter
p.Asp1610Asn Single submitter ⚠
p.Asp1610Gly Single submitter
p.Asp1733Asn Single submitter ⚠
p.Asp2397Glu Single submitter ⚠
p.Asp2581Gly Single submitter
p.Asp2586Glu Single submitter ⚠
p.Asp2663Asn Single submitter
p.Asp2713Tyr Single submitter
p.Asp314Asn Single submitter
p.Asp50Ala Single submitter
p.Asp769Gly Single submitter ⚠
p.Asp789Asn Single submitter
p.Asp934His Single submitter ⚠
p.Cys1414Phe Single submitter
p.Cys1598Ser Single submitter ⚠
p.Cys1630Tyr Single submitter
p.Gln1617Arg Single submitter
p.Gln1624Arg Single submitter ⚠
p.Gln1624Pro Single submitter ⚠
p.Gln1634Lys Single submitter ⚠
p.Gln188Lys Single submitter
p.Gln2007Arg Single submitter ⚠
p.Gln2261Pro Single submitter ⚠
p.Gln241Arg Single submitter
p.Gln695fs Single submitter
p.Glu1064Lys Single submitter ⚠
p.Glu1246Val Single submitter
p.Glu1271Asp Single submitter ⚠
p.Glu144Gln Single submitter
p.Glu1680Lys Single submitter
p.Glu1729Ala Single submitter ⚠
p.Glu1854Gly Single submitter ⚠
p.Glu1868Val Single submitter
p.Glu1951Lys Single submitter ⚠
p.Glu1958Asp Single submitter
p.Glu1980Gly Single submitter ⚠
p.Glu2002Gly Single submitter ⚠
p.Glu2005Gln Single submitter
p.Glu204Gly Single submitter
p.Glu2052Lys Single submitter
p.Glu2082Asp Single submitter
p.Glu2174Lys Single submitter
p.Glu2697Lys Single submitter
p.Glu2704Asp Single submitter ⚠
p.Glu394Asp Single submitter ⚠
p.Glu700Val Single submitter ⚠
p.Glu916Asp Single submitter ⚠
p.Glu970Lys Single submitter ⚠
p.Gly1363fs Single submitter
p.Gly1365Asp Single submitter
p.Gly1757Arg Single submitter ⚠
p.Gly2037Arg Single submitter
p.Gly2037Glu Single submitter ⚠
p.Gly2202Arg Single submitter ⚠
p.Gly2213Arg Single submitter
p.Gly2225Glu Single submitter
p.Gly2289Arg Single submitter ⚠
p.Gly2471Glu Single submitter
p.Gly2633Ser Single submitter
p.Gly2705Glu Single submitter ⚠
p.Gly940Asp Single submitter
p.Gly959Val Single submitter ⚠
p.His1559Arg Single submitter
p.His1694Gln Single submitter
p.His1863Tyr Single submitter ⚠
p.His1939Pro Single submitter
p.His2212Leu Single submitter
p.His601Gln Single submitter ⚠
p.Ile1106Met Single submitter ⚠
p.Ile1267Met Single submitter ⚠
p.Ile1586Val Single submitter ⚠
p.Ile1774Val Single submitter ⚠
p.Ile1784Val Single submitter ⚠
p.Ile1802Met Single submitter ⚠
p.Ile1802Thr Single submitter ⚠
p.Ile2064Thr Single submitter ⚠
p.Ile2076Val Single submitter
p.Ile2098Thr Single submitter ⚠
p.Leu1170Val Single submitter
p.Leu1569Phe Single submitter
p.Leu1810Ser Single submitter ⚠
p.Leu1917Ser Single submitter ⚠
p.Leu210Phe Single submitter
p.Leu2156Ser Single submitter
p.Leu2252Arg Single submitter
p.Leu2303Ser Single submitter
p.Leu2358Pro Single submitter ⚠
p.Leu2362Arg Single submitter ⚠
p.Leu2416Pro Single submitter ⚠
p.Leu2481Pro Single submitter ⚠
p.Leu2522Val Single submitter ⚠
p.Leu2554Pro Single submitter
p.Leu279Val Single submitter ⚠
p.Leu640Ser Single submitter ⚠
p.Leu964Val Single submitter
p.Lys1102Arg Single submitter
p.Lys117Asn Single submitter
p.Lys1250Arg Single submitter
p.Lys1590Asn Single submitter CHD6-related neurodevelopmental disorder
p.Lys1904Glu Single submitter ⚠
p.Lys195Glu Single submitter
p.Lys2047Glu Single submitter
p.Lys2112Arg Single submitter ⚠
p.Lys2391Glu Single submitter ⚠
p.Lys2579Gln Single submitter ⚠
p.Lys2659Thr Single submitter
p.Lys359= Single submitter
p.Lys94Arg Single submitter
p.Met1130Val Single submitter ⚠
p.Met1270Thr Single submitter ⚠
p.Met1884Ile Single submitter ⚠
p.Met2217Val Single submitter ⚠
p.Met2484Thr Single submitter
p.Met2531Thr Single submitter ⚠
p.Met2626Ile Single submitter ⚠
p.Met2632Thr Single submitter
p.Met335Val Single submitter ⚠
p.Met738Val Single submitter
p.Met739Val Single submitter ⚠
p.Met76Val Single submitter ⚠
p.Phe1252Ser Single submitter
p.Phe1760Cys Single submitter ⚠
p.Phe1823Leu Single submitter ⚠
p.Phe1955Ile Single submitter ⚠
p.Phe2468Leu Single submitter ⚠
p.Phe72Cys Single submitter
p.Pro1079Ser Single submitter
p.Pro145Leu Single submitter
p.Pro1813Arg Single submitter ⚠
p.Pro1985Ala Single submitter ⚠
p.Pro1985Ser Single submitter ⚠
p.Pro1988Thr Single submitter ⚠
p.Pro2014Leu Single submitter ⚠
p.Pro2114Ser Single submitter ⚠
p.Pro2339Ala Single submitter ⚠
p.Pro2383Ala Single submitter
p.Pro2421Ser Single submitter
p.Pro2454Ser Single submitter
p.Pro2551Leu Single submitter
p.Pro2630Ala Single submitter ⚠
p.Pro563Ala Single submitter CHD6-related disorder
p.Pro73Arg Single submitter
p.Pro771Ala Single submitter ⚠
p.Ser111Asn Single submitter ⚠
p.Ser1358Asn Single submitter ⚠
p.Ser1719Pro Single submitter ⚠
p.Ser209Gly Single submitter
p.Ser2116Asn Single submitter ⚠
p.Ser2149Asn Single submitter ⚠
p.Ser2198Cys Single submitter
p.Ser2215Leu Single submitter
p.Ser230Cys Single submitter ⚠
p.Ser2357Asn Single submitter
p.Ser238Leu Single submitter
p.Ser2455Cys Single submitter ⚠
p.Ser2460Pro Single submitter
p.Ser458Asn Single submitter ⚠
p.Ser912Cys Single submitter ⚠
p.Thr1330Asn Single submitter ⚠
p.Thr1339Ala Single submitter ⚠
p.Thr1436Asn Single submitter ⚠
p.Thr1475Asn Single submitter ⚠
p.Thr1524Ala Single submitter ⚠
p.Thr1651Ile Single submitter ⚠
p.Thr1678Ile Single submitter ⚠
p.Thr179Met Single submitter ⚠
p.Thr1894Met Single submitter ⚠
p.Thr2075Ala Single submitter
p.Thr2138Ala Single submitter ⚠
p.Thr217Arg Single submitter ⚠
p.Thr2514Ala Single submitter ⚠
p.Thr2565Ser Single submitter ⚠
p.Thr2660Ala Single submitter ⚠
p.Tyr1269Phe Single submitter
p.Tyr1405His Single submitter ⚠
p.Tyr1708Cys Single submitter ⚠
p.Tyr2086Phe Single submitter ⚠
p.Tyr32Cys Single submitter ⚠
p.Tyr62Cys Single submitter ⚠
p.Val1050Met Single submitter
p.Val1467Ile Single submitter
p.Val17_Leu18insTer Single submitter
p.Val2096Met Single submitter ⚠
p.Val2129Leu Single submitter ⚠
p.Val573Ile Single submitter ⚠
p.Lys1961fs No assertion criteria