ADCY9 — 195 ClinVar variants

All ClinVar germline ADCY9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 156 flagged for review →

11 Benign · 1 Benign/Likely benign · 19 Likely benign · 164 Uncertain significance

Full ADCY9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 156

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 124

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

Predictors split 32

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

All ADCY9 variants

Benign 11

p.Ala905= Multiple submitters
p.Ile1110= Multiple submitters
p.Leu878= Multiple submitters
p.Phe1161= Multiple submitters
p.Ser661Gly Multiple submitters
p.Thr163= Multiple submitters
p.Gly555= Single submitter
p.Gly61= Single submitter
p.Ser271= Single submitter
p.Ser49= Single submitter
p.Thr925= Single submitter

Benign/Likely benign 1

p.Arg998= Multiple submitters

Likely benign 19

c.2828+4C>G Multiple submitters
p.Lys564Gln Multiple submitters
c.2519+10G>A Single submitter
c.2520-5C>T Single submitter
p.Ala1174= Single submitter
p.Ala147Val Single submitter
p.Ala526= Single submitter
p.Ala902Val Single submitter
p.Arg212Gln Single submitter
p.Arg580Cys Single submitter
p.Asp656Glu Single submitter
p.Leu988= Single submitter
p.Ser900= Single submitter
p.Ser966= Single submitter
p.Thr236= Single submitter
p.Thr813Ala Single submitter
p.Val1165Ile Single submitter
p.Val926Ile Single submitter
p.Val937Ile Single submitter

Uncertain significance 164

p.Ala1116Val Single submitter ⚠
p.Ala169Asp Single submitter ⚠
p.Ala378Gly Single submitter ⚠
p.Ala618Thr Single submitter ⚠
p.Ala645Val Single submitter ⚠
p.Ala811Val Single submitter ⚠
p.Ala820Val Single submitter ⚠
p.Ala822Val Single submitter ⚠
p.Ala836Thr Single submitter ⚠
p.Ala877Ser Single submitter ⚠
p.Ala877Thr Single submitter ⚠
p.Ala975Thr Single submitter ⚠
p.Arg1033Thr Single submitter neurodevelopmental disorder ⚠
p.Arg107Cys Single submitter ⚠
p.Arg115Gln Single submitter ⚠
p.Arg1214His Single submitter ⚠
p.Arg1263His Single submitter ⚠
p.Arg1272Trp Single submitter ⚠
p.Arg1310Ile Single submitter ⚠
p.Arg1321Lys Single submitter ⚠
p.Arg332Ser Single submitter ⚠
p.Arg340Ile Single submitter ⚠
p.Arg455Trp Single submitter ⚠
p.Arg542Trp Single submitter ⚠
p.Arg575Thr Single submitter ⚠
p.Arg604Ser Single submitter ⚠
p.Arg854Cys Single submitter ⚠
p.Arg865Cys Single submitter ⚠
p.Arg865His Single submitter ⚠
p.Arg960Lys Single submitter ⚠
p.Arg969Cys Single submitter ⚠
p.Asn1348Ser Single submitter ⚠
p.Asn687Asp Single submitter ⚠
p.Asn687His Single submitter ⚠
p.Asn748Asp Single submitter ⚠
p.Asn891Asp Single submitter ⚠
p.Asn961Thr Single submitter ⚠
p.Asp1055Tyr Single submitter ⚠
p.Asp1267Gly Single submitter ⚠
p.Asp1332Asn Single submitter ⚠
p.Asp215Tyr Single submitter ⚠
p.Asp421His Single submitter ⚠
p.Asp59Val Single submitter ⚠
p.Asp756Tyr Single submitter ⚠
p.Cys217Trp Single submitter ⚠
p.Cys581Ser Single submitter ⚠
p.Cys633Arg Single submitter ⚠
p.Gln1043His Single submitter ⚠
p.Gln1132Arg Single submitter ⚠
p.Gln1265His Single submitter
p.Gln193Arg Single submitter ⚠
p.Gln562Lys Single submitter ⚠
p.Gln8Arg Single submitter ⚠
p.Gln914Pro Single submitter ⚠
p.Glu1094Asp Single submitter ⚠
p.Glu1329Lys Single submitter ⚠
p.Glu1335Lys Single submitter ⚠
p.Glu353Lys Single submitter ⚠
p.Glu464Lys Single submitter
p.Glu474Asp Single submitter ⚠
p.Glu578Lys Single submitter ⚠
p.Glu646Lys Single submitter ⚠
p.Glu770Gln Single submitter ⚠
p.Glu84Gln Single submitter ⚠
p.Gly1128Ser Single submitter ⚠
p.Gly1220Ser Single submitter ⚠
p.Gly1268Ser Single submitter
p.Gly1294Ser Single submitter ⚠
p.Gly202Ser Single submitter ⚠
p.Gly273Glu Single submitter ⚠
p.Gly524Ala Single submitter ⚠
p.Gly527Ser Single submitter ⚠
p.Gly596Asp Single submitter ⚠
p.Gly605Glu Single submitter ⚠
p.Gly634Arg Single submitter ⚠
p.Gly644Ser Single submitter ⚠
p.Gly675Arg Single submitter ⚠
p.Gly869Arg Single submitter ⚠
p.His1009Asp Single submitter ⚠
p.His1305Gln Single submitter ⚠
p.His137Arg Single submitter ⚠
p.His171Leu Single submitter ⚠
p.His239Pro Single submitter ⚠
p.His288Gln Single submitter ⚠
p.Ile1107Val Single submitter ⚠
p.Ile1258Ser Single submitter ⚠
p.Ile1328Val Single submitter ⚠
p.Ile473Asn Single submitter ⚠
p.Ile473Val Single submitter ⚠
p.Ile871Leu Single submitter ⚠
p.Ile871Val Single submitter ⚠
p.Leu1085Arg Single submitter ⚠
p.Leu234Phe Single submitter ⚠
p.Leu287Pro Single submitter ⚠
p.Leu396Ser Single submitter ⚠
p.Leu588Pro Single submitter ⚠
p.Leu715Val Single submitter
p.Leu759Val Single submitter ⚠
p.Leu835Phe Single submitter ⚠
p.Leu903Pro Single submitter ⚠
p.Leu915His Single submitter ⚠
p.Leu939Pro Single submitter ⚠
p.Leu988Val Single submitter
p.Lys312Arg Single submitter ⚠
p.Lys405Arg Single submitter ⚠
p.Lys481Glu Single submitter ⚠
p.Lys481Thr Single submitter ⚠
p.Lys537Glu Single submitter ⚠
p.Lys671Gln Single submitter ⚠
p.Lys733Arg Single submitter ⚠
p.Lys773Arg Single submitter ⚠
p.Met1146Thr Single submitter ⚠
p.Met1219Ile Single submitter ⚠
p.Met1237Val Single submitter ⚠
p.Met138Leu Single submitter ⚠
p.Phe1139Leu Single submitter ⚠
p.Pro197Ala Single submitter ⚠
p.Pro241Ala Single submitter ⚠
p.Pro366Arg Single submitter
p.Pro817Leu Single submitter ⚠
p.Pro931Ser Single submitter ⚠
p.Pro941Ala Single submitter ⚠
p.Pro949Ala Single submitter ⚠
p.Pro962Gln Single submitter ⚠
p.Pro962Thr Single submitter ⚠
p.Pro968Ser Single submitter ⚠
p.Ser1003Cys Single submitter ⚠
p.Ser1103Asn Single submitter ⚠
p.Ser1195Gly Single submitter ⚠
p.Ser1284Pro Single submitter ⚠
p.Ser1292Pro Single submitter ⚠
p.Ser1307Phe Single submitter ⚠
p.Ser1352Asn Single submitter ⚠
p.Ser219Phe Single submitter ⚠
p.Ser22Cys Single submitter ⚠
p.Ser39Phe Single submitter ⚠
p.Ser579Phe Single submitter ⚠
p.Ser874Leu Single submitter ⚠
p.Ser966Leu Single submitter ⚠
p.Thr1113Met Single submitter ⚠
p.Thr175Ile Single submitter ⚠
p.Thr363Asn Single submitter ⚠
p.Thr890Asn Single submitter ⚠
p.Thr898Ala Single submitter ⚠
p.Trp1312Cys Single submitter ⚠
p.Trp858Cys Single submitter ⚠
p.Tyr118Asn Single submitter ⚠
p.Tyr168Cys Single submitter ⚠
p.Tyr460Cys Single submitter ⚠
p.Tyr538Cys Single submitter
p.Tyr763Cys Single submitter ⚠
p.Tyr809Cys Single submitter ⚠
p.Val1202Met Single submitter ⚠
p.Val1215Ile Single submitter ⚠
p.Val1215Leu Single submitter ⚠
p.Val1282Met Single submitter ⚠
p.Val144Gly Single submitter ⚠
p.Val230Met Single submitter ⚠
p.Val300Asp Single submitter ⚠
p.Val490Leu Single submitter ⚠
p.Val791Met Single submitter
p.Val880Ile Single submitter ⚠
p.Val906Ile Single submitter ⚠
p.Val953Leu Single submitter ⚠