ARHGAP35 — 187 ClinVar variants

All ClinVar germline ARHGAP35 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →

10 Pathogenic · 9 Likely pathogenic · 3 Conflicting · 3 Benign · 23 Likely benign · 139 Uncertain significance

Full ARHGAP35 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 130

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 2

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

ARHGAP35 p.Arg1284Pro Conflicting Single submitter
hypogonadotropic hypogonadism 11 with or without anosmia
ARHGAP35 p.Arg1284Trp Conflicting Single submitter
Martsolf syndrome 1

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

ARHGAP35 p.Arg617Ter Conflicting Single submitter
Bilateral microphthalmos

Predictors lean, ClinVar uncertain 97

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

Predictors split 30

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

All ARHGAP35 variants

Pathogenic 10

p.Ala412fs Single submitter
p.Asn946fs Single submitter
p.Gln1067Ter Single submitter
p.Gln1352Ter Single submitter
p.Gln1482fs Single submitter Peters anomaly
p.Gly707fs Single submitter
p.Lys939Ter Single submitter neurodevelopmental disorder
p.Thr1418fs Single submitter Unilateral microphthalmos
p.Trp292Ter Single submitter
p.Val295fs Single submitter

Likely pathogenic 9

p.Arg109Ter Single submitter Martsolf syndrome 1
p.Asn173fs Single submitter Martsolf syndrome 1
p.Gln534Ter Single submitter neurodevelopmental disorder
p.Glu1190fs Single submitter Martsolf syndrome 1
p.Lys118Ter Single submitter Martsolf syndrome 1
p.Tyr116fs Single submitter Martsolf syndrome 1
p.Tyr855Ter Single submitter Martsolf syndrome 1
p.Val1095_Lys1096delinsTer Single submitter Martsolf syndrome 1
p.Val601fs Single submitter Martsolf syndrome 1

Conflicting classifications of pathogenicity 3

p.Arg1284Pro Single submitter hypogonadotropic hypogonadism 11 with or without anosmia ⚠
p.Arg1284Trp Single submitter Martsolf syndrome 1 ⚠
p.Arg617Ter Single submitter Bilateral microphthalmos ⚠

Benign 3

p.Arg1164= Multiple submitters
p.Leu125= Multiple submitters
p.Pro581= Multiple submitters

Likely benign 23

c.3682-18T>C Single submitter
c.3827-15C>T Single submitter
c.4143-4G>A Single submitter
p.Ala1414Thr Single submitter Martsolf syndrome 1 ⚠
p.Ala1454= Single submitter
p.Ala613= Single submitter
p.Arg871= Single submitter
p.Asp1340Asn Single submitter Martsolf syndrome 1
p.His813= Single submitter
p.Ile989Thr Single submitter
p.Leu646= Single submitter
p.Lys298= Single submitter
p.Phe216= Single submitter
p.Pro1206= Single submitter
p.Pro1433Ala Single submitter Martsolf syndrome 1
p.Ser1472= Single submitter
p.Thr55= Single submitter
p.Thr621= Single submitter
p.Thr685= Single submitter
p.Thr685Met Single submitter
p.Tyr1207= Single submitter
p.Val551= Single submitter
p.Val837Ile Single submitter

Uncertain significance 139

p.Ala1125Thr Single submitter ⚠
p.Ala1125Val Single submitter ⚠
p.Ala1203Val Single submitter ⚠
p.Ala1240Thr Single submitter ⚠
p.Ala1447Thr Single submitter ⚠
p.Ala1495Ser Single submitter ⚠
p.Ala435Val Single submitter ⚠
p.Ala538Gly Single submitter ⚠
p.Ala778Val Single submitter ⚠
p.Ala892Thr Single submitter ⚠
p.Arg1068Thr Single submitter ⚠
p.Arg109Gln Single submitter ⚠
p.Arg1234Gln Single submitter ⚠
p.Arg1234Trp Single submitter ⚠
p.Arg1350Gln Single submitter Martsolf syndrome 1 ⚠
p.Arg1350Trp Single submitter ⚠
p.Arg1419Cys Single submitter Martsolf syndrome 1 ⚠
p.Arg1439Gln Single submitter ⚠
p.Arg251Gln Single submitter ⚠
p.Arg297Gln Single submitter ⚠
p.Arg327Gly Single submitter ⚠
p.Arg424Lys Single submitter ⚠
p.Arg433Ter Single submitter
p.Arg434fs Single submitter
p.Arg434Lys Single submitter ⚠
p.Arg580Gln Single submitter ⚠
p.Arg580Trp Single submitter ⚠
p.Arg584Gln Single submitter ⚠
p.Arg584Trp Single submitter ⚠
p.Arg610Gln Single submitter ⚠
p.Arg689Gln Single submitter ⚠
p.Arg689Gly Single submitter ⚠
p.Arg744Cys Single submitter
p.Arg763His Single submitter ⚠
p.Arg972Gly Single submitter ⚠
p.Arg972Leu Single submitter ⚠
p.Arg997Pro Single submitter ⚠
p.Asn1034Lys Single submitter ⚠
p.Asn1123Ser Single submitter ⚠
p.Asn1128Thr Single submitter ⚠
p.Asn15His Single submitter ⚠
p.Asn183Ser Single submitter ⚠
p.Asn287Ser Single submitter ⚠
p.Asn289Ser Single submitter ⚠
p.Asn898Asp Single submitter ⚠
p.Asn969His Single submitter ⚠
p.Asp1008Asn Single submitter ⚠
p.Asp53Asn Single submitter
p.Asp567Glu Single submitter ⚠
p.Cys1432Arg Single submitter Anophthalmia ⚠
p.Cys961Gly Single submitter ⚠
p.Gln1067Arg Single submitter ⚠
p.Gln1475Arg Single submitter ⚠
p.Gln884Glu Single submitter
p.Glu1017Gln Single submitter ⚠
p.Glu1394Ter Single submitter
p.Glu413Gly Single submitter ⚠
p.Glu441Gly Single submitter ⚠
p.Glu49Lys Single submitter ⚠
p.Glu679fs Single submitter
p.Glu679Lys Single submitter ⚠
p.Glu683fs Single submitter
p.Glu943Gly Single submitter
p.Gly153Arg Single submitter ⚠
p.Gly891Ser Single submitter ⚠
p.Gly917Ala Single submitter ⚠
p.Gly974Glu Single submitter ⚠
p.His1109Gln Single submitter ⚠
p.His1369Asp Single submitter Martsolf syndrome 1 ⚠
p.His1497Asn Single submitter ⚠
p.His1497Tyr Single submitter ⚠
p.His324Tyr Single submitter ⚠
p.His330Arg Single submitter ⚠
p.His692Arg Single submitter ⚠
p.Ile1122Leu Single submitter ⚠
p.Ile1339Met Single submitter ⚠
p.Ile1424Val Single submitter ⚠
p.Ile570Met Single submitter ⚠
p.Ile724Thr Single submitter ⚠
p.Ile746Thr Single submitter ⚠
p.Ile774Val Single submitter ⚠
p.Ile799Leu Single submitter ⚠
p.Ile826Val Single submitter ⚠
p.Ile883Val Single submitter ⚠
p.Ile989Val Single submitter ⚠
p.Leu1059Ser Single submitter ⚠
p.Leu139Pro Single submitter ⚠
p.Leu52Val Single submitter ⚠
p.Leu573Ser Single submitter ⚠
p.Leu758Phe Single submitter ⚠
p.Lys1362Asn Single submitter ⚠
p.Lys286Arg Single submitter ⚠
p.Met1014Val Single submitter ⚠
p.Met1412Thr Single submitter Martsolf syndrome 1 ⚠
p.Met397Val Single submitter ⚠
p.Met460Leu Single submitter ⚠
p.Met869Val Single submitter ⚠
p.Met953Val Single submitter ⚠
p.Pro1045Leu Single submitter ⚠
p.Pro1331Leu Single submitter Martsolf syndrome 1 ⚠
p.Pro151Ala Single submitter ⚠
p.Pro194fs Single submitter
p.Pro345Leu Single submitter ⚠
p.Pro581Leu Single submitter ⚠
p.Pro639Arg Single submitter ⚠
p.Pro802fs Single submitter
p.Pro976Leu Single submitter ⚠
p.Ser1136Gly Single submitter ⚠
p.Ser1451Cys Single submitter ⚠
p.Ser1464Cys Single submitter ⚠
p.Ser1476Leu Single submitter ⚠
p.Ser1476Thr Single submitter ⚠
p.Ser182Phe Single submitter ⚠
p.Ser681Asn Single submitter ⚠
p.Ser684Cys Single submitter ⚠
p.Ser752Gly Single submitter ⚠
p.Ser80Ile Single submitter ⚠
p.Ser992Pro Single submitter ⚠
p.Thr1279Met Single submitter ⚠
p.Thr1416Ile Single submitter ⚠
p.Thr1420Ser Single submitter ⚠
p.Thr1463Pro Single submitter ⚠
p.Thr1465Lys Single submitter ⚠
p.Thr1480Ile Single submitter ⚠
p.Thr1498Met Single submitter ⚠
p.Thr653Met Single submitter ⚠
p.Thr709Ala Single submitter ⚠
p.Thr889Ala Single submitter ⚠
p.Trp1076Ser Single submitter ⚠
p.Tyr209Cys Single submitter ⚠
p.Val1107Met Single submitter ⚠
p.Val1177Met Single submitter ⚠
p.Val1375Ile Single submitter ⚠
p.Val1455Met Single submitter ⚠
p.Val225Ala Single submitter ⚠
p.Val43Met Single submitter
p.Ala872Thr No assertion criteria ARHGAP35-related condition ⚠
p.Pro1039Leu No assertion criteria ARHGAP35-related condition ⚠
p.Pro654Thr No assertion criteria breast ductal adenocarcinoma