MAN2A1 — 166 ClinVar variants

All ClinVar germline MAN2A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →

1 Benign · 11 Likely benign · 154 Uncertain significance

Full MAN2A1 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 lean, ClinVar uncertain 120

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

Predictors split 31

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

All MAN2A1 variants

Benign 1

c.2567-9T>A Single submitter

Likely benign 11

p.Ala1021Thr Single submitter
p.Arg401Gln Single submitter
p.Asn1060Ser Single submitter
p.Glu1030Gln Single submitter
p.Gly757Asp Single submitter
p.Ile854Val Single submitter
p.Leu403= Single submitter
p.Leu656Ser Single submitter
p.Pro824Leu Single submitter
p.Thr1110Ile Single submitter
p.Tyr667Cys Single submitter

Uncertain significance 154

p.Ala317Thr Single submitter ⚠
p.Ala470Val Single submitter ⚠
p.Ala879Val Single submitter ⚠
p.Ala928Val Single submitter ⚠
p.Ala937Val Single submitter ⚠
p.Arg1078Gln Single submitter ⚠
p.Arg1078Trp Single submitter ⚠
p.Arg1140Gln Single submitter ⚠
p.Arg208Gln Single submitter ⚠
p.Arg283Gln Single submitter ⚠
p.Arg28Gln Single submitter ⚠
p.Arg303His Single submitter ⚠
p.Arg401Trp Single submitter ⚠
p.Arg408Gln Single submitter ⚠
p.Arg408Leu Single submitter
p.Arg415His Single submitter ⚠
p.Arg516Gln Single submitter ⚠
p.Arg60Leu Single submitter ⚠
p.Arg660Gln Single submitter ⚠
p.Arg707Gln Single submitter ⚠
p.Arg768Gln Single submitter ⚠
p.Arg833Ser Single submitter ⚠
p.Arg876His Single submitter ⚠
p.Asn176Ser Single submitter ⚠
p.Asn197Lys Single submitter ⚠
p.Asn276Ser Single submitter ⚠
p.Asn302His Single submitter ⚠
p.Asn545Asp Single submitter ⚠
p.Asn601Ser Single submitter ⚠
p.Asn65Ser Single submitter ⚠
p.Asn762Lys Single submitter ⚠
p.Asp133Gly Single submitter ⚠
p.Asp162Asn Single submitter ⚠
p.Asp265Glu Single submitter ⚠
p.Asp469Glu Single submitter ⚠
p.Asp469Gly Single submitter ⚠
p.Asp480His Single submitter ⚠
p.Asp498Asn Single submitter ⚠
p.Asp501Gly Single submitter ⚠
p.Asp659Asn Single submitter ⚠
p.Asp692Gly Single submitter ⚠
p.Cys116Arg Single submitter ⚠
p.Cys382Arg Single submitter ⚠
p.Gln47Pro Single submitter ⚠
p.Gln52Pro Single submitter ⚠
p.Gln674Glu Single submitter ⚠
p.Gln855Leu Single submitter ⚠
p.Gln855Pro Single submitter ⚠
p.Gln971Arg Single submitter ⚠
p.Glu40Gly Single submitter ⚠
p.Gly1033Asp Single submitter ⚠
p.Gly1033Ser Single submitter ⚠
p.Gly1122Ser Single submitter ⚠
p.Gly11Val Single submitter ⚠
p.Gly285Ala Single submitter ⚠
p.Gly29Ser Single submitter ⚠
p.Gly680Ala Single submitter ⚠
p.Gly744Arg Single submitter ⚠
p.Gly97Asp Single submitter ⚠
p.His1015Tyr Single submitter ⚠
p.His101Asn Single submitter ⚠
p.His125Arg Single submitter ⚠
p.His308Arg Single submitter ⚠
p.His347Tyr Single submitter ⚠
p.His709Arg Single submitter ⚠
p.His844Arg Single submitter ⚠
p.Ile1054Met Single submitter ⚠
p.Ile1126Val Single submitter ⚠
p.Ile1141Met Single submitter ⚠
p.Ile14Val Single submitter ⚠
p.Ile225Val Single submitter ⚠
p.Ile228Thr Single submitter ⚠
p.Ile278Met Single submitter ⚠
p.Ile391Val Single submitter ⚠
p.Ile544Val Single submitter ⚠
p.Ile599Met Single submitter ⚠
p.Ile607Val Single submitter ⚠
p.Ile710Thr Single submitter ⚠
p.Ile710Val Single submitter ⚠
p.Ile758Val Single submitter ⚠
p.Ile925Leu Single submitter ⚠
p.Leu1029Phe Single submitter ⚠
p.Leu300Val Single submitter ⚠
p.Leu306Val Single submitter ⚠
p.Leu437Ser Single submitter ⚠
p.Leu62Val Single submitter ⚠
p.Leu851Arg Single submitter ⚠
p.Leu940Ser Single submitter ⚠
p.Lys210Arg Single submitter ⚠
p.Lys804Arg Single submitter ⚠
p.Met1020Val Single submitter ⚠
p.Met199Val Single submitter ⚠
p.Met297Thr Single submitter ⚠
p.Met485Arg Single submitter ⚠
p.Met50Val Single submitter ⚠
p.Met919Val Single submitter ⚠
p.Phe10Leu Single submitter
p.Phe10Val Single submitter ⚠
p.Phe43Leu Single submitter ⚠
p.Phe547Leu Single submitter ⚠
p.Phe980Ile Single submitter ⚠
p.Phe980Leu Single submitter ⚠
p.Pro172Thr Single submitter ⚠
p.Pro258Leu Single submitter ⚠
p.Pro282Thr Single submitter ⚠
p.Pro37Leu Single submitter ⚠
p.Pro387Arg Single submitter ⚠
p.Pro387Leu Single submitter ⚠
p.Pro393Ser Single submitter ⚠
p.Pro44Ala Single submitter ⚠
p.Pro671Leu Single submitter ⚠
p.Pro711Leu Single submitter ⚠
p.Pro825Ala Single submitter ⚠
p.Pro87Leu Single submitter ⚠
p.Pro911Thr Single submitter ⚠
p.Ser1006Thr Single submitter ⚠
p.Ser136Gly Single submitter ⚠
p.Ser139Cys Single submitter ⚠
p.Ser284Cys Single submitter ⚠
p.Ser42Cys Single submitter ⚠
p.Ser453Thr Single submitter ⚠
p.Ser453Tyr Single submitter ⚠
p.Ser662Ala Single submitter ⚠
p.Ser679Ala Single submitter ⚠
p.Ser743Gly Single submitter ⚠
p.Ser763Cys Single submitter ⚠
p.Ser763Tyr Single submitter ⚠
p.Ser908Arg Single submitter ⚠
p.Ser943Leu Single submitter ⚠
p.Thr1091Ala Single submitter ⚠
p.Thr155Asn Single submitter ⚠
p.Thr433Met Single submitter ⚠
p.Thr586Ser Single submitter ⚠
p.Thr672Ile Single submitter ⚠
p.Thr780Ala Single submitter ⚠
p.Thr920Asn Single submitter ⚠
p.Trp161Arg Single submitter ⚠
p.Trp180Leu Single submitter ⚠
p.Trp691Gly Single submitter ⚠
p.Tyr1001Cys Single submitter ⚠
p.Tyr1001Phe Single submitter ⚠
p.Tyr156Asp Single submitter
p.Tyr429Phe Single submitter ⚠
p.Tyr653Cys Single submitter ⚠
p.Tyr718Cys Single submitter ⚠
p.Tyr917Cys Single submitter ⚠
p.Tyr924Cys Single submitter ⚠
p.Val314Ile Single submitter ⚠
p.Val651Leu Single submitter ⚠
p.Val683Ala Single submitter ⚠
p.Val791Met Single submitter ⚠
p.Val849Ile Single submitter ⚠
p.Val868Met Single submitter ⚠
p.Val916Ile Single submitter ⚠