COG7 — 602 ClinVar variants

All ClinVar germline COG7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 220 flagged for review →

16 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 35 Conflicting · 27 Benign · 12 Benign/Likely benign · 265 Likely benign · 236 Uncertain significance

Full COG7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 220

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

COG7 p.Ala606Asp Pathogenic/Likely pathogenic Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Asp349Gly Likely pathogenic Single submitter
COG7-congenital disorder of glycosylation

Predictors agree, ClinVar conflicts 9

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

COG7 p.Ala136Thr Conflicting Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ala658Thr Conflicting Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ala696Val Conflicting Single submitter
Inborn genetic diseases
COG7 p.Ala708Thr Conflicting Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Arg313Lys Conflicting Single submitter
COG7-congenital disorder of glycosylation
COG7 p.His393Arg Conflicting Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ile284Phe Conflicting Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ile469Val Conflicting Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Val302Met Conflicting Single submitter
COG7-congenital disorder of glycosylation

Predictors lean, ClinVar uncertain 176

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 176

COG7 p.Ala194Val Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Ala20Val Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Ala222Thr Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Ala29Val Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Ala325Thr Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Ala570Val Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Ala658Gly Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Arg216Trp Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Arg480Trp Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Arg589Cys Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Arg731His Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Arg748Lys Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Arg756Cys Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Arg757Cys Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Arg766Gln Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Arg766Trp Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Asp129Gly Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Asp202Gly Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Asp319Asn Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Asp364Asn Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Cys482Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Gln241Lys Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Gln273Arg Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Glu486Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Gly301Ser Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Gly609Arg Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.His335Asp Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Ile147Val Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Ile265Met Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Ile549Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Ile549Val Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Ile608Val Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Leu250Phe Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Leu510Pro Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Leu553Ile Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Leu612Phe Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Lys226Arg Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Lys521Asn Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Lys526Arg Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Met690Val Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Met765Val Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Phe317Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Pro334Ser Uncertain significance Multiple submitters
COG7-related disorder
COG7 p.Ser598Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Ser650Pro Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Ser81Ala Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Thr463Met Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Thr738Met Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Tyr500Cys Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Val175Leu Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Ala148Gly Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ala152Val Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ala268Ser Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ala29Pro Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Ala322Thr Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ala331Thr Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Ala402Val Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ala430Ser Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Ala511Gly Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ala566Val Uncertain significance Single submitter
COG7 p.Ala606Val Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Ala763Ser Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Arg216Gln Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Arg248Gln Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Arg508Gln Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Arg508Trp Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Arg568Gln Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Arg71Gly Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Arg71His Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Arg756His Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Arg757His Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Asn369Ser Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Asn414Ser Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Asn455Lys Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Asn455Ser Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Asn491Ile Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Asp137Asn Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Asp353Gly Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Asp584Asn Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Asp716Asn Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Gln119His Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Gln237Glu Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Gln266Lys Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Gln667Arg Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Gln699His Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Glu27Gly Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Glu303Gly Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Glu308Lys Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Glu477Lys Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Glu555Gly Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Glu56Gly Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Glu625Lys Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Glu670Gly Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Glu702Asp Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Gly252Arg Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Gly288Glu Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Gly327Ser Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Gly420Ala Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Gly476Arg Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Gly483Glu Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Gly607Ala Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Gly609Glu Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Gly753Val Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.His335Tyr Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.His337Tyr Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.His393Tyr Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.His53Gln Uncertain significance Single submitter
COG7 p.His561Gln Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.His657Arg Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ile138Val Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ile147Leu Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Ile517Met Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Ile627Val Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Ile94Met Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Leu125Val Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Leu282Pro Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Leu332Val Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Leu379Val Uncertain significance Single submitter
COG7 p.Leu391Val Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Leu421Val Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Leu428Pro Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Leu440Pro Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Leu501Ile Uncertain significance Single submitter
COG7 p.Leu510Met Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Leu564Arg Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Leu718Pro Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Lys115Arg Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Lys153Met Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Lys205Thr Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Lys209Arg Uncertain significance Single submitter
COG7 p.Lys356Arg Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Lys445Asn Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Lys5Thr Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Lys660Glu Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Met105Leu Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Met280Val Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Met365Val Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Met547Lys Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Met547Val Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Pro357Thr Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Pro453Ala Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Pro528Ser Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Pro567Ser Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Pro672Ser Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Pro729Ser Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ser25Phe Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ser504Cys Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ser59Arg Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ser650Cys Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Thr141Ile Uncertain significance Single submitter
COG7-congenital disorder of glycosylation

Predictors split 33

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

COG7 p.Ala37Thr Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Ala686Thr Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Arg573Trp Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Asn527Lys Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Glu277Lys Uncertain significance Multiple submitters
Inborn genetic diseases
COG7 p.Phe324Leu Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Thr58Arg Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Val395Met Uncertain significance Multiple submitters
COG7-congenital disorder of glycosylation
COG7 p.Ala490Pro Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Arg248Trp Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Arg492Trp Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Arg568Pro Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Asn18Asp Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Asn467Lys Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Glu625Gln Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Gly420Val Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ile17Met Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ile700Thr Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Leu253His Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Leu332Arg Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Leu332Pro Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Leu494Phe Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Lys431Asn Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Lys709Asn Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Lys77Glu Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Phe412Leu Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Phe436Cys Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ser124Tyr Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ser245Phe Uncertain significance Single submitter
COG7-congenital disorder of glycosylation
COG7 p.Ser495Pro Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Val114Leu Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Val13Glu Uncertain significance Single submitter
Inborn genetic diseases
COG7 p.Val210Met Uncertain significance Single submitter
COG7-congenital disorder of glycosylation

All COG7 variants

Pathogenic 16

p.Leu108fs Multiple submitters COG7-congenital disorder of glycosylation
c.1476-1G>T Single submitter COG7-congenital disorder of glycosylation
c.169+4A>C Single submitter COG7-congenital disorder of glycosylation
p.Arg568Ter Single submitter COG7-congenital disorder of glycosylation
p.Cys419fs Single submitter COG7-congenital disorder of glycosylation
p.Gln441Ter Single submitter
p.Gln459fs Single submitter COG7-congenital disorder of glycosylation
p.Gln667Ter Single submitter COG7-congenital disorder of glycosylation
p.Glu27Ter Single submitter COG7-congenital disorder of glycosylation
p.Leu232_Leu233insTer Single submitter COG7-congenital disorder of glycosylation
p.Leu595Ter Single submitter COG7-congenital disorder of glycosylation
p.Lys115delinsIleProLeuProLeuProSerProSerProSerProValSerArgSerLeuSerArgLeuProLeuProLeuProGlyProSerProAlaArgGlyXaaXaaXaaXaaLysLysLysLysLysLysArgAsnTer Single submitter COG7-congenital disorder of glycosylation
p.Ser558Ter Single submitter COG7-congenital disorder of glycosylation
p.Trp603Ter Single submitter COG7-congenital disorder of glycosylation
p.Tyr223Ter Single submitter COG7-congenital disorder of glycosylation
p.Tyr500fs Single submitter COG7-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 2

p.Ala606Asp Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Arg444Ter Multiple submitters COG7-congenital disorder of glycosylation

Likely pathogenic 9

c.318+1G>A Multiple submitters COG7-congenital disorder of glycosylation
c.1009+1G>A Single submitter COG7-congenital disorder of glycosylation
c.1410-2A>T Single submitter COG7-congenital disorder of glycosylation
c.1887+1G>A Single submitter COG7-congenital disorder of glycosylation
c.1888-1G>T Single submitter COG7-congenital disorder of glycosylation
c.687+1G>A Single submitter COG7-congenital disorder of glycosylation
p.Asp349Gly Single submitter COG7-congenital disorder of glycosylation ⚠
p.Gln389fs Single submitter
p.Leu283Arg Single submitter COG7-congenital disorder of glycosylation

Conflicting classifications of pathogenicity 35

c.1137+11A>C Single submitter COG7-congenital disorder of glycosylation
c.1137+9G>A Single submitter COG7-congenital disorder of glycosylation
c.1409+6C>G Single submitter Inborn genetic diseases
c.1410-6G>C Single submitter COG7-congenital disorder of glycosylation
c.1476-3C>T Single submitter COG7-congenital disorder of glycosylation
c.170-4A>G Single submitter COG7-congenital disorder of glycosylation
c.170-7A>G Single submitter COG7-congenital disorder of glycosylation
c.1804-13G>A Single submitter COG7-congenital disorder of glycosylation
c.319-12C>T Single submitter COG7-congenital disorder of glycosylation
c.435+2T>C Single submitter Inborn genetic diseases
c.687+14C>T Single submitter COG7-congenital disorder of glycosylation
p.Ala136Thr Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ala658Thr Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ala696Val Single submitter Inborn genetic diseases ⚠
p.Ala708Thr Single submitter COG7-congenital disorder of glycosylation ⚠
p.Arg313Lys Single submitter COG7-congenital disorder of glycosylation ⚠
p.Asn300= Single submitter COG7-congenital disorder of glycosylation
p.Asp435= Single submitter COG7-congenital disorder of glycosylation
p.Gln389= Single submitter COG7-congenital disorder of glycosylation
p.His335= Single submitter COG7-congenital disorder of glycosylation
p.His393Arg Single submitter COG7-congenital disorder of glycosylation ⚠
p.His657= Single submitter COG7-congenital disorder of glycosylation
p.Ile284Phe Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ile469Val Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ile736= Single submitter COG7-congenital disorder of glycosylation
p.Leu371= Single submitter COG7-congenital disorder of glycosylation
p.Lys431= Single submitter Inborn genetic diseases
p.Phe485= Single submitter COG7-congenital disorder of glycosylation
p.Pro617= Single submitter COG7-congenital disorder of glycosylation
p.Ser684= Single submitter COG7-congenital disorder of glycosylation
p.Thr321= Single submitter COG7-congenital disorder of glycosylation
p.Thr761= Single submitter COG7-congenital disorder of glycosylation
p.Tyr352Ter Single submitter COG7-congenital disorder of glycosylation
p.Tyr543= Single submitter COG7-congenital disorder of glycosylation
p.Val302Met Single submitter COG7-congenital disorder of glycosylation ⚠

Benign 27

c.1293-314C>T Multiple submitters
c.169+18del Multiple submitters COG7-congenital disorder of glycosylation
c.170-10_170-9del Multiple submitters COG7-congenital disorder of glycosylation
c.170-9del Multiple submitters COG7-congenital disorder of glycosylation
c.1803+196G>A Multiple submitters
c.2146+191C>T Multiple submitters
c.2147-87G>T Multiple submitters
c.319-63C>G Multiple submitters
c.319-93A>G Multiple submitters
c.810+158C>T Multiple submitters
c.811-90G>A Multiple submitters
c.*187A>G Multiple submitters COG7-congenital disorder of glycosylation
c.*47C>T Multiple submitters COG7-congenital disorder of glycosylation
p.Pro701= Multiple submitters COG7-congenital disorder of glycosylation
p.Thr605Met Multiple submitters COG7-congenital disorder of glycosylation
c.1292+230A>G Single submitter
c.170-301G>A Single submitter
c.2002+199C>T Single submitter
c.2003-279C>T Single submitter
c.2146+10del Single submitter COG7-congenital disorder of glycosylation
c.436-155A>G Single submitter
c.604+142_604+143del Single submitter
c.604+143del Single submitter
c.688-165_688-164dup Single submitter
c.688-165dup Single submitter
c.810+16del Single submitter COG7-congenital disorder of glycosylation
c.*295del Single submitter

Benign/Likely benign 12

c.1137+8C>T Multiple submitters COG7-congenital disorder of glycosylation
c.170-11_170-9del Multiple submitters
c.1803+15G>A Multiple submitters COG7-congenital disorder of glycosylation
c.1888-17G>A Multiple submitters COG7-congenital disorder of glycosylation
c.687+7A>C Multiple submitters COG7-congenital disorder of glycosylation
c.811-14C>G Multiple submitters COG7-congenital disorder of glycosylation
c.*9C>A Multiple submitters COG7-congenital disorder of glycosylation
p.Ala618Thr Multiple submitters Inborn genetic diseases
p.Glu178= Multiple submitters COG7-congenital disorder of glycosylation
p.Gly363= Multiple submitters COG7-congenital disorder of glycosylation
p.Val175= Multiple submitters COG7-congenital disorder of glycosylation
p.Val279Ile Multiple submitters COG7-congenital disorder of glycosylation

Likely benign 265

c.1010-19C>T Multiple submitters COG7-congenital disorder of glycosylation
c.1137+11A>G Multiple submitters COG7-congenital disorder of glycosylation
c.1292+28G>T Multiple submitters
c.1292+36T>C Multiple submitters
c.1292+95T>C Multiple submitters
c.1293-6C>T Multiple submitters COG7-congenital disorder of glycosylation
c.1409+7C>G Multiple submitters COG7-congenital disorder of glycosylation
c.1409+7C>T Multiple submitters COG7-congenital disorder of glycosylation
c.1409+8G>A Multiple submitters COG7-congenital disorder of glycosylation
c.1410-17C>A Multiple submitters COG7-congenital disorder of glycosylation
c.1475+14G>A Multiple submitters COG7-congenital disorder of glycosylation
c.1663-152G>A Multiple submitters
c.170-134A>G Multiple submitters
c.170-20T>C Multiple submitters COG7-congenital disorder of glycosylation
c.170-23T>G Multiple submitters
c.1804-13G>T Multiple submitters COG7-congenital disorder of glycosylation
c.2147-11C>T Multiple submitters COG7-congenital disorder of glycosylation
c.319-11G>A Multiple submitters COG7-congenital disorder of glycosylation
c.319-18C>A Multiple submitters COG7-congenital disorder of glycosylation
c.687+16C>T Multiple submitters COG7-congenital disorder of glycosylation
c.810+6del Multiple submitters COG7-congenital disorder of glycosylation
p.Ala122= Multiple submitters COG7-congenital disorder of glycosylation
p.Ala402= Multiple submitters COG7-congenital disorder of glycosylation
p.Ala688= Multiple submitters COG7-congenital disorder of glycosylation
p.Asn629= Multiple submitters Inborn genetic diseases
p.Glu531= Multiple submitters COG7-congenital disorder of glycosylation
p.Leu120= Multiple submitters COG7-congenital disorder of glycosylation
p.Leu501= Multiple submitters COG7-congenital disorder of glycosylation
p.Pro307= Multiple submitters COG7-congenital disorder of glycosylation
p.Pro662= Multiple submitters COG7-congenital disorder of glycosylation
p.Pro729= Multiple submitters COG7-congenital disorder of glycosylation
p.Ser135= Multiple submitters COG7-congenital disorder of glycosylation
p.Ser189= Multiple submitters COG7-congenital disorder of glycosylation
c.1009+14C>T Single submitter COG7-congenital disorder of glycosylation
c.1009+15C>T Single submitter COG7-congenital disorder of glycosylation
c.1010-13T>C Single submitter COG7-congenital disorder of glycosylation
c.1010-18A>G Single submitter COG7-congenital disorder of glycosylation
c.1137+212C>T Single submitter
c.1138-11T>C Single submitter COG7-congenital disorder of glycosylation
c.1138-15G>A Single submitter COG7-congenital disorder of glycosylation
c.1138-17C>T Single submitter COG7-congenital disorder of glycosylation
c.1138-19G>A Single submitter COG7-congenital disorder of glycosylation
c.1138-4C>A Single submitter COG7-congenital disorder of glycosylation
c.1138-7T>C Single submitter COG7-congenital disorder of glycosylation
c.1138-8C>T Single submitter COG7-congenital disorder of glycosylation
c.1292+12G>A Single submitter COG7-congenital disorder of glycosylation
c.1292+14A>G Single submitter COG7-congenital disorder of glycosylation
c.1292+16T>C Single submitter COG7-congenital disorder of glycosylation
c.1292+17G>A Single submitter COG7-congenital disorder of glycosylation
c.1293-17C>T Single submitter COG7-congenital disorder of glycosylation
c.1293-4G>A Single submitter COG7-congenital disorder of glycosylation
c.1293-8C>G Single submitter COG7-congenital disorder of glycosylation
c.1409+15G>A Single submitter COG7-congenital disorder of glycosylation
c.1409+19T>G Single submitter COG7-congenital disorder of glycosylation
c.1409+202C>T Single submitter
c.1410-17dup Single submitter COG7-congenital disorder of glycosylation
c.1475+11G>A Single submitter COG7-congenital disorder of glycosylation
c.1475+12G>A Single submitter
c.1476-16A>G Single submitter COG7-congenital disorder of glycosylation
c.1476-253_1476-252del Single submitter
c.1476-7A>G Single submitter COG7-congenital disorder of glycosylation
c.1662+13A>G Single submitter COG7-congenital disorder of glycosylation
c.1662+13del Single submitter COG7-congenital disorder of glycosylation
c.1662+15G>A Single submitter COG7-congenital disorder of glycosylation
c.1662+7G>A Single submitter COG7-congenital disorder of glycosylation
c.1662+9C>T Single submitter COG7-congenital disorder of glycosylation
c.1663-15A>G Single submitter COG7-congenital disorder of glycosylation
c.1663-17G>A Single submitter COG7-congenital disorder of glycosylation
c.1663-5C>T Single submitter COG7-congenital disorder of glycosylation
c.169+18C>G Single submitter COG7-congenital disorder of glycosylation
c.169+20G>A Single submitter COG7-congenital disorder of glycosylation
c.169+8G>T Single submitter COG7-congenital disorder of glycosylation
c.170-19T>C Single submitter COG7-congenital disorder of glycosylation
c.170-26del Single submitter
c.170-9dup Single submitter
c.1803+16A>G Single submitter COG7-congenital disorder of glycosylation
c.1804-14C>T Single submitter COG7-congenital disorder of glycosylation
c.1804-16C>G Single submitter
c.1804-5del Single submitter COG7-congenital disorder of glycosylation
c.1804-9C>T Single submitter COG7-congenital disorder of glycosylation
c.1887+13G>T Single submitter COG7-congenital disorder of glycosylation
c.1887+15G>A Single submitter COG7-congenital disorder of glycosylation
c.1888-13dup Single submitter COG7-congenital disorder of glycosylation
c.1888-15T>C Single submitter COG7-congenital disorder of glycosylation
c.1888-16C>T Single submitter COG7-congenital disorder of glycosylation
c.1888-18C>T Single submitter COG7-congenital disorder of glycosylation
c.2002+140A>G Single submitter
c.2002+14G>A Single submitter COG7-congenital disorder of glycosylation
c.2002+18C>T Single submitter COG7-congenital disorder of glycosylation
c.2002+7G>A Single submitter COG7-congenital disorder of glycosylation
c.2003-13del Single submitter COG7-congenital disorder of glycosylation
c.2003-14_2003-12del Single submitter COG7-congenital disorder of glycosylation
c.2003-20T>C Single submitter COG7-congenital disorder of glycosylation
c.2003-9T>G Single submitter COG7-congenital disorder of glycosylation
c.2146+23G>A Single submitter
c.2146+8C>A Single submitter COG7-congenital disorder of glycosylation
c.2146+8C>T Single submitter COG7-congenital disorder of glycosylation
c.2146+9C>G Single submitter COG7-congenital disorder of glycosylation
c.2146+9C>T Single submitter COG7-congenital disorder of glycosylation
c.2147-10_2147-9delinsTT Single submitter COG7-congenital disorder of glycosylation
c.2147-10G>A Single submitter COG7-congenital disorder of glycosylation
c.2147-13T>C Single submitter COG7-congenital disorder of glycosylation
c.2147-17C>T Single submitter COG7-congenital disorder of glycosylation
c.2147-9C>T Single submitter COG7-congenital disorder of glycosylation
c.318+20C>A Single submitter COG7-congenital disorder of glycosylation
c.319-119G>T Single submitter
c.319-14C>T Single submitter COG7-congenital disorder of glycosylation
c.319-16C>T Single submitter COG7-congenital disorder of glycosylation
c.319-19C>T Single submitter COG7-congenital disorder of glycosylation
c.435+11T>C Single submitter COG7-congenital disorder of glycosylation
c.435+16A>G Single submitter COG7-congenital disorder of glycosylation
c.435+20G>T Single submitter COG7-congenital disorder of glycosylation
c.436-11G>A Single submitter COG7-congenital disorder of glycosylation
c.436-13T>G Single submitter COG7-congenital disorder of glycosylation
c.436-17A>G Single submitter COG7-congenital disorder of glycosylation
c.436-18T>C Single submitter COG7-congenital disorder of glycosylation
c.436-42G>C Single submitter
c.436-9C>G Single submitter COG7-congenital disorder of glycosylation
c.604+124dup Single submitter
c.604+13T>G Single submitter COG7-congenital disorder of glycosylation
c.604+18C>T Single submitter COG7-congenital disorder of glycosylation
c.604+20C>T Single submitter COG7-congenital disorder of glycosylation
c.605-13G>T Single submitter COG7-congenital disorder of glycosylation
c.605-16A>G Single submitter COG7-congenital disorder of glycosylation
c.605-17C>T Single submitter COG7-congenital disorder of glycosylation
c.605-18A>G Single submitter COG7-congenital disorder of glycosylation
c.687+11G>A Single submitter COG7-congenital disorder of glycosylation
c.687+17G>A Single submitter COG7-congenital disorder of glycosylation
c.687+18A>T Single submitter COG7-congenital disorder of glycosylation
c.688-10G>A Single submitter COG7-congenital disorder of glycosylation
c.688-18T>G Single submitter COG7-congenital disorder of glycosylation
c.688-6C>T Single submitter COG7-congenital disorder of glycosylation
c.810+17G>A Single submitter COG7-congenital disorder of glycosylation
c.810+20del Single submitter COG7-congenital disorder of glycosylation
c.810+7G>T Single submitter
c.810+8C>T Single submitter COG7-congenital disorder of glycosylation
c.811-14C>T Single submitter COG7-congenital disorder of glycosylation
c.811-16C>T Single submitter COG7-congenital disorder of glycosylation
c.811-5T>C Single submitter COG7-congenital disorder of glycosylation
c.811-7A>G Single submitter COG7-congenital disorder of glycosylation
c.*14C>T Single submitter
c.*295dup Single submitter
p.Ala136= Single submitter COG7-congenital disorder of glycosylation
p.Ala188= Single submitter COG7-congenital disorder of glycosylation
p.Ala235Thr Single submitter COG7-congenital disorder of glycosylation
p.Ala256= Single submitter COG7-congenital disorder of glycosylation
p.Ala322= Single submitter COG7-congenital disorder of glycosylation
p.Ala37= Single submitter COG7-congenital disorder of glycosylation
p.Ala405= Single submitter COG7-congenital disorder of glycosylation
p.Ala525= Single submitter COG7-congenital disorder of glycosylation
p.Ala54= Single submitter COG7-congenital disorder of glycosylation
p.Ala541= Single submitter COG7-congenital disorder of glycosylation
p.Ala565= Single submitter
p.Ala570= Single submitter COG7-congenital disorder of glycosylation
p.Ala582= Single submitter COG7-congenital disorder of glycosylation
p.Ala655= Single submitter COG7-congenital disorder of glycosylation
p.Ala696= Single submitter COG7-congenital disorder of glycosylation
p.Arg216= Single submitter COG7-congenital disorder of glycosylation
p.Arg22= Single submitter COG7-congenital disorder of glycosylation
p.Arg444= Single submitter COG7-congenital disorder of glycosylation
p.Arg508= Single submitter COG7-congenital disorder of glycosylation
p.Arg573Gln Single submitter COG7-congenital disorder of glycosylation
p.Asn396= Single submitter COG7-congenital disorder of glycosylation
p.Asn455= Single submitter COG7-congenital disorder of glycosylation
p.Asn640= Single submitter COG7-congenital disorder of glycosylation
p.Asn720= Single submitter COG7-congenital disorder of glycosylation
p.Asp100= Single submitter COG7-congenital disorder of glycosylation
p.Asp112= Single submitter COG7-congenital disorder of glycosylation
p.Asp319= Single submitter COG7-congenital disorder of glycosylation
p.Asp407= Single submitter COG7-congenital disorder of glycosylation
p.Asp461= Single submitter COG7-congenital disorder of glycosylation
p.Asp520= Single submitter COG7-congenital disorder of glycosylation
p.Asp649= Single submitter COG7-congenital disorder of glycosylation
p.Asp9Glu Single submitter Inborn genetic diseases
p.Cys409= Single submitter COG7-congenital disorder of glycosylation
p.Cys419= Single submitter COG7-congenital disorder of glycosylation
p.Cys505= Single submitter COG7-congenital disorder of glycosylation
p.Gln264= Single submitter COG7-congenital disorder of glycosylation
p.Gln580= Single submitter
p.Gln592= Single submitter COG7-congenital disorder of glycosylation
p.Gln61= Single submitter
p.Glu303= Single submitter COG7-congenital disorder of glycosylation
p.Glu380= Single submitter COG7-congenital disorder of glycosylation
p.Glu383= Single submitter COG7-congenital disorder of glycosylation
p.Glu555= Single submitter COG7-congenital disorder of glycosylation
p.Gly156= Single submitter COG7-congenital disorder of glycosylation
p.Gly400= Single submitter COG7-congenital disorder of glycosylation
p.Gly417= Single submitter COG7-congenital disorder of glycosylation
p.Gly420= Single submitter COG7-congenital disorder of glycosylation
p.Gly498= Single submitter COG7-congenital disorder of glycosylation
p.Gly683= Single submitter COG7-congenital disorder of glycosylation
p.His228= Single submitter COG7-congenital disorder of glycosylation
p.His276= Single submitter COG7-congenital disorder of glycosylation
p.His481= Single submitter COG7-congenital disorder of glycosylation
p.Ile214= Single submitter COG7-congenital disorder of glycosylation
p.Ile48= Single submitter COG7-congenital disorder of glycosylation
p.Ile608= Single submitter COG7-congenital disorder of glycosylation
p.Ile630= Single submitter COG7-congenital disorder of glycosylation
p.Ile88= Single submitter COG7-congenital disorder of glycosylation
p.Leu180= Single submitter COG7-congenital disorder of glycosylation
p.Leu282= Single submitter COG7-congenital disorder of glycosylation
p.Leu294= Single submitter COG7-congenital disorder of glycosylation
p.Leu328= Single submitter COG7-congenital disorder of glycosylation
p.Leu333= Single submitter COG7-congenital disorder of glycosylation
p.Leu341= Single submitter COG7-congenital disorder of glycosylation
p.Leu370= Single submitter COG7-congenital disorder of glycosylation
p.Leu40= Single submitter COG7-congenital disorder of glycosylation
p.Leu422= Single submitter COG7-congenital disorder of glycosylation
p.Leu46= Single submitter COG7-congenital disorder of glycosylation
p.Leu494= Single submitter COG7-congenital disorder of glycosylation
p.Leu621= Single submitter COG7-congenital disorder of glycosylation
p.Leu624= Single submitter COG7-congenital disorder of glycosylation
p.Leu63= Single submitter COG7-congenital disorder of glycosylation
p.Leu639= Single submitter COG7-congenital disorder of glycosylation
p.Leu661= Single submitter COG7-congenital disorder of glycosylation
p.Leu671= Single submitter COG7-congenital disorder of glycosylation
p.Leu698= Single submitter COG7-congenital disorder of glycosylation
p.Leu70= Single submitter COG7-congenital disorder of glycosylation
p.Leu703= Single submitter COG7-congenital disorder of glycosylation
p.Leu711= Single submitter COG7-congenital disorder of glycosylation
p.Lys274= Single submitter COG7-congenital disorder of glycosylation
p.Lys356= Single submitter COG7-congenital disorder of glycosylation
p.Lys84= Single submitter COG7-congenital disorder of glycosylation
p.Phe324= Single submitter COG7-congenital disorder of glycosylation
p.Phe465= Single submitter COG7-congenital disorder of glycosylation
p.Phe513= Single submitter COG7-congenital disorder of glycosylation
p.Pro190= Single submitter COG7-congenital disorder of glycosylation
p.Pro334= Single submitter COG7-congenital disorder of glycosylation
p.Pro354= Single submitter COG7-congenital disorder of glycosylation
p.Pro357= Single submitter COG7-congenital disorder of glycosylation
p.Pro638= Single submitter COG7-congenital disorder of glycosylation
p.Pro643= Single submitter COG7-congenital disorder of glycosylation
p.Pro665= Single submitter COG7-congenital disorder of glycosylation
p.Pro672= Single submitter COG7-congenital disorder of glycosylation
p.Ser245= Single submitter COG7-congenital disorder of glycosylation
p.Ser293= Single submitter COG7-congenital disorder of glycosylation
p.Ser30= Single submitter COG7-congenital disorder of glycosylation
p.Ser394= Single submitter COG7-congenital disorder of glycosylation
p.Ser427= Single submitter COG7-congenital disorder of glycosylation
p.Ser506= Single submitter COG7-congenital disorder of glycosylation
p.Ser509= Single submitter COG7-congenital disorder of glycosylation
p.Ser545= Single submitter COG7-congenital disorder of glycosylation
p.Ser558= Single submitter COG7-congenital disorder of glycosylation
p.Ser585= Single submitter COG7-congenital disorder of glycosylation
p.Ser598= Single submitter COG7-congenital disorder of glycosylation
p.Thr133= Single submitter COG7-congenital disorder of glycosylation
p.Thr251= Single submitter COG7-congenital disorder of glycosylation
p.Thr345= Single submitter COG7-congenital disorder of glycosylation
p.Thr39= Single submitter COG7-congenital disorder of glycosylation
p.Thr437= Single submitter COG7-congenital disorder of glycosylation
p.Thr463= Single submitter COG7-congenital disorder of glycosylation
p.Thr474= Single submitter COG7-congenital disorder of glycosylation
p.Thr605= Single submitter COG7-congenital disorder of glycosylation
p.Thr689= Single submitter COG7-congenital disorder of glycosylation
p.Thr764= Single submitter COG7-congenital disorder of glycosylation
p.Tyr225= Single submitter COG7-congenital disorder of glycosylation
p.Tyr318= Single submitter COG7-congenital disorder of glycosylation
p.Tyr747= Single submitter COG7-congenital disorder of glycosylation
p.Val210= Single submitter COG7-congenital disorder of glycosylation
p.Val302= Single submitter COG7-congenital disorder of glycosylation
p.Val351= Single submitter COG7-congenital disorder of glycosylation
p.Val41= Single submitter COG7-congenital disorder of glycosylation
p.Val768= Single submitter COG7-congenital disorder of glycosylation
c.170-12_170-9del No assertion criteria COG7-related disorder
c.605-8T>C No assertion criteria COG7-related disorder

Uncertain significance 236

c.1475+4G>A Multiple submitters COG7-congenital disorder of glycosylation
p.Ala194Val Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Ala20Val Multiple submitters Inborn genetic diseases ⚠
p.Ala222Thr Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Ala29Val Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Ala325Thr Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Ala37Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala570Val Multiple submitters Inborn genetic diseases ⚠
p.Ala658Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala686Thr Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Arg216Trp Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Arg480Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg573Trp Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Arg589Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg731His Multiple submitters Inborn genetic diseases ⚠
p.Arg748Lys Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Arg756Cys Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Arg757Cys Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Arg766Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg766Trp Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Asn527Lys Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Asp129Gly Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Asp146Glu Multiple submitters Inborn genetic diseases
p.Asp202Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp319Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp364Asn Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Cys482Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln241Lys Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Gln273Arg Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Glu277Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu486Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly301Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly609Arg Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.His335Asp Multiple submitters Inborn genetic diseases ⚠
p.Ile147Val Multiple submitters Inborn genetic diseases ⚠
p.Ile265Met Multiple submitters Inborn genetic diseases ⚠
p.Ile549Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile549Val Multiple submitters Inborn genetic diseases ⚠
p.Ile608Val Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Leu250Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu510Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu553Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu612Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys226Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys521Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys526Arg Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Met690Val Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Met765Val Multiple submitters Inborn genetic diseases ⚠
p.Phe317Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe324Leu Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Pro334Ser Multiple submitters COG7-related disorder ⚠
p.Ser598Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser650Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser81Ala Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Thr463Met Multiple submitters Inborn genetic diseases ⚠
p.Thr58Arg Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Thr738Met Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Tyr223Phe Multiple submitters COG7-congenital disorder of glycosylation
p.Tyr500Cys Multiple submitters COG7-congenital disorder of glycosylation ⚠
p.Val175Leu Multiple submitters Inborn genetic diseases ⚠
p.Val395Met Multiple submitters COG7-congenital disorder of glycosylation ⚠
c.1293-5G>A Single submitter COG7-congenital disorder of glycosylation
c.1804-14C>A Single submitter COG7-congenital disorder of glycosylation
c.2003-3C>T Single submitter COG7-congenital disorder of glycosylation
c.2146+4G>C Single submitter COG7-congenital disorder of glycosylation
c.318+5T>C Single submitter COG7-congenital disorder of glycosylation
c.436-12G>A Single submitter COG7-congenital disorder of glycosylation
c.436-4C>T Single submitter COG7-congenital disorder of glycosylation
c.604+3G>A Single submitter COG7-congenital disorder of glycosylation
c.*193G>A Single submitter COG7-congenital disorder of glycosylation
c.*30C>G Single submitter COG7-congenital disorder of glycosylation
p.Ala148Gly Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ala152Val Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ala268Ser Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ala29Pro Single submitter Inborn genetic diseases ⚠
p.Ala322Thr Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ala331Thr Single submitter Inborn genetic diseases ⚠
p.Ala402Val Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ala430Ser Single submitter Inborn genetic diseases ⚠
p.Ala490Pro Single submitter Inborn genetic diseases ⚠
p.Ala511Gly Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ala566Val Single submitter ⚠
p.Ala606Val Single submitter Inborn genetic diseases ⚠
p.Ala678Ser Single submitter COG7-congenital disorder of glycosylation
p.Ala763Ser Single submitter COG7-congenital disorder of glycosylation ⚠
p.Arg216Gln Single submitter COG7-congenital disorder of glycosylation ⚠
p.Arg248Gln Single submitter COG7-congenital disorder of glycosylation ⚠
p.Arg248Trp Single submitter Inborn genetic diseases ⚠
p.Arg492Trp Single submitter COG7-congenital disorder of glycosylation ⚠
p.Arg508Gln Single submitter Inborn genetic diseases ⚠
p.Arg508Trp Single submitter COG7-congenital disorder of glycosylation ⚠
p.Arg568Gln Single submitter COG7-congenital disorder of glycosylation ⚠
p.Arg568Pro Single submitter COG7-congenital disorder of glycosylation ⚠
p.Arg71Cys Single submitter COG7-congenital disorder of glycosylation
p.Arg71Gly Single submitter Inborn genetic diseases ⚠
p.Arg71His Single submitter COG7-congenital disorder of glycosylation ⚠
p.Arg756His Single submitter COG7-congenital disorder of glycosylation ⚠
p.Arg757His Single submitter COG7-congenital disorder of glycosylation ⚠
p.Arg757Leu Single submitter COG7-congenital disorder of glycosylation
p.Asn18Asp Single submitter Inborn genetic diseases ⚠
p.Asn369Ser Single submitter Inborn genetic diseases ⚠
p.Asn414Ser Single submitter COG7-congenital disorder of glycosylation ⚠
p.Asn455Lys Single submitter Inborn genetic diseases ⚠
p.Asn455Ser Single submitter Inborn genetic diseases ⚠
p.Asn467Lys Single submitter COG7-congenital disorder of glycosylation ⚠
p.Asn491Ile Single submitter COG7-congenital disorder of glycosylation ⚠
p.Asp137Asn Single submitter COG7-congenital disorder of glycosylation ⚠
p.Asp353Gly Single submitter COG7-congenital disorder of glycosylation ⚠
p.Asp584Asn Single submitter Inborn genetic diseases ⚠
p.Asp601= Single submitter COG7-congenital disorder of glycosylation
p.Asp649Gly Single submitter COG7-congenital disorder of glycosylation
p.Asp716Asn Single submitter COG7-congenital disorder of glycosylation ⚠
p.Gln119His Single submitter Inborn genetic diseases ⚠
p.Gln237Glu Single submitter Inborn genetic diseases ⚠
p.Gln266Lys Single submitter Inborn genetic diseases ⚠
p.Gln667Arg Single submitter COG7-congenital disorder of glycosylation ⚠
p.Gln699His Single submitter Inborn genetic diseases ⚠
p.Glu27Gly Single submitter COG7-congenital disorder of glycosylation ⚠
p.Glu303Gly Single submitter Inborn genetic diseases ⚠
p.Glu308Lys Single submitter COG7-congenital disorder of glycosylation ⚠
p.Glu477Lys Single submitter COG7-congenital disorder of glycosylation ⚠
p.Glu555Gly Single submitter Inborn genetic diseases ⚠
p.Glu56Gly Single submitter COG7-congenital disorder of glycosylation ⚠
p.Glu625Gln Single submitter COG7-congenital disorder of glycosylation ⚠
p.Glu625Lys Single submitter COG7-congenital disorder of glycosylation ⚠
p.Glu670Gly Single submitter Inborn genetic diseases ⚠
p.Glu702Asp Single submitter COG7-congenital disorder of glycosylation ⚠
p.Gly252Arg Single submitter COG7-congenital disorder of glycosylation ⚠
p.Gly288Glu Single submitter Inborn genetic diseases ⚠
p.Gly327Ser Single submitter COG7-congenital disorder of glycosylation ⚠
p.Gly420Ala Single submitter COG7-congenital disorder of glycosylation ⚠
p.Gly420Val Single submitter COG7-congenital disorder of glycosylation ⚠
p.Gly476Arg Single submitter COG7-congenital disorder of glycosylation ⚠
p.Gly483Glu Single submitter COG7-congenital disorder of glycosylation ⚠
p.Gly607Ala Single submitter COG7-congenital disorder of glycosylation ⚠
p.Gly609Glu Single submitter COG7-congenital disorder of glycosylation ⚠
p.Gly753Val Single submitter Inborn genetic diseases ⚠
p.His335Tyr Single submitter Inborn genetic diseases ⚠
p.His337Tyr Single submitter COG7-congenital disorder of glycosylation ⚠
p.His393Tyr Single submitter COG7-congenital disorder of glycosylation ⚠
p.His53Gln Single submitter ⚠
p.His561Gln Single submitter COG7-congenital disorder of glycosylation ⚠
p.His657Arg Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ile138Val Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ile147Leu Single submitter Inborn genetic diseases ⚠
p.Ile17Met Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ile517Met Single submitter Inborn genetic diseases ⚠
p.Ile627Val Single submitter Inborn genetic diseases ⚠
p.Ile700Thr Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ile94Met Single submitter COG7-congenital disorder of glycosylation ⚠
p.Leu125fs Single submitter
p.Leu125Val Single submitter COG7-congenital disorder of glycosylation ⚠
p.Leu253His Single submitter COG7-congenital disorder of glycosylation ⚠
p.Leu282Pro Single submitter COG7-congenital disorder of glycosylation ⚠
p.Leu290Phe Single submitter Inborn genetic diseases
p.Leu332Arg Single submitter COG7-congenital disorder of glycosylation ⚠
p.Leu332Pro Single submitter Inborn genetic diseases ⚠
p.Leu332Val Single submitter COG7-congenital disorder of glycosylation ⚠
p.Leu379Val Single submitter ⚠
p.Leu391Val Single submitter Inborn genetic diseases ⚠
p.Leu421Val Single submitter COG7-congenital disorder of glycosylation ⚠
p.Leu428Pro Single submitter COG7-congenital disorder of glycosylation ⚠
p.Leu440Pro Single submitter Inborn genetic diseases ⚠
p.Leu449Pro Single submitter Inborn genetic diseases
p.Leu494Phe Single submitter COG7-congenital disorder of glycosylation ⚠
p.Leu501Ile Single submitter ⚠
p.Leu510Met Single submitter COG7-congenital disorder of glycosylation ⚠
p.Leu564Arg Single submitter COG7-congenital disorder of glycosylation ⚠
p.Leu718Pro Single submitter COG7-congenital disorder of glycosylation ⚠
p.Leu739= Single submitter COG7-congenital disorder of glycosylation
p.Lys115Arg Single submitter Inborn genetic diseases ⚠
p.Lys153Met Single submitter Inborn genetic diseases ⚠
p.Lys205Thr Single submitter COG7-congenital disorder of glycosylation ⚠
p.Lys209Arg Single submitter ⚠
p.Lys356Arg Single submitter Inborn genetic diseases ⚠
p.Lys431Asn Single submitter COG7-congenital disorder of glycosylation ⚠
p.Lys445Asn Single submitter Inborn genetic diseases ⚠
p.Lys5Thr Single submitter Inborn genetic diseases ⚠
p.Lys660Glu Single submitter COG7-congenital disorder of glycosylation ⚠
p.Lys709Asn Single submitter Inborn genetic diseases ⚠
p.Lys77Glu Single submitter COG7-congenital disorder of glycosylation ⚠
p.Met105Leu Single submitter Inborn genetic diseases ⚠
p.Met280Val Single submitter COG7-congenital disorder of glycosylation ⚠
p.Met365Val Single submitter COG7-congenital disorder of glycosylation ⚠
p.Met547Lys Single submitter COG7-congenital disorder of glycosylation ⚠
p.Met547Val Single submitter Inborn genetic diseases ⚠
p.Phe412Leu Single submitter Inborn genetic diseases ⚠
p.Phe436Cys Single submitter COG7-congenital disorder of glycosylation ⚠
p.Pro168Arg Single submitter COG7-congenital disorder of glycosylation
p.Pro357Thr Single submitter Inborn genetic diseases ⚠
p.Pro453Ala Single submitter Inborn genetic diseases ⚠
p.Pro528Ser Single submitter Inborn genetic diseases ⚠
p.Pro567Ser Single submitter COG7-congenital disorder of glycosylation ⚠
p.Pro672Ser Single submitter COG7-congenital disorder of glycosylation ⚠
p.Pro729Ser Single submitter COG7-congenital disorder of glycosylation ⚠
p.Pro744= Single submitter COG7-congenital disorder of glycosylation
p.Ser124Tyr Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ser245Phe Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ser25Phe Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ser495Pro Single submitter Inborn genetic diseases ⚠
p.Ser504Cys Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ser59Arg Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ser650Cys Single submitter COG7-congenital disorder of glycosylation ⚠
p.Thr141Ile Single submitter COG7-congenital disorder of glycosylation ⚠
p.Thr321Ala Single submitter Inborn genetic diseases ⚠
p.Thr437Ala Single submitter Inborn genetic diseases ⚠
p.Thr552Asn Single submitter Inborn genetic diseases ⚠
p.Thr622Asn Single submitter Inborn genetic diseases ⚠
p.Thr732Ile Single submitter COG7-congenital disorder of glycosylation ⚠
p.Thr760Ile Single submitter Inborn genetic diseases ⚠
p.Thr761Ala Single submitter COG7-congenital disorder of glycosylation ⚠
p.Thr761Ile Single submitter Inborn genetic diseases ⚠
p.Thr764Ala Single submitter COG7-congenital disorder of glycosylation ⚠
p.Thr764Ile Single submitter COG7-congenital disorder of glycosylation ⚠
p.Tyr223Cys Single submitter COG7-congenital disorder of glycosylation
p.Tyr355Phe Single submitter COG7-congenital disorder of glycosylation ⚠
p.Tyr358Cys Single submitter Inborn genetic diseases ⚠
p.Tyr532His Single submitter Inborn genetic diseases ⚠
p.Val107Met Single submitter COG7-congenital disorder of glycosylation ⚠
p.Val114Leu Single submitter Inborn genetic diseases ⚠
p.Val13Glu Single submitter Inborn genetic diseases ⚠
p.Val175Ala Single submitter Inborn genetic diseases ⚠
p.Val193Ile Single submitter COG7-congenital disorder of glycosylation ⚠
p.Val201Leu Single submitter COG7-congenital disorder of glycosylation ⚠
p.Val210Met Single submitter COG7-congenital disorder of glycosylation ⚠
p.Val302Leu Single submitter COG7-congenital disorder of glycosylation ⚠
p.Val377Met Single submitter Inborn genetic diseases ⚠
p.Val384Leu Single submitter COG7-congenital disorder of glycosylation ⚠
p.Val388Met Single submitter Inborn genetic diseases
p.Val410Ile Single submitter COG7-congenital disorder of glycosylation ⚠
p.Val721Met Single submitter COG7-congenital disorder of glycosylation ⚠
p.Val737Met Single submitter COG7-congenital disorder of glycosylation ⚠
p.Val762Met Single submitter ⚠
p.Val768Leu Single submitter ⚠
p.Val768Met Single submitter COG7-congenital disorder of glycosylation ⚠
p.Ter771Cys No assertion criteria