Sugi Variant

Sugi Variant/B3GALNT2

B3GALNT2 — 536 ClinVar variants

All ClinVar germline B3GALNT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 198 flagged for review →

33 Pathogenic · 6 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 10 Conflicting · 35 Benign · 4 Benign/Likely benign · 192 Likely benign · 235 Uncertain significance

Full B3GALNT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 198

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 4

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

Predictors lean, ClinVar uncertain 163

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 163

Predictors split 31

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

All B3GALNT2 variants

Pathogenic 33

  • c.1368+1G>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ala259fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg150Ter Multiple submitters muscular dystrophy-dystroglycanopathy
  • p.Arg393Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.261-2A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.652-1G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.763-1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg341fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg67Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asn302fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asp357Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Cys9Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gln45Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Glu127Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Glu439Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Glu65Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu17fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Lys420fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Pro408fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser130fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser25fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser85fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Thr347fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Thr355_Asp356insTer Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Trp20Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Trp381Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Trp460fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Trp74Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Tyr317fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Tyr329fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Val234fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Val252fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Val103fs No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

Pathogenic/Likely pathogenic 6

  • p.Arg143Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asp327Asn Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ile276fs Multiple submitters B3GALNT2-related disorders
  • p.Trp425fs Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg292Pro No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val252Gly No assertion criteria muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠

Likely pathogenic 21

  • c.113-1G>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1311+1G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1311+1G>C Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.762+1G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.842-1G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Pro474del Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1151+2T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1152-1G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.261-1G>A Single submitter
  • c.362-1G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.652-2A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.841+1G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.842-1G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asp362fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gln228Ter Single submitter B3GALNT2-related disorders
  • p.Gly248Ala Single submitter
  • p.Leu260Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu336Ser Single submitter B3GALNT2-related disorders
  • p.Trp425Ter Single submitter
  • p.Trp446Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser32fs No assertion criteria Dystroglycanopathy

Conflicting classifications of pathogenicity 10

  • c.1368+1G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg192His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Arg496Gln Single submitter Inborn genetic diseases ⚠
  • p.Asn288Ser Single submitter Inborn genetic diseases ⚠
  • p.Gln475Ter Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Glu281= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gly247Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Leu363Arg Single submitter B3GALNT2-related disorders ⚠
  • p.Met1Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Val57Met Single submitter Inborn genetic diseases ⚠

Benign 35

Benign/Likely benign 4

  • c.762+9dup Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg454Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Glu133Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ile155= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

Likely benign 192

  • c.112+10T>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1152-19A>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1369-106A>G Multiple submitters
  • c.361+13T>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.362-12C>T Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg490= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asn123= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asn368= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asp134= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gln372= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gln86= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Glu211= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ile93= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Phe92= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Pro209= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Pro405= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser130= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser137= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser430= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Thr355= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Thr83= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Val241= Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1025+13A>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1025+14A>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1025+15T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1025+16G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1025+17_1025+19del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1026-13T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1026-15C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1026-18T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1026-33G>A Single submitter
  • c.1026-5A>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1026-8G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.112+14G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.112+18G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.112+9C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.113-115G>A Single submitter
  • c.113-1376C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.113-14_113-12del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.113-1439dup Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.113-1485_113-1484dup Single submitter
  • c.113-1499A>T Single submitter
  • c.113-14G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.113-14G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.113-19G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.113-315G>T Single submitter
  • c.113-7T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1151+14T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1152-15T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1152-17A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1152-18C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1311+15C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1311+4_1311+5del Single submitter
  • c.1311+9_1311+11del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1312-213G>A Single submitter
  • c.1312-8A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1368+13G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1368+242G>A Single submitter
  • c.1369-12G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1369-173dup Single submitter
  • c.1369-6C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.260+11T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.260+14G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.260+18T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.260+75T>G Single submitter
  • c.261-11A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.261-162T>A Single submitter
  • c.261-17G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.261-7C>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.361+126G>T Single submitter
  • c.361+20G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.361+49A>G Single submitter
  • c.362-10C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.362-12C>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.362-20A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.362-9A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.555+12T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.556-214G>A Single submitter
  • c.556-280dup Single submitter
  • c.651+134T>A Single submitter
  • c.651+5A>C Single submitter
  • c.652-12T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.652-18T>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.762+11T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.762+12T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.762+326C>T Single submitter
  • c.762+7C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.762+8del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.762+8G>A Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.762+8G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.762+9T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.763-10T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.763-295A>G Single submitter
  • c.841+286G>A Single submitter
  • c.842-4A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.-170G>C Single submitter
  • c.-20G>C Single submitter
  • c.-30G>A Single submitter
  • c.*197A>C Single submitter
  • c.*92G>A Single submitter
  • p.Ala128= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ala166= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ala34= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ala365= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ala411= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ala60= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg173= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg2= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg24= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg301= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg454= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg76= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asn338= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asn350= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asn68= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asp457= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Cys491= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gln212= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gln475= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Glu186= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Glu269= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Glu312= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Glu364= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Glu399= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Glu489= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gly232= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gly248= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gly33= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gly377= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gly415= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gly431= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gly56= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gly98= Single submitter
  • p.His231= Single submitter
  • p.His287= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.His299= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.His50= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.His64= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ile223= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ile297Thr Single submitter Inborn genetic diseases
  • p.Ile320= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ile422= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu131= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu17= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu179= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu188= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu19= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu21= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu23= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu230= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu233= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu337= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu351= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu352= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu353= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu459= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu461= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu481= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Lys113= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Lys178Arg Single submitter Inborn genetic diseases
  • p.Lys396= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Lys486= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Phe193= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Pro10= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Pro196= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Pro27= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Pro28= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Pro403= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Pro478= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser132= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser146= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser148= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser218= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser25= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser419= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser59= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser72= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ter501= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Thr346= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Thr347= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Thr394= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Thr482= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Thr73= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Tyr164= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Tyr317= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Tyr436= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Val202= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Val252= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Val326= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Val344= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Val423= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu363= No assertion criteria B3GALNT2-related disorder

Uncertain significance 235

  • c.362-5C>G Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.555+5G>A Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ala15Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ala308Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala406Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Arg192Cys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Arg22Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg236Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg292Cys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg330His Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Arg393Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg496Ter Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg61Cys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Arg67Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg87Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asn119Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Asn167Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asn338Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asn429Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn62Ser Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asp134His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp165Asn Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asp357Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Cys11Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Cys359Tyr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Cys412Gly Multiple submitters ⚠
  • p.Gln456Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln86Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Glu127Lys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Glu364Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly14Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Gly232Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly246Glu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Gly33Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly35Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly492Ser Multiple submitters Inborn genetic diseases ⚠
  • p.His262Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ile155Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ile214Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile276Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ile320Thr Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu289Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu296Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu8Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Leu8Val Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Phe264Ile Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Pro102Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Pro10Arg Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Pro403Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Pro405Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro478Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser137Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ser25Pro Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ser32del Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ser404Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser442Cys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ser458Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr222Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr73Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr153Cys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Tyr153Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr340Cys Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val145Ala Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val147Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val147Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val156Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val210Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val224Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val234Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val243Leu Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val268Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val69Met Multiple submitters muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • c.1025+4G>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.113-1364_113-1363insGC Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1312-16T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1368+3A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.1369-4A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.555+5G>T Single submitter
  • c.555+6C>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.556-8A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.651+3A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.651+5A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.652-4A>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.763-6T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.842-3T>C Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.842-3T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.842-6T>G Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • c.-2C>T Single submitter
  • p.Ala128Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ala16Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ala255Val Single submitter ⚠
  • p.Ala272Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Ala29Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ala29Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ala31Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ala31Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ala406Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ala427Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ala60Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Arg143Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Arg192Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg24Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg251Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Arg292His Single submitter ⚠
  • p.Arg393Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg490Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Arg490Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Arg496Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Arg61His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Arg71del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Arg87Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asn116Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asn119His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asn203Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asn244Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asn302Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asn350His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asn62Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asp108Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asp245Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp245Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asp245Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asp245Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asp298Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asp307Tyr Single submitter Inborn genetic diseases
  • p.Asp318Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asp319del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asp324Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp357His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asp392Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp440Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Asp493fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Asp52Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Cys112Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Cys11Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Cys466Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Gln172His Single submitter Inborn genetic diseases ⚠
  • p.Gln201Glu Single submitter ⚠
  • p.Gln201Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Gln280Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Gln294= Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gln45Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Gln86His Single submitter Inborn genetic diseases ⚠
  • p.Glu104Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Glu220Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Glu345Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Gly14_Leu19del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gly14Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Gly282Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Gly35Asp Single submitter ⚠
  • p.Gly35Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Gly415Glu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Gly469Ala Single submitter ⚠
  • p.His231Tyr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.His299Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.His299Asp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.His299Leu Single submitter Inborn genetic diseases ⚠
  • p.His97Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ile157Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ile223Val Single submitter Inborn genetic diseases ⚠
  • p.Ile276Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile279Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ile320Val Single submitter Inborn genetic diseases ⚠
  • p.Ile361Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ile361Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ile370Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ile94Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Leu13Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Leu160Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu160Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Leu205Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu215Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu21Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Leu230Phe Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Leu250Ile Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Leu303Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Leu351Trp Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Leu353Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Leu66Phe Single submitter ⚠
  • p.Leu7Arg Single submitter
  • p.Leu89Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Lys396Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Lys464del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Lys488Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Lys488fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Met443Ile Single submitter ⚠
  • p.Met470Lys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Met75Ile Single submitter ⚠
  • p.Phe367Val Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Pro10Gln Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Pro140Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Pro154Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Pro154Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Pro154Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Pro36Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Pro403Ser Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Pro408Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Pro82Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ser146Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ser159Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ser159Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ser227Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser419Thr Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ser430Leu Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ser458Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ser72Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Ser85Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Thr135Ile Single submitter ⚠
  • p.Thr278Ile Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Thr347del Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Thr347Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Thr347Pro Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Thr435Asn Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Thr435delinsIleProAspArg Single submitter
  • p.Thr465Ile Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Thr482Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Trp342Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Trp382Cys Single submitter Inborn genetic diseases ⚠
  • p.Trp460Leu Single submitter Inborn genetic diseases ⚠
  • p.Trp485fs Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • p.Trp4Arg Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Trp74Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Tyr180His Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Tyr207Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Tyr277Cys Single submitter Inborn genetic diseases
  • p.Tyr436Cys Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val210Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val234Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val325Ala Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val344Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val69Gly Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val6Leu Single submitter Inborn genetic diseases ⚠
  • p.Val6Met Single submitter muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ⚠
  • p.Val90Leu Single submitter Inborn genetic diseases ⚠
  • p.Asp356Gly No assertion criteria B3GALNT2-related disorder ⚠