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Items: 1 to 100 of 411

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B3GALNT2
Deletion
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GPathogenic
B3GALNT2, TBCE
Deletion
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GPathogenic
B3GALNT2
(A101P +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(G14R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(G322V)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely pathogenic
B3GALNT2
(G415E)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(Y436C)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(Q127P +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2, TBCE
(M470K)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(R192L +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2, TBCE
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(R102C +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(Y317fs)
Duplication
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GPathogenic
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2, TBCE
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(L260* +1 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely pathogenic
B3GALNT2
(L130P +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(S113N +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(L13F)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(V234A +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(V325A)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(I135V +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(N103S +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(A308T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2, TBCE
Duplication
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Deletion
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GPathogenic
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(L363R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
+1 more
GUncertain significance
B3GALNT2
(H303P +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2, TBCE
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(S200N +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(V344M)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(P408R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(F367V)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(S404T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
B3GALNT2
(D319del)
Microsatellite
(inframe_deletion)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(H138R +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(A29D)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2, TBCE
(R490Q)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(N119H +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(W446*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GPathogenic
B3GALNT2
(P181L +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(A406V)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(D357H)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(P154L +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(R251T +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(N244D +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(L303V)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2, TBCE
(K488fs)
Indel
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(P123R +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(E168K +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(R87C +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(Q456K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(E104K +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(C11W)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(W342C)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(R61H +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(C153Y +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(R112del +1 more)
Microsatellite
(inframe_deletion)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
(K396R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2, TBCE
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Deletion
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2, TBCE
(R496G)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(K420fs)
Duplication
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GPathogenic
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(Y248C +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GLikely benign
B3GALNT2
(A29S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
B3GALNT2
Deletion
(inframe_deletion)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
GUncertain significance
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