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Links from MedGen

Items: 1 to 100 of 194

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GM2A
Single nucleotide variant
(synonymous variant +1 more)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(synonymous variant +1 more)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(synonymous variant +1 more)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
(A187T)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(synonymous variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
(S175N)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(M69I)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely pathogenic
GM2A
Single nucleotide variant
(synonymous variant)
Tay-Sachs disease, variant AB
+1 more
GLikely benign
GM2A
(G122R)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GLikely pathogenic
GM2A
Duplication
Tay-Sachs disease, variant AB
GUncertain significance
GM2A, SLC36A2
+1 more
Duplication
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(M69A)
Indel
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Duplication
(intron variant)
Tay-Sachs disease, variant AB
GBenign
GM2A
(I193M)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(G192S)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(Y132F)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
+1 more
GUncertain significance
GM2A
(Q2R)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(synonymous variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
(R169C)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(P61R)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(synonymous variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(synonymous variant +1 more)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(synonymous variant +1 more)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
(S33N)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
(S150N)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(E171V)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(G62R)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(D156V)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(I58F)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(synonymous variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(R180P)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(K149Q)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(synonymous variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
(M69V)
Inversion
(missense variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
(E171Q)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(synonymous variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
(A46E)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(M5L)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(R180C)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(G143E)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(V68A)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Deletion
(intron variant)
Tay-Sachs disease, variant AB
GBenign
GM2A
(R169S)
Single nucleotide variant
(intron variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(G70fs)
Deletion
(frameshift variant)
Tay-Sachs disease, variant AB
GPathogenic
GM2A
Single nucleotide variant
(synonymous variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(synonymous variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(synonymous variant)
Tay-Sachs disease, variant AB
+1 more
GLikely benign
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(synonymous variant +1 more)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(synonymous variant +1 more)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
(V47M)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(V60L)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(V60I)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(V82L)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(G166R)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(S29P)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(R180S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GM2A
(R130C)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(M69I)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(R169H)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
+1 more
GUncertain significance
GM2A
(L93R)
Indel
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(Q2*)
Single nucleotide variant
(nonsense)
Tay-Sachs disease, variant AB
GLikely pathogenic
GM2A
(E123fs)
Deletion
(frameshift variant)
Tay-Sachs disease, variant AB
+1 more
GConflicting classifications of pathogenicity
GM2A
Single nucleotide variant
(intron variant +1 more)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
(L93F)
Indel
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(G192V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(I103T)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(K88del)
Deletion
(inframe_deletion)
Tay-Sachs disease, variant AB
GLikely pathogenic
GM2A
Single nucleotide variant
(3 prime UTR variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(3 prime UTR variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(3 prime UTR variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(3 prime UTR variant)
Tay-Sachs disease, variant AB
GLikely benign
GM2A
Single nucleotide variant
(3 prime UTR variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(3 prime UTR variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(P155T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(A188G)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
(R180H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GM2A
(V173I)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(3 prime UTR variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(3 prime UTR variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(3 prime UTR variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(3 prime UTR variant)
Tay-Sachs disease, variant AB
GBenign
GM2A
Single nucleotide variant
(3 prime UTR variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(3 prime UTR variant)
Tay-Sachs disease, variant AB
GLikely benign
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