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Links from Gene

Items: 1 to 100 of 1000

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMT2
(C186Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POMT2
(L151F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
GLikely pathogenic
POMT2
(G353C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POMT2
(T295K)
Single nucleotide variant
(missense variant)
POMT2-related disorder
GUncertain significance
POMT2
(N561S)
Single nucleotide variant
(missense variant)
POMT2-related disorder
GUncertain significance
POMT2
Single nucleotide variant
(synonymous variant)
POMT2-related disorder
GLikely benign
POMT2
(R50Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POMT2
(V211D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMT2
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
POMT2
(S425N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHSA1, ANGEL1
+20 more
Duplication
not provided
GUncertain significance
POMT2
Deletion
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely pathogenic
POMT2
Deletion
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GPathogenic
POMT2
Deletion
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GPathogenic
POMT2
(P653fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
GLikely pathogenic
POMT2
(R27fs)
Duplication
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
GLikely pathogenic
POMT2
Indel
(splice donor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
GLikely pathogenic
POMT2
(R17fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
GLikely pathogenic
POMT2
(G146*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
GLikely pathogenic
POMT2
(L607fs)
Duplication
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
GLikely pathogenic
POMT2
(C83S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
GUncertain significance
POMT2
(N214S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POMT2
(G122R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POMT2
(I82V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
POMT2
Single nucleotide variant
(synonymous variant)
POMT2-related disorder
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POMT2
(F147fs)
Duplication
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GPathogenic/Likely pathogenic
POMT2
Deletion
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
(Y437*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GPathogenic
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
(L128fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GPathogenic
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
LOC130056176, POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
(L656fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GPathogenic
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
(S674fs)
Duplication
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GPathogenic
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
(I411F)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GUncertain significance
POMT2
(F667L)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GUncertain significance
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
LOC130056177, POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
(R473fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GPathogenic
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
(Q370K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GUncertain significance
POMT2
(S472fs)
Microsatellite
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GPathogenic
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
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