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Links from MedGen

Items: 1 to 100 of 908

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(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)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
(Y437*)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GPathogenic
POMT2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
(L128fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GPathogenic
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
LOC130056176, POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
(L656fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GPathogenic
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
(S674fs)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GPathogenic
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
(I411F)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GUncertain significance
POMT2
(F667L)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GUncertain significance
POMT2
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+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
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+2 more
GLikely benign
POMT2
(V373L)
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
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
(N98H)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GUncertain significance
POMT2
(W47fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GPathogenic
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
(V275fs)
Microsatellite
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GPathogenic
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
(Q499*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GPathogenic
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+2 more
GLikely benign
POMT2
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
+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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