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Items: 1 to 100 of 261

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GMPPB
(C113Y)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
(E61D)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
(G205E)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
(D114Y)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
(C285fs)
Microsatellite
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GPathogenic
GMPPB
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GLikely benign
GMPPB
(M64R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GUncertain significance
GMPPB, LOC129936764
(E82K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
(W317*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GPathogenic
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
(K195R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
(F104L)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
(G269C)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
(K23R)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
(Q238H)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+3 more
GUncertain significance
GMPPB
(H36Y)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
(A339V)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
(V325fs +1 more)
Duplication
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GPathogenic
GMPPB
(S168Y)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
(N169S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
(M175T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
(R158W)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GUncertain significance
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GLikely benign
GMPPB
(P22L)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GLikely pathogenic
GMPPB
(Y340H)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
(W317C)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB, LOC129936764
(S76fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GPathogenic
GMPPB
(H373Y +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
(V278M)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
(L343fs)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
(C312S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GUncertain significance
GMPPB, LOC129936764
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
(S352* +1 more)
Duplication
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GPathogenic
GMPPB
(E63A)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
(E196del)
Microsatellite
(inframe_deletion)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
(R288W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GMPPB
(V370M +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
(E99G)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GUncertain significance
GMPPB
(S57F)
Indel
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GUncertain significance
GMPPB
(A91T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GUncertain significance
GMPPB
(W310L)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GUncertain significance
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Duplication
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB, LOC129936764
Duplication
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GBenign
GMPPB
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+3 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB, LOC129936764
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB, LOC129936764
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+3 more
GLikely benign
GMPPB
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB, LOC129936764
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely benign
GMPPB
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GUncertain significance
GMPPB
(I262M)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GUncertain significance
GMPPB
(T191M)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GUncertain significance
GMPPB
(L188P)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GUncertain significance
GMPPB
(I5M)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GUncertain significance
GMPPB
(S348* +1 more)
Duplication
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GPathogenic
GMPPB
(P24L)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GUncertain significance
GMPPB
(V323L +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GUncertain significance
GMPPB
(K31E)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GLikely pathogenic
GMPPB
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GUncertain significance
GMPPB
(I193T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2T
+2 more
GUncertain significance
GMPPB
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
+2 more
GUncertain significance
GMPPB
(V308G)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
+2 more
GUncertain significance
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