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Items: 1 to 100 of 160

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMT1
Single nucleotide variant
(synonymous variant +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+3 more
GConflicting classifications of pathogenicity
POMT1
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+3 more
GConflicting classifications of pathogenicity
POMT1
Single nucleotide variant
(synonymous variant +3 more)
POMT1-related condition
+5 more
GConflicting classifications of pathogenicity
POMT1
Single nucleotide variant
(synonymous variant +3 more)
not specified
+1 more
GConflicting classifications of pathogenicity
POMT1
Single nucleotide variant
(synonymous variant +3 more)
Walker-Warburg congenital muscular dystrophy
+4 more
GBenign/Likely benign
POMT1
Single nucleotide variant
(5 prime UTR variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+3 more
GUncertain significance
POMT1
Duplication
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+4 more
GBenign/Likely benign
POMT1
Duplication
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+6 more
GBenign/Likely benign
POMT1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
POMT1
Single nucleotide variant
(5 prime UTR variant +3 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+4 more
GConflicting classifications of pathogenicity
POMT1
(E44D)
Single nucleotide variant
(missense variant +3 more)
POMT1-related condition
+6 more
GConflicting classifications of pathogenicity
POMT1
Single nucleotide variant
(synonymous variant +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+3 more
GConflicting classifications of pathogenicity
POMT1
(I51F)
Single nucleotide variant
(missense variant +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+4 more
GUncertain significance
POMT1
(L61M +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
POMT1
(P66L +1 more)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+5 more
GConflicting classifications of pathogenicity
POMT1
(P66R +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
POMT1
(F68L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
POMT1
(H70N +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
POMT1
(V72L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
POMT1
(R47*)
Single nucleotide variant
(synonymous variant +4 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+3 more
GConflicting classifications of pathogenicity
POMT1
(D83N +2 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+3 more
GUncertain significance
POMT1
Single nucleotide variant
(non-coding transcript variant +3 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+3 more
GConflicting classifications of pathogenicity
POMT1
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+3 more
GConflicting classifications of pathogenicity
POMT1
Single nucleotide variant
(synonymous variant +3 more)
not specified
+4 more
GConflicting classifications of pathogenicity
POMT1
(M134T +3 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+3 more
GUncertain significance
POMT1
(I142F +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
POMT1
(I142T +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
POMT1
(R151T +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
POMT1
(N163S +4 more)
Single nucleotide variant
(missense variant +1 more)
Walker-Warburg congenital muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
POMT1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
POMT1
(A196T +4 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+5 more
GConflicting classifications of pathogenicity
POMT1
(S198T +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
POMT1
(A200P +4 more)
Single nucleotide variant
(missense variant +1 more)
Walker-Warburg congenital muscular dystrophy
+6 more
GPathogenic/Likely pathogenic
POMT1
(A200G +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POMT1
(G207C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POMT1
(G207D +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
POMT1
(T210M +4 more)
Single nucleotide variant
(missense variant +1 more)
Walker-Warburg congenital muscular dystrophy
+3 more
GUncertain significance
POMT1
(V212M +4 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+3 more
GUncertain significance
POMT1
(V214A +4 more)
Single nucleotide variant
(missense variant +1 more)
Walker-Warburg congenital muscular dystrophy
+3 more
GUncertain significance
POMT1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
POMT1
(H224Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POMT1
(N233S +4 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+3 more
GUncertain significance
POMT1
(V234I +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
POMT1
(C240R +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
POMT1
(Q197* +3 more)
Single nucleotide variant
(nonsense +2 more)
not specified
+4 more
GBenign/Likely benign
POMT1
(R251Q)
Single nucleotide variant
(no sequence alteration +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+4 more
GBenign
POMT1
(V202I)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GPathogenic/Likely pathogenic
POMT1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
POMT1
(A264T +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GUncertain significance
POMT1
(A264V +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
POMT1
(R265* +9 more)
Single nucleotide variant
(nonsense +2 more)
Myopathy caused by variation in POMT1
+5 more
GPathogenic
POMT1
(P273L +8 more)
Single nucleotide variant
(missense variant +2 more)
POMT1-related condition
+5 more
GConflicting classifications of pathogenicity
POMT1
(V275I +9 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+3 more
GUncertain significance
POMT1
(L285F +9 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+5 more
GUncertain significance
POMT1
(R290H +8 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GUncertain significance
POMT1
(Q277*)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
POMT1
(S305R +9 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+4 more
GUncertain significance
POMT1
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+5 more
GConflicting classifications of pathogenicity
POMT1
(R312W +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
POMT1
(T314S +9 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+5 more
GUncertain significance
POMT1
(S287P)
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
+4 more
GBenign
POMT1
(G292R)
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+4 more
GBenign/Likely benign
POMT1
(V327I +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GBenign/Likely benign
POMT1
(E302*)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
POMT1
(V332I +9 more)
Single nucleotide variant
(missense variant +1 more)
Walker-Warburg congenital muscular dystrophy
+3 more
GUncertain significance
POMT1
(K335E +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POMT1
(D346N +9 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
POMT1
(Y348C +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
POMT1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+4 more
GConflicting classifications of pathogenicity
POMT1
(Y352* +9 more)
Single nucleotide variant
(nonsense +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+4 more
GPathogenic/Likely pathogenic
POMT1
Single nucleotide variant
(synonymous variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+3 more
GConflicting classifications of pathogenicity
POMT1
(Q361* +9 more)
Single nucleotide variant
(nonsense +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+1 more
GPathogenic
POMT1
Single nucleotide variant
(synonymous variant +2 more)
Walker-Warburg congenital muscular dystrophy
+4 more
GBenign
POMT1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+4 more
GBenign
POMT1
Microsatellite
(intron variant)
not provided
+3 more
GUncertain significance
POMT1
(Q385* +9 more)
Single nucleotide variant
(nonsense +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+5 more
GPathogenic
POMT1
(V387A +9 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
POMT1
(V395L +9 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+4 more
GUncertain significance
POMT1
(G398R +9 more)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+4 more
GConflicting classifications of pathogenicity
POMT1
(D399N +9 more)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+3 more
GUncertain significance
POMT1
Single nucleotide variant
(synonymous variant +2 more)
POMT1-related condition
+5 more
GConflicting classifications of pathogenicity
POMT1
(G406S +9 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+5 more
GUncertain significance
POMT1
(R410C +9 more)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
+3 more
GUncertain significance
POMT1
(R410H +9 more)
Single nucleotide variant
(intron variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+4 more
GUncertain significance
POMT1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
POMT1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
POMT1
(L282fs +9 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+4 more
GPathogenic
POMT1
(S422T +9 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+1 more
GUncertain significance
POMT1
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+3 more
GConflicting classifications of pathogenicity
POMT1
(E288V +9 more)
Indel
(missense variant +1 more)
not provided
GLikely pathogenic
POMT1
(D433E +9 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+4 more
GBenign
POMT1
(A440T +9 more)
Single nucleotide variant
(missense variant +1 more)
Walker-Warburg congenital muscular dystrophy
+3 more
GUncertain significance
POMT1
(A440V +9 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+4 more
GUncertain significance
POMT1
(V457I +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
POMT1
(R466C +9 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+4 more
GUncertain significance
POMT1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+4 more
GConflicting classifications of pathogenicity
POMT1
(L483F +9 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
POMT1
Single nucleotide variant
(synonymous variant +2 more)
POMT1-related condition
+5 more
GConflicting classifications of pathogenicity
POMT1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
POMT1
(T506M +9 more)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+4 more
GUncertain significance
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