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Items: 89

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMGNT1, TSPAN1
(T660I +2 more)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GUncertain significance
POMGNT1, TSPAN1
(G636A +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POMGNT1, TSPAN1
(F643V +3 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 76
+6 more
GUncertain significance
POMGNT1, TSPAN1
(N633H)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GConflicting classifications of pathogenicity
TSPAN1, POMGNT1
(L629F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POMGNT1, TSPAN1
(M480V +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 76
+5 more
GBenign
POMGNT1, TSPAN1
(N619Y +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+2 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+3 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(R609W +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1, TSPAN1
(R605C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+3 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(D586del +2 more)
Microsatellite
(inframe_deletion)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+2 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+3 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(F578L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(D556N +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 76
+7 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+2 more
GConflicting classifications of pathogenicity
TSPAN1, POMGNT1
(L549F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+5 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(H520Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(splice donor variant)
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
+10 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+2 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(Y511C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
(V504I +2 more)
Single nucleotide variant
(missense variant)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+5 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(R497Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(R488G +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 76
+4 more
GUncertain significance
POMGNT1, TSPAN1
(R486L +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+2 more
GUncertain significance
POMGNT1, TSPAN1
(R486Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1, TSPAN1
(R486G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
POMGNT1, TSPAN1
(R485H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(R480W +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 76
+3 more
GUncertain significance
POMGNT1, TSPAN1
(P469L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POMGNT1, TSPAN1
(E460A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
(R442C +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
TSPAN1, POMGNT1
(T433M +2 more)
Single nucleotide variant
(missense variant)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+5 more
GBenign/Likely benign
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TSPAN1, POMGNT1
(I422L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1, TSPAN1
(S407N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
(A399T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(A386V +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+2 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
(P384R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
(F380S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(I361T +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+2 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(G339C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
(I337T +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+6 more
GConflicting classifications of pathogenicity
TSPAN1, POMGNT1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+3 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(R320C +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1, TSPAN1
(R311* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+3 more
GPathogenic
POMGNT1, TSPAN1
(D296E +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(S280N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(R266Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
(R263H +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
POMGNT1, TSPAN1
(E253V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1, TSPAN1
(D236H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+7 more
GBenign
POMGNT1, TSPAN1
(G222R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+3 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(D187E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
POMGNT1-related condition
+4 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(A168V +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+3 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+3 more
GConflicting classifications of pathogenicity
TSPAN1, POMGNT1
(M160fs +2 more)
Duplication
(frameshift variant)
not provided
GPathogenic
POMGNT1, TSPAN1
(P154L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TSPAN1, POMGNT1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(T151M +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(V143M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
POMGNT1-related condition
+5 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
POMGNT1, TSPAN1
(T140A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
TSPAN1, POMGNT1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(R129Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy
+3 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(L120V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GConflicting classifications of pathogenicity
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