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Items: 1 to 100 of 143

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMGNT1
Deletion
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(Q341* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(E145* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
TSPAN1, POMGNT1
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
Duplication
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1
(E51fs +1 more)
Duplication
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(A223fs +2 more)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(I267fs +2 more)
Microsatellite
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(Q386* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(C419fs +2 more)
Duplication
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(M334fs +2 more)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1
(L77P +1 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(W323* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(W323* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(G192* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(S173fs +2 more)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1
Deletion
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
Deletion
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(A178fs +2 more)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(splice donor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(K394* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GPathogenic
POMGNT1, TSPAN1
(I109fs +1 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+2 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
(C419* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+2 more
GLikely pathogenic
POMGNT1
(Y111* +1 more)
Single nucleotide variant
(nonsense +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1
(Q32fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(S10* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1
(V103fs +1 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(P102fs +2 more)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1
(Q54* +1 more)
Single nucleotide variant
(nonsense +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
TSPAN1, POMGNT1
(K205fs +2 more)
Indel
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(K376fs +2 more)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(E292fs +2 more)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1
(R36fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(I194fs +2 more)
Duplication
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(K230* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1
(F24fs +1 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(W212* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(P339fs +2 more)
Indel
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
TSPAN1, POMGNT1
(R172fs +2 more)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1
(E48fs +1 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(S407G +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GUncertain significance
POMGNT1
Single nucleotide variant
(splice donor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+2 more
GLikely pathogenic
POMGNT1
(P66fs +1 more)
Duplication
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1
(S106R +1 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
(G286V +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GLikely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+3 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(splice donor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+3 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+3 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(F565fs +2 more)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+2 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+3 more
GUncertain significance
POMGNT1, TSPAN1
(R354* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy
+5 more
GConflicting classifications of pathogenicity
POMGNT1
(R41P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
POMGNT1, TSPAN1
(K230Q +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+3 more
GUncertain significance
POMGNT1
(Q54K +1 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+3 more
GUncertain significance
POMGNT1, TSPAN1
(A718V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+3 more
GUncertain significance
POMGNT1, TSPAN1
(R124C +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+3 more
GUncertain significance
POMGNT1, TSPAN1
(P418S +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+3 more
GUncertain significance
POMGNT1, TSPAN1
(N158S +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+3 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(R122C +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+3 more
GUncertain significance
POMGNT1, TSPAN1
(K219R +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+3 more
GUncertain significance
TSPAN1, POMGNT1
Single nucleotide variant
(splice donor variant)
POMGNT1-related disorder
+3 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
(G213R +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
GUncertain significance
POMGNT1, TSPAN1
(R587Q +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+5 more
GUncertain significance
POMGNT1, TSPAN1
(R224H +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+6 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(R149Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+4 more
GUncertain significance
POMGNT1
(E102* +1 more)
Single nucleotide variant
(nonsense +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+3 more
GPathogenic
POMGNT1, TSPAN1
(R299H +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+5 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
POMGNT1-related disorder
+4 more
GLikely benign
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
TSPAN1, POMGNT1
(R488* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+4 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
(T431I +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+3 more
GUncertain significance
POMGNT1, TSPAN1
(R149* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+3 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+3 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(splice donor variant)
POMGNT1-related disorder
+3 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(Q331* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+3 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
(P303L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1, TSPAN1
(R129W +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+6 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(splice donor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+1 more
GLikely pathogenic
TSPAN1, POMGNT1
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+3 more
GLikely pathogenic
POMGNT1, TSPAN1
(G505S +2 more)
Single nucleotide variant
(missense variant)
Muscle eye brain disease
+6 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(splice donor variant)
Muscle eye brain disease
+3 more
GLikely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+4 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
(S153* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+3 more
GPathogenic
POMGNT1, TSPAN1
Deletion
(splice donor variant)
Muscle eye brain disease
+3 more
GLikely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
POMGNT1
(R36Q)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+4 more
GUncertain significance
POMGNT1, TSPAN1
(R147H +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 76
+4 more
GUncertain significance
POMGNT1, TSPAN1
(V119M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
POMGNT1, TSPAN1
(M160fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+4 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
(D149fs +2 more)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+1 more
GLikely pathogenic
POMGNT1
(R63fs +1 more)
Insertion
(frameshift variant +1 more)
Muscle eye brain disease
+3 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
(S543fs +2 more)
Microsatellite
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+4 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
Deletion
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+5 more
GConflicting classifications of pathogenicity
POMGNT1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+3 more
GLikely pathogenic
POMGNT1, TSPAN1
Deletion
(splice donor variant)
Muscle eye brain disease
+4 more
GLikely pathogenic
POMGNT1, TSPAN1
(R486G +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+6 more
GUncertain significance
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