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Items: 1 to 100 of 231

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+1 more
GLikely benign
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GLikely benign
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1
(R107H +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1, TSPAN1
(G305R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GLikely benign
POMGNT1, TSPAN1
(G183D +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1
(R41Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1, TSPAN1
(S186F +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1, TSPAN1
(A167P +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POMGNT1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GLikely benign
POMGNT1, TSPAN1
(R149Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+4 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GLikely benign
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GLikely benign
POMGNT1, TSPAN1
(R653S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Muscle eye brain disease
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
(M623L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GLikely benign
POMGNT1
(R62Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1, TSPAN1
(R177H +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1
(T39A +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1, TSPAN1
(L472I +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GLikely pathogenic
POMGNT1, TSPAN1
(T188A +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1
(P8T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1
(K87E +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1, TSPAN1
(R473W +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1, TSPAN1
(P487R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
(V368M +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1, TSPAN1
(L629V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GLikely benign
POMGNT1, TSPAN1
(A451S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
POMGNT1, TSPAN1
(G309E +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+1 more
GUncertain significance
TSPAN1, POMGNT1
(K322N +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+1 more
GUncertain significance
POMGNT1, TSPAN1
(P241L +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+2 more
GUncertain significance
POMGNT1, TSPAN1
(D236N +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
TSPAN1, POMGNT1
(S280F +2 more)
Single nucleotide variant
(missense variant)
Muscle eye brain disease
GLikely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+1 more
GLikely benign
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+1 more
GLikely benign
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+1 more
GLikely benign
TSPAN1, POMGNT1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+2 more
GLikely benign
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+4 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GLikely benign
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+1 more
GLikely benign
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GBenign/Likely benign
POMGNT1, TSPAN1
(R123W +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+3 more
GConflicting classifications of pathogenicity
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
POMGNT1-related disorder
+4 more
GLikely benign
POMGNT1, TSPAN1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GLikely benign
POMGNT1
(R62C +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1
(D3Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POMGNT1
(R40W +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
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
(K499E +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+2 more
GUncertain significance
POMGNT1, TSPAN1
(H535N +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+1 more
GUncertain significance
POMGNT1
(N32D +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1, TSPAN1
(P615L +2 more)
Single nucleotide variant
(synonymous variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+1 more
GUncertain significance
POMGNT1, TSPAN1
(R147C +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1
(R96Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital Muscular Dystrophy, alpha-dystroglycan related
+3 more
GUncertain significance
POMGNT1, TSPAN1
(S543T +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1, TSPAN1
(V378L +2 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+1 more
GUncertain significance
POMGNT1, TSPAN1
(V483I +2 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+1 more
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+3 more
GPathogenic/Likely pathogenic
POMGNT1
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
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
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1
(V53I +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+2 more
GUncertain significance
POMGNT1, TSPAN1
(I642F +3 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+3 more
GUncertain significance
POMGNT1
(R62P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1, TSPAN1
(F566S +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GLikely benign
TSPAN1, POMGNT1
(T140M +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2O
+1 more
GUncertain significance
POMGNT1, TSPAN1
(E251D +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
POMGNT1, TSPAN1
(R265P +2 more)
Single nucleotide variant
(missense variant)
Muscle eye brain disease
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
Deletion
(inframe_deletion +1 more)
Muscle eye brain disease
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(splice donor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
+1 more
GLikely pathogenic
POMGNT1, TSPAN1
Deletion
(3 prime UTR variant +1 more)
Muscle eye brain disease
GUncertain significance
POMGNT1, TSPAN1
Duplication
(inframe_insertion)
Muscle eye brain disease
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(intron variant +1 more)
Muscle eye brain disease
+2 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
(K492fs +3 more)
Deletion
(frameshift variant)
Muscle eye brain disease
GLikely pathogenic
POMGNT1, TSPAN1
(A701fs)
Duplication
(frameshift variant +1 more)
Muscle eye brain disease
GUncertain significance
TSPAN1, POMGNT1
(L614del +2 more)
Deletion
(inframe_deletion)
Muscle eye brain disease
GUncertain significance
POMGNT1, TSPAN1
(P656del)
Microsatellite
(inframe_deletion +1 more)
Muscle eye brain disease
GUncertain significance
TSPAN1, POMGNT1
Single nucleotide variant
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+3 more
GLikely pathogenic
POMGNT1, TSPAN1
(W732*)
Single nucleotide variant
(nonsense +1 more)
Muscle eye brain disease
GUncertain significance
POMGNT1, TSPAN1
(K649N +3 more)
Single nucleotide variant
(nonsense +1 more)
Muscle eye brain disease
GUncertain significance
TSPAN1, POMGNT1
(L737fs)
Deletion
(frameshift variant +1 more)
Muscle eye brain disease
GUncertain significance
POMGNT1, TSPAN1
Insertion
(intron variant)
Muscle eye brain disease
GLikely benign
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
(Q743*)
Single nucleotide variant
(nonsense +1 more)
Muscle eye brain disease
GUncertain significance
POMGNT1, TSPAN1
Single nucleotide variant
(splice donor variant)
Muscle eye brain disease
+2 more
GLikely pathogenic
POMGNT1
Deletion
(nonsense +1 more)
Muscle eye brain disease
GLikely pathogenic
POMGNT1, TSPAN1
(K618* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+2 more
GPathogenic/Likely pathogenic
POMGNT1, TSPAN1
Single nucleotide variant
(splice acceptor variant)
Muscle eye brain disease
+2 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
Single nucleotide variant
(splice acceptor variant)
Muscle eye brain disease
+2 more
GLikely pathogenic
POMGNT1, TSPAN1
(S153* +2 more)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
+3 more
GPathogenic
POMGNT1, TSPAN1
(L622P +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
(splice donor variant)
Muscle eye brain disease
GLikely pathogenic
TSPAN1, POMGNT1
Single nucleotide variant
(splice acceptor variant)
Muscle eye brain disease
GLikely pathogenic
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