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Items: 1 to 100 of 278

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMT1
(E40* +2 more)
Single nucleotide variant
(nonsense +4 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(I210fs +11 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(Q231fs +11 more)
Duplication
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(V202fs)
Duplication
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(C244fs +11 more)
Duplication
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(H100fs +3 more)
Deletion
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(W337fs +11 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(H284fs +11 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(N140fs +10 more)
Deletion
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(W217* +11 more)
Single nucleotide variant
(nonsense +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(H100fs +3 more)
Deletion
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
Deletion
(non-coding transcript variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GPathogenic
POMT1
(C124* +3 more)
Single nucleotide variant
(nonsense +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+3 more
GPathogenic/Likely pathogenic
POMT1
(I198fs +11 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+3 more
GPathogenic
POMT1
(T35fs)
Duplication
(frameshift variant +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(Q122fs +3 more)
Duplication
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
Single nucleotide variant
(splice acceptor variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(Y54*)
Single nucleotide variant
(nonsense +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+3 more
GPathogenic/Likely pathogenic
POMT1
(W201* +11 more)
Single nucleotide variant
(nonsense +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(L22fs +10 more)
Duplication
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+3 more
GPathogenic/Likely pathogenic
POMT1
(W106* +4 more)
Single nucleotide variant
(nonsense +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(V141fs +4 more)
Deletion
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(Y116fs +10 more)
Deletion
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GPathogenic
POMT1
Duplication
(splice donor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(F107del +9 more)
Microsatellite
(inframe deletion +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(V230fs +10 more)
Deletion
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(G102fs +10 more)
Deletion
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(S43fs +2 more)
Deletion
(frameshift variant +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+3 more
GPathogenic
POMT1
(Y36fs)
Insertion
(frameshift variant +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(R182* +9 more)
Single nucleotide variant
(nonsense +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+3 more
GPathogenic/Likely pathogenic
POMT1
(K118fs +4 more)
Indel
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
Microsatellite
(splice acceptor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+1 more
GPathogenic/Likely pathogenic
POMT1
(T281fs +9 more)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
POMT1
(V202A)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+4 more
GLikely pathogenic
POMT1
(V213fs +9 more)
Microsatellite
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GPathogenic
POMT1
(G321R +9 more)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GPathogenic
POMT1
(V324I)
Single nucleotide variant
(missense variant +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+3 more
GPathogenic/Likely pathogenic
FKTN
Single nucleotide variant
(synonymous variant +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+6 more
GLikely benign
FKTN
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+5 more
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+4 more
GLikely benign
FKRP
(C375S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GUncertain significance
FKRP
(W231C)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GConflicting classifications of pathogenicity
POMT1
(D326E +9 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+3 more
GUncertain significance
POMT1
(R75C +2 more)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+3 more
GPathogenic/Likely pathogenic
FKRP
(R320H)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GUncertain significance
POMT1
(Y604C +10 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+3 more
GUncertain significance
POMT1
(E44K)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+3 more
GPathogenic/Likely pathogenic
FKTN
(M40T +1 more)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+7 more
GUncertain significance
FKTN
(K296R +2 more)
Single nucleotide variant
(missense variant +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+6 more
GUncertain significance
FKTN
(L57P +1 more)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
FKTN
(H177R +2 more)
Single nucleotide variant
(missense variant +1 more)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(G354E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
FKTN
(L263R +2 more)
Single nucleotide variant
(missense variant +1 more)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(E310Q)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+4 more
GUncertain significance
POMT1
(R33*)
Single nucleotide variant
(nonsense +3 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+3 more
GPathogenic/Likely pathogenic
FKRP
(R181C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
POMT2
(R40G)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+3 more
GUncertain significance
FKRP
(V145G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
POMT1
(V202L)
Single nucleotide variant
(missense variant +2 more)
Walker-Warburg congenital muscular dystrophy
+3 more
GLikely pathogenic
FKRP
(W279R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+4 more
GUncertain significance
POMT1
(V529fs +10 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+4 more
GPathogenic/Likely pathogenic
FKRP
(T294K)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+5 more
GUncertain significance
POMT1
Deletion
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GPathogenic
POMT2
(G646S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2N
+4 more
GUncertain significance
POMT1
Single nucleotide variant
(splice donor variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+4 more
GPathogenic
FKTN
Single nucleotide variant
(synonymous variant +3 more)
Autosomal recessive limb-girdle muscular dystrophy type 2M
+5 more
GLikely benign
POMT1
(Q267* +9 more)
Single nucleotide variant
(nonsense +1 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GPathogenic
POMT1
Single nucleotide variant
(splice acceptor variant)
not provided
+4 more
GLikely pathogenic
FKRP
(V398I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
FKRP
(G373S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
POMT1
(F182C +4 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GUncertain significance
POMT1
(A478T +9 more)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GUncertain significance
FKRP
(G298A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
FKRP
(D206N)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+4 more
GUncertain significance
FKRP
(S494R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FKRP
(S69P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
POMT1
Insertion
(splice donor variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+3 more
GPathogenic/Likely pathogenic
DAG1
(P732T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
+2 more
GUncertain significance
FKRP
(E399K)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
FKRP
(N424S)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GConflicting classifications of pathogenicity
POMT1
Single nucleotide variant
(splice donor variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2K
+3 more
GLikely pathogenic
FKRP
(G476E)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+6 more
GUncertain significance
POMT1
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Dilated cardiomyopathy 1X
+4 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+4 more
GUncertain significance
FKTN
Single nucleotide variant
(3 prime UTR variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
+4 more
GUncertain significance
POMT1
(G495R +9 more)
Single nucleotide variant
(missense variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+4 more
GUncertain significance
POMT1
(L304fs +9 more)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
POMT1
Deletion
(frameshift variant +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+3 more
GPathogenic/Likely pathogenic
FKTN
(H214Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKTN
(F345L +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+6 more
GUncertain significance
FKTN
Deletion
(inframe_deletion +2 more)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
FKRP
(W255R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
FKRP
(E280K)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+4 more
GUncertain significance
FKTN
(E430K +2 more)
Single nucleotide variant
(missense variant +3 more)
Dilated cardiomyopathy 1X
+6 more
GUncertain significance
FKTN
(R233* +2 more)
Single nucleotide variant
(nonsense +1 more)
Walker-Warburg congenital muscular dystrophy
+5 more
GPathogenic/Likely pathogenic
POMT1
(V165fs +4 more)
Deletion
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+4 more
GPathogenic/Likely pathogenic
FKRP
Duplication
(inframe_insertion)
Walker-Warburg congenital muscular dystrophy
+5 more
GUncertain significance
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