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Items: 1 to 100 of 1088

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLA2G4C, PLA2G4C-AS1
+363 more
Copy number gain
See cases
GPathogenic
CALM3, CCDC61
+190 more
Copy number loss
See cases
GLikely pathogenic
CALM3, DACT3
+46 more
Copy number gain
See cases
GUncertain significance
CALM3, DACT3
+46 more
Copy number gain
See cases
GUncertain significance
AP2S1, ARHGAP35
+123 more
Copy number loss
See cases
GPathogenic
AP2S1, ARHGAP35
+290 more
Copy number gain
See cases
GPathogenic
FKRP, LOC130064775
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
STRN4, FKRP
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
FKRP, LOC130064775
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
FKRP, LOC130064775
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKRP, LOC130064775
+1 more
Microsatellite
(5 prime UTR variant +1 more)
not specified
GLikely benign
FKRP, LOC130064775
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2I
GPathogenic
FKRP, LOC130064775
+1 more
Microsatellite
(5 prime UTR variant +1 more)
not specified
GLikely benign
FKRP, LOC130064775
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
FKRP-related disorder
GLikely benign
FKRP, LOC130064775
+1 more
Single nucleotide variant
(intron variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GUncertain significance
LOC130064775, STRN4
+1 more
Microsatellite
(intron variant)
not provided
GBenign
FKRP, LOC130064775
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
STRN4, LOC130064775
+1 more
Single nucleotide variant
(intron variant)
not specified
GLikely benign
FKRP, LOC130064775
+1 more
(A91V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKRP, LOC130064775
+1 more
(A84V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKRP, STRN4
(E61A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKRP, STRN4
(S53R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKRP, STRN4
(A38D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKRP, STRN4
(S35P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKRP, STRN4
(P19Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKRP, STRN4
(R18C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FKRP, STRN4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FKRP, STRN4
(E4*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
FKRP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKRP
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
FKRP
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
FKRP
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
FKRP
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
FKRP
Single nucleotide variant
(intron variant)
not provided
GBenign
FKRP
Deletion
(5 prime UTR variant)
not specified
GLikely benign
FKRP
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GBenign
FKRP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKRP
Deletion
(splice acceptor variant +1 more)
Walker-Warburg congenital muscular dystrophy
GPathogenic
FKRP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKRP
Duplication
(intron variant)
not provided
GLikely benign
FKRP
Deletion
(intron variant)
not provided
GBenign
FKRP
Deletion
(intron variant)
not provided
GLikely benign
FKRP
Single nucleotide variant
(intron variant)
not specified
GLikely benign
FKRP
Single nucleotide variant
(intron variant)
not specified
GLikely benign
FKRP
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GBenign
FKRP
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
FKRP
Deletion
Walker-Warburg congenital muscular dystrophy
GPathogenic
FKRP
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
GUncertain significance
FKRP
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
FKRP
(M1L)
Single nucleotide variant
(missense variant +1 more)
Walker-Warburg congenital muscular dystrophy
GPathogenic
FKRP
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
(R2W)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(R2Q)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(R2L)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+4 more
GLikely benign
FKRP
(T4A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+3 more
GUncertain significance
FKRP
(T4S)
Single nucleotide variant
(missense variant)
not specified
+7 more
GUncertain significance
FKRP
(R5C)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
(C6R)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
FKRP
(Q7*)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy
GLikely pathogenic
FKRP
(A8T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
FKRP
(A9V)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
(A13del)
Microsatellite
(inframe_deletion)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(A11V)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
FKRP
(A13T)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(T15P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FKRP
(T15I)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
(L18F)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(V20A)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
(L21F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
FKRP
(Y23C)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B5
+5 more
GUncertain significance
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
(S25fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
(S25*)
Single nucleotide variant
(nonsense)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
(W26fs)
Deletion
(frameshift variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
FKRP
(W26L)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKRP
(W26*)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+1 more
GPathogenic/Likely pathogenic
FKRP
(W26*)
Single nucleotide variant
(nonsense)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GLikely pathogenic
FKRP
Single nucleotide variant
(synonymous variant)
Walker-Warburg congenital muscular dystrophy
GLikely benign
FKRP
(Q28*)
Indel
(nonsense)
Walker-Warburg congenital muscular dystrophy
GPathogenic
FKRP
(Q28E)
Single nucleotide variant
(missense variant)
Walker-Warburg congenital muscular dystrophy
+1 more
GUncertain significance
FKRP
(Q28R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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