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Links from Gene

Items: 1 to 100 of 774

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPEG
(V2406I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
SPEG-related disorder
GLikely benign
ASIC4-AS1, SPEG
(T3124M)
Single nucleotide variant
(missense variant)
SPEG-related disorder
GUncertain significance
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
SPEG-related disorder
GLikely benign
ASIC4-AS1, SPEG
(P2046fs)
Duplication
(frameshift variant)
SPEG-related disorder
GLikely pathogenic
ASIC4-AS1, SPEG
(V2724G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
(S2094T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(H2587R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(A2885G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(C2635Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(R2418W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(R2100P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(A2050V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(R3056Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(R2139Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(A2207fs)
Duplication
(frameshift variant)
Myopathy, centronuclear, 5
GPathogenic
ASIC4-AS1, SPEG
(E3002*)
Single nucleotide variant
(nonsense)
Myopathy, centronuclear, 5
GLikely pathogenic
SPEG
(I1173L)
Single nucleotide variant
(missense variant)
Myopathy, centronuclear, 5
GUncertain significance
ASIC4-AS1, SPEG
(R3249Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(S3188F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(S2896F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(V2876I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(R2714Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(E2497Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(S2474T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(S2474R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(R2416Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(A2239V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(A2234T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(L2075R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(G2031V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(A1967S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(R1891C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
(S1864N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASIC4-AS1, SPEG
Single nucleotide variant
(3 prime UTR variant)
SPEG-related disorder
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
(T2460I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
(R2503C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
(L2803fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
(R2753C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
(P2232S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
(A2794V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
(I2883N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Deletion
(intron variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
(R2022P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
(S2412P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
(G2078D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
(R2847*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ASIC4-AS1, SPEG
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
SPEG, ASIC4-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPEG, ASIC4-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
(L2345fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ASIC4-AS1, SPEG
(L3091V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
(R2293C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASIC4-AS1, SPEG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ASIC4-AS1, SPEG
(E2570del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
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