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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTLC1
(L39del)
Microsatellite
(inframe_deletion +1 more)
Neuropathy, hereditary sensory and autonomic, type 1A
+7 more
GPathogenic/Likely pathogenic
TTN
(K3815T +4 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy
+4 more
GUncertain significance
DMD
(W546* +3 more)
Single nucleotide variant
(nonsense)
Calf muscle hypertrophy
+7 more
GPathogenic
MYH14
Single nucleotide variant
(intron variant)
EMG abnormality
+7 more
GUncertain significance
KIF1B
(R1463C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+6 more
GUncertain significance
GALC
(G284S +2 more)
Single nucleotide variant
(missense variant)
Developmental regression
+20 more
GPathogenic/Likely pathogenic
GALC
(A66T +1 more)
Single nucleotide variant
(missense variant +1 more)
Galactosylceramide beta-galactosidase deficiency
+19 more
GLikely pathogenic
COL12A1
(Q428fs)
Deletion
(frameshift variant +1 more)
EMG abnormality
+1 more
GUncertain significance
KIF1B
(E825K +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
SELENON
(R161Q +1 more)
Single nucleotide variant
(missense variant)
See cases
+5 more
GUncertain significance
OPA1
Deletion
(inframe_deletion +1 more)
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
+12 more
GConflicting classifications of pathogenicity
COL6A1
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TRPV4
(R316H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
+1 more
GPathogenic/Likely pathogenic
COL7A1
(R2069C)
Single nucleotide variant
(missense variant)
Decreased body weight
+23 more
GPathogenic/Likely pathogenic
COL7A1
(R236*)
Single nucleotide variant
(nonsense)
not provided
+15 more
GPathogenic
RYR1
(M2423K)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+7 more
GConflicting classifications of pathogenicity
MFN2
(R94W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+21 more
GPathogenic
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