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Links from MedGen

Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTLC1
(T15A +2 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
(R174Q +2 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GLikely pathogenic
SPTLC1
(V287G +2 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
(V9I)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GBenign
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
(L221I +2 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 1A
+2 more
GUncertain significance
SPTLC1
(R236H +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 1
+1 more
GUncertain significance
SPTLC1
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 1
+1 more
GConflicting classifications of pathogenicity
SPTLC1
(G232E +2 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 1A
+2 more
GUncertain significance
SPTLC1
(L198F +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 1
+1 more
GUncertain significance
SPTLC1
(I170T +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 1
+1 more
GUncertain significance
SPTLC1
(L39del)
Microsatellite
(inframe_deletion +1 more)
Neuropathy, hereditary sensory and autonomic, type 1A
+7 more
GPathogenic/Likely pathogenic
SPTLC1
(H24R)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory and autonomic neuropathy type 1
+1 more
GUncertain significance
SPTLC1
(T158S +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 1
+1 more
GUncertain significance
SPTLC1
(A104T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
SPTLC1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
SPTLC1
(R329* +2 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease
+1 more
GUncertain significance
SPTLC1
(A310G +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 1
+1 more
GUncertain significance
SPTLC1
(R405H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SPTLC1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
SPTLC1
(Y23F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
SPTLC1
(F40L)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 1A
+4 more
GConflicting classifications of pathogenicity
SPTLC1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 1A
+2 more
GConflicting classifications of pathogenicity
SPTLC1
Single nucleotide variant
(5 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 1A
+1 more
GConflicting classifications of pathogenicity
SPTLC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign/Likely benign
SPTLC1
(R151L +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory and autonomic neuropathy type 1
+3 more
GBenign/Likely benign
SPTLC1
(M214V +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 1
+1 more
GConflicting classifications of pathogenicity
SPTLC1
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
SPTLC1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
SPTLC1
Microsatellite
(intron variant)
Hereditary sensory and autonomic neuropathy type 1
+3 more
GBenign/Likely benign
SPTLC1
Single nucleotide variant
(synonymous variant)
Hereditary sensory and autonomic neuropathy type 1
+3 more
GLikely benign
SPTLC1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
SPTLC1
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 1
+4 more
GBenign/Likely benign
SPTLC1
(K505R)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 1A
+1 more
GBenign/Likely benign
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GBenign
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GBenign
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GLikely benign
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GBenign
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GBenign
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GUncertain significance
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GBenign
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GBenign
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GLikely benign
SPTLC1
Single nucleotide variant
(3 prime UTR variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GBenign
SPTLC1
(V471I +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 1A
+4 more
GBenign/Likely benign
SPTLC1
Single nucleotide variant
(synonymous variant +1 more)
SPTLC1-related condition
+5 more
GLikely benign
SPTLC1
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory and autonomic, type 1A
+5 more
GBenign/Likely benign
SPTLC1
Single nucleotide variant
(intron variant)
Hereditary sensory and autonomic neuropathy type 1
+2 more
GBenign
SPTLC1
(A352V +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 1
GUncertain significance
SPTLC1
(S331F +2 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 1A
GPathogenic
SPTLC1
(C133W)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory and autonomic neuropathy type 1
+1 more
GPathogenic
SPTLC1
(G387A +2 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 1A
+4 more
GBenign/Likely benign
SPTLC1
(V144D +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory and autonomic neuropathy type 1
+4 more
GPathogenic/Likely pathogenic
SPTLC1
(C133Y)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory and autonomic neuropathy type 1
+1 more
GPathogenic
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