ClinVar for MedGen (Select 1840995) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444011	NM_006415.4(SPTLC1):c.113T>G (p.Leu38Arg)	SPTLC1	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis 27, juvenile	GPathogenic
Select item 997832	NM_006415.4(SPTLC1):c.118_123del (p.Phe40_Ser41del)	SPTLC1	Deletion (inframe_deletion +1 more)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 802489	NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del)	SPTLC1 (L39del)	Microsatellite (inframe_deletion +1 more)	Hereditary sensory and autonomic neuropathy type 1 +7 more	GPathogenic/Likely pathogenic
Select item 450572	NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe)	SPTLC1 (Y23F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 372788	NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr)	SPTLC1 (S331Y +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GPathogenic
Select item 246520	NM_006415.4(SPTLC1):c.58G>T (p.Ala20Ser)	SPTLC1 (A20S)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 1A +1 more	GPathogenic

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