ClinVar for MedGen (Select 1716450) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578443	NM_006415.4(SPTLC1):c.508A>G (p.Thr170Ala)	SPTLC1 (T15A +2 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 1308661	NM_006415.4(SPTLC1):c.986G>A (p.Arg329Gln)	SPTLC1 (R174Q +2 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GLikely pathogenic
Select item 915064	NM_006415.4(SPTLC1):c.1226T>G (p.Val409Gly)	SPTLC1 (V287G +2 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 915016	NM_006415.4(SPTLC1):c.*1307C>T	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 913466	NM_006415.4(SPTLC1):c.25G>A (p.Val9Ile)	SPTLC1 (V9I)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 913465	NM_006415.4(SPTLC1):c.442T>C (p.Leu148=)	SPTLC1	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 913421	NM_006415.4(SPTLC1):c.*451G>T	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 913420	NM_006415.4(SPTLC1):c.*490A>G	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GBenign
Select item 913059	NM_006415.4(SPTLC1):c.*797T>G	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 912333	NM_006415.4(SPTLC1):c.661C>A (p.Leu221Ile)	SPTLC1 (L221I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 912332	NM_006415.4(SPTLC1):c.707G>A (p.Arg236His)	SPTLC1 (R236H +2 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1A +1 more	GUncertain significance
Select item 860758	NM_006415.4(SPTLC1):c.165+4C>T	SPTLC1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1A +1 more	GConflicting classifications of pathogenicity
Select item 857854	NM_006415.4(SPTLC1):c.1160G>A (p.Gly387Glu)	SPTLC1 (G232E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 812049	NM_006415.4(SPTLC1):c.1057C>T (p.Leu353Phe)	SPTLC1 (L198F +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GUncertain significance
Select item 811408	NM_006415.4(SPTLC1):c.974T>C (p.Ile325Thr)	SPTLC1 (I170T +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GUncertain significance
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 660001	NM_006415.4(SPTLC1):c.71A>G (p.His24Arg)	SPTLC1 (H24R)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 1A +1 more	GUncertain significance
Select item 576860	NM_006415.4(SPTLC1):c.472A>T (p.Thr158Ser)	SPTLC1 (T158S +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GUncertain significance
Select item 573814	NM_006415.4(SPTLC1):c.310G>A (p.Ala104Thr)	SPTLC1 (A104T)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 1 +2 more	GUncertain significance
Select item 526713	NM_006415.4(SPTLC1):c.501A>G (p.Gly167=)	SPTLC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 526711	NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter)	SPTLC1 (R329* +2 more)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GUncertain significance
Select item 526710	NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly)	SPTLC1 (A310G +2 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1A +1 more	GUncertain significance
Select item 526709	NM_006415.4(SPTLC1):c.1214G>A (p.Arg405His)	SPTLC1 (R405H +2 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1A +2 more	GUncertain significance
Select item 456604	NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=)	SPTLC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
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 449988	NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu)	SPTLC1 (F40L)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 380134	NM_006415.4(SPTLC1):c.1329-9T>C	SPTLC1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 367553	NM_006415.4(SPTLC1):c.-27C>T	SPTLC1	Single nucleotide variant (5 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 367552	NM_006415.4(SPTLC1):c.58-9C>T	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GConflicting classifications of pathogenicity
Select item 367551	NM_006415.4(SPTLC1):c.387C>T (p.Gly129=)	SPTLC1	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 1A +4 more	GBenign/Likely benign
Select item 367550	NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu)	SPTLC1 (R151L +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 1A +3 more	GBenign/Likely benign
Select item 367549	NM_006415.4(SPTLC1):c.640A>G (p.Met214Val)	SPTLC1 (M214V +2 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1A +1 more	GConflicting classifications of pathogenicity
Select item 367548	NM_006415.4(SPTLC1):c.985-5C>T	SPTLC1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 367547	NM_006415.4(SPTLC1):c.1136+12A>G	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1 +3 more	GBenign
Select item 367546	NM_006415.4(SPTLC1):c.1137-23GT[6]	SPTLC1	Microsatellite (intron variant)	Hereditary sensory and autonomic neuropathy type 1 +3 more	GBenign/Likely benign
Select item 367545	NM_006415.4(SPTLC1):c.1221A>G (p.Gln407=)	SPTLC1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1A +3 more	GLikely benign
Select item 367544	NM_006415.4(SPTLC1):c.1254+10C>T	SPTLC1	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1A +3 more	GBenign/Likely benign
Select item 367543	NM_006415.4(SPTLC1):c.1255-7C>T	SPTLC1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 367542	NM_006415.4(SPTLC1):c.*124A>G	SPTLC1 (K505R)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 1A +1 more	GBenign/Likely benign
Select item 367541	NM_006415.4(SPTLC1):c.*178T>A	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GBenign
Select item 367540	NM_006415.4(SPTLC1):c.*190A>C	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GBenign
Select item 367539	NM_006415.4(SPTLC1):c.*200G>T	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 367538	NM_006415.4(SPTLC1):c.*445A>G	SPTLC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 367537	NM_006415.4(SPTLC1):c.*451G>A	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 367536	NM_006415.4(SPTLC1):c.*483A>G	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GBenign
Select item 367535	NM_006415.4(SPTLC1):c.*503C>T	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 367534	NM_006415.4(SPTLC1):c.*605T>C	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 367533	NM_006415.4(SPTLC1):c.*631G>C	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 367532	NM_006415.4(SPTLC1):c.*750C>T	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 367531	NM_006415.4(SPTLC1):c.*1009G>T	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GBenign
Select item 367530	NM_006415.4(SPTLC1):c.*1093G>A	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GUncertain significance
Select item 367529	NM_006415.4(SPTLC1):c.*1154T>C	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GBenign
Select item 367528	NM_006415.4(SPTLC1):c.*1170T>C	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GBenign
Select item 367527	NM_006415.4(SPTLC1):c.*1226G>T	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GLikely benign
Select item 367526	NM_006415.4(SPTLC1):c.*1302T>G	SPTLC1	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GBenign
Select item 287303	NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)	SPTLC1 (V471I +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1A +4 more	GBenign/Likely benign
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
Select item 197278	NM_006415.4(SPTLC1):c.261C>T (p.Gly87=)	SPTLC1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 139322	NM_006415.4(SPTLC1):c.781-6A>G	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1 +4 more	GBenign/Likely benign
Select item 139321	NM_006415.4(SPTLC1):c.560+16G>C	SPTLC1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 4805	NM_006415.4(SPTLC1):c.1055C>T (p.Ala352Val)	SPTLC1 (A352V +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 4804	NM_006415.4(SPTLC1):c.992C>T (p.Ser331Phe)	SPTLC1 (S331F +2 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1A	GPathogenic
Select item 4803	NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp)	SPTLC1 (C133W)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 1 +2 more	GPathogenic
Select item 4802	NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)	SPTLC1 (G387A +2 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1A +4 more	GBenign/Likely benign
Select item 4801	NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)	SPTLC1 (V144D +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +4 more	GPathogenic/Likely pathogenic
Select item 4800	NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr)	SPTLC1 (C133Y)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GPathogenic

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Items: 66