"GeneDx"[submitter] AND "SPTLC1"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 58479	GRCh38/hg38 9q22.31(chr9:91935027-92331095)x3	CENPP, IARS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 287303	NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)	SPTLC1 (V471I +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 515991	NM_006415.4(SPTLC1):c.1410C>T (p.Ala470=)	SPTLC1 (R460C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 3368954	NM_006415.4(SPTLC1):c.1405C>G (p.Gln469Glu)	SPTLC1 (P458R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388906	NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser)	SPTLC1 (A468S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1042690	NM_006415.4(SPTLC1):c.1393A>G (p.Lys465Glu)	SPTLC1 (K343E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1303877	NM_006415.4(SPTLC1):c.1329-1G>T	SPTLC1	Single nucleotide variant (intron variant +1 more)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GUncertain significance
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 1205559	NM_006415.4(SPTLC1):c.1288C>T (p.Arg430Cys)	SPTLC1 (R275C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1303389	NM_006415.4(SPTLC1):c.1286C>T (p.Ala429Val)	SPTLC1 (A274V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 451083	NM_006415.4(SPTLC1):c.1190A>T (p.Gln397Leu)	SPTLC1 (Q397L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367315	NM_006415.4(SPTLC1):c.1184del (p.His395fs)	SPTLC1 (H240fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
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 682117	NM_006415.4(SPTLC1):c.1137-6C>T	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1 +2 more	GLikely benign
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 510747	NM_006415.4(SPTLC1):c.1136+14A>T	SPTLC1	Single nucleotide variant (intron variant)	not specified +1 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 386465	NM_006415.4(SPTLC1):c.1081+10T>C	SPTLC1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 373162	NM_006415.4(SPTLC1):c.1030_1031del (p.Leu344fs)	SPTLC1 (L189fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 451061	NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu)	SPTLC1 (S340L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 367548	NM_006415.4(SPTLC1):c.985-5C>T	SPTLC1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 386931	NM_006415.4(SPTLC1):c.963G>A (p.Arg321=)	SPTLC1	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 1 +2 more	GLikely benign
Select item 3368371	NM_006415.4(SPTLC1):c.958G>A (p.Gly320Ser)	SPTLC1 (G165S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 245877	NM_006415.4(SPTLC1):c.889-5G>A	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1 +2 more	GUncertain significance
Select item 388379	NM_006415.4(SPTLC1):c.888T>C (p.Asn296=)	SPTLC1	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GLikely benign
Select item 3369335	NM_006415.4(SPTLC1):c.883A>T (p.Ile295Phe)	SPTLC1 (I140F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 864757	NM_006415.4(SPTLC1):c.859C>T (p.Arg287Ter)	SPTLC1 (R132* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 2917434	NM_006415.4(SPTLC1):c.832T>G (p.Ser278Ala)	SPTLC1 (S156A +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GUncertain significance
Select item 456604	NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=)	SPTLC1	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 1 +4 more	GLikely benign
Select item 234762	NM_006415.4(SPTLC1):c.784A>G (p.Lys262Glu)	SPTLC1 (K262E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 1695675	NM_006415.4(SPTLC1):c.689A>C (p.Lys230Thr)	SPTLC1 (K108T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 855466	NM_006415.4(SPTLC1):c.667G>T (p.Glu223Ter)	SPTLC1 (E101* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1194656	NM_006415.4(SPTLC1):c.656G>A (p.Arg219Gln)	SPTLC1 (R219Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 512595	NM_006415.4(SPTLC1):c.609T>C (p.Arg203=)	SPTLC1	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 1 +2 more	GLikely benign
Select item 511293	NM_006415.4(SPTLC1):c.560+16G>A	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1 +2 more	GLikely benign
Select item 139321	NM_006415.4(SPTLC1):c.560+16G>C	SPTLC1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 668658	NM_006415.4(SPTLC1):c.555T>G (p.Val185=)	SPTLC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 426856	NM_006415.4(SPTLC1):c.472A>G (p.Thr158Ala)	SPTLC1 (T158A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1704982	NM_006415.4(SPTLC1):c.449A>G (p.Asp150Gly)	SPTLC1 (D150G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 451260	NM_006415.4(SPTLC1):c.428A>T (p.Asp143Val)	SPTLC1 (D143V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 426895	NM_006415.4(SPTLC1):c.388G>A (p.Val130Met)	SPTLC1 (V130M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 517810	NM_006415.4(SPTLC1):c.354+12A>G	SPTLC1	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 450776	NM_006415.4(SPTLC1):c.310G>C (p.Ala104Pro)	SPTLC1 (A104P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 390555	NM_006415.4(SPTLC1):c.261-18A>G	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GLikely benign
Select item 506871	NM_006415.4(SPTLC1):c.252C>T (p.Ile84=)	SPTLC1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 234709	NM_006415.4(SPTLC1):c.208G>T (p.Val70Phe)	SPTLC1 (V70F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 420363	NM_006415.4(SPTLC1):c.165+19_165+20del	SPTLC1	Deletion (intron variant)	not specified	GLikely benign
Select item 449988	NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu)	SPTLC1 (F40L)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 1 +4 more	GConflicting classifications of pathogenicity
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 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 508983	NM_006415.4(SPTLC1):c.57+13C>G	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GLikely benign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 3360133	NM_006415.4(SPTLC1):c.1252C>T (p.Gln418Ter)	SPTLC1 (Q263* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 66