"GeneDx"[submitter] AND "SPTLC2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 378668	NM_004863.4(SPTLC2):c.*6T>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 314663	NM_004863.4(SPTLC2):c.*6T>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GBenign
Select item 314664	NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met)	SPTLC2 (T555M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 572090	NM_004863.4(SPTLC2):c.1622G>A (p.Arg541His)	SPTLC2 (R541H)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GUncertain significance
Select item 380350	NM_004863.4(SPTLC2):c.1614G>A (p.Lys538=)	SPTLC2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 392157	NM_004863.4(SPTLC2):c.1603T>C (p.Leu535=)	SPTLC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1201353	NM_004863.4(SPTLC2):c.1570-107C>T	SPTLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197345	NM_004863.4(SPTLC2):c.1570-219C>G	SPTLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229752	NM_004863.4(SPTLC2):c.1569+297_1569+298del	SPTLC2	Deletion (intron variant)	not provided	GBenign
Select item 314667	NM_004863.4(SPTLC2):c.1449A>T (p.Gly483=)	SPTLC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 383823	NM_004863.4(SPTLC2):c.1440-5T>G	SPTLC2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 674225	NM_004863.4(SPTLC2):c.1440-30T>G	SPTLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670140	NM_004863.4(SPTLC2):c.1440-63G>A	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261531	NM_004863.4(SPTLC2):c.1440-258C>T	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 314668	NM_004863.4(SPTLC2):c.1428T>G (p.Pro476=)	SPTLC2	Single nucleotide variant (synonymous variant)	SPTLC2-related condition +2 more	GBenign
Select item 507195	NM_004863.4(SPTLC2):c.1320A>G (p.Gln440=)	SPTLC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 245796	NM_004863.4(SPTLC2):c.1304G>T (p.Gly435Val)	SPTLC2 (G435V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509663	NM_004863.4(SPTLC2):c.1304-4C>G	SPTLC2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 670586	NM_004863.4(SPTLC2):c.1304-34G>T	SPTLC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1243179	NM_004863.4(SPTLC2):c.1304-139C>G	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221118	NM_004863.4(SPTLC2):c.1304-149A>G	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216034	NM_004863.4(SPTLC2):c.1304-151A>G	SPTLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233136	NM_004863.4(SPTLC2):c.1303+266A>G	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674402	NM_004863.4(SPTLC2):c.1303+233C>G	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670138	NM_004863.4(SPTLC2):c.1303+193A>G	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301304	NM_004863.4(SPTLC2):c.1303+51C>T	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 314670	NM_004863.4(SPTLC2):c.1239T>C (p.Pro413=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C +2 more	GBenign/Likely benign
Select item 380694	NM_004863.4(SPTLC2):c.1227G>A (p.Thr409=)	SPTLC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 373497	NM_004863.4(SPTLC2):c.1226C>T (p.Thr409Met)	SPTLC2 (T409M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 670570	NM_004863.4(SPTLC2):c.1177-49G>A	SPTLC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 673721	NM_004863.4(SPTLC2):c.1177-317G>A	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677319	NM_004863.4(SPTLC2):c.1176+98C>T	SPTLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285765	NM_004863.4(SPTLC2):c.1176+28A>G	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380693	NM_004863.4(SPTLC2):c.1176+7G>A	SPTLC2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1695449	NM_004863.4(SPTLC2):c.1144G>A (p.Gly382Ser)	SPTLC2 (G382S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508903	NM_004863.4(SPTLC2):c.1065A>T (p.Thr355=)	SPTLC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 507717	NM_004863.4(SPTLC2):c.1059C>T (p.Gly353=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C +3 more	GLikely benign
Select item 391073	NM_004863.4(SPTLC2):c.1057G>A (p.Gly353Ser)	SPTLC2 (G353S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516704	NM_004863.4(SPTLC2):c.1050C>T (p.Gly350=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C +2 more	GBenign/Likely benign
Select item 1708731	NM_004863.4(SPTLC2):c.1043G>A (p.Ser348Asn)	SPTLC2 (S348N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681515	NM_004863.4(SPTLC2):c.996C>T (p.Ala332=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GLikely benign
Select item 1213562	NM_004863.4(SPTLC2):c.970A>G (p.Ile324Val)	SPTLC2 (I324V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 381162	NM_004863.4(SPTLC2):c.963G>A (p.Glu321=)	SPTLC2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1196748	NM_004863.4(SPTLC2):c.957-44C>G	SPTLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241804	NM_004863.4(SPTLC2):c.957-90C>T	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674401	NM_004863.4(SPTLC2):c.957-132G>A	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295742	NM_004863.4(SPTLC2):c.957-148C>A	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220969	NM_004863.4(SPTLC2):c.957-245G>A	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667525	NM_004863.4(SPTLC2):c.956+308_956+312del	SPTLC2	Deletion (intron variant)	not provided	GBenign
Select item 1208255	NM_004863.4(SPTLC2):c.956+83A>G	SPTLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 388381	NM_004863.4(SPTLC2):c.956+10C>G	SPTLC2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 287675	NM_004863.4(SPTLC2):c.851-5T>C	SPTLC2	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 670569	NM_004863.4(SPTLC2):c.851-30G>C	SPTLC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1712202	NM_004863.4(SPTLC2):c.851-154C>T	SPTLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670137	NM_004863.4(SPTLC2):c.851-225T>C	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667524	NM_004863.4(SPTLC2):c.851-293G>A	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231722	NM_004863.4(SPTLC2):c.851-321C>T	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674632	NM_004863.4(SPTLC2):c.850+34G>A	SPTLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311055	NM_004863.4(SPTLC2):c.790G>A (p.Ala264Thr)	SPTLC2 (A264T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804306	NM_004863.4(SPTLC2):c.788A>G (p.His263Arg)	SPTLC2 (H263R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 314672	NM_004863.4(SPTLC2):c.786T>C (p.Asn262=)	SPTLC2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 245925	NM_004863.4(SPTLC2):c.768T>G (p.Ile256Met)	SPTLC2 (I256M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 314673	NM_004863.4(SPTLC2):c.763C>T (p.Leu255=)	SPTLC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 670136	NM_004863.4(SPTLC2):c.757-250G>A	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667523	NM_004863.4(SPTLC2):c.756+333C>T	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236239	NM_004863.4(SPTLC2):c.756+144dup	SPTLC2	Duplication (intron variant)	not provided	GBenign
Select item 1291242	NM_004863.4(SPTLC2):c.756+160_756+161del	SPTLC2	Deletion (intron variant)	not provided	GBenign
Select item 1275948	NM_004863.4(SPTLC2):c.756+161del	SPTLC2	Deletion (intron variant)	not provided	GBenign
Select item 1280626	NM_004863.4(SPTLC2):c.756+69G>C	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383448	NM_004863.4(SPTLC2):c.756+17T>G	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GLikely benign
Select item 1312195	NM_004863.4(SPTLC2):c.756+3A>G	SPTLC2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 314676	NM_004863.4(SPTLC2):c.723G>A (p.Thr241=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C +2 more	GBenign/Likely benign
Select item 314675	NM_004863.4(SPTLC2):c.723G>T (p.Thr241=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GBenign/Likely benign
Select item 450969	NM_004863.4(SPTLC2):c.649G>T (p.Glu217Ter)	SPTLC2 (E217*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 670568	NM_004863.4(SPTLC2):c.632-49del	SPTLC2	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1201631	NM_004863.4(SPTLC2):c.632-73_632-69del	SPTLC2	Deletion (intron variant)	not provided	GLikely benign
Select item 670567	NM_004863.4(SPTLC2):c.632-84T>C	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244195	NM_004863.4(SPTLC2):c.632-311C>G	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672218	NM_004863.4(SPTLC2):c.631+130del	SPTLC2	Deletion (intron variant)	not provided	GBenign
Select item 1197995	NM_004863.4(SPTLC2):c.628A>G (p.Ile210Val)	SPTLC2 (I210V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 379728	NM_004863.4(SPTLC2):c.619C>A (p.Arg207=)	SPTLC2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 380349	NM_004863.4(SPTLC2):c.612C>T (p.Cys204=)	SPTLC2	Single nucleotide variant (synonymous variant)	SPTLC2-related condition +2 more	GBenign/Likely benign
Select item 510670	NM_004863.4(SPTLC2):c.597T>C (p.Tyr199=)	SPTLC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 382638	NM_004863.4(SPTLC2):c.561A>G (p.Ser187=)	SPTLC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1810742	NM_004863.4(SPTLC2):c.550A>G (p.Asn184Asp)	SPTLC2 (N184D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972640	NM_004863.4(SPTLC2):c.533A>G (p.Tyr178Cys)	SPTLC2 (Y178C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 430350	NM_004863.4(SPTLC2):c.529A>G (p.Asn177Asp)	SPTLC2 (N177D)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GConflicting classifications of pathogenicity
Select item 246030	NM_004863.4(SPTLC2):c.508G>C (p.Val170Leu)	SPTLC2 (V170L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 314678	NM_004863.4(SPTLC2):c.506G>C (p.Gly169Ala)	SPTLC2 (G169A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 510794	NM_004863.4(SPTLC2):c.483-6G>T	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GLikely benign
Select item 1198442	NM_004863.4(SPTLC2):c.483-58T>C	SPTLC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265521	NM_004863.4(SPTLC2):c.482+248C>T	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670135	NM_004863.4(SPTLC2):c.482+223T>A	SPTLC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707885	NM_004863.4(SPTLC2):c.447G>A (p.Met149Ile)	SPTLC2 (M149I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452683	NM_004863.4(SPTLC2):c.445A>G (p.Met149Val)	SPTLC2 (M149V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 389940	NM_004863.4(SPTLC2):c.432C>T (p.Ala144=)	SPTLC2	Single nucleotide variant (synonymous variant)	SPTLC2-related condition +3 more	GLikely benign
Select item 538853	NM_004863.4(SPTLC2):c.415T>C (p.Cys139Arg)	SPTLC2 (C139R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1254808	NM_004863.4(SPTLC2):c.365A>G (p.Tyr122Cys)	SPTLC2 (Y122C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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