SPTLC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 367538	NM_006415.4(SPTLC1):c.*445A>G	SPTLC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 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 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 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 2699399	NM_006415.4(SPTLC1):c.1422G>C (p.Ter474Tyr)	SPTLC1 (G464R)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 855200	NM_006415.4(SPTLC1):c.1422G>A (p.Ter474=)	SPTLC1 (G464S)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 287303	NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)	SPTLC1 (V471I +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1 +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 1972389	NM_006415.4(SPTLC1):c.1403C>T (p.Ala468Val)	SPTLC1 (A346V +2 more)	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 1	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 2988866	NM_006415.4(SPTLC1):c.1394A>G (p.Lys465Arg)	SPTLC1 (K343R +2 more)	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
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 2729350	NM_006415.4(SPTLC1):c.1390A>G (p.Ile464Val)	SPTLC1 (I309V +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 582614	NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr)	SPTLC1 (S462Y +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GUncertain significance
Select item 2726727	NM_006415.4(SPTLC1):c.1356_1359del (p.Thr453fs)	SPTLC1 (T331fs +2 more)	Microsatellite (frameshift variant +1 more)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 1581873	NM_006415.4(SPTLC1):c.1353A>G (p.Glu451=)	SPTLC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
Select item 1906936	NM_006415.4(SPTLC1):c.1348G>A (p.Val450Met)	SPTLC1 (V328M +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 707093	NM_006415.4(SPTLC1):c.1347G>A (p.Thr449=)	SPTLC1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1027568	NM_006415.4(SPTLC1):c.1346C>T (p.Thr449Met)	SPTLC1 (T294M +2 more)	Single nucleotide variant (missense variant +1 more)	Childhood onset hearing loss +2 more	GUncertain significance
Select item 1770304	NM_006415.4(SPTLC1):c.1339G>A (p.Val447Met)	SPTLC1 (V292M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1605666	NM_006415.4(SPTLC1):c.1338T>C (p.Val446=)	SPTLC1	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
Select item 2428219	NM_006415.4(SPTLC1):c.1333C>T (p.Arg445Trp)	SPTLC1 (R290W +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
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 1110911	NM_006415.4(SPTLC1):c.1329-4T>C	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
Select item 952078	NM_006415.4(SPTLC1):c.1329-8G>A	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1	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 3342216	NM_006415.4(SPTLC1):c.1328+917G>A	SPTLC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2659302	NM_006415.4(SPTLC1):c.1328+798C>T	SPTLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1559434	NM_006415.4(SPTLC1):c.1328+10C>T	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
Select item 1132841	NM_006415.4(SPTLC1):c.1328+8G>C	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
Select item 581855	NM_006415.4(SPTLC1):c.1328G>C (p.Ser443Thr)	SPTLC1 (S443T +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 2802919	NM_006415.4(SPTLC1):c.1322C>T (p.Pro441Leu)	SPTLC1 (P286L +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 2746495	NM_006415.4(SPTLC1):c.1319C>T (p.Pro440Leu)	SPTLC1 (P285L +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 2532254	NM_006415.4(SPTLC1):c.1315C>T (p.Leu439Phe)	SPTLC1 (L317F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2701851	NM_006415.4(SPTLC1):c.1312T>C (p.Cys438Arg)	SPTLC1 (C438R +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GUncertain significance
Select item 1146911	NM_006415.4(SPTLC1):c.1311G>A (p.Lys437=)	SPTLC1	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
Select item 917297	NM_006415.4(SPTLC1):c.1302AGA[1] (p.Glu436del)	SPTLC1 (E314del +2 more)	Microsatellite (inframe_deletion)	Hereditary sensory and autonomic neuropathy type 1 +2 more	GUncertain significance
Select item 2701260	NM_006415.4(SPTLC1):c.1301A>C (p.Lys434Thr)	SPTLC1 (K434T +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 1769248	NM_006415.4(SPTLC1):c.1297G>T (p.Glu433Ter)	SPTLC1 (E433* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
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 1146855	NM_006415.4(SPTLC1):c.1287G>A (p.Ala429=)	SPTLC1	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
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 1134230	NM_006415.4(SPTLC1):c.1284G>A (p.Gln428=)	SPTLC1	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
Select item 1008500	NM_006415.4(SPTLC1):c.1259T>G (p.Met420Arg)	SPTLC1 (M265R +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 917295	NM_006415.4(SPTLC1):c.1259T>C (p.Met420Thr)	SPTLC1 (M265T +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 1762279	NM_006415.4(SPTLC1):c.1258A>G (p.Met420Val)	SPTLC1 (M298V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2730775	NM_006415.4(SPTLC1):c.1255T>C (p.Cys419Arg)	SPTLC1 (C297R +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 1346565	NM_006415.4(SPTLC1):c.1255-3C>T	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 757733	NM_006415.4(SPTLC1):c.1255-4A>G	SPTLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911489	NM_006415.4(SPTLC1):c.1255-6C>T	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely 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 2771054	NM_006415.4(SPTLC1):c.1255-11T>C	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
Select item 2982702	NM_006415.4(SPTLC1):c.1255-12T>G	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
Select item 1564265	NM_006415.4(SPTLC1):c.1255-17T>C	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
Select item 1651458	NM_006415.4(SPTLC1):c.1254+15_1254+18del	SPTLC1	Deletion (intron variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
Select item 2198996	NM_006415.4(SPTLC1):c.1254+11G>A	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
Select item 3009369	NM_006415.4(SPTLC1):c.1254+10C>G	SPTLC1	Single nucleotide variant (intron variant)	Hereditary sensory and autonomic neuropathy type 1	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 917301	NM_006415.4(SPTLC1):c.1254+8del	SPTLC1	Deletion (intron variant)	Hereditary sensory and autonomic neuropathy type 1 +1 more	GLikely benign
Select item 1761333	NM_006415.4(SPTLC1):c.1254+5G>A	SPTLC1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1611399	NM_006415.4(SPTLC1):c.1230A>G (p.Arg410=)	SPTLC1	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
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 3339336	NM_006415.4(SPTLC1):c.1225G>A (p.Val409Ile)	SPTLC1 (V254I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 963274	NM_006415.4(SPTLC1):c.1219C>T (p.Gln407Ter)	SPTLC1 (Q285* +2 more)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 2856769	NM_006415.4(SPTLC1):c.1218G>A (p.Glu406=)	SPTLC1	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
Select item 1016208	NM_006415.4(SPTLC1):c.1216G>A (p.Glu406Lys)	SPTLC1 (E251K +2 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 1	GUncertain significance
Select item 1480983	NM_006415.4(SPTLC1):c.1215C>T (p.Arg405=)	SPTLC1	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 1	GLikely benign
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

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