ClinVar for Gene (Select 9517) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335985	NC_000014.8:g.(78028833_78036726)_(78036852_78043109)del	SPTLC2	Deletion	not specified	GUncertain significance
Select item 3322530	NM_004863.4(SPTLC2):c.1237C>T (p.Pro413Ser)	SPTLC2 (P413S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322529	NM_004863.4(SPTLC2):c.157G>A (p.Gly53Arg)	SPTLC2 (G53R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	GUncertain significance
Select item 3244014	NC_000014.8:g.(?_78028719)_(78028852_?)del	SPTLC2	Deletion	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 3169743	NM_004863.4(SPTLC2):c.31C>G (p.Arg11Gly)	SPTLC2 (R11G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3023139	NM_004863.4(SPTLC2):c.1274G>A (p.Cys425Tyr)	SPTLC2 (C425Y)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 3018900	NM_004863.4(SPTLC2):c.631+19T>G	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 3016376	NM_004863.4(SPTLC2):c.124G>A (p.Ala42Thr)	SPTLC2 (A42T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 3013155	NM_004863.4(SPTLC2):c.21C>T (p.Gly7=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2991669	NM_004863.4(SPTLC2):c.1423A>G (p.Met475Val)	SPTLC2 (M475V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2986747	NM_004863.4(SPTLC2):c.483-14C>T	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2983098	NM_004863.4(SPTLC2):c.630T>C (p.Ile210=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2978798	NM_004863.4(SPTLC2):c.327G>A (p.Lys109=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2975876	NM_004863.4(SPTLC2):c.318A>G (p.Glu106=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2910491	NM_004863.4(SPTLC2):c.1627C>T (p.Arg543Trp)	SPTLC2 (R543W)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2904956	NM_004863.4(SPTLC2):c.730A>G (p.Met244Val)	SPTLC2 (M244V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2903489	NM_004863.4(SPTLC2):c.1069C>T (p.Arg357Trp)	SPTLC2 (R357W)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2903343	NM_004863.4(SPTLC2):c.278A>G (p.Tyr93Cys)	SPTLC2 (Y93C)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2894427	NM_004863.4(SPTLC2):c.483-18T>C	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2883000	NM_004863.4(SPTLC2):c.252T>C (p.Phe84=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2880769	NM_004863.4(SPTLC2):c.1067G>C (p.Gly356Ala)	SPTLC2 (G356A)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2878481	NM_004863.4(SPTLC2):c.1176+14G>A	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2853407	NM_004863.4(SPTLC2):c.154G>A (p.Gly52Arg)	SPTLC2 (G52R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2850650	NM_004863.4(SPTLC2):c.1176+9G>C	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2842097	NM_004863.4(SPTLC2):c.483-19T>G	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2839727	NM_004863.4(SPTLC2):c.1304-5dup	SPTLC2	Duplication (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2839632	NM_004863.4(SPTLC2):c.202A>T (p.Met68Leu)	SPTLC2 (M68L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2829404	NM_004863.4(SPTLC2):c.50A>G (p.Asn17Ser)	SPTLC2 (N17S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2813732	NM_004863.4(SPTLC2):c.1534C>T (p.Leu512=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2809300	NM_004863.4(SPTLC2):c.219C>T (p.Leu73=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2807487	NM_004863.4(SPTLC2):c.30C>T (p.Cys10=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2802406	NM_004863.4(SPTLC2):c.73G>T (p.Val25Leu)	SPTLC2 (V25L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2790394	NM_004863.4(SPTLC2):c.632-11T>G	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2773116	NM_004863.4(SPTLC2):c.222_223delinsTA (p.Tyr75Asn)	SPTLC2 (Y75N)	Indel (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2772055	NM_004863.4(SPTLC2):c.1411T>G (p.Leu471Val)	SPTLC2 (L471V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2771645	NM_004863.4(SPTLC2):c.909A>C (p.Thr303=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2763372	NM_004863.4(SPTLC2):c.196_204dup (p.Met68_Leu69insThrProMet)	SPTLC2	Duplication (inframe_insertion)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2760393	NM_004863.4(SPTLC2):c.1101C>G (p.Pro367=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2758383	NM_004863.4(SPTLC2):c.1448G>T (p.Gly483Val)	SPTLC2 (G483V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2748216	NM_004863.4(SPTLC2):c.483-7T>C	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2746037	NM_004863.4(SPTLC2):c.440A>G (p.Asp147Gly)	SPTLC2 (D147G)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2740911	NM_004863.4(SPTLC2):c.1570-19T>G	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2740792	NM_004863.4(SPTLC2):c.1341G>A (p.Arg447=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2740592	NM_004863.4(SPTLC2):c.1440C>T (p.Gly480=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2739344	NM_004863.4(SPTLC2):c.461A>C (p.His154Pro)	SPTLC2 (H154P)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2736856	NM_004863.4(SPTLC2):c.131A>G (p.Gln44Arg)	SPTLC2 (Q44R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2736132	NM_004863.4(SPTLC2):c.435G>T (p.Arg145Ser)	SPTLC2 (R145S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2733639	NM_004863.4(SPTLC2):c.823G>A (p.Ala275Thr)	SPTLC2 (A275T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2727491	NM_004863.4(SPTLC2):c.280T>C (p.Trp94Arg)	SPTLC2 (W94R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2727319	NM_004863.4(SPTLC2):c.423G>T (p.Val141=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2727300	NM_004863.4(SPTLC2):c.562T>C (p.Cys188Arg)	SPTLC2 (C188R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2716033	NM_004863.4(SPTLC2):c.328-13C>T	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2714342	NM_004863.4(SPTLC2):c.14C>T (p.Pro5Leu)	SPTLC2 (P5L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2714079	NM_004863.4(SPTLC2):c.260T>A (p.Leu87His)	SPTLC2 (L87H)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2712089	NM_004863.4(SPTLC2):c.1176+20G>A	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2707786	NM_004863.4(SPTLC2):c.1201C>A (p.His401Asn)	SPTLC2 (H401N)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2704445	NM_004863.4(SPTLC2):c.473G>A (p.Trp158Ter)	SPTLC2 (W158*)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2696027	NM_004863.4(SPTLC2):c.1304-1G>C	SPTLC2	Single nucleotide variant (splice acceptor variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2693881	NM_004863.4(SPTLC2):c.1362A>G (p.Lys454=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2691427	NM_004863.4(SPTLC2):c.1544C>T (p.Ala515Val)	SPTLC2 (A515V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684738	GRCh37/hg19 14q24.3-31.1(chr14:78078206-79605613)x3	ADCK1, ALKBH1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684737	GRCh37/hg19 14q24.3(chr14:77885734-78292290)x3	ADCK1, AHSA1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2527575	NM_004863.4(SPTLC2):c.454C>G (p.Gln152Glu)	SPTLC2 (Q152E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426709	NC_000014.8:g.(?_77893959)_(78082922_?)del	AHSA1, ISM2 +2 more	Deletion	not provided	GPathogenic
Select item 2416788	NM_004863.4(SPTLC2):c.1620C>G (p.Ser540=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2392947	NM_004863.4(SPTLC2):c.678C>G (p.Phe226Leu)	SPTLC2 (F226L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245045	NM_004863.4(SPTLC2):c.62C>G (p.Ala21Gly)	SPTLC2 (A21G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199360	NM_004863.4(SPTLC2):c.851-18C>G	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2187553	NM_004863.4(SPTLC2):c.1304-7T>G	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2187520	NM_004863.4(SPTLC2):c.609G>A (p.Val203=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2175890	NM_004863.4(SPTLC2):c.180T>C (p.Asn60=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2174899	NM_004863.4(SPTLC2):c.482A>G (p.Lys161Arg)	SPTLC2 (K161R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2174511	NM_004863.4(SPTLC2):c.10G>C (p.Glu4Gln)	SPTLC2 (E4Q)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2158169	NM_004863.4(SPTLC2):c.1106A>G (p.Asp369Gly)	SPTLC2 (D369G)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2156354	NM_004863.4(SPTLC2):c.933C>T (p.Leu311=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2148911	NM_004863.4(SPTLC2):c.483-11T>C	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2148866	NM_004863.4(SPTLC2):c.1579G>A (p.Glu527Lys)	SPTLC2 (E527K)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2147166	NM_004863.4(SPTLC2):c.577G>A (p.Ala193Thr)	SPTLC2 (A193T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2146832	NM_004863.4(SPTLC2):c.1440-10C>T	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2126859	NM_004863.4(SPTLC2):c.1319A>G (p.Gln440Arg)	SPTLC2 (Q440R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2107576	NM_004863.4(SPTLC2):c.661G>C (p.Glu221Gln)	SPTLC2 (E221Q)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2107535	NM_004863.4(SPTLC2):c.1015G>A (p.Ala339Thr)	SPTLC2 (A339T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2106285	NM_004863.4(SPTLC2):c.851-6C>A	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2103184	NM_004863.4(SPTLC2):c.876G>A (p.Leu292=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2097211	NM_004863.4(SPTLC2):c.631+4A>C	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2084487	NM_004863.4(SPTLC2):c.1530T>C (p.Phe510=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 2080817	NM_004863.4(SPTLC2):c.1541C>T (p.Ala514Val)	SPTLC2 (A514V)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2074954	NM_004863.4(SPTLC2):c.992T>C (p.Ile331Thr)	SPTLC2 (I331T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2063605	NM_004863.4(SPTLC2):c.404A>G (p.Asn135Ser)	SPTLC2 (N135S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2060216	NM_004863.4(SPTLC2):c.31CGC[3] (p.Arg12_Thr13insArg)	SPTLC2	Microsatellite (inframe_insertion)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2058736	NM_004863.4(SPTLC2):c.1450del (p.Arg484fs)	SPTLC2 (R484fs)	Deletion (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2056738	NM_004863.4(SPTLC2):c.1203T>C (p.His401=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 2046133	NM_004863.4(SPTLC2):c.93G>C (p.Arg31Ser)	SPTLC2 (R31S)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2040918	NM_004863.4(SPTLC2):c.1637C>T (p.Pro546Leu)	SPTLC2 (P546L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2040664	NM_004863.4(SPTLC2):c.722C>T (p.Thr241Met)	SPTLC2 (T241M)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2036785	NM_004863.4(SPTLC2):c.956+5T>C	SPTLC2	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 2001331	NM_004863.4(SPTLC2):c.525C>T (p.Ser175=)	SPTLC2	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 1998963	NM_004863.4(SPTLC2):c.1297A>G (p.Ser433Gly)	SPTLC2 (S433G)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance

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