SPTLC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
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 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 662860	NC_000014.8:g.(?_77743699)_(78082942_?)dup	ISM2, AHSA1 +25 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314570	NM_004863.4(SPTLC2):c.*6253T>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 888004	NM_004863.4(SPTLC2):c.*6169G>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314571	NM_004863.4(SPTLC2):c.*6080C>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GBenign
Select item 884868	NM_004863.4(SPTLC2):c.*6068C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314572	NM_004863.4(SPTLC2):c.*6018A>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314573	NM_004863.4(SPTLC2):c.*5989dup	SPTLC2	Duplication (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 314574	NM_004863.4(SPTLC2):c.*5915T>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 884869	NM_004863.4(SPTLC2):c.*5892C>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 884870	NM_004863.4(SPTLC2):c.*5852A>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 884871	NM_004863.4(SPTLC2):c.*5799C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314575	NM_004863.4(SPTLC2):c.*5531A>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GBenign
Select item 885796	NM_004863.4(SPTLC2):c.*5510C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314576	NM_004863.4(SPTLC2):c.*5395C>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314577	NM_004863.4(SPTLC2):c.*5358T>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314578	NM_004863.4(SPTLC2):c.*5357A>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GConflicting classifications of pathogenicity
Select item 885797	NM_004863.4(SPTLC2):c.*5303A>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 885798	NM_004863.4(SPTLC2):c.*5032T>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314579	NM_004863.4(SPTLC2):c.*5008G>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 885799	NM_004863.4(SPTLC2):c.*4950A>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314580	NM_004863.4(SPTLC2):c.*4948A>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314581	NM_004863.4(SPTLC2):c.*4914C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 886802	NM_004863.4(SPTLC2):c.*4842A>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314582	NM_004863.4(SPTLC2):c.*4825C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314583	NM_004863.4(SPTLC2):c.*4755C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 886803	NM_004863.4(SPTLC2):c.*4682C>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314584	NM_004863.4(SPTLC2):c.4673_4674insTG	SPTLC2	Insertion (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314585	NM_004863.4(SPTLC2):c.*4645A>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 314586	NM_004863.4(SPTLC2):c.*4503A>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314587	NM_004863.4(SPTLC2):c.*4493dup	SPTLC2	Duplication (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314588	NM_004863.4(SPTLC2):c.*4478C>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314589	NM_004863.4(SPTLC2):c.*4446G>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GBenign
Select item 314590	NM_004863.4(SPTLC2):c.*4431G>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314591	NM_004863.4(SPTLC2):c.*4402G>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 888084	NM_004863.4(SPTLC2):c.*4276G>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314592	NM_004863.4(SPTLC2):c.*4198C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314593	NM_004863.4(SPTLC2):c.*4131G>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314594	NM_004863.4(SPTLC2):c.*4115G>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 884946	NM_004863.4(SPTLC2):c.*4108G>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 884947	NM_004863.4(SPTLC2):c.*4107C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314595	NM_004863.4(SPTLC2):c.*4089del	SPTLC2	Deletion (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 884948	NM_004863.4(SPTLC2):c.*4052G>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314596	NM_004863.4(SPTLC2):c.*4039T>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314597	NM_004863.4(SPTLC2):c.*4037G>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 884949	NM_004863.4(SPTLC2):c.*4030T>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314598	NM_004863.4(SPTLC2):c.*3931G>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 314599	NM_004863.4(SPTLC2):c.*3876GTT[2]	SPTLC2	Microsatellite (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 885862	NM_004863.4(SPTLC2):c.*3819C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314600	NM_004863.4(SPTLC2):c.*3813G>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314601	NM_004863.4(SPTLC2):c.*3812C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 885863	NM_004863.4(SPTLC2):c.*3809T>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 885864	NM_004863.4(SPTLC2):c.*3785G>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314602	NM_004863.4(SPTLC2):c.*3668G>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 885865	NM_004863.4(SPTLC2):c.*3666T>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314603	NM_004863.4(SPTLC2):c.*3637G>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 314604	NM_004863.4(SPTLC2):c.*3612T>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GBenign
Select item 314605	NM_004863.4(SPTLC2):c.*3526A>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314606	NM_004863.4(SPTLC2):c.*3524A>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GBenign
Select item 314607	NM_004863.4(SPTLC2):c.*3457T>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314608	NM_004863.4(SPTLC2):c.*3454C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314609	NM_004863.4(SPTLC2):c.*3396A>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 888133	NM_004863.4(SPTLC2):c.*3380A>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 888134	NM_004863.4(SPTLC2):c.*3348G>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314610	NM_004863.4(SPTLC2):c.*3315C>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 888135	NM_004863.4(SPTLC2):c.*3286C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314611	NM_004863.4(SPTLC2):c.*3274C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 888136	NM_004863.4(SPTLC2):c.*3261C>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314612	NM_004863.4(SPTLC2):c.*3224C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 885011	NM_004863.4(SPTLC2):c.*3084A>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314613	NM_004863.4(SPTLC2):c.*3034C>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314614	NM_004863.4(SPTLC2):c.*2981del	SPTLC2	Deletion (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314615	NM_004863.4(SPTLC2):c.*2966G>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 885012	NM_004863.4(SPTLC2):c.*2962C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314616	NM_004863.4(SPTLC2):c.*2960C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314617	NM_004863.4(SPTLC2):c.2936_2938dup	SPTLC2	Duplication (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GLikely benign
Select item 314618	NM_004863.4(SPTLC2):c.2910_2912del	SPTLC2	Deletion (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 885013	NM_004863.4(SPTLC2):c.*2847T>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 885014	NM_004863.4(SPTLC2):c.*2807C>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314619	NM_004863.4(SPTLC2):c.*2794C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 885926	NM_004863.4(SPTLC2):c.*2777G>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314620	NM_004863.4(SPTLC2):c.*2749A>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314621	NM_004863.4(SPTLC2):c.*2716CT[1]	SPTLC2	Microsatellite (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314622	NM_004863.4(SPTLC2):c.*2702G>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 314623	NM_004863.4(SPTLC2):c.*2699C>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C +1 more	GBenign
Select item 885927	NM_004863.4(SPTLC2):c.*2672A>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314624	NM_004863.4(SPTLC2):c.*2645C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314625	NM_004863.4(SPTLC2):c.*2622A>C	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 885928	NM_004863.4(SPTLC2):c.*2375C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314626	NM_004863.4(SPTLC2):c.*2338G>A	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GBenign
Select item 314627	NM_004863.4(SPTLC2):c.*2314C>T	SPTLC2	Single nucleotide variant (3 prime UTR variant)	Neuropathy, hereditary sensory and autonomic, type 1C	GUncertain significance
Select item 314628	NM_004863.4(SPTLC2):c.*2302A>G	SPTLC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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