ClinVar for Gene (Select 8877) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3448459	NM_001142601.2(SPHK1):c.-105C>G	SPHK1 (R52G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3448458	NM_001142601.2(SPHK1):c.-95G>T	SPHK1 (S55I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3448457	NM_001142601.2(SPHK1):c.433C>T (p.Arg145Trp)	SPHK1 (R231W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448456	NM_001142601.2(SPHK1):c.-147C>G	SPHK1 (P38A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3448455	NM_001142601.2(SPHK1):c.149C>T (p.Thr50Met)	SPHK1 (T64M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448454	NM_001142601.2(SPHK1):c.431G>A (p.Arg144His)	SPHK1 (R144H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322185	NM_001142601.2(SPHK1):c.296C>G (p.Thr99Ser)	SPHK1 (T185S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322184	NM_001142601.2(SPHK1):c.994A>G (p.Lys332Glu)	SPHK1 (K346E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322183	NM_001142601.2(SPHK1):c.1095C>G (p.Cys365Trp)	SPHK1 (C379W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322182	NM_001142601.2(SPHK1):c.918G>A (p.Met306Ile)	SPHK1 (M306I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169018	NM_001142601.2(SPHK1):c.-164C>T	SPHK1 (A32V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169017	NM_001142601.2(SPHK1):c.626G>C (p.Arg209Pro)	SPHK1 (R209P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169016	NM_001142601.2(SPHK1):c.311C>T (p.Pro104Leu)	SPHK1 (P104L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169015	NM_001142601.2(SPHK1):c.-194-291G>A	SPHK1 (A19T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169014	NM_001142601.2(SPHK1):c.-114T>G	SPHK1 (C49G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169013	NM_001142601.2(SPHK1):c.1096G>A (p.Val366Met)	SPHK1 (V366M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169012	NM_001142601.2(SPHK1):c.958G>A (p.Val320Ile)	SPHK1 (V320I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169011	NM_001142601.2(SPHK1):c.886C>T (p.Arg296Cys)	SPHK1 (R382C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609833	NM_001142601.2(SPHK1):c.679G>A (p.Val227Ile)	SPHK1 (V227I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539701	NM_001142601.2(SPHK1):c.379G>A (p.Glu127Lys)	SPHK1 (E141K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527819	NM_001142601.2(SPHK1):c.169C>G (p.Arg57Gly)	SPHK1 (R143G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519154	NM_001142601.2(SPHK1):c.622G>A (p.Gly208Ser)	SPHK1 (G208S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511867	NM_001142601.2(SPHK1):c.484C>A (p.Arg162Ser)	SPHK1 (R176S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410704	NM_001142601.2(SPHK1):c.466C>T (p.His156Tyr)	SPHK1 (H170Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410043	NM_001142601.2(SPHK1):c.553C>T (p.Arg185Trp)	SPHK1 (R199W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356726	NM_001142601.2(SPHK1):c.34C>T (p.Pro12Ser)	SPHK1 (P12S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350999	NM_001142601.2(SPHK1):c.143C>T (p.Ser48Phe)	SPHK1 (S134F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323848	NM_001142601.2(SPHK1):c.310C>G (p.Pro104Ala)	SPHK1 (P190A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322527	NM_001142601.2(SPHK1):c.589T>C (p.Phe197Leu)	SPHK1 (F283L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301390	NM_001142601.2(SPHK1):c.712C>T (p.Leu238Phe)	SPHK1 (L252F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217813	NM_001142601.2(SPHK1):c.1132C>T (p.Pro378Ser)	SPHK1 (P378S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	CANT1, FAAP100 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 789901	NM_001142601.2(SPHK1):c.597T>C (p.Arg199=)	SPHK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789900	NM_001142601.2(SPHK1):c.596del (p.Arg199fs)	SPHK1 (R199fs +2 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 785584	NM_001142601.2(SPHK1):c.468C>T (p.His156=)	SPHK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784746	NM_001142601.2(SPHK1):c.12G>C (p.Ala4=)	SPHK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778749	NM_001142601.2(SPHK1):c.1136C>T (p.Pro379Leu)	SPHK1 (P379L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 731910	NM_001142601.2(SPHK1):c.-164C>A	SPHK1 (A32D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687943	GRCh37/hg19 17q25.1(chr17:74286105-74413899)x3	PRPSAP1, QRICH2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 51