CTSH[gene] and "single gene"[properties] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041827	NM_004390.5(CTSH):c.949C>T (p.Arg317Cys)	CTSH (R183C +2 more)	Single nucleotide variant (missense variant)	CTSH-related disorder	GLikely benign
Select item 3078781	NM_004390.5(CTSH):c.946G>A (p.Glu316Lys)	CTSH (E316K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078780	NM_004390.5(CTSH):c.929A>T (p.Asn310Ile)	CTSH (N272I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365802	NM_004390.5(CTSH):c.900A>C (p.Lys300Asn)	CTSH (K262N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270223	NM_004390.5(CTSH):c.863A>G (p.Tyr288Cys)	CTSH (Y154C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270226	NM_004390.5(CTSH):c.791C>G (p.Thr264Ser)	CTSH (T226S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268508	NM_004390.5(CTSH):c.785A>G (p.Tyr262Cys)	CTSH (Y224C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758792	NM_004390.5(CTSH):c.699+1G>A	CTSH	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 2601354	NM_004390.5(CTSH):c.641G>T (p.Cys214Phe)	CTSH (C176F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270225	NM_004390.5(CTSH):c.607G>C (p.Asp203His)	CTSH (D165H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406934	NM_004390.5(CTSH):c.508G>A (p.Val170Met)	CTSH (V132M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761696	NM_004390.5(CTSH):c.493-6_493-4del	CTSH (F29del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 65462	NM_004390.5(CTSH):c.485_488del (p.Leu162fs)	CTSH (L162fs)	Deletion (5 prime UTR variant +1 more)	Variant of unknown significance	GUncertain significance
Select item 2515040	NM_004390.5(CTSH):c.475G>A (p.Gly159Arg)	CTSH (G121R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2514270	NM_004390.5(CTSH):c.463G>A (p.Ala155Thr)	CTSH (A155T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2270773	NM_004390.5(CTSH):c.308C>T (p.Ser103Leu)	CTSH (S103L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2341870	NM_004390.5(CTSH):c.296C>T (p.Pro99Leu)	CTSH (P61L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2410092	NM_004390.5(CTSH):c.250G>C (p.Asp84His)	CTSH (D46H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 736888	NM_004390.5(CTSH):c.210T>C (p.Asn70=)	CTSH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2378949	NM_004390.5(CTSH):c.209A>G (p.Asn70Ser)	CTSH (N32S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3078777	NM_004390.5(CTSH):c.206A>G (p.Asn69Ser)	CTSH (N31S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3051073	NM_004390.5(CTSH):c.198C>T (p.Asn66=)	CTSH	Single nucleotide variant (5 prime UTR variant +1 more)	CTSH-related disorder	GLikely benign
Select item 794489	NM_004390.5(CTSH):c.189G>A (p.Arg63=)	CTSH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 785503	NM_004390.5(CTSH):c.144G>A (p.Thr48=)	CTSH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 776937	NM_004390.5(CTSH):c.67G>A (p.Ala23Thr)	CTSH (A23T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 800038	NM_004390.5(CTSH):c.63T>G (p.Gly21=)	CTSH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 715242	NM_004390.5(CTSH):c.33G>A (p.Gly11=)	CTSH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3270222	NM_004390.5(CTSH):c.32G>T (p.Gly11Val)	CTSH (G11V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2270771	NM_004390.5(CTSH):c.29C>T (p.Ala10Val)	CTSH (A10V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2279486	NM_004390.5(CTSH):c.20T>C (p.Leu7Pro)	CTSH (L7P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3270224	NM_004390.5(CTSH):c.11C>G (p.Thr4Arg)	CTSH (T4R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 31