CTSH[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
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 3078779	NM_004390.5(CTSH):c.778A>G (p.Met260Val)	CTSH, LOC130057705 (M222V +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
Select item 2684763	GRCh37/hg19 15q25.1(chr15:78939575-79274138)x3	ADAMTS7, CTSH +2 more	Copy number gain	not provided	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2425995	NC_000015.9:g.(?_78857986)_(81282132_?)dup	CHRNB4, CTSH +19 more	Duplication	not provided	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 52