CPZ[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 148843	GRCh38/hg38 4p16.1(chr4:8414872-10011846)x3	ACOX3, CPZ +54 more	Copy number gain	See cases	GLikely benign
Select item 3037364	NM_001014447.3(CPZ):c.-10C>T	CPZ	Single nucleotide variant (5 prime UTR variant)	CPZ-related disorder	GLikely benign
Select item 2267673	NM_001014447.3(CPZ):c.11C>A (p.Pro4Gln)	CPZ (P4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056417	NM_001014447.3(CPZ):c.12G>C (p.Pro4=)	CPZ	Single nucleotide variant (synonymous variant +1 more)	CPZ-related disorder	GBenign
Select item 3059669	NM_001014447.3(CPZ):c.17C>T (p.Pro6Leu)	CPZ (P6L)	Single nucleotide variant (missense variant +1 more)	CPZ-related disorder	GBenign
Select item 3269331	NM_001014447.3(CPZ):c.22C>A (p.Leu8Met)	CPZ (L8M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654658	NM_001014447.3(CPZ):c.36C>T (p.Val12=)	CPZ	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2466099	NM_001014447.3(CPZ):c.43G>A (p.Val15Ile)	CPZ (V15I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056352	NM_001014447.3(CPZ):c.56G>C (p.Arg19Pro)	CPZ (R19P)	Single nucleotide variant (missense variant +1 more)	CPZ-related disorder	GBenign
Select item 3077017	NM_001014447.3(CPZ):c.68A>G (p.Glu23Gly)	CPZ (E23G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269333	NM_001014447.3(CPZ):c.81C>A (p.Asn27Lys)	CPZ (N27K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077026	NM_001014447.3(CPZ):c.97C>T (p.His33Tyr)	CPZ (H33Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356847	NM_001014447.3(CPZ):c.107C>T (p.Pro36Leu)	CPZ (P36L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379875	NM_001014447.3(CPZ):c.172C>A (p.His58Asn)	CPZ (H58N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487282	NM_001014447.3(CPZ):c.183C>A (p.Phe61Leu)	CPZ (F50L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405723	NM_001014447.3(CPZ):c.202C>T (p.Arg68Trp)	CPZ (R68W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269334	NM_001014447.3(CPZ):c.203G>A (p.Arg68Gln)	CPZ (R57Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077008	NM_001014447.3(CPZ):c.206C>T (p.Ser69Leu)	CPZ (S58L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044860	NM_001014447.3(CPZ):c.231C>T (p.Ser77=)	CPZ	Single nucleotide variant (synonymous variant +1 more)	CPZ-related disorder	GBenign
Select item 3269336	NM_001014447.3(CPZ):c.259C>A (p.Gln87Lys)	CPZ (Q87K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491919	NM_001014447.3(CPZ):c.288C>G (p.Asp96Glu)	CPZ (D96E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407301	NM_001014447.3(CPZ):c.317C>T (p.Ala106Val)	CPZ (A106V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077010	NM_001014447.3(CPZ):c.344G>A (p.Arg115His)	CPZ (R104H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3077011	NM_001014447.3(CPZ):c.349C>A (p.Pro117Thr)	CPZ (P117T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045123	NM_001014447.3(CPZ):c.366C>T (p.Cys122=)	CPZ	Single nucleotide variant (synonymous variant +1 more)	CPZ-related disorder	GLikely benign
Select item 3043372	NM_001014447.3(CPZ):c.377G>A (p.Arg126Gln)	CPZ (R115Q +1 more)	Single nucleotide variant (missense variant +1 more)	CPZ-related disorder	GBenign
Select item 3077012	NM_001014447.3(CPZ):c.379G>A (p.Glu127Lys)	CPZ (E116K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056986	NM_001014447.3(CPZ):c.389A>T (p.Gln130Leu)	CPZ (Q119L +1 more)	Single nucleotide variant (missense variant +1 more)	CPZ-related disorder	GBenign
Select item 2611270	NM_001014447.3(CPZ):c.412A>G (p.Met138Val)	CPZ (M138V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077013	NM_001014447.3(CPZ):c.427T>C (p.Phe143Leu)	CPZ (F6L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034032	NM_001014447.3(CPZ):c.462C>T (p.Asp154=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 3269339	NM_001014447.3(CPZ):c.477C>G (p.Asp159Glu)	CPZ (D22E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599479	NM_001014447.3(CPZ):c.493C>T (p.Arg165Trp)	CPZ (R154W +2 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 3052227	NM_001014447.3(CPZ):c.497-5C>G	CPZ	Single nucleotide variant (intron variant)	CPZ-related disorder	GLikely benign
Select item 3077014	NM_001014447.3(CPZ):c.514G>A (p.Glu172Lys)	CPZ (E172K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356848	NM_001014447.3(CPZ):c.551G>A (p.Arg184His)	CPZ (R173H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400009	NM_001014447.3(CPZ):c.571G>A (p.Ala191Thr)	CPZ (A180T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309131	NM_001014447.3(CPZ):c.580G>A (p.Val194Met)	CPZ (V183M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269332	NM_001014447.3(CPZ):c.584G>C (p.Arg195Pro)	CPZ (R184P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077015	NM_001014447.3(CPZ):c.584G>A (p.Arg195His)	CPZ (R58H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059828	NM_001014447.3(CPZ):c.612C>T (p.Cys204=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 3051487	NM_001014447.3(CPZ):c.613G>A (p.Ala205Thr)	CPZ (A194T +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GUncertain significance
Select item 3077016	NM_001014447.3(CPZ):c.618C>G (p.His206Gln)	CPZ (H69Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039414	NM_001014447.3(CPZ):c.639C>T (p.Ile213=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 2601427	NM_001014447.3(CPZ):c.643C>T (p.Arg215Cys)	CPZ (R204C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254849	NM_001014447.3(CPZ):c.652G>A (p.Asp218Asn)	CPZ (D207N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055879	NM_001014447.3(CPZ):c.654C>T (p.Asp218=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 3038015	NM_001014447.3(CPZ):c.654C>A (p.Asp218Glu)	CPZ (D207E +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GBenign
Select item 775947	NM_001014447.3(CPZ):c.675C>G (p.Ile225Met)	CPZ (I214M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2364957	NM_001014447.3(CPZ):c.718G>C (p.Glu240Gln)	CPZ (E229Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280233	NM_001014447.3(CPZ):c.718G>A (p.Glu240Lys)	CPZ (E103K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514178	NM_001014447.3(CPZ):c.746G>T (p.Gly249Val)	CPZ (G238V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775948	NM_001014447.3(CPZ):c.750C>T (p.Asn250=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder +1 more	GBenign
Select item 2324009	NM_001014447.3(CPZ):c.751G>A (p.Glu251Lys)	CPZ (E114K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077018	NM_001014447.3(CPZ):c.764G>A (p.Arg255Gln)	CPZ (R118Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709574	NM_001014447.3(CPZ):c.788A>G (p.Gln263Arg)	CPZ (Q263R +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder +1 more	GBenign
Select item 3077020	NM_001014447.3(CPZ):c.814G>T (p.Gly272Cys)	CPZ (G261C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346794	NM_001014447.3(CPZ):c.823C>T (p.Arg275Cys)	CPZ (R264C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077021	NM_001014447.3(CPZ):c.832C>T (p.Arg278Cys)	CPZ (R141C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154746	GRCh38/hg38 4p16.1(chr4:8606112-9556518)x3	CPZ, DEFB131A +28 more	Copy number gain	See cases	GLikely benign
Select item 2542499	NM_001014447.3(CPZ):c.841A>T (p.Asn281Tyr)	CPZ (N281Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049378	NM_001014447.3(CPZ):c.850C>T (p.Arg284Cys)	CPZ (R147C +2 more)	Single nucleotide variant (missense variant)	CPZ-related disorder	GLikely benign
Select item 3077022	NM_001014447.3(CPZ):c.851G>T (p.Arg284Leu)	CPZ (R284L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406606	NM_001014447.3(CPZ):c.851G>A (p.Arg284His)	CPZ (R147H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269337	NM_001014447.3(CPZ):c.855C>G (p.Ile285Met)	CPZ (I274M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077023	NM_001014447.3(CPZ):c.878C>T (p.Pro293Leu)	CPZ (P282L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077024	NM_001014447.3(CPZ):c.887A>G (p.Tyr296Cys)	CPZ (Y285C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033724	NM_001014447.3(CPZ):c.903C>G (p.Ala301=)	CPZ	Single nucleotide variant (synonymous variant)	CPZ-related disorder	GBenign
Select item 2688865	NM_001014447.3(CPZ):c.906+1G>A	CPZ	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3269326	NM_001014447.3(CPZ):c.933C>G (p.Ser311Arg)	CPZ (S174R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330872	NM_001014447.3(CPZ):c.949C>T (p.Gln317Ter)	CPZ (Q180* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3077025	NM_001014447.3(CPZ):c.956T>C (p.Leu319Pro)	CPZ (L308P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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