CCPG1[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 151013	GRCh38/hg38 15q21.3(chr15:54998301-55749136)x3	CCPG1, DNAAF4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 58571	GRCh38/hg38 15q21.3(chr15:55279032-55622007)x3	CCPG1, DNAAF4 +23 more	Copy number gain	See cases	GPathogenic
Select item 2099988	NM_004855.5(PIGB):c.1519-20A>G	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1565530	NM_004855.5(PIGB):c.1519-7C>G	PIGB, CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1577109	NM_004855.5(PIGB):c.1527C>T (p.Ser509=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GBenign
Select item 2708094	NM_004855.5(PIGB):c.1533C>T (p.Phe511=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1956110	NM_004855.5(PIGB):c.1559C>A (p.Thr520Asn)	DNAAF4-CCPG1, CCPG1 +1 more (T520N)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1985131	NM_004855.5(PIGB):c.1569C>A (p.Phe523Leu)	CCPG1, PIGB +1 more (F523L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1577051	NM_004855.5(PIGB):c.1572C>T (p.Phe524=)	PIGB, CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2434836	NM_004855.5(PIGB):c.1594C>T (p.Arg532Ter)	CCPG1, DNAAF4-CCPG1 +1 more (R532*)	Single nucleotide variant (non-coding transcript variant +2 more)	Developmental and epileptic encephalopathy, 80	GUncertain significance
Select item 2529519	NM_004855.5(PIGB):c.1595G>A (p.Arg532Gln)	CCPG1, DNAAF4-CCPG1 +1 more (R532Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2060262	NM_004855.5(PIGB):c.1605T>C (p.Ser535=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1423964	NM_004855.5(PIGB):c.1609A>T (p.Ile537Leu)	CCPG1, DNAAF4-CCPG1 +1 more (I537L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 976715	NM_004855.5(PIGB):c.1611A>G (p.Ile537Met)	CCPG1, DNAAF4-CCPG1 +1 more (I537M)	Single nucleotide variant (non-coding transcript variant +2 more)	Developmental and epileptic encephalopathy, 80 +1 more	GPathogenic/Likely pathogenic
Select item 1976422	NM_004855.5(PIGB):c.1618T>C (p.Tyr540His)	CCPG1, DNAAF4-CCPG1 +1 more (Y540H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2049888	NM_004855.5(PIGB):c.1624C>T (p.Arg542Trp)	CCPG1, DNAAF4-CCPG1 +1 more (R542W)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2291900	NM_004855.5(PIGB):c.1626del (p.Lys543fs)	CCPG1, DNAAF4-CCPG1 +1 more (K543fs)	Deletion (non-coding transcript variant +2 more)	not specified +1 more	GUncertain significance
Select item 1940919	NM_004855.5(PIGB):c.1625G>A (p.Arg542Gln)	DNAAF4-CCPG1, CCPG1 +1 more (R542Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1586179	NM_004855.5(PIGB):c.1626G>C (p.Arg542=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2044804	NM_004855.5(PIGB):c.1630T>C (p.Leu544=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1988600	NM_004855.5(PIGB):c.1635del (p.Lys547fs)	PIGB, CCPG1 +1 more (K547fs)	Deletion (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2834196	NM_004855.5(PIGB):c.1644C>T (p.Phe548=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 785488	NM_004855.5(PIGB):c.1652A>C (p.Lys551Thr)	PIGB, CCPG1 +1 more (K551T)	Single nucleotide variant (non-coding transcript variant +2 more)	PIGB-related disorder +1 more	GBenign
Select item 3140055	NM_001204450.2(CCPG1):c.2395G>T (p.Gly799Trp)	CCPG1, DNAAF4-CCPG1 (G416W +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3140054	NM_001204450.2(CCPG1):c.2351G>A (p.Gly784Asp)	CCPG1, DNAAF4-CCPG1 (G401D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2341752	NM_001204450.2(CCPG1):c.2192G>A (p.Arg731Lys)	CCPG1, DNAAF4-CCPG1 (R348K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2258443	NM_001204450.2(CCPG1):c.2129A>G (p.Asn710Ser)	CCPG1, DNAAF4-CCPG1 (N327S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3140053	NM_001204450.2(CCPG1):c.2062G>A (p.Gly688Ser)	CCPG1, DNAAF4-CCPG1 (G688S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2213453	NM_001204450.2(CCPG1):c.2048A>G (p.Lys683Arg)	CCPG1, DNAAF4-CCPG1 (K683R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3140052	NM_001204450.2(CCPG1):c.2005G>A (p.Asp669Asn)	CCPG1, DNAAF4-CCPG1 (D669N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2260517	NM_001204450.2(CCPG1):c.1939G>A (p.Val647Met)	CCPG1, DNAAF4-CCPG1 (V647M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2558654	NM_001204450.2(CCPG1):c.1889C>G (p.Ser630Cys)	CCPG1, DNAAF4-CCPG1 (S630C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2511610	NM_001204450.2(CCPG1):c.1867C>T (p.His623Tyr)	CCPG1, DNAAF4-CCPG1 (H623Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3140051	NM_001204450.2(CCPG1):c.1837A>G (p.Ser613Gly)	CCPG1, DNAAF4-CCPG1 (S613G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3140050	NM_001204450.2(CCPG1):c.1784A>G (p.Glu595Gly)	CCPG1, DNAAF4-CCPG1 (E595G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2372975	NM_001204450.2(CCPG1):c.1727C>T (p.Ala576Val)	CCPG1, DNAAF4-CCPG1 (A576V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2212316	NM_001204450.2(CCPG1):c.1670A>C (p.Glu557Ala)	CCPG1, DNAAF4-CCPG1 (E557A)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2209504	NM_001204450.2(CCPG1):c.1588A>G (p.Lys530Glu)	CCPG1, DNAAF4-CCPG1 (K530E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2341737	NM_001204450.2(CCPG1):c.1517A>T (p.His506Leu)	CCPG1, DNAAF4-CCPG1 (H506L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2645365	NM_001204450.2(CCPG1):c.1299G>A (p.Glu433=)	CCPG1, DNAAF4-CCPG1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3140048	NM_001204450.2(CCPG1):c.1298A>G (p.Glu433Gly)	CCPG1, DNAAF4-CCPG1 (E433G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2263784	NM_001204450.2(CCPG1):c.1247A>G (p.Asn416Ser)	CCPG1, DNAAF4-CCPG1 (N416S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2291775	NM_001204450.2(CCPG1):c.1213G>T (p.Gly405Cys)	CCPG1, DNAAF4-CCPG1 (G405C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2375314	NM_001204450.2(CCPG1):c.1191G>C (p.Arg397Ser)	CCPG1, DNAAF4-CCPG1 (R397S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3140047	NM_001204450.2(CCPG1):c.1181C>T (p.Thr394Met)	CCPG1, DNAAF4-CCPG1 (T394M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2546919	NM_001204450.2(CCPG1):c.1153G>C (p.Glu385Gln)	CCPG1, DNAAF4-CCPG1 (E385Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3140060	NM_001204450.2(CCPG1):c.997G>A (p.Glu333Lys)	CCPG1, DNAAF4-CCPG1 (E333K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2270142	NM_001204450.2(CCPG1):c.902C>T (p.Thr301Met)	CCPG1, DNAAF4-CCPG1 (T301M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2548961	NM_001204450.2(CCPG1):c.833T>C (p.Leu278Ser)	CCPG1, DNAAF4-CCPG1 (L278S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3140058	NM_001204450.2(CCPG1):c.822T>G (p.Asp274Glu)	CCPG1, DNAAF4-CCPG1 (D274E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3140057	NM_001204450.2(CCPG1):c.821A>G (p.Asp274Gly)	CCPG1, DNAAF4-CCPG1 (D274G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2604934	NM_001204450.2(CCPG1):c.679A>G (p.Ile227Val)	CCPG1, DNAAF4-CCPG1 (I227V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2205585	NM_001204450.2(CCPG1):c.581T>C (p.Leu194Pro)	CCPG1, DNAAF4-CCPG1 (L194P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2348888	NM_001204450.2(CCPG1):c.578G>A (p.Arg193Gln)	CCPG1, DNAAF4-CCPG1 (R193Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2244750	NM_001204450.2(CCPG1):c.437T>C (p.Phe146Ser)	CCPG1, DNAAF4-CCPG1 (F146S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2529181	NM_001204450.2(CCPG1):c.428A>G (p.Gln143Arg)	CCPG1, DNAAF4-CCPG1 (Q143R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2553758	NM_001204450.2(CCPG1):c.419C>G (p.Ser140Cys)	CCPG1, DNAAF4-CCPG1 (S140C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2316278	NM_001204450.2(CCPG1):c.381A>C (p.Glu127Asp)	CCPG1, DNAAF4-CCPG1 (E127D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2204781	NM_001204450.2(CCPG1):c.365T>A (p.Val122Asp)	CCPG1, DNAAF4-CCPG1 (V122D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3140056	NM_001204450.2(CCPG1):c.359A>G (p.Gln120Arg)	CCPG1, DNAAF4-CCPG1 (Q120R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2353586	NM_001204450.2(CCPG1):c.285C>G (p.Ile95Met)	CCPG1, DNAAF4-CCPG1 (I95M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2589001	NM_001204450.2(CCPG1):c.247A>G (p.Ile83Val)	CCPG1, DNAAF4-CCPG1 (I83V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2235841	NM_001204450.2(CCPG1):c.223G>A (p.Ala75Thr)	CCPG1, DNAAF4-CCPG1 (A75T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2266048	NM_001204450.2(CCPG1):c.202A>C (p.Met68Leu)	CCPG1, DNAAF4-CCPG1 (M68L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2588016	NM_001204450.2(CCPG1):c.125G>A (p.Cys42Tyr)	CCPG1, DNAAF4-CCPG1 (C42Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3243904	NC_000015.9:g.(?_55611449)_(55722997_?)del	CCPG1, DNAAF4 +2 more	Deletion	not provided	GLikely pathogenic
Select item 3243875	NC_000015.9:g.(?_55646976)_(55647630_?)del	CCPG1, PIGB	Deletion	not provided	GPathogenic
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	WDR72, ZNF280D +35 more	Copy number loss	not provided	GPathogenic
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2427201	NC_000015.9:g.(?_55631445)_(55742585_?)dup	CCPG1, DNAAF4 +2 more	Duplication	not provided	GUncertain significance
Select item 2425235	NC_000015.9:g.(?_55611449)_(55647630_?)dup	CCPG1, PIGB	Duplication	not provided	GUncertain significance
Select item 2425233	NC_000015.9:g.(?_55497705)_(55790527_?)del	CCPG1, DNAAF4 +3 more	Deletion	not provided	GPathogenic
Select item 2425177	NC_000015.9:g.(?_55497705)_(55727276_?)dup	CCPG1, DNAAF4 +3 more	Duplication	Griscelli syndrome type 2	GUncertain significance
Select item 1809173	GRCh37/hg19 15q21.3(chr15:55346224-55967397)x3	CCPG1, DNAAF4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808194	GRCh37/hg19 15q21.3(chr15:55588733-55647861)x1	CCPG1, PIGB	Copy number loss	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1526458	GRCh37/hg19 15q21.3(chr15:55500248-55858264)	CCPG1, DNAAF4 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980041	GRCh37/hg19 15q21.3(chr15:55527873-55832430)x3	PIERCE2, RAB27A +3 more	Copy number gain	not provided	GLikely benign
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564202	GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3	LYSMD2, ARPP19 +36 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	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)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395569	GRCh37/hg19 15q21.3(chr15:55562495-55930392)x3	CCPG1, DNAAF4 +5 more	Copy number gain	See cases	GUncertain significance
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 226247	GRCh37/hg19 15q21.3(chr15:55354493-55956320)	RAB27A, PYGO1 +6 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 94