PIERCE2[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +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 2645366	NM_001033560.2(DNAAF4):c.1090C>T (p.Pro364Ser)	DNAAF4, DNAAF4-CCPG1 +1 more (P364S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3388153	NM_001198784.2(PIERCE2):c.156A>G (p.Ser52=)	DNAAF4, DNAAF4-CCPG1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3243904	NC_000015.9:g.(?_55611449)_(55722997_?)del	CCPG1, DNAAF4 +2 more	Deletion	not provided	GLikely pathogenic
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +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 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 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 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	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 1011943	NC_000015.9:g.(?_55710213)_(55742585_?)dup	DNAAF4, PIERCE2	Duplication	not provided	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 832519	NC_000015.10:g.(?_55418015)_(55508896_?)del	DNAAF4, PIERCE2	Deletion	not provided	GPathogenic
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 564207	GRCh37/hg19 15q21.3(chr15:55702481-55797835)x1	PIERCE2, DNAAF4	Copy number loss	not provided	GUncertain significance
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	PDIA3, PEAK1 +521 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)	NOX5, NPAP1 +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	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 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: 33