PYGO1[gene] - ClinVar

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Items: 46

	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 3150218	NM_001367806.1(PYGO1):c.1232G>A (p.Gly411Asp)	PYGO1 (G411D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150225	NM_001367806.1(PYGO1):c.907A>T (p.Thr303Ser)	PYGO1 (T303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150224	NM_001367806.1(PYGO1):c.839A>G (p.Asn280Ser)	PYGO1 (N280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242451	NM_001367806.1(PYGO1):c.709C>A (p.Pro237Thr)	PYGO1 (P237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411025	NM_001367806.1(PYGO1):c.647T>C (p.Leu216Ser)	PYGO1 (L216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557570	NM_001367806.1(PYGO1):c.595G>A (p.Asp199Asn)	PYGO1 (D199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150223	NM_001367806.1(PYGO1):c.593C>A (p.Pro198His)	PYGO1 (P198H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613706	NM_001367806.1(PYGO1):c.560T>G (p.Ile187Ser)	PYGO1 (I187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285212	NM_001367806.1(PYGO1):c.541G>T (p.Ala181Ser)	PYGO1 (A181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624077	NM_001367806.1(PYGO1):c.529A>G (p.Arg177Gly)	PYGO1 (R177G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393900	NM_001367806.1(PYGO1):c.505G>C (p.Val169Leu)	PYGO1 (V169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515378	NM_001367806.1(PYGO1):c.388C>G (p.Pro130Ala)	PYGO1 (P130A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150222	NM_001367806.1(PYGO1):c.349C>G (p.Pro117Ala)	PYGO1 (P117A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208765	NM_001367806.1(PYGO1):c.328G>A (p.Val110Ile)	PYGO1 (V110I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610505	NM_001367806.1(PYGO1):c.302A>G (p.Tyr101Cys)	PYGO1 (Y101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150221	NM_001367806.1(PYGO1):c.194A>G (p.His65Arg)	PYGO1 (H65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150220	NM_001367806.1(PYGO1):c.176C>T (p.Pro59Leu)	PYGO1 (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150219	NM_001367806.1(PYGO1):c.173C>T (p.Pro58Leu)	PYGO1 (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298510	NM_001367806.1(PYGO1):c.143C>G (p.Ser48Cys)	PYGO1 (S48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150217	NM_001367806.1(PYGO1):c.118C>T (p.Arg40Cys)	PYGO1 (R40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 +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 1340208	GRCh37/hg19 15q21.3(chr15:55772371-57880518)x1	CGNL1, DNAAF4 +8 more	Copy number loss	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980047	GRCh37/hg19 15q21.3(chr15:55797842-55943656)x1	PYGO1, PRTG +1 more	Copy number loss	not provided	GUncertain significance
Select item 980044	GRCh37/hg19 15q21.3(chr15:55878085-56013263)x1	PRTG, PYGO1	Copy number loss	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: 46