ClinVar for Gene (Select 84333) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305113	NM_032373.5(PCGF5):c.667C>T (p.Arg223Trp)	PCGF5 (R223W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305112	NM_032373.5(PCGF5):c.221C>T (p.Thr74Ile)	PCGF5 (T74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210192	NM_032373.5(PCGF5):c.374A>T (p.Glu125Val)	PCGF5 (E125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210191	NM_032373.5(PCGF5):c.164G>A (p.Arg55Lys)	PCGF5 (R55K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063146	GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	ACTA2, ANKRD1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2536650	NM_032373.5(PCGF5):c.658G>A (p.Glu220Lys)	PCGF5 (E220K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368701	NM_032373.5(PCGF5):c.481A>G (p.Met161Val)	PCGF5 (M161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303605	NM_032373.5(PCGF5):c.733A>G (p.Met245Val)	PCGF5 (M245V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 444230	NM_032373.5(PCGF5):c.456_457del (p.Asp154fs)	PCGF5 (D154fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 442288	GRCh37/hg19 10q23.31-23.32(chr10:92605118-92926773)x1	ANKRD1, HTR7 +2 more	Copy number loss	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Links from Gene

Items: 25