ClinVar for Gene (Select 5507) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309467	NM_005398.7(PPP1R3C):c.95A>G (p.His32Arg)	PPP1R3C (H32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309466	NM_005398.7(PPP1R3C):c.486C>G (p.Cys162Trp)	PPP1R3C (C162W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217672	NM_005398.7(PPP1R3C):c.950G>C (p.Arg317Pro)	PPP1R3C (R317P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217671	NM_005398.7(PPP1R3C):c.932A>G (p.Glu311Gly)	PPP1R3C (E311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217670	NM_005398.7(PPP1R3C):c.815C>G (p.Pro272Arg)	PPP1R3C (P272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217669	NM_005398.7(PPP1R3C):c.716A>G (p.His239Arg)	PPP1R3C (H239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217668	NM_005398.7(PPP1R3C):c.64G>A (p.Val22Met)	PPP1R3C (V22M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217667	NM_005398.7(PPP1R3C):c.595G>A (p.Val199Ile)	PPP1R3C (V199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217666	NM_005398.7(PPP1R3C):c.514A>T (p.Thr172Ser)	PPP1R3C (T172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217665	NM_005398.7(PPP1R3C):c.509C>G (p.Thr170Arg)	PPP1R3C (T170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217664	NM_005398.7(PPP1R3C):c.445C>T (p.Arg149Trp)	PPP1R3C (R149W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217663	NM_005398.7(PPP1R3C):c.358A>G (p.Asn120Asp)	PPP1R3C (N120D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217662	NM_005398.7(PPP1R3C):c.355C>T (p.Leu119Phe)	PPP1R3C (L119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217661	NM_005398.7(PPP1R3C):c.338A>C (p.Gln113Pro)	PPP1R3C (Q113P)	Single nucleotide variant (missense variant)	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 2518254	NM_005398.7(PPP1R3C):c.86G>A (p.Cys29Tyr)	PPP1R3C (C29Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 2406281	NM_005398.7(PPP1R3C):c.125C>T (p.Pro42Leu)	PPP1R3C (P42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379157	NM_005398.7(PPP1R3C):c.643A>G (p.Thr215Ala)	PPP1R3C (T215A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368702	NM_005398.7(PPP1R3C):c.629G>T (p.Gly210Val)	PPP1R3C (G210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308033	NM_005398.7(PPP1R3C):c.385C>T (p.His129Tyr)	PPP1R3C (H129Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267870	NM_005398.7(PPP1R3C):c.880C>A (p.Pro294Thr)	PPP1R3C (P294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219647	NM_005398.7(PPP1R3C):c.115T>C (p.Phe39Leu)	PPP1R3C (F39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211745	NM_005398.7(PPP1R3C):c.325G>T (p.Ala109Ser)	PPP1R3C (A109S)	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 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 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 443180	GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1	BTAF1, CEP55 +20 more	Copy number loss	See cases	GPathogenic
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
Select item 161634	NM_005398.7(PPP1R3C):c.458A>G (p.Gln153Arg)	PPP1R3C (Q153R)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance

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Links from Gene

Items: 39