RPP30[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3156147	NM_006413.5(RPP30):c.8T>G (p.Val3Gly)	LOC111982879, RPP30 (V3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640672	NM_006413.5(RPP30):c.32C>T (p.Ala11Val)	LOC111982879, RPP30 (A11V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2397616	NM_006413.5(RPP30):c.69G>C (p.Glu23Asp)	LOC111982879, RPP30 (E23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593104	NM_006413.5(RPP30):c.241G>A (p.Val81Ile)	RPP30 (V81I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469578	NM_006413.5(RPP30):c.245C>T (p.Ser82Leu)	RPP30 (S82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476637	NM_006413.5(RPP30):c.338T>C (p.Phe113Ser)	RPP30 (F113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473948	NM_006413.5(RPP30):c.400C>T (p.Pro134Ser)	RPP30 (P134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411015	NM_006413.5(RPP30):c.418C>T (p.Pro140Ser)	RPP30 (P140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315254	NM_006413.5(RPP30):c.475G>C (p.Ala159Pro)	RPP30 (A159P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366689	NM_006413.5(RPP30):c.493A>G (p.Met165Val)	RPP30 (M165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315253	NM_006413.5(RPP30):c.497G>A (p.Arg166Lys)	RPP30 (R166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156143	NM_006413.5(RPP30):c.503A>G (p.Tyr168Cys)	RPP30 (Y168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278932	NM_006413.5(RPP30):c.523A>C (p.Asn175His)	RPP30 (N175H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495744	NM_006413.5(RPP30):c.620G>A (p.Gly207Asp)	RPP30 (G207D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218886	NM_006413.5(RPP30):c.620G>C (p.Gly207Ala)	RPP30 (G207A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156144	NM_006413.5(RPP30):c.649G>T (p.Ala217Ser)	RPP30 (A217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460912	NM_006413.5(RPP30):c.649G>A (p.Ala217Thr)	RPP30 (A217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156145	NM_006413.5(RPP30):c.679G>A (p.Ala227Thr)	RPP30 (A227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205200	NM_006413.5(RPP30):c.683C>T (p.Ala228Val)	RPP30 (A228V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2640673	NM_006413.5(RPP30):c.693T>C (p.His231=)	RPP30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3156146	NM_006413.5(RPP30):c.717T>G (p.Phe239Leu)	RPP30 (F239L)	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 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 1807569	GRCh37/hg19 10q23.31(chr10:92549833-92657760)x1	HTR7, RPP30	Copy number loss	not provided	GUncertain significance
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 815368	GRCh37/hg19 10q23.31(chr10:92614401-92722894)x1	RPP30, ANKRD1 +1 more	Copy number loss	not provided	GUncertain significance
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 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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Items: 40