RPAP3-DT[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 2249745	NM_001172439.2(ENDOU):c.1210G>C (p.Ala404Pro)	ENDOU, RPAP3-DT (A363P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088848	NM_001172439.2(ENDOU):c.1153C>T (p.Arg385Trp)	ENDOU, RPAP3-DT (R322W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304590	NM_001172439.2(ENDOU):c.1060C>A (p.Pro354Thr)	ENDOU, RPAP3-DT (P291T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345830	NM_001172439.2(ENDOU):c.988G>A (p.Asp330Asn)	ENDOU, RPAP3-DT (D267N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720453	NM_001172439.2(ENDOU):c.951C>T (p.Tyr317=)	ENDOU, RPAP3-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2467280	NM_001172439.2(ENDOU):c.941T>C (p.Val314Ala)	ENDOU, RPAP3-DT (V273A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207297	NM_001172439.2(ENDOU):c.941T>A (p.Val314Asp)	ENDOU, RPAP3-DT (V273D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326412	NM_001172439.2(ENDOU):c.851A>C (p.Glu284Ala)	ENDOU, RPAP3-DT (E284A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088851	NM_001172439.2(ENDOU):c.839C>T (p.Ser280Leu)	ENDOU, RPAP3-DT (S217L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243389	NM_001172439.2(ENDOU):c.802T>C (p.Phe268Leu)	ENDOU, RPAP3-DT (F205L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353190	NM_001172439.2(ENDOU):c.715G>C (p.Val239Leu)	ENDOU, RPAP3-DT (V198L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275420	NM_001172439.2(ENDOU):c.692T>C (p.Leu231Pro)	ENDOU, RPAP3-DT (L190P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784236	NM_001172439.2(ENDOU):c.684C>T (p.Asp228=)	ENDOU, RPAP3-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 787924	NM_001172439.2(ENDOU):c.632G>A (p.Arg211Gln)	ENDOU, RPAP3-DT (R170Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3088850	NM_001172439.2(ENDOU):c.538C>T (p.Arg180Cys)	ENDOU, RPAP3-DT (R117C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232798	NM_001172439.2(ENDOU):c.523A>G (p.Arg175Gly)	ENDOU, RPAP3-DT (R134G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532659	NM_001172439.2(ENDOU):c.277C>T (p.Arg93Cys)	ENDOU, RPAP3-DT (R30C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220029	NM_001172439.2(ENDOU):c.268T>C (p.Cys90Arg)	ENDOU, RPAP3-DT (C27R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088849	NM_001172439.2(ENDOU):c.242G>T (p.Ser81Ile)	ENDOU, RPAP3-DT (S81I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550218	NM_001172439.2(ENDOU):c.208C>G (p.Gln70Glu)	ENDOU, RPAP3-DT (Q70E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2254665	NM_001172439.2(ENDOU):c.131G>A (p.Cys44Tyr)	ENDOU, RPAP3-DT (C44Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282555	NM_001172439.2(ENDOU):c.127C>T (p.Arg43Trp)	ENDOU, RPAP3-DT (R43W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247675	NM_001172439.2(ENDOU):c.118T>C (p.Cys40Arg)	ENDOU, RPAP3-DT (C40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 24