RPAP3[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 2475732	NM_024604.3(RPAP3):c.1960A>G (p.Ser654Gly)	RPAP3 (S495G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222491	NM_024604.3(RPAP3):c.1865A>G (p.Lys622Arg)	RPAP3 (K463R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552280	NM_024604.3(RPAP3):c.1864A>G (p.Lys622Glu)	RPAP3 (K463E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210338	NM_024604.3(RPAP3):c.1855T>C (p.Ser619Pro)	RPAP3 (S460P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546351	NM_024604.3(RPAP3):c.1750A>G (p.Lys584Glu)	RPAP3 (K550E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155952	NM_024604.3(RPAP3):c.1696T>G (p.Leu566Val)	RPAP3 (L566V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621140	NM_024604.3(RPAP3):c.1685C>G (p.Ser562Cys)	RPAP3 (S528C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207076	NM_024604.3(RPAP3):c.1653G>T (p.Gln551His)	RPAP3 (Q517H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155951	NM_024604.3(RPAP3):c.1628C>T (p.Pro543Leu)	RPAP3 (P509L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155950	NM_024604.3(RPAP3):c.1568G>A (p.Ser523Asn)	RPAP3 (S364N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557210	NM_024604.3(RPAP3):c.1549G>A (p.Asp517Asn)	RPAP3 (D517N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328680	NM_024604.3(RPAP3):c.1463C>T (p.Thr488Ile)	RPAP3 (T454I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460992	NM_024604.3(RPAP3):c.1462A>C (p.Thr488Pro)	RPAP3 (T329P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340102	NM_024604.3(RPAP3):c.1453C>T (p.Leu485Phe)	RPAP3 (L326F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532902	NM_024604.3(RPAP3):c.1401T>G (p.Asn467Lys)	RPAP3 (N433K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454776	NM_024604.3(RPAP3):c.1372C>T (p.Pro458Ser)	RPAP3 (P299S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315136	NM_024604.3(RPAP3):c.1339A>T (p.Ile447Phe)	RPAP3 (I413F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155949	NM_024604.3(RPAP3):c.1322G>A (p.Gly441Asp)	RPAP3 (G282D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155948	NM_024604.3(RPAP3):c.1309A>C (p.Ile437Leu)	RPAP3 (I278L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599224	NM_024604.3(RPAP3):c.1306A>T (p.Ile436Phe)	RPAP3 (I436F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268769	NM_024604.3(RPAP3):c.1276C>T (p.Pro426Ser)	RPAP3 (P267S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315135	NM_024604.3(RPAP3):c.1268C>T (p.Pro423Leu)	RPAP3 (P423L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155947	NM_024604.3(RPAP3):c.1253A>C (p.Lys418Thr)	RPAP3 (K259T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535089	NM_024604.3(RPAP3):c.1032A>T (p.Leu344Phe)	RPAP3 (L185F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367217	NM_024604.3(RPAP3):c.928G>A (p.Ala310Thr)	RPAP3 (A151T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552913	NM_024604.3(RPAP3):c.862C>T (p.Arg288Trp)	RPAP3 (R129W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615329	NM_024604.3(RPAP3):c.607G>C (p.Ala203Pro)	RPAP3 (A203P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288054	NM_024604.3(RPAP3):c.487G>A (p.Asp163Asn)	RPAP3 (D4N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155955	NM_024604.3(RPAP3):c.478A>T (p.Met160Leu)	RPAP3 (M160L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233255	NM_024604.3(RPAP3):c.367G>A (p.Glu123Lys)	RPAP3 (E123K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155954	NM_024604.3(RPAP3):c.349C>G (p.Gln117Glu)	RPAP3 (Q117E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314528	NM_024604.3(RPAP3):c.343C>G (p.Leu115Val)	RPAP3 (L115V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2250111	NM_024604.3(RPAP3):c.326A>G (p.Asp109Gly)	RPAP3 (D109G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588098	NM_024604.3(RPAP3):c.324C>A (p.Asp108Glu)	RPAP3 (D108E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2383622	NM_024604.3(RPAP3):c.298C>T (p.Arg100Cys)	RPAP3 (R100C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592710	NM_024604.3(RPAP3):c.211G>C (p.Glu71Gln)	RPAP3 (E71Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155956	NM_024604.3(RPAP3):c.98A>G (p.Lys33Arg)	RPAP3 (K33R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315134	NM_024604.3(RPAP3):c.77G>T (p.Arg26Leu)	RPAP3 (R26L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 1710515	GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1	AMIGO2, ANO6 +27 more	Copy number loss	not provided	GPathogenic
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 48