"Ambry Genetics"[submitter] AND "XPO5"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2235738	NM_020750.3(XPO5):c.3575A>G (p.Asp1192Gly)	POLR1C, XPO5 (D1192G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333489	NM_020750.3(XPO5):c.3553A>G (p.Met1185Val)	POLR1C, XPO5 (M1185V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191247	NM_020750.3(XPO5):c.3268A>G (p.Met1090Val)	POLR1C, XPO5 (M1090V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524492	NM_020750.3(XPO5):c.3196G>A (p.Ala1066Thr)	POLR1C, XPO5 (A1066T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191245	NM_020750.3(XPO5):c.3137G>A (p.Arg1046Lys)	POLR1C, XPO5 (R1046K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481835	NM_020750.3(XPO5):c.2994G>C (p.Met998Ile)	POLR1C, XPO5 (M998I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2250661	NM_020750.3(XPO5):c.2900G>A (p.Arg967Gln)	POLR1C, XPO5 (R967Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2410540	NM_020750.3(XPO5):c.2749G>A (p.Gly917Arg)	POLR1C, XPO5 (G917R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333487	NM_020750.3(XPO5):c.2745C>G (p.Ile915Met)	POLR1C, XPO5 (I915M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333490	NM_020750.3(XPO5):c.2626G>C (p.Ala876Pro)	POLR1C, XPO5 (A876P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377326	NM_020750.3(XPO5):c.2591C>G (p.Thr864Ser)	POLR1C, XPO5 (T864S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333488	NM_020750.3(XPO5):c.2531A>G (p.Tyr844Cys)	POLR1C, XPO5 (Y844C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2056092	NM_020750.3(XPO5):c.2471A>G (p.Asn824Ser)	POLR1C, XPO5 (N824S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2508652	NM_020750.3(XPO5):c.2439A>G (p.Ile813Met)	POLR1C, XPO5 (I813M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2529364	NM_020750.3(XPO5):c.2437A>G (p.Ile813Val)	POLR1C, XPO5 (I813V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333484	NM_020750.3(XPO5):c.2423C>T (p.Ala808Val)	POLR1C, XPO5 (A808V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311356	NM_020750.3(XPO5):c.2333C>T (p.Ala778Val)	POLR1C, XPO5 (A778V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2237355	NM_020750.3(XPO5):c.2333C>G (p.Ala778Gly)	POLR1C, XPO5 (A778G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570549	NM_020750.3(XPO5):c.2317C>T (p.Leu773Phe)	POLR1C, XPO5 (L773F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2059780	NM_020750.3(XPO5):c.2260A>G (p.Thr754Ala)	POLR1C, XPO5 (T754A)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2494422	NM_020750.3(XPO5):c.2254G>T (p.Gly752Cys)	POLR1C, XPO5 (G752C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191243	NM_020750.3(XPO5):c.2210G>C (p.Trp737Ser)	POLR1C, XPO5 (W737S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1377342	NM_020750.3(XPO5):c.2159G>A (p.Arg720Gln)	LOC126859677, POLR1C +1 more (R720Q)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2347474	NM_020750.3(XPO5):c.2138C>T (p.Pro713Leu)	LOC126859677, POLR1C +1 more (P713L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1423330	NM_020750.3(XPO5):c.2090C>T (p.Ala697Val)	POLR1C, XPO5 +1 more (A697V)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2194256	NM_020750.3(XPO5):c.1991G>A (p.Arg664His)	POLR1C, XPO5 (R664H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2594600	NM_020750.3(XPO5):c.1987G>A (p.Glu663Lys)	POLR1C, XPO5 (E663K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222195	NM_020750.3(XPO5):c.1928T>C (p.Met643Thr)	POLR1C, XPO5 (M643T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475839	NM_020750.3(XPO5):c.1889T>G (p.Val630Gly)	POLR1C, XPO5 (V630G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528705	NM_020750.3(XPO5):c.1783C>T (p.Arg595Trp)	POLR1C, XPO5 (R595W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511230	NM_020750.3(XPO5):c.1664A>C (p.Asn555Thr)	POLR1C, XPO5 (N555T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2232424	NM_020750.3(XPO5):c.1663A>G (p.Asn555Asp)	POLR1C, XPO5 (N555D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268725	NM_020750.3(XPO5):c.1595T>C (p.Ile532Thr)	POLR1C, XPO5 (I532T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191242	NM_020750.3(XPO5):c.1424A>T (p.Asp475Val)	POLR1C, XPO5 (D475V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333485	NM_020750.3(XPO5):c.1298A>G (p.Asn433Ser)	POLR1C, XPO5 (N433S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589262	NM_020750.3(XPO5):c.1204A>G (p.Met402Val)	POLR1C, XPO5 (M402V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333491	NM_020750.3(XPO5):c.1181T>C (p.Ile394Thr)	POLR1C, XPO5 (I394T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523930	NM_020750.3(XPO5):c.817A>G (p.Ile273Val)	XPO5 (I273V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227396	NM_020750.3(XPO5):c.718A>G (p.Met240Val)	XPO5 (M240V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191248	NM_020750.3(XPO5):c.716C>T (p.Ser239Phe)	XPO5 (S239F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381649	NM_020750.3(XPO5):c.673G>A (p.Val225Ile)	XPO5 (V225I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2075839	NM_020750.3(XPO5):c.661T>C (p.Cys221Arg)	XPO5 (C221R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2281105	NM_020750.3(XPO5):c.344C>T (p.Ala115Val)	XPO5 (A115V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2621959	NM_020750.3(XPO5):c.313A>G (p.Ile105Val)	XPO5 (I105V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191244	NM_020750.3(XPO5):c.262G>A (p.Val88Met)	XPO5 (V88M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2174928	NM_020750.3(XPO5):c.233G>A (p.Arg78Gln)	XPO5 (R78Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2320558	NM_020750.3(XPO5):c.142G>T (p.Val48Phe)	XPO5 (V48F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 47