"PreventionGenetics, part of Exact Sciences"[submitter] AND "XPO5"[gen - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036352	NM_020750.3(XPO5):c.3531A>G (p.Ser1177=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	XPO5-related disorder	GLikely benign
Select item 1413209	NM_020750.3(XPO5):c.3447A>T (p.Gln1149His)	POLR1C, XPO5 (Q1149H)	Single nucleotide variant (missense variant +2 more)	XPO5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2746911	NM_020750.3(XPO5):c.3313-4T>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2631248	NM_020750.3(XPO5):c.3245T>A (p.Met1082Lys)	POLR1C, XPO5 (M1082K)	Single nucleotide variant (missense variant +2 more)	XPO5-related disorder	GUncertain significance
Select item 2169914	NM_020750.3(XPO5):c.3210G>A (p.Thr1070=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2752435	NM_020750.3(XPO5):c.3093A>C (p.Thr1031=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	XPO5-related disorder +1 more	GLikely benign
Select item 2084044	NM_020750.3(XPO5):c.3081G>A (p.Ala1027=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3058191	NM_020750.3(XPO5):c.2967C>A (p.Pro989=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	XPO5-related disorder	GLikely benign
Select item 2038950	NM_020750.3(XPO5):c.2942A>G (p.Lys981Arg)	POLR1C, XPO5 (K981R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 3044792	NM_020750.3(XPO5):c.2775+9T>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	XPO5-related disorder	GLikely benign
Select item 3036944	NM_020750.3(XPO5):c.2724T>C (p.Tyr908=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	XPO5-related disorder	GLikely benign
Select item 3055864	NM_020750.3(XPO5):c.2678-345G>A	POLR1C, XPO5 (A315V)	Single nucleotide variant (missense variant +1 more)	POLR1C-related disorder	GBenign
Select item 3056369	NM_020750.3(XPO5):c.2678-426_2678-425insA	POLR1C, XPO5 (G342fs)	Insertion (frameshift variant +1 more)	POLR1C-related disorder	GBenign
Select item 3056863	NM_020750.3(XPO5):c.2678-426C>A	POLR1C, XPO5 (G342V)	Single nucleotide variant (missense variant +1 more)	POLR1C-related disorder	GBenign
Select item 3044918	NM_020750.3(XPO5):c.2652T>A (p.Pro884=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	XPO5-related disorder	GLikely benign
Select item 3032485	NM_020750.3(XPO5):c.2649T>C (p.Ile883=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	XPO5-related disorder	GLikely benign
Select item 2057168	NM_020750.3(XPO5):c.2580A>G (p.Gln860=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1539846	NM_020750.3(XPO5):c.2494G>A (p.Val832Ile)	POLR1C, XPO5 (V832I)	Single nucleotide variant (missense variant +2 more)	XPO5-related disorder +1 more	GBenign
Select item 714314	NM_020750.3(XPO5):c.2343-9T>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	XPO5-related disorder +1 more	GBenign
Select item 3058633	NM_020750.3(XPO5):c.2334G>T (p.Ala778=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	XPO5-related disorder	GLikely benign
Select item 3053968	NM_020750.3(XPO5):c.2322C>T (p.Asp774=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	XPO5-related disorder	GLikely benign
Select item 2144528	NM_020750.3(XPO5):c.2181C>T (p.Ser727=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1423330	NM_020750.3(XPO5):c.2090C>T (p.Ala697Val)	LOC126859677, POLR1C +1 more (A697V)	Single nucleotide variant (missense variant +2 more)	XPO5-related disorder +1 more	GUncertain significance
Select item 2042228	NM_020750.3(XPO5):c.1655T>C (p.Val552Ala)	POLR1C, XPO5 (V552A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 2631506	NM_020750.3(XPO5):c.1573-3C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	XPO5-related disorder	GUncertain significance
Select item 3060991	NM_020750.3(XPO5):c.1442-21GT[6]	POLR1C, XPO5	Microsatellite (intron variant)	XPO5-related disorder	GLikely benign
Select item 2062769	NM_020750.3(XPO5):c.1388G>C (p.Gly463Ala)	POLR1C, XPO5 (G463A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2634134	NM_020750.3(XPO5):c.1384G>T (p.Ala462Ser)	POLR1C, XPO5 (A462S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2075317	NM_020750.3(XPO5):c.1157G>A (p.Arg386His)	POLR1C, XPO5 (R386H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2148944	NM_020750.3(XPO5):c.1049G>A (p.Gly350Glu)	POLR1C, XPO5 (G350E)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2713840	NM_020750.3(XPO5):c.912G>A (p.Gln304=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +3 more)	XPO5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3034549	NM_020750.3(XPO5):c.912-9del	POLR1C, XPO5	Deletion (3 prime UTR variant +1 more)	XPO5-related disorder	GLikely benign
Select item 2086352	NM_020750.3(XPO5):c.330C>T (p.Asn110=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2178984	NM_020750.3(XPO5):c.187G>A (p.Val63Ile)	XPO5, POLR1C (V63I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 3030479	NM_020750.3(XPO5):c.123A>G (p.Lys41=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	XPO5-related disorder	GLikely benign
Select item 2967622	NM_020750.3(XPO5):c.54G>C (p.Thr18=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3036327	NM_020750.3(XPO5):c.-5T>A	POLR1C, XPO5	Single nucleotide variant (5 prime UTR variant +2 more)	XPO5-related disorder	GLikely benign

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Items: 37