ClinVar for Gene (Select 57510) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 3191248	NM_020750.3(XPO5):c.716C>T (p.Ser239Phe)	POLR1C, XPO5 (S239F)	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 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 3191244	NM_020750.3(XPO5):c.262G>A (p.Val88Met)	POLR1C, XPO5 (V88M)	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 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 3060991	NM_020750.3(XPO5):c.1442-21GT[6]	POLR1C, XPO5	Microsatellite (intron variant)	XPO5-related disorder	GLikely benign
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 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 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 3056369	NM_020750.3(XPO5):c.2678-426_2678-425insA	POLR1C, XPO5 (G342fs)	Insertion (frameshift variant +1 more)	POLR1C-related disorder	GBenign
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 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 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 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 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 3036327	NM_020750.3(XPO5):c.-5T>A	POLR1C, XPO5	Single nucleotide variant (5 prime UTR variant +2 more)	XPO5-related disorder	GLikely benign
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 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 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 3022838	NM_020750.3(XPO5):c.1410A>G (p.Leu470=)	POLR1C, XPO5	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3020340	NM_020750.3(XPO5):c.2678-12T>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2996412	NM_020750.3(XPO5):c.1861-16dup	POLR1C, XPO5	Duplication (intron variant)	not provided	GBenign
Select item 2986851	NM_020750.3(XPO5):c.2822+16C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985540	NM_020750.3(XPO5):c.1013G>C (p.Gly338Ala)	POLR1C, XPO5 (G338A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2982605	NM_020750.3(XPO5):c.2921-15G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980449	NM_020750.3(XPO5):c.177A>G (p.Gln59=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2974427	NM_020750.3(XPO5):c.1729-16T>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2970831	NM_020750.3(XPO5):c.2735T>C (p.Val912Ala)	XPO5, POLR1C (V912A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2970298	NM_020750.3(XPO5):c.3477+11C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	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 2964131	NM_020750.3(XPO5):c.3216T>C (p.Leu1072=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2963605	NM_020750.3(XPO5):c.3074G>C (p.Cys1025Ser)	POLR1C, XPO5 (C1025S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2960744	NM_020750.3(XPO5):c.2444-4G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958927	NM_020750.3(XPO5):c.228-3C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2910593	NM_020750.3(XPO5):c.649-8T>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2909013	NM_020750.3(XPO5):c.3286C>T (p.Leu1096=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2903776	NM_020750.3(XPO5):c.1500C>T (p.Phe500=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2899705	NM_020750.3(XPO5):c.3080C>T (p.Ala1027Val)	POLR1C, XPO5 (A1027V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2878329	NM_020750.3(XPO5):c.3478-20T>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874458	NM_020750.3(XPO5):c.797G>A (p.Gly266Glu)	POLR1C, XPO5 (G266E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2869866	NM_020750.3(XPO5):c.2851C>T (p.Pro951Ser)	POLR1C, XPO5 (P951S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2868558	NM_020750.3(XPO5):c.3484T>C (p.Leu1162=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2864532	NM_020750.3(XPO5):c.1998G>A (p.Lys666=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2860439	NM_020750.3(XPO5):c.2375T>G (p.Leu792Arg)	XPO5, POLR1C (L792R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2819746	NM_020750.3(XPO5):c.2156C>G (p.Ala719Gly)	LOC126859677, POLR1C +1 more (A719G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2813218	NM_020750.3(XPO5):c.3514A>G (p.Ile1172Val)	POLR1C, XPO5 (I1172V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2813127	NM_020750.3(XPO5):c.2342+6T>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2800025	NM_020750.3(XPO5):c.2367A>G (p.Pro789=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2795814	NM_020750.3(XPO5):c.1285G>A (p.Asp429Asn)	POLR1C, XPO5 (D429N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2792164	NM_020750.3(XPO5):c.2920+15G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786698	NM_020750.3(XPO5):c.681A>C (p.Ala227=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2784612	NM_020750.3(XPO5):c.2443+10G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778073	NM_020750.3(XPO5):c.1432T>G (p.Ser478Ala)	POLR1C, XPO5 (S478A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2754937	NM_020750.3(XPO5):c.234G>C (p.Arg78=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2754598	NM_020750.3(XPO5):c.3416A>C (p.Gln1139Pro)	POLR1C, XPO5 (Q1139P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2752435	NM_020750.3(XPO5):c.3093A>C (p.Thr1031=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2746911	NM_020750.3(XPO5):c.3313-4T>A	XPO5, POLR1C	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2724123	NM_020750.3(XPO5):c.1095+9T>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722573	NM_020750.3(XPO5):c.625A>T (p.Thr209Ser)	POLR1C, XPO5 (T209S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2713840	NM_020750.3(XPO5):c.912G>A (p.Gln304=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2713463	NM_020750.3(XPO5):c.2976T>C (p.Asp992=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2705782	NM_020750.3(XPO5):c.1269G>A (p.Arg423=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2701371	NM_020750.3(XPO5):c.3333A>G (p.Ile1111Met)	POLR1C, XPO5 (I1111M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2692921	NM_020750.3(XPO5):c.2921-6C>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2656607	NM_020750.3(XPO5):c.1290G>A (p.Glu430=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2656606	NM_020750.3(XPO5):c.1932G>A (p.Glu644=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2656605	NM_020750.3(XPO5):c.2982C>T (p.Asp994=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	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 2631506	NM_020750.3(XPO5):c.1573-3C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	XPO5-related disorder	GUncertain significance
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 2621959	NM_020750.3(XPO5):c.313A>G (p.Ile105Val)	POLR1C, XPO5 (I105V)	Single nucleotide variant (missense variant +2 more)	not specified	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 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 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 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 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 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 2523930	NM_020750.3(XPO5):c.817A>G (p.Ile273Val)	POLR1C, XPO5 (I273V)	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 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 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 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 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 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	KLC4, POLR1C +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2417310	NM_020750.3(XPO5):c.2668C>T (p.Pro890Ser)	POLR1C, XPO5 (P890S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2416665	NM_020750.3(XPO5):c.1505A>C (p.Gln502Pro)	POLR1C, XPO5 (Q502P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2415279	NM_020750.3(XPO5):c.2238T>C (p.Ala746=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2381649	NM_020750.3(XPO5):c.673G>A (p.Val225Ile)	POLR1C, XPO5 (V225I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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