XPO5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 1227838	NM_020750.3(XPO5):c.*271A>G	POLR1C, XPO5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1178765	NM_020750.3(XPO5):c.*165G>A	POLR1C, XPO5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
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 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 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 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 1987505	NM_020750.3(XPO5):c.3478-15A>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2878329	NM_020750.3(XPO5):c.3478-20T>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317903	NM_020750.3(XPO5):c.3477+164C>T	XPO5, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317562	NM_020750.3(XPO5):c.3477+118dup	POLR1C, XPO5	Duplication (intron variant)	not provided	GLikely benign
Select item 1273091	NM_020750.3(XPO5):c.3477+118del	POLR1C, XPO5	Deletion (intron variant)	not provided	GBenign
Select item 2970298	NM_020750.3(XPO5):c.3477+11C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1413209	NM_020750.3(XPO5):c.3447A>T (p.Gln1149His)	POLR1C, XPO5 (Q1149H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 2746911	NM_020750.3(XPO5):c.3313-4T>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009709	NM_020750.3(XPO5):c.3313-15C>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251623	NM_020750.3(XPO5):c.3312+98del	POLR1C, XPO5	Deletion (intron variant)	not provided	GBenign
Select item 1239542	NM_020750.3(XPO5):c.3312+15_3312+26dup	XPO5, POLR1C	Duplication (intron variant)	not provided	GBenign
Select item 1987643	NM_020750.3(XPO5):c.3312+16_3312+17dup	XPO5, POLR1C	Duplication (intron variant)	not provided	GBenign
Select item 1641742	NM_020750.3(XPO5):c.3312+17T>C	XPO5, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262421	NM_020750.3(XPO5):c.3303C>T (p.Tyr1101=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	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 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 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 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 2169914	NM_020750.3(XPO5):c.3210G>A (p.Thr1070=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2171493	NM_020750.3(XPO5):c.3126G>A (p.Leu1042=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2752435	NM_020750.3(XPO5):c.3093A>C (p.Thr1031=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	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	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 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 1905838	NM_020750.3(XPO5):c.3072T>C (p.Val1024=)	XPO5, POLR1C	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1261887	NM_020750.3(XPO5):c.3067-84dup	POLR1C, XPO5	Duplication (intron variant)	not provided	GBenign
Select item 1274365	NM_020750.3(XPO5):c.3067-102G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1945487	NM_020750.3(XPO5):c.3022A>G (p.Met1008Val)	POLR1C, XPO5 (M1008V)	Single nucleotide variant (missense variant +2 more)	not provided	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 1425436	NM_020750.3(XPO5):c.2985T>A (p.Asp995Glu)	POLR1C, XPO5 (D995E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1245009	NM_020750.3(XPO5):c.2983+273G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281567	NM_020750.3(XPO5):c.2983+207T>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287941	NM_020750.3(XPO5):c.2983+104=	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1463703	NM_020750.3(XPO5):c.2983+9G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045560	NM_020750.3(XPO5):c.2983+7G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	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 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 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	GLikely benign
Select item 2692921	NM_020750.3(XPO5):c.2921-6C>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982605	NM_020750.3(XPO5):c.2921-15G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316920	NM_020750.3(XPO5):c.2921-176G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317843	NM_020750.3(XPO5):c.2921-221G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320596	NM_020750.3(XPO5):c.2920+277G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279009	NM_020750.3(XPO5):c.2920+211C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1908772	NM_020750.3(XPO5):c.2920+19C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2792164	NM_020750.3(XPO5):c.2920+15G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1317519	NM_020750.3(XPO5):c.2823-80A>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267582	NM_020750.3(XPO5):c.2823-175G>C	POLR1C, XPO5	Single nucleotide variant (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 1293888	NM_020750.3(XPO5):c.2775+162A>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2970831	NM_020750.3(XPO5):c.2735T>C (p.Val912Ala)	POLR1C, XPO5 (V912A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1940457	NM_020750.3(XPO5):c.2723A>G (p.Tyr908Cys)	POLR1C, XPO5 (Y908C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1183514	NM_020750.3(XPO5):c.2679T>G (p.Arg893=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1930193	NM_020750.3(XPO5):c.2678-3C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3020340	NM_020750.3(XPO5):c.2678-12T>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1316579	NM_020750.3(XPO5):c.2678-206C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3353452	NM_001318876.2(POLR1C):c.940G>C (p.Ala314Pro)	POLR1C, XPO5 (A314P)	Single nucleotide variant (missense variant +1 more)	POLR1C-related disorder	GUncertain significance
Select item 3055864	NM_001318876.2(POLR1C):c.944C>T (p.Ala315Val)	POLR1C, XPO5 (A315V)	Single nucleotide variant (missense variant +1 more)	POLR1C-related disorder	GBenign
Select item 3056369	NM_001318876.2(POLR1C):c.1024_1025insT (p.Gly342fs)	POLR1C, XPO5 (G342fs)	Insertion (frameshift variant +1 more)	POLR1C-related disorder	GBenign
Select item 3056863	NM_001318876.2(POLR1C):c.1025G>T (p.Gly342Val)	POLR1C, XPO5 (G342V)	Single nucleotide variant (missense variant +1 more)	POLR1C-related disorder	GBenign
Select item 1318177	NM_020750.3(XPO5):c.2677+303G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181112	NM_020750.3(XPO5):c.2677+265dup	POLR1C, XPO5	Duplication (intron variant)	not provided	GBenign
Select item 1317570	NM_020750.3(XPO5):c.2677+265del	POLR1C, XPO5	Deletion (intron variant)	not provided	GLikely benign
Select item 1316223	NM_020750.3(XPO5):c.2677+169T>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249942	NM_020750.3(XPO5):c.2677+61del	POLR1C, XPO5	Deletion (intron variant)	not provided	GBenign
Select item 1245097	NM_020750.3(XPO5):c.2677+45T>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 2057168	NM_020750.3(XPO5):c.2580A>G (p.Gln860=)	XPO5, POLR1C	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1503372	NM_020750.3(XPO5):c.2578C>G (p.Gln860Glu)	POLR1C, XPO5 (Q860E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1253874	NM_020750.3(XPO5):c.2541-111C>T	XPO5, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276649	NM_020750.3(XPO5):c.2540+267G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285900	NM_020750.3(XPO5):c.2540+234_2540+235del	POLR1C, XPO5	Microsatellite (intron variant)	not provided	GBenign
Select item 1267473	NM_020750.3(XPO5):c.2540+202A>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
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

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