"GeneDx"[submitter] AND "POLR1C"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1216052	NC_000006.12:g.43516794G>A	LOC129996517, POLR1C +1 more (A5V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1216411	NC_000006.12:g.43516856G>T	YIPF3, LOC129996517 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1201016	NC_000006.12:g.43516856G>A	LOC129996517, POLR1C +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1217870	NC_000006.12:g.43516878C>T	LOC129996517, POLR1C +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1281294	NC_000006.12:g.43516905G>A	LOC129996517, POLR1C +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2580819	NC_000006.12:g.43516988_43516990dup	LOC129996517, POLR1C	Duplication	not provided	GLikely benign
Select item 909505	NM_203290.4(POLR1C):c.-15G>A	LOC129996517, POLR1C	Single nucleotide variant (5 prime UTR variant)	Treacher Collins syndrome 3 +1 more	GBenign/Likely benign
Select item 1200842	NM_203290.4(POLR1C):c.65G>A (p.Arg22His)	LOC129996517, POLR1C (R22H)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3 +4 more	GUncertain significance
Select item 280457	NM_203290.4(POLR1C):c.70-1G>A	POLR1C	Single nucleotide variant (splice acceptor variant)	Hypomyelinating leukodystrophy 11 +1 more	GPathogenic
Select item 1315278	NM_203290.4(POLR1C):c.98A>G (p.Tyr33Cys)	POLR1C (Y33C)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +1 more	GUncertain significance
Select item 1202873	NM_203290.4(POLR1C):c.116C>T (p.Ala39Val)	POLR1C (A39V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1277590	NM_203290.4(POLR1C):c.141+168C>T	POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 356872	NM_203290.4(POLR1C):c.193A>G (p.Met65Val)	POLR1C (M65V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 2504854	NM_203290.4(POLR1C):c.203T>C (p.Ile68Thr)	POLR1C (I68T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1278545	NM_203290.4(POLR1C):c.250-81A>C	POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308110	NM_203290.4(POLR1C):c.293C>T (p.Thr98Ile)	POLR1C (T98I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635141	NM_203290.4(POLR1C):c.313A>T (p.Ile105Phe)	POLR1C (I105F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 635142	NM_203290.4(POLR1C):c.322C>T (p.His108Tyr)	POLR1C (H108Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1187400	NM_203290.4(POLR1C):c.383-37G>A	POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 635145	NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp)	POLR1C (G132D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1200831	NM_203290.4(POLR1C):c.400G>T (p.Glu134Ter)	POLR1C (E134*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1913889	NM_203290.4(POLR1C):c.534G>C (p.Leu178=)	POLR1C	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1633534	NM_203290.4(POLR1C):c.550C>G (p.Leu184Val)	POLR1C (L184V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1902781	NM_203290.4(POLR1C):c.607C>T (p.Arg203Trp)	POLR1C (R203W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356878	NM_203290.4(POLR1C):c.634A>G (p.Met212Val)	POLR1C (M212V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 356879	NM_203290.4(POLR1C):c.656-9C>T	POLR1C	Single nucleotide variant (intron variant)	Treacher Collins syndrome 3 +1 more	GBenign
Select item 280857	NM_203290.4(POLR1C):c.699C>G (p.Tyr233Ter)	POLR1C (Y233*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1281295	NM_203290.4(POLR1C):c.805+25del	POLR1C	Deletion (intron variant)	not provided	GBenign
Select item 30815	NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp)	POLR1C (R279W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 30811	NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)	POLR1C (R279Q)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3 +4 more	GPathogenic/Likely pathogenic
Select item 204590	NM_203290.4(POLR1C):c.880AAG[1] (p.Lys295del)	POLR1C (K295del)	Microsatellite (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1308109	NM_203290.4(POLR1C):c.908G>A (p.Arg303Gln)	POLR1C (R303Q)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +1 more	GConflicting classifications of pathogenicity
Select item 635151	NM_203290.4(POLR1C):c.916_920del (p.Tyr306fs)	POLR1C (Y306fs)	Deletion (frameshift variant)	Treacher Collins syndrome 3 +2 more	GPathogenic/Likely pathogenic
Select item 1217416	NM_203290.4(POLR1C):c.922+50C>T	POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207588	NM_203290.4(POLR1C):c.923-26G>T	POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 356882	NM_203290.4(POLR1C):c.*30T>C	POLR1C	Single nucleotide variant (3 prime UTR variant +1 more)	Treacher Collins syndrome 3 +1 more	GConflicting classifications of pathogenicity
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 1317903	NM_020750.3(XPO5):c.3477+164C>T	POLR1C, XPO5	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 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	POLR1C, XPO5	Duplication (intron variant)	not provided	GBenign
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 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 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 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	XPO5, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320596	NM_020750.3(XPO5):c.2920+277G>A	XPO5, POLR1C	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 1317519	NM_020750.3(XPO5):c.2823-80A>T	XPO5, POLR1C	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 1293888	NM_020750.3(XPO5):c.2775+162A>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
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 1316579	NM_020750.3(XPO5):c.2678-206C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318177	NM_020750.3(XPO5):c.2677+303G>A	XPO5, POLR1C	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 1253874	NM_020750.3(XPO5):c.2541-111C>T	POLR1C, XPO5	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 1318038	NM_020750.3(XPO5):c.2444-14G>C	XPO5, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1316593	NM_020750.3(XPO5):c.2444-189G>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224260	NM_020750.3(XPO5):c.2444-223del	POLR1C, XPO5	Deletion (intron variant)	not provided	GBenign
Select item 1269945	NM_020750.3(XPO5):c.2444-232A>G	XPO5, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317991	NM_020750.3(XPO5):c.2443+345T>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236345	NM_020750.3(XPO5):c.2443+64dup	POLR1C, XPO5	Duplication (intron variant)	not provided	GBenign
Select item 769314	NM_020750.3(XPO5):c.2424G>A (p.Ala808=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1318048	NM_020750.3(XPO5):c.2343-57C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240726	NM_020750.3(XPO5):c.2343-89A>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275248	NM_020750.3(XPO5):c.2343-107G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316589	NM_020750.3(XPO5):c.2343-246C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260586	NM_020750.3(XPO5):c.2342+262A>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244988	NM_020750.3(XPO5):c.2161-39dup	POLR1C, XPO5	Duplication (intron variant)	not provided	GBenign
Select item 1180045	NM_020750.3(XPO5):c.2161-39del	POLR1C, XPO5	Deletion (intron variant)	not provided	GBenign
Select item 1316607	NM_020750.3(XPO5):c.2161-202T>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316597	NM_020750.3(XPO5):c.2160+249A>T	LOC126859677, POLR1C +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1278585	NM_020750.3(XPO5):c.2060+241A>G	LOC126859677, POLR1C +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245474	NM_020750.3(XPO5):c.2060+26C>T	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281765	NM_020750.3(XPO5):c.1861-31A>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316697	NM_020750.3(XPO5):c.1861-191C>G	XPO5, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318042	NM_020750.3(XPO5):c.1860+132G>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316221	NM_020750.3(XPO5):c.1860+128C>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278299	NM_020750.3(XPO5):c.1770+104G>A	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316922	NM_020750.3(XPO5):c.1729-98G>A	XPO5, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286050	NM_020750.3(XPO5):c.1728+178C>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316590	NM_020750.3(XPO5):c.1589A>G (p.Asp530Gly)	POLR1C, XPO5 (D530G)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 1316592	NM_020750.3(XPO5):c.1573-281A>C	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289185	NM_020750.3(XPO5):c.1572+223T>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318369	NM_020750.3(XPO5):c.1572+118A>G	POLR1C, XPO5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288328	NM_020750.3(XPO5):c.1425T>C (p.Asp475=)	POLR1C, XPO5	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign

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