"GeneDx"[submitter] AND "POLH"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 1313195	NM_006502.3(POLH):c.-4-3C>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1225992	NM_006502.3(POLH):c.137+72GTG[8]	POLR1C, POLH	Microsatellite (intron variant)	not provided	GBenign
Select item 1203127	NM_006502.3(POLH):c.137+71T>G	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293861	NM_006502.3(POLH):c.137+275G>A	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186628	NM_006502.3(POLH):c.138-205C>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274970	NM_006502.3(POLH):c.138-186G>A	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293882	NM_006502.3(POLH):c.273-175T>C	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222307	NM_006502.3(POLH):c.273-32T>C	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780623	NM_006502.3(POLH):c.447G>T (p.Gly149=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1183684	NM_006502.3(POLH):c.491-178G>A	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306276	NM_006502.3(POLH):c.545A>G (p.Asn182Ser)	POLH, POLR1C (N182S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 259990	NM_006502.3(POLH):c.626G>T (p.Gly209Val)	POLH, POLR1C (G209V +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type +3 more	GBenign/Likely benign
Select item 1211699	NM_006502.3(POLH):c.660+94C>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273864	NM_006502.3(POLH):c.661-336T>C	POLR1C, POLH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236218	NM_006502.3(POLH):c.764+152C>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178240	NM_006502.3(POLH):c.764+219C>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228031	NM_006502.3(POLH):c.765-248C>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231406	NM_006502.3(POLH):c.765-224T>C	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268076	NM_006502.3(POLH):c.765-74A>G	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271550	NM_006502.3(POLH):c.765-38G>A	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272755	NM_006502.3(POLH):c.884+21A>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228270	NM_006502.3(POLH):c.885-207A>G	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199785	NM_006502.3(POLH):c.885-136C>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 356904	NM_006502.3(POLH):c.986C>T (p.Thr329Ile)	POLH, POLR1C (T329I +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type +1 more	GBenign/Likely benign
Select item 1692918	NM_006502.3(POLH):c.1000C>G (p.Arg334Gly)	POLH, POLR1C (R210G +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +2 more	GConflicting classifications of pathogenicity
Select item 1181036	NM_006502.3(POLH):c.1009-41G>A	POLR1C, POLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258371	NM_006502.3(POLH):c.1074+178T>G	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207530	NM_006502.3(POLH):c.1074+261C>T	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197500	NM_006502.3(POLH):c.1075-281del	POLH, POLR1C	Deletion (intron variant)	not provided	GLikely benign
Select item 1305654	NM_006502.3(POLH):c.1111C>T (p.Arg371Cys)	POLR1C, POLH (R247C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1264776	NM_006502.3(POLH):c.1244+206TTA[2]	POLH, POLR1C	Microsatellite (intron variant)	not provided	GBenign
Select item 1274658	NM_006502.3(POLH):c.1244+270A>G	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265308	NM_006502.3(POLH):c.1245-272G>A	POLH, POLR1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449225	NM_006502.3(POLH):c.1318_1322del (p.Ile440fs)	POLH, POLR1C (I316fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 259987	NM_006502.3(POLH):c.1434G>A (p.Thr478=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 911796	NM_006502.3(POLH):c.1572A>C (p.Gln524His)	POLH, POLR1C (Q400H +1 more)	Single nucleotide variant (missense variant +1 more)	POLH-related condition +3 more	GLikely benign
Select item 259988	NM_006502.3(POLH):c.1783A>G (p.Met595Val)	POLH, POLR1C (M595V +1 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum variant type +2 more	GBenign/Likely benign
Select item 259989	NM_006502.3(POLH):c.1939A>T (p.Met647Leu)	POLH, POLR1C (M647L +1 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum variant type +2 more	GBenign
Select item 356916	NM_006502.3(POLH):c.2028C>T (p.Ala676=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +2 more)	Xeroderma pigmentosum variant type +2 more	GBenign/Likely benign
Select item 908834	NM_006502.3(POLH):c.2031A>T (p.Val677=)	POLH, POLR1C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356917	NM_006502.3(POLH):c.*50A>G	POLR1C, POLH	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum variant type +1 more	GBenign
Select item 356918	NM_006502.3(POLH):c.*290C>T	POLR1C, POLH	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum variant type +1 more	GBenign

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Items: 44