"GeneDx"[submitter] AND "POLR1B"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2497901	NM_001282772.2(POLR1B):c.75_99del (p.Tyr27fs)	LOC129934585, POLR1B (Y27fs)	Microsatellite (frameshift variant)	not provided	GBenign
Select item 1261814	NM_019014.6(POLR1B):c.177+35C>G	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251680	NM_019014.6(POLR1B):c.177+82G>A	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267427	NM_019014.6(POLR1B):c.177+146A>C	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3367578	NM_019014.6(POLR1B):c.404G>C (p.Gly135Ala)	POLR1B (G135A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1233209	NM_019014.6(POLR1B):c.492+6G>C	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261231	NM_019014.6(POLR1B):c.492+8C>T	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257076	NM_019014.6(POLR1B):c.492+214G>A	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220927	NM_019014.6(POLR1B):c.493-17A>G	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237706	NM_019014.6(POLR1B):c.625+60dup	POLR1B	Duplication (intron variant)	not provided	GBenign
Select item 1243148	NM_019014.6(POLR1B):c.625+60del	POLR1B	Deletion (intron variant)	not provided	GBenign
Select item 1272934	NM_019014.6(POLR1B):c.625+117del	POLR1B	Deletion (intron variant)	not provided	GBenign
Select item 1231253	NM_019014.6(POLR1B):c.625+105T>C	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258590	NM_019014.6(POLR1B):c.625+139C>T	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260159	NM_019014.6(POLR1B):c.626-25A>T	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178754	NM_019014.6(POLR1B):c.699T>A (p.Thr233=)	POLR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1270777	NM_019014.6(POLR1B):c.762+43C>T	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261808	NM_019014.6(POLR1B):c.762+216C>G	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260138	NM_019014.6(POLR1B):c.884C>T (p.Ser295Leu)	POLR1B (S156L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1249599	NM_019014.6(POLR1B):c.986+45G>A	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233561	NM_019014.6(POLR1B):c.986+78C>A	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253235	NM_019014.6(POLR1B):c.987-13del	POLR1B	Deletion (intron variant)	not provided	GBenign
Select item 3367455	NM_019014.6(POLR1B):c.987-3C>G	POLR1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1257077	NM_019014.6(POLR1B):c.1158+150G>A	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175378	NM_019014.6(POLR1B):c.1159-187C>T	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230242	NM_019014.6(POLR1B):c.1330+145A>C	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279123	NM_019014.6(POLR1B):c.1612+202G>A	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220828	NM_019014.6(POLR1B):c.1613-43T>C	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285661	NM_019014.6(POLR1B):c.1613-32G>A	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234934	NM_019014.6(POLR1B):c.1614G>C (p.Gly538=)	POLR1B (G387A)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1270536	NM_019014.6(POLR1B):c.1746+204A>G	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252565	NM_019014.6(POLR1B):c.1882T>C (p.Leu628=)	POLR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1272588	NM_019014.6(POLR1B):c.1918-42C>G	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3366044	NM_019014.6(POLR1B):c.2039A>G (p.Asn680Ser)	POLR1B (N469S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1268107	NM_019014.6(POLR1B):c.2074+23C>T	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286831	NM_019014.6(POLR1B):c.2526-183G>C	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289864	NM_019014.6(POLR1B):c.2526-153C>G	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282418	NM_019014.6(POLR1B):c.2526-105_2526-102del	POLR1B	Deletion (intron variant)	not provided	GBenign
Select item 1279157	NM_019014.6(POLR1B):c.2526-102del	POLR1B	Deletion (intron variant)	not provided	GBenign
Select item 1222246	NM_019014.6(POLR1B):c.2526-104_2526-102del	POLR1B	Deletion (intron variant)	not provided	GBenign
Select item 1177727	NM_019014.6(POLR1B):c.2526-3T>C	POLR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504300	NM_019014.6(POLR1B):c.2903C>G (p.Ala968Gly)	POLR1B (A1006G +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2630120	NM_019014.6(POLR1B):c.3052C>T (p.Arg1018Ter)	POLR1B (R1018* +6 more)	Single nucleotide variant (nonsense)	POLR1B-related disorder +1 more	GUncertain significance
Select item 1283765	NM_019014.6(POLR1B):c.*104C>T	POLR1B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic

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Items: 47