POLR2B[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 148576	GRCh38/hg38 4q12(chr4:56248102-57218522)x4	AASDH, ARL9 +39 more	Copy number gain	See cases	GUncertain significance
Select item 2332865	NM_000938.3(POLR2B):c.56C>T (p.Pro19Leu)	POLR2B (P12L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308803	NM_000938.3(POLR2B):c.184G>A (p.Ala62Thr)	POLR2B (A55T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216518	NM_000938.3(POLR2B):c.221C>T (p.Ala74Val)	POLR2B (A74V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515668	NM_000938.3(POLR2B):c.1312C>T (p.Arg438Trp)	POLR2B (R438W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235768	NM_000938.3(POLR2B):c.1592A>T (p.Tyr531Phe)	POLR2B (Y456F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2305119	NM_000938.3(POLR2B):c.1604G>C (p.Gly535Ala)	POLR2B (G528A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216515	NM_000938.3(POLR2B):c.1667T>C (p.Ile556Thr)	POLR2B (I556T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654777	NM_000938.3(POLR2B):c.1677A>C (p.Ala559=)	POLR2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3308804	NM_000938.3(POLR2B):c.1679C>T (p.Ala560Val)	POLR2B (A553V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216516	NM_000938.3(POLR2B):c.1736A>T (p.Asp579Val)	POLR2B (D579V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556257	NM_000938.3(POLR2B):c.1910A>G (p.Lys637Arg)	POLR2B (K562R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216517	NM_000938.3(POLR2B):c.2086T>C (p.Cys696Arg)	POLR2B (C689R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916568	NM_000938.3(POLR2B):c.2123C>T (p.Ala708Val)	POLR2B (A633V +2 more)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 3216519	NM_000938.3(POLR2B):c.2232G>A (p.Met744Ile)	POLR2B (M737I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615808	NM_000938.3(POLR2B):c.2335A>G (p.Ile779Val)	POLR2B (I779V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216520	NM_000938.3(POLR2B):c.2497A>G (p.Thr833Ala)	LOC123477747, POLR2B (T833A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218175	NM_000938.3(POLR2B):c.2505A>T (p.Glu835Asp)	LOC123477747, POLR2B (E760D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216522	NM_000938.3(POLR2B):c.2756G>A (p.Cys919Tyr)	POLR2B (C912Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308802	NM_000938.3(POLR2B):c.2771G>A (p.Arg924His)	POLR2B (R924H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216523	NM_000938.3(POLR2B):c.2849G>A (p.Arg950Lys)	POLR2B (R943K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216524	NM_000938.3(POLR2B):c.3422G>A (p.Arg1141His)	POLR2B (R1066H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216525	NM_000938.3(POLR2B):c.3449G>A (p.Arg1150Gln)	IGFBP7, POLR2B (R1143Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 979470	GRCh37/hg19 4q12(chr4:57588857-57872994)x3	POLR2B, SPINK2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814558	GRCh37/hg19 4q12(chr4:57067953-57957651)x3	SRP72, SPINK2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 43