ClinVar for Gene (Select 5431) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	DDX60L, MTHFD2L +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 2654777	NM_000938.3(POLR2B):c.1677A>C (p.Ala559=)	POLR2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
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 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 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 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 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 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 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	LOC110120745, LOC129992610 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 979470	GRCh37/hg19 4q12(chr4:57588857-57872994)x3	POLR2B, SPINK2 +2 more	Copy number gain	not provided	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 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)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	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 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	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 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 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 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 40