ClinVar for Gene (Select 81488) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216555	NM_015532.5(POLR2M):c.850C>T (p.His284Tyr)	GCOM1, POLR2M (H284Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216554	NM_015532.5(POLR2M):c.755A>G (p.Asn252Ser)	GCOM1, POLR2M (N252S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216552	NM_015532.5(POLR2M):c.550A>G (p.Thr184Ala)	GCOM1, POLR2M (T184A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216550	NM_015532.5(POLR2M):c.292A>G (p.Lys98Glu)	GCOM1, POLR2M (K98E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216549	NM_015532.5(POLR2M):c.287C>T (p.Thr96Ile)	GCOM1, POLR2M (T493I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216548	NM_015532.5(POLR2M):c.230C>T (p.Pro77Leu)	GCOM1, POLR2M (P474L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216547	NM_015532.5(POLR2M):c.16C>G (p.Arg6Gly)	GCOM1, POLR2M (R6G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099166	NM_001018090.6(GCOM1):c.1642G>A (p.Asp548Asn)	GCOM1, POLR2M (D209N +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099165	NM_001018090.6(GCOM1):c.1624G>A (p.Asp542Asn)	GCOM1, POLR2M (D360N +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099164	NM_001018090.6(GCOM1):c.1598G>A (p.Gly533Glu)	GCOM1, POLR2M (G194E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099163	NM_001018090.6(GCOM1):c.1568G>A (p.Arg523Gln)	GCOM1, POLR2M (R341Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3099162	NM_001018090.6(GCOM1):c.1567C>T (p.Arg523Trp)	GCOM1, POLR2M (R738W +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099161	NM_001018090.6(GCOM1):c.1534C>G (p.Gln512Glu)	GCOM1, POLR2M (Q727E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099160	NM_001018090.6(GCOM1):c.1463T>C (p.Ile488Thr)	GCOM1, POLR2M (I488T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099159	NM_001018090.6(GCOM1):c.1437C>G (p.His479Gln)	GCOM1, POLR2M (H479Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099158	NM_001018090.6(GCOM1):c.1382G>A (p.Arg461His)	GCOM1, POLR2M (R676H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099157	NM_001018090.6(GCOM1):c.1379G>A (p.Arg460Gln)	GCOM1, POLR2M (R675Q +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099156	NM_001018090.6(GCOM1):c.1371A>C (p.Glu457Asp)	GCOM1, POLR2M (E672D +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099155	NM_001018090.6(GCOM1):c.1360A>G (p.Ile454Val)	GCOM1, POLR2M (I272V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3099154	NM_001018090.6(GCOM1):c.1352G>A (p.Gly451Glu)	GCOM1, POLR2M (G269E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3099153	NM_001018090.6(GCOM1):c.1349G>A (p.Ser450Asn)	GCOM1, POLR2M (S450N +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099152	NM_001018090.6(GCOM1):c.1309C>G (p.Pro437Ala)	GCOM1, POLR2M (P652A +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2610358	NM_015532.5(POLR2M):c.100C>G (p.Leu34Val)	GCOM1, POLR2M (L34V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607917	NM_001018090.6(GCOM1):c.1524G>A (p.Lys508=)	GCOM1, POLR2M (S440N)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2604462	NM_015532.5(POLR2M):c.711G>A (p.Met237Ile)	GCOM1, POLR2M (M237I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598196	NM_001018090.6(GCOM1):c.1533G>A (p.Ala511=)	GCOM1, POLR2M (R443H)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2597827	NM_015532.5(POLR2M):c.526C>T (p.Arg176Cys)	GCOM1, POLR2M (R176C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537065	NM_015532.5(POLR2M):c.25G>C (p.Glu9Gln)	GCOM1, POLR2M (E9Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535916	NM_015532.5(POLR2M):c.184A>G (p.Ile62Val)	GCOM1, POLR2M (I459V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2494409	NM_015532.5(POLR2M):c.678G>T (p.Glu226Asp)	GCOM1, POLR2M (E226D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472513	NM_015532.5(POLR2M):c.691T>C (p.Tyr231His)	GCOM1, POLR2M (Y231H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455353	NM_015532.5(POLR2M):c.542C>T (p.Ala181Val)	GCOM1, POLR2M (A181V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365116	NM_015532.5(POLR2M):c.503C>G (p.Ala168Gly)	GCOM1, POLR2M (A168G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356322	NM_001018090.6(GCOM1):c.1448C>T (p.Thr483Met)	GCOM1, POLR2M (T698M +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2347354	NM_015532.5(POLR2M):c.87G>T (p.Lys29Asn)	GCOM1, POLR2M (K29N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344436	NM_015532.5(POLR2M):c.605C>T (p.Ala202Val)	GCOM1, POLR2M (A599V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284155	NM_015532.5(POLR2M):c.509A>G (p.Glu170Gly)	GCOM1, POLR2M (E170G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2276447	NM_015532.5(POLR2M):c.188C>T (p.Ala63Val)	GCOM1, POLR2M (A63V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204597	NM_015532.5(POLR2M):c.637G>A (p.Ala213Thr)	GCOM1, POLR2M (A213T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1275460	NM_015532.5(POLR2M):c.113+151G>C	GCOM1, POLR2M	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233236	NM_015532.5(POLR2M):c.183C>T (p.Ala61=)	GCOM1, POLR2M	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1231145	NM_015532.5(POLR2M):c.113+322C>G	GCOM1, POLR2M	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183428	NM_015532.5(POLR2M):c.963+37G>A	GCOM1, POLR2M	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980520	GRCh37/hg19 15q21.3(chr15:57414627-58960510)x3	ADAM10, ALDH1A2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 816516	GRCh37/hg19 15q21.3(chr15:57350251-58025960)x3	CGNL1, TCF12 +2 more	Copy number gain	See cases	GLikely benign
Select item 790696	NM_015532.5(POLR2M):c.835C>T (p.Arg279Cys)	GCOM1, POLR2M (R461C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 788145	NM_015532.5(POLR2M):c.1084G>A (p.Asp362Asn)	GCOM1, POLR2M (D544N +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564209	GRCh37/hg19 15q21.3(chr15:57608623-59029582)x3	ADAM10, ALDH1A2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442376	GRCh37/hg19 15q21.3(chr15:57518653-58974175)x3	ADAM10, ALDH1A2 +6 more	Copy number gain	See cases	GLikely pathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	LOC126862145, LOC126862146 +140 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 62