ClinVar for Gene (Select 145781) - ClinVar

Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281082	NM_001018090.6(GCOM1):c.315A>C (p.Lys105Asn)	GCOM1, MYZAP (K105N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3281081	NM_001018090.6(GCOM1):c.302T>A (p.Met101Lys)	GCOM1, MYZAP (M101K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3281080	NM_001018090.6(GCOM1):c.535G>A (p.Val179Met)	GCOM1, MYZAP (V179M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3281079	NM_001018090.6(GCOM1):c.47C>T (p.Ala16Val)	GCOM1, MYZAP (A16V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3281078	NM_001018090.6(GCOM1):c.685T>C (p.Ser229Pro)	GCOM1, MYZAP (S229P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3252117	NM_001018100.5(MYZAP):c.349C>T (p.Arg117Ter)	GCOM1, MYZAP (R117*)	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy, dilated, 2K	GPathogenic
Select item 3252115	NM_001018100.5(MYZAP):c.1150A>T (p.Lys384Ter)	GCOM1, MYZAP	Single nucleotide variant (nonsense +2 more)	Cardiomyopathy, dilated, 2K	GPathogenic
Select item 3252114	NM_001018100.5(MYZAP):c.933+1G>A	GCOM1, MYZAP	Single nucleotide variant (splice donor variant)	Cardiomyopathy, dilated, 2K	GPathogenic
Select item 3252113	NM_001018100.5(MYZAP):c.388C>T (p.Arg130Ter)	GCOM1, MYZAP	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy, dilated, 2K	GPathogenic
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 3099173	NM_001018090.6(GCOM1):c.94C>T (p.Arg32Trp)	GCOM1, MYZAP (R32W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099172	NM_001018090.6(GCOM1):c.916A>C (p.Ile306Leu)	GCOM1, MYZAP (I306L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099171	NM_001018090.6(GCOM1):c.833T>C (p.Ile278Thr)	GCOM1, MYZAP (I278T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099170	NM_001018090.6(GCOM1):c.689C>T (p.Ser230Phe)	GCOM1, MYZAP (S230F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099168	NM_001018090.6(GCOM1):c.538G>A (p.Asp180Asn)	GCOM1, MYZAP (D180N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099167	NM_001018090.6(GCOM1):c.214G>C (p.Val72Leu)	GCOM1, MYZAP (V72L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 3099151	NM_001018090.6(GCOM1):c.1301C>G (p.Pro434Arg)	GCOM1, MYZAP (P434R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099150	NM_001018090.6(GCOM1):c.1254G>C (p.Lys418Asn)	GCOM1, MYZAP (K390N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099149	NM_001018090.6(GCOM1):c.1120A>C (p.Ile374Leu)	GCOM1, MYZAP (I374L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3099148	NM_001018090.6(GCOM1):c.1054C>T (p.Arg352Trp)	GCOM1, MYZAP (R352W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2608879	NM_001018090.6(GCOM1):c.559A>G (p.Asn187Asp)	GCOM1, MYZAP (N187D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2599015	NM_001018090.6(GCOM1):c.1150A>G (p.Lys384Glu)	GCOM1, MYZAP (K384E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 2513018	NM_001018090.6(GCOM1):c.1298T>C (p.Leu433Pro)	GCOM1, MYZAP (L433P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2476374	NM_001018090.6(GCOM1):c.1220G>C (p.Ser407Thr)	GCOM1, MYZAP (S379T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474962	NM_001018090.6(GCOM1):c.1033G>T (p.Ala345Ser)	GCOM1, MYZAP (A345S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2471408	NM_001018090.6(GCOM1):c.1210G>A (p.Glu404Lys)	GCOM1, MYZAP (E376K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2368171	NM_001018090.6(GCOM1):c.389G>T (p.Arg130Leu)	GCOM1, MYZAP (R130L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2361349	NM_001018090.6(GCOM1):c.1258G>A (p.Glu420Lys)	GCOM1, MYZAP (E420K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2346302	NM_001018090.6(GCOM1):c.476G>A (p.Arg159His)	GCOM1, MYZAP (R159H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2340807	NM_001018090.6(GCOM1):c.1049G>A (p.Arg350His)	GCOM1, MYZAP (R350H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335240	NM_001018090.6(GCOM1):c.556A>G (p.Ser186Gly)	GCOM1, MYZAP (S186G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332468	NM_001018090.6(GCOM1):c.354G>A (p.Met118Ile)	GCOM1, MYZAP (M118I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322224	NM_001018090.6(GCOM1):c.809A>G (p.Glu270Gly)	GCOM1, MYZAP (E270G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296772	NM_001018090.6(GCOM1):c.476G>T (p.Arg159Leu)	GCOM1, MYZAP (R159L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284262	NM_001018090.6(GCOM1):c.382A>G (p.Lys128Glu)	GCOM1, MYZAP (K128E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2247575	NM_001018090.6(GCOM1):c.1177G>A (p.Glu393Lys)	GCOM1, MYZAP (E393K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2240048	NM_001018090.6(GCOM1):c.248A>C (p.Gln83Pro)	GCOM1, MYZAP (Q83P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 523392	NM_001018100.5(MYZAP):c.236C>A (p.Ser79Ter)	GCOM1, MYZAP (S79*)	Single nucleotide variant (nonsense +1 more)	Primary dilated cardiomyopathy	GLikely pathogenic
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: 85