MYZAP[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	ADAM10, ALDH1A2 +140 more	Copy number loss	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 3099173	NM_001018100.5(MYZAP):c.94C>T (p.Arg32Trp)	GCOM1, MYZAP (R32W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099167	NM_001018100.5(MYZAP):c.214G>C (p.Val72Leu)	GCOM1, MYZAP (V72L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2240048	NM_001018100.5(MYZAP):c.248A>C (p.Gln83Pro)	GCOM1, MYZAP (Q83P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332468	NM_001018100.5(MYZAP):c.354G>A (p.Met118Ile)	GCOM1, MYZAP (M118I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284262	NM_001018100.5(MYZAP):c.382A>G (p.Lys128Glu)	GCOM1, MYZAP (K128E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368171	NM_001018100.5(MYZAP):c.389G>T (p.Arg130Leu)	GCOM1, MYZAP (R130L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346302	NM_001018100.5(MYZAP):c.476G>A (p.Arg159His)	GCOM1, MYZAP (R159H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296772	NM_001018100.5(MYZAP):c.476G>T (p.Arg159Leu)	GCOM1, MYZAP (R159L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099168	NM_001018100.5(MYZAP):c.538G>A (p.Asp180Asn)	GCOM1, MYZAP (D180N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335240	NM_001018100.5(MYZAP):c.556A>G (p.Ser186Gly)	GCOM1, MYZAP (S186G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608879	NM_001018100.5(MYZAP):c.559A>G (p.Asn187Asp)	GCOM1, MYZAP (N187D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099170	NM_001018100.5(MYZAP):c.689C>T (p.Ser230Phe)	GCOM1, MYZAP (S230F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322224	NM_001018100.5(MYZAP):c.809A>G (p.Glu270Gly)	GCOM1, MYZAP (E270G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099171	NM_001018100.5(MYZAP):c.833T>C (p.Ile278Thr)	GCOM1, MYZAP (I278T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099172	NM_001018100.5(MYZAP):c.916A>C (p.Ile306Leu)	GCOM1, MYZAP (I306L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474962	NM_001018100.5(MYZAP):c.1033G>T (p.Ala345Ser)	GCOM1, MYZAP (A345S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340807	NM_001018100.5(MYZAP):c.1049G>A (p.Arg350His)	GCOM1, MYZAP (R350H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099148	NM_001018100.5(MYZAP):c.1054C>T (p.Arg352Trp)	GCOM1, MYZAP (R352W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099149	NM_001018100.5(MYZAP):c.1120A>C (p.Ile374Leu)	GCOM1, MYZAP (I374L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2599015	NM_001018100.5(MYZAP):c.1150A>G (p.Lys384Glu)	GCOM1, MYZAP (K384E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2247575	NM_001018100.5(MYZAP):c.1177G>A (p.Glu393Lys)	GCOM1, MYZAP (E393K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2471408	NM_001018100.5(MYZAP):c.1210G>A (p.Glu404Lys)	GCOM1, MYZAP (E376K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476374	NM_001018100.5(MYZAP):c.1220G>C (p.Ser407Thr)	GCOM1, MYZAP (S379T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099150	NM_001018100.5(MYZAP):c.1254G>C (p.Lys418Asn)	GCOM1, MYZAP (K390N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361349	NM_001018100.5(MYZAP):c.1258G>A (p.Glu420Lys)	GCOM1, MYZAP (E420K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513018	NM_001018100.5(MYZAP):c.1298T>C (p.Leu433Pro)	GCOM1, MYZAP (L433P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099151	NM_001018100.5(MYZAP):c.1301C>G (p.Pro434Arg)	GCOM1, MYZAP (P434R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	WDR72, ZNF280D +35 more	Copy number loss	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +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 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	AAGAB, ABHD17C +523 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)	AAGAB, ABHD17C +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	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 45