ClinVar for Gene (Select 7593) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2650603	NM_198055.2(MZF1):c.1584G>A (p.Leu528=)	MZF1, MZF1-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2614929	NM_198055.2(MZF1):c.812G>T (p.Gly271Val)	MZF1, MZF1-AS1 (G271V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608037	NM_198055.2(MZF1):c.1333T>A (p.Cys445Ser)	MZF1, MZF1-AS1 (C445S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604150	NM_198055.2(MZF1):c.323G>C (p.Arg108Pro)	MZF1, MZF1-AS1 (R108P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603692	NM_198055.2(MZF1):c.1615C>T (p.Arg539Trp)	MZF1, MZF1-AS1 (R539W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603691	NM_198055.2(MZF1):c.1614G>T (p.Glu538Asp)	MZF1, MZF1-AS1 (E538D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598765	NM_198055.2(MZF1):c.1976G>A (p.Gly659Asp)	MZF1, MZF1-AS1 (G659D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590856	NM_198055.2(MZF1):c.1455T>G (p.Phe485Leu)	MZF1, MZF1-AS1 (F485L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547763	NM_198055.2(MZF1):c.2051C>A (p.Pro684His)	MZF1, MZF1-AS1 (P684H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534294	NM_198055.2(MZF1):c.1708G>T (p.Ala570Ser)	MZF1, MZF1-AS1 (A570S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531330	NM_198055.2(MZF1):c.1427C>T (p.Pro476Leu)	MZF1, MZF1-AS1 (P476L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516704	NM_198055.2(MZF1):c.471A>C (p.Glu157Asp)	MZF1, MZF1-AS1 (E157D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512956	NM_198055.2(MZF1):c.1064G>A (p.Gly355Asp)	MZF1, MZF1-AS1 (A274T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510779	NM_198055.2(MZF1):c.1907A>T (p.Gln636Leu)	MZF1, MZF1-AS1 (Q636L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487299	NM_198055.2(MZF1):c.1344C>G (p.Ser448Arg)	MZF1, MZF1-AS1 (S448R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457145	NM_198055.2(MZF1):c.2149C>G (p.Arg717Gly)	MZF1, MZF1-AS1 (R717G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399098	NM_198055.2(MZF1):c.1037C>T (p.Pro346Leu)	MZF1, MZF1-AS1 (P346L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398392	NM_198055.2(MZF1):c.2188G>C (p.Val730Leu)	MZF1, MZF1-AS1 (V730L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382405	NM_198055.2(MZF1):c.1303A>G (p.Thr435Ala)	MZF1-AS1, MZF1 (T435A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379303	NM_198055.2(MZF1):c.1730C>A (p.Ala577Asp)	MZF1, MZF1-AS1 (A577D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374430	NM_198055.2(MZF1):c.1540G>C (p.Gly514Arg)	MZF1-AS1, MZF1 (G514R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373984	NM_198055.2(MZF1):c.1007G>A (p.Arg336His)	LOC130065244, MZF1 +1 more (R336H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362427	NM_198055.2(MZF1):c.920T>C (p.Leu307Pro)	LOC130065244, MZF1 +1 more (L307P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361551	NM_198055.2(MZF1):c.942A>C (p.Glu314Asp)	LOC130065244, MZF1 +1 more (E314D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331828	NM_198055.2(MZF1):c.1243G>C (p.Gly415Arg)	MZF1, MZF1-AS1 (G415R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330010	NM_198055.2(MZF1):c.790G>C (p.Gly264Arg)	MZF1-AS1, MZF1 (G264R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320789	NM_198055.2(MZF1):c.1932G>T (p.Gln644His)	MZF1-AS1, MZF1 (Q644H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306601	NM_198055.2(MZF1):c.1028G>T (p.Arg343Leu)	LOC130065244, MZF1 +1 more (R343L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303654	NM_198055.2(MZF1):c.1678C>T (p.Arg560Trp)	MZF1, MZF1-AS1 (R560W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300171	NM_198055.2(MZF1):c.1243G>A (p.Gly415Ser)	MZF1-AS1, MZF1 (G415S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286541	NM_198055.2(MZF1):c.914T>C (p.Leu305Pro)	LOC130065244, MZF1 +1 more (L305P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278286	NM_198055.2(MZF1):c.1504G>A (p.Glu502Lys)	MZF1-AS1, MZF1 (E502K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249402	NM_198055.2(MZF1):c.290C>T (p.Pro97Leu)	MZF1-AS1, MZF1 (P97L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243794	NM_198055.2(MZF1):c.338A>G (p.Glu113Gly)	MZF1, MZF1-AS1 (E113G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219156	NM_198055.2(MZF1):c.803C>A (p.Ala268Glu)	MZF1-AS1, MZF1 (A268E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212367	NM_198055.2(MZF1):c.1511A>T (p.Gln504Leu)	MZF1-AS1, MZF1 (Q504L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 786362	NM_198055.2(MZF1):c.789A>G (p.Leu263=)	MZF1, MZF1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 718323	NM_198055.2(MZF1):c.875T>G (p.Ile292Ser)	LOC130065245, MZF1 +1 more (I292S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 145872	GRCh38/hg38 19q13.43(chr19:58407283-58581129)x1	LOC130065239, LOC130065240 +41 more	Copy number loss	See cases	GLikely benign
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +537 more	Copy number gain	See cases	GPathogenic
Select item 144244	GRCh38/hg38 19q13.43(chr19:58548841-58581203)x3	CHMP2A, LOC130065240 +12 more	Copy number gain	See cases	GBenign
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 49