ClinVar for Gene (Select 100131691) - ClinVar

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

Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298201	NM_198055.2(MZF1):c.1061G>C (p.Arg354Thr)	MZF1, MZF1-AS1 (R354T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298200	NM_198055.2(MZF1):c.1853C>A (p.Thr618Lys)	MZF1, MZF1-AS1 (T618K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3298199	NM_198055.2(MZF1):c.2184G>C (p.Gln728His)	MZF1, MZF1-AS1 (Q728H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3298198	NM_198055.2(MZF1):c.767C>T (p.Ser256Phe)	MZF1, MZF1-AS1 (S256F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298196	NM_198055.2(MZF1):c.1396C>T (p.Pro466Ser)	MZF1, MZF1-AS1 (P466S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170350	NM_198055.2(MZF1):c.388C>T (p.Arg130Trp)	MZF1, MZF1-AS1 (R130W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170329	NM_198055.2(MZF1):c.2109C>A (p.His703Gln)	MZF1, MZF1-AS1 (H703Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170318	NM_198055.2(MZF1):c.1787C>G (p.Pro596Arg)	MZF1, MZF1-AS1 (P596R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170313	NM_198055.2(MZF1):c.1685T>C (p.Ile562Thr)	MZF1, MZF1-AS1 (I562T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170300	NM_198055.2(MZF1):c.1523C>A (p.Thr508Lys)	MZF1, MZF1-AS1 (T508K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170293	NM_198055.2(MZF1):c.1484C>T (p.Ala495Val)	MZF1, MZF1-AS1 (A495V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170289	NM_198055.2(MZF1):c.1450C>T (p.Pro484Ser)	MZF1, MZF1-AS1 (P484S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170287	NM_198055.2(MZF1):c.1436C>T (p.Pro479Leu)	MZF1, MZF1-AS1 (P479L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170274	NM_198055.2(MZF1):c.1272C>G (p.Ser424Arg)	MZF1, MZF1-AS1 (S424R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170259	NM_198055.2(MZF1):c.11C>T (p.Ala4Val)	MZF1, MZF1-AS1 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170256	NM_198055.2(MZF1):c.1162G>C (p.Glu388Gln)	MZF1, MZF1-AS1 (E388Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170253	NM_198055.2(MZF1):c.115G>A (p.Gly39Ser)	MZF1, MZF1-AS1 (G39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170243	NM_198055.2(MZF1):c.1031G>A (p.Gly344Asp)	LOC130065244, MZF1 +1 more (A263T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	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)	not specified	GUncertain significance
Select item 2604150	NM_198055.2(MZF1):c.323G>C (p.Arg108Pro)	MZF1, MZF1-AS1 (R108P)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2510779	NM_198055.2(MZF1):c.1907A>T (p.Gln636Leu)	MZF1-AS1, MZF1 (Q636L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2382405	NM_198055.2(MZF1):c.1303A>G (p.Thr435Ala)	MZF1, MZF1-AS1 (T435A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2374430	NM_198055.2(MZF1):c.1540G>C (p.Gly514Arg)	MZF1, MZF1-AS1 (G514R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2330010	NM_198055.2(MZF1):c.790G>C (p.Gly264Arg)	MZF1, MZF1-AS1 (G264R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320789	NM_198055.2(MZF1):c.1932G>T (p.Gln644His)	MZF1, MZF1-AS1 (Q644H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2300171	NM_198055.2(MZF1):c.1243G>A (p.Gly415Ser)	MZF1, MZF1-AS1 (G415S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2278286	NM_198055.2(MZF1):c.1504G>A (p.Glu502Lys)	MZF1, MZF1-AS1 (E502K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2249402	NM_198055.2(MZF1):c.290C>T (p.Pro97Leu)	MZF1, MZF1-AS1 (P97L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243794	NM_198055.2(MZF1):c.338A>G (p.Glu113Gly)	MZF1, MZF1-AS1 (E113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219156	NM_198055.2(MZF1):c.803C>A (p.Ala268Glu)	MZF1, MZF1-AS1 (A268E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212367	NM_198055.2(MZF1):c.1511A>T (p.Gln504Leu)	MZF1, MZF1-AS1 (Q504L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +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	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +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	LOC130064903, LOC130064904 +1093 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: 63