ZNF799[gene] - ClinVar

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

Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	ACP5, ANGPTL6 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	LOC130063636, LOC130063637 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	BEST2, BRME1 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC130063796, LOC130063797 +351 more	Copy number gain	See cases	GPathogenic
Select item 153423	GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1	BEST2, DHPS +57 more	Copy number loss	See cases	GUncertain significance
Select item 2459517	NM_001080821.3(ZNF799):c.1838A>G (p.Lys613Arg)	ZNF799 (K613R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515183	NM_001080821.3(ZNF799):c.1829A>G (p.His610Arg)	ZNF799 (H578R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198469	NM_001080821.3(ZNF799):c.1769G>A (p.Cys590Tyr)	ZNF799 (C590Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568583	NM_001080821.3(ZNF799):c.1765G>A (p.Glu589Lys)	ZNF799 (E557K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298915	NM_001080821.3(ZNF799):c.1655G>T (p.Arg552Ile)	ZNF799 (R520I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553745	NM_001080821.3(ZNF799):c.1564C>G (p.His522Asp)	ZNF799 (H490D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464142	NM_001080821.3(ZNF799):c.1517G>T (p.Cys506Phe)	ZNF799 (C506F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455743	NM_001080821.3(ZNF799):c.1325C>T (p.Thr442Ile)	ZNF799 (T442I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376088	NM_001080821.3(ZNF799):c.1292G>A (p.Arg431His)	ZNF799 (R399H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198468	NM_001080821.3(ZNF799):c.1250C>A (p.Ala417Glu)	ZNF799 (A385E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198467	NM_001080821.3(ZNF799):c.1230G>C (p.Arg410Ser)	ZNF799 (R378S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314255	NM_001080821.3(ZNF799):c.1160A>C (p.His387Pro)	ZNF799 (H355P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198466	NM_001080821.3(ZNF799):c.1156A>G (p.Met386Val)	ZNF799 (M386V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535877	NM_001080821.3(ZNF799):c.1111G>A (p.Gly371Arg)	ZNF799 (G371R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320991	NM_001080821.3(ZNF799):c.1073C>T (p.Thr358Ile)	ZNF799 (T326I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239051	NM_001080821.3(ZNF799):c.1017T>G (p.Cys339Trp)	ZNF799 (C339W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271497	NM_001080821.3(ZNF799):c.928G>T (p.Ala310Ser)	ZNF799 (A278S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198479	NM_001080821.3(ZNF799):c.914A>C (p.Asp305Ala)	ZNF799 (D273A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617434	NM_001080821.3(ZNF799):c.899A>G (p.Glu300Gly)	ZNF799 (E300G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198477	NM_001080821.3(ZNF799):c.836A>G (p.Lys279Arg)	ZNF799 (K247R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266710	NM_001080821.3(ZNF799):c.824A>C (p.His275Pro)	ZNF799 (H243P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365108	NM_001080821.3(ZNF799):c.817A>G (p.Arg273Gly)	ZNF799 (R273G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620059	NM_001080821.3(ZNF799):c.760G>C (p.Glu254Gln)	ZNF799 (E222Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198476	NM_001080821.3(ZNF799):c.692C>G (p.Ser231Cys)	ZNF799 (S199C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492549	NM_001080821.3(ZNF799):c.653C>T (p.Thr218Met)	ZNF799 (T186M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546789	NM_001080821.3(ZNF799):c.632T>C (p.Leu211Ser)	ZNF799 (L211S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198475	NM_001080821.3(ZNF799):c.631T>G (p.Leu211Val)	ZNF799 (L211V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223326	NM_001080821.3(ZNF799):c.596G>T (p.Cys199Phe)	ZNF799 (C167F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198473	NM_001080821.3(ZNF799):c.523G>A (p.Gly175Arg)	ZNF799 (G175R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546607	NM_001080821.3(ZNF799):c.472A>G (p.Thr158Ala)	ZNF799 (T126A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345341	NM_001080821.3(ZNF799):c.466C>T (p.Leu156Phe)	ZNF799 (L156F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198472	NM_001080821.3(ZNF799):c.437G>A (p.Arg146His)	ZNF799 (R114H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356256	NM_001080821.3(ZNF799):c.429T>G (p.His143Gln)	ZNF799 (H111Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198471	NM_001080821.3(ZNF799):c.319A>G (p.Met107Val)	ZNF799 (M107V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363659	NM_001080821.3(ZNF799):c.280A>G (p.Lys94Glu)	ZNF799 (K94E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252471	NM_001080821.3(ZNF799):c.256C>G (p.Gln86Glu)	ZNF799 (Q86E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210791	NM_001080821.3(ZNF799):c.194G>T (p.Cys65Phe)	ZNF799 (C65F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207602	NM_001080821.3(ZNF799):c.163C>G (p.Gln55Glu)	ZNF799 (Q23E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225051	NM_001080821.3(ZNF799):c.19G>C (p.Glu7Gln)	ZNF799 (E7Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	HOOK2, TRMT1 +81 more	Duplication	Deficiency of alpha-mannosidase +4 more	GUncertain significance
Select item 980196	GRCh37/hg19 19p13.2(chr19:12343654-12519924)x1	ZNF563, ZNF442 +2 more	Copy number loss	not provided	GLikely benign
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	PRKCSH, PTGER1 +153 more	Copy number gain	See cases	GPathogenic
Select item 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	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

Search results

Items: 60