ZNF675[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 151167	GRCh38/hg38 19p12(chr19:23427660-23950272)x3	LOC100505851, LOC125371498 +7 more	Copy number gain	See cases	GUncertain significance
Select item 155572	GRCh38/hg38 19p12(chr19:23438627-23899197)x1	LOC125371498, LOC130064105 +5 more	Copy number loss	See cases	GUncertain significance
Select item 154475	GRCh38/hg38 19p12(chr19:23441726-24128733)x1	LOC100505851, LOC125371498 +15 more	Copy number loss	See cases	GBenign
Select item 549646	NC_000019.9:g.23624728_24054225del429498	LOC125371498, LOC130064105 +5 more	Deletion	Primary amenorrhea	GLikely benign
Select item 148477	GRCh38/hg38 19p12(chr19:23441926-23878224)x1	LOC125371498, LOC130064105 +5 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 146250	GRCh38/hg38 19p12(chr19:23441926-23950272)x3	LOC100505851, LOC125371498 +7 more	Copy number gain	See cases	GLikely benign
Select item 150787	GRCh38/hg38 19p12(chr19:23442005-23685592)x1	LOC125371498, LOC130064105 +1 more	Copy number loss	See cases	GLikely benign
Select item 145455	GRCh38/hg38 19p12(chr19:23442005-23860325)x1	LOC125371498, LOC130064105 +5 more	Copy number loss	See cases	GBenign/Likely benign
Select item 153616	GRCh38/hg38 19p12-11(chr19:23540844-24322835)x3	LINC03085, LOC100505851 +15 more	Copy number gain	See cases	GUncertain significance
Select item 152945	GRCh38/hg38 19p12(chr19:23549190-24195691)x3	LINC03085, LOC100505851 +15 more	Copy number gain	See cases	GUncertain significance
Select item 146715	GRCh38/hg38 19p12(chr19:23629461-24183272)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 155499	GRCh38/hg38 19p12-11(chr19:23631687-24324339)x4	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 153277	GRCh38/hg38 19p12-11(chr19:23631687-24322835)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 2295421	NM_138330.3(ZNF675):c.1504C>A (p.His502Asn)	ZNF675 (H502N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279237	NM_138330.3(ZNF675):c.1493A>G (p.His498Arg)	ZNF675 (H498R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197639	NM_138330.3(ZNF675):c.1489A>G (p.Thr497Ala)	ZNF675 (T497A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250256	NM_138330.3(ZNF675):c.1350A>C (p.Lys450Asn)	ZNF675 (K450N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609689	NM_138330.3(ZNF675):c.1288G>C (p.Gly430Arg)	ZNF675 (G430R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520489	NM_138330.3(ZNF675):c.1244A>G (p.Lys415Arg)	ZNF675 (K415R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211785	NM_138330.3(ZNF675):c.1213T>G (p.Phe405Val)	ZNF675 (F405V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455976	NM_138330.3(ZNF675):c.1210G>A (p.Ala404Thr)	ZNF675 (A404T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259146	NM_138330.3(ZNF675):c.1189A>C (p.Lys397Gln)	ZNF675 (K397Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214308	NM_138330.3(ZNF675):c.1174G>A (p.Glu392Lys)	ZNF675 (E392K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458675	NM_138330.3(ZNF675):c.1157A>G (p.His386Arg)	ZNF675 (H386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197638	NM_138330.3(ZNF675):c.1151C>G (p.Thr384Arg)	ZNF675 (T384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288945	NM_138330.3(ZNF675):c.1151C>T (p.Thr384Met)	ZNF675 (T384M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215242	NM_138330.3(ZNF675):c.1144A>G (p.Asn382Asp)	ZNF675 (N382D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454868	NM_138330.3(ZNF675):c.1127C>T (p.Ala376Val)	ZNF675 (A376V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288792	NM_138330.3(ZNF675):c.1099C>T (p.Pro367Ser)	ZNF675 (P367S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540773	NM_138330.3(ZNF675):c.1052G>A (p.Arg351Gln)	ZNF675 (R351Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259144	NM_138330.3(ZNF675):c.1033T>G (p.Cys345Gly)	ZNF675 (C345G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540187	NM_138330.3(ZNF675):c.988C>A (p.His330Asn)	ZNF675 (H330N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323194	NM_138330.3(ZNF675):c.935A>G (p.Tyr312Cys)	ZNF675 (Y312C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392021	NM_138330.3(ZNF675):c.926A>G (p.Glu309Gly)	ZNF675 (E309G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385526	NM_138330.3(ZNF675):c.872A>G (p.Lys291Arg)	ZNF675 (K291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197644	NM_138330.3(ZNF675):c.814A>G (p.Thr272Ala)	ZNF675 (T272A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216133	NM_138330.3(ZNF675):c.755G>A (p.Arg252Gln)	ZNF675 (R252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293366	NM_138330.3(ZNF675):c.709T>G (p.Phe237Val)	ZNF675 (F237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220114	NM_138330.3(ZNF675):c.677A>G (p.Lys226Arg)	ZNF675 (K226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259145	NM_138330.3(ZNF675):c.605G>A (p.Cys202Tyr)	ZNF675 (C202Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538136	NM_138330.3(ZNF675):c.583A>G (p.Thr195Ala)	ZNF675 (T195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562080	NM_138330.3(ZNF675):c.500T>C (p.Met167Thr)	ZNF675 (M167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232222	NM_138330.3(ZNF675):c.485A>G (p.His162Arg)	ZNF675 (H162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197642	NM_138330.3(ZNF675):c.478G>C (p.Asp160His)	ZNF675 (D160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526280	NM_138330.3(ZNF675):c.415A>G (p.Met139Val)	ZNF675 (M139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197641	NM_138330.3(ZNF675):c.362A>C (p.Glu121Ala)	ZNF675 (E121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197640	NM_138330.3(ZNF675):c.326A>G (p.Asp109Gly)	ZNF675 (D109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457811	NM_138330.3(ZNF675):c.194T>G (p.Val65Gly)	ZNF675 (V65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197643	NM_138330.3(ZNF675):c.59G>A (p.Cys20Tyr)	ZNF675 (C20Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150152	GRCh38/hg38 19p12(chr19:23665911-24195691)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 145634	GRCh38/hg38 19p12(chr19:23685651-24193591)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 1808207	GRCh37/hg19 19p12(chr19:23217767-23956831)x3	ZNF675, ZNF681 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816510	GRCh37/hg19 19p12-11(chr19:22630650-24487350)x3	ZNF99, ZNF492 +7 more	Copy number gain	See cases	GUncertain significance
Select item 624550	GRCh37/hg19 19p12(chr19:23855084-24340741)x3	ZNF254, ZNF675 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564601	GRCh37/hg19 19p12-11(chr19:22635439-24505637)x3	ZNF254, ZNF492 +7 more	Copy number gain	not provided	GLikely benign
Select item 564596	GRCh37/hg19 19p12-11(chr19:23804544-24505637)x3	ZNF675, ZNF681 +2 more	Copy number gain	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443293	GRCh37/hg19 19p12(chr19:23609725-24149545)x3	ZNF675, ZNF681 +1 more	Copy number gain	See cases	GUncertain significance
Select item 442618	GRCh37/hg19 19p12(chr19:23620945-24081999)x1	ZNF675, ZNF681	Copy number loss	See cases	GLikely benign
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 66