ZNF345[gene] - ClinVar

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Items: 62

	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 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 3195303	NM_001242472.2(ZNF345):c.140C>G (p.Thr47Ser)	ZNF345 (T47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195304	NM_001242472.2(ZNF345):c.236G>A (p.Arg79Gln)	ZNF345 (R79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369776	NM_001242472.2(ZNF345):c.314T>A (p.Leu105His)	ZNF345 (L105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195305	NM_001242472.2(ZNF345):c.368G>A (p.Cys123Tyr)	ZNF345 (C123Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381501	NM_001242472.2(ZNF345):c.441G>C (p.Glu147Asp)	ZNF345 (E147D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381502	NM_001242472.2(ZNF345):c.442T>A (p.Cys148Ser)	ZNF345 (C148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349936	NM_001242472.2(ZNF345):c.467G>C (p.Ser156Thr)	ZNF345 (S156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361692	NM_001242472.2(ZNF345):c.517C>G (p.Pro173Ala)	ZNF345 (P173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195307	NM_001242472.2(ZNF345):c.569T>C (p.Ile190Thr)	ZNF345 (I190T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515324	NM_001242472.2(ZNF345):c.571C>T (p.Arg191Trp)	ZNF345 (R191W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195308	NM_001242472.2(ZNF345):c.635G>A (p.Gly212Asp)	LOC126862898, ZNF345 (G212D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401550	NM_001242472.2(ZNF345):c.662G>A (p.Arg221Gln)	LOC126862898, ZNF345 (R221Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195309	NM_001242472.2(ZNF345):c.664C>T (p.Arg222Trp)	LOC126862898, ZNF345 (R222W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213237	NM_001242472.2(ZNF345):c.685C>T (p.Pro229Ser)	LOC126862898, ZNF345 (P229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195310	NM_001242472.2(ZNF345):c.700G>C (p.Ala234Pro)	LOC126862898, ZNF345 (A234P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195311	NM_001242472.2(ZNF345):c.758C>G (p.Thr253Ser)	LOC126862898, ZNF345 (T253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789119	NM_001242472.2(ZNF345):c.803G>C (p.Ser268Thr)	LOC126862898, ZNF345 (S268T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3195313	NM_001242472.2(ZNF345):c.826C>T (p.His276Tyr)	LOC126862898, ZNF345 (H276Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403751	NM_001242472.2(ZNF345):c.838C>A (p.His280Asn)	LOC126862898, ZNF345 (H280N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600492	NM_001242472.2(ZNF345):c.941A>T (p.Tyr314Phe)	LOC126862898, ZNF345 (Y314F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364796	NM_001242472.2(ZNF345):c.1061G>A (p.Gly354Asp)	LOC126862898, ZNF345 (G354D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195301	NM_001242472.2(ZNF345):c.1115G>A (p.Cys372Tyr)	LOC126862898, ZNF345 (C372Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215587	NM_001242472.2(ZNF345):c.1147T>C (p.Ser383Pro)	LOC126862898, ZNF345 (S383P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490636	NM_001242472.2(ZNF345):c.1181G>A (p.Gly394Asp)	LOC126862898, ZNF345 (G394D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458374	NM_001242472.2(ZNF345):c.1204G>C (p.Glu402Gln)	LOC126862898, ZNF345 (E402Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477657	NM_001242472.2(ZNF345):c.1235C>G (p.Ala412Gly)	LOC126862898, ZNF345 (A412G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195302	NM_001242472.2(ZNF345):c.1367G>A (p.Cys456Tyr)	LOC126862898, ZNF345 (C456Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312725	NM_001242472.2(ZNF345):c.1409A>G (p.Gln470Arg)	LOC126862898, ZNF345 (Q470R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542338	NM_001242472.2(ZNF345):c.1418A>G (p.Lys473Arg)	LOC126862898, ZNF345 (K473R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787487	NM_001242472.2(ZNF345):c.1450T>C (p.Leu484=)	LOC126862898, ZNF345	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2517193	NM_001242472.2(ZNF345):c.1459A>G (p.Ile487Val)	LOC126862898, ZNF345 (I487V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542709	NM_001037232.4(ZNF829):c.1258C>T (p.Arg420Cys)	LOC126862899, ZNF345 +1 more (R420C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198658	NM_001037232.4(ZNF829):c.1161G>T (p.Lys387Asn)	LOC126862899, ZNF345 +1 more (K387N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649766	NM_001037232.4(ZNF829):c.1140T>C (p.Tyr380=)	LOC126862899, ZNF345 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2306775	NM_001037232.4(ZNF829):c.1054T>A (p.Tyr352Asn)	LOC126862899, ZNF345 +1 more (Y352N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463697	NM_001037232.4(ZNF829):c.1025A>G (p.His342Arg)	LOC126862899, ZNF345 +1 more (H423R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411645	NM_001037232.4(ZNF829):c.993G>C (p.Lys331Asn)	LOC126862899, ZNF345 +1 more (K412N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385613	NM_001037232.4(ZNF829):c.839G>A (p.Ser280Asn)	LOC126862899, ZNF345 +1 more (S280N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198662	NM_001037232.4(ZNF829):c.754T>C (p.Cys252Arg)	LOC126862899, ZNF345 +1 more (C333R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595998	NM_001037232.4(ZNF829):c.670A>G (p.Ser224Gly)	LOC126862899, ZNF345 +1 more (S224G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291616	NM_001037232.4(ZNF829):c.586G>C (p.Gly196Arg)	LOC126862899, ZNF345 +1 more (G196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382240	NM_001037232.4(ZNF829):c.584G>A (p.Arg195His)	LOC126862899, ZNF345 +1 more (R195H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240909	NM_001037232.4(ZNF829):c.483T>G (p.Cys161Trp)	LOC126862899, ZNF345 +1 more (C161W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233149	NM_001037232.4(ZNF829):c.391C>T (p.Arg131Cys)	LOC126862899, ZNF345 +1 more (R212C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2685636	GRCh37/hg19 19q13.12(chr19:36804753-37720742)x1	ZFP14, ZFP82 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 1526662	GRCh37/hg19 19q13.12(chr19:36910874-37705345)	ZNF260, ZNF345 +12 more	Copy number loss	not specified	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 816078	GRCh37/hg19 19q13.12(chr19:37325796-37516374)x1	ZNF829, ZNF345 +2 more	Copy number loss	not provided	GLikely benign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395395	GRCh37/hg19 19q13.12(chr19:37367725-37440672)x1	ZNF345, ZNF568 +1 more	Copy number loss	See cases	GLikely benign
Select item 394412	GRCh37/hg19 19q13.12(chr19:37130813-37342652)x3	ZNF345, ZNF461 +3 more	Copy number gain	See cases	GBenign
Select item 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance
Select item 221401	GRCh37/hg19 19q13.12-13.2(chr19:36685995-38708166)x1	DPF1, SIPA1L3 +31 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221351	chr19:36674305-38652962 complex variant	SIPA1L3, WDR87 +30 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 62