ClinVar for Gene (Select 25850) - ClinVar

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

Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335558	NM_001242472.2(ZNF345):c.185T>G (p.Leu62Arg)	ZNF345 (L62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335557	NM_001242472.2(ZNF345):c.298G>C (p.Gly100Arg)	ZNF345 (G100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335556	NM_001242472.2(ZNF345):c.615A>G (p.Ile205Met)	LOC126862898, ZNF345 (I205M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259705	NM_001037232.4(ZNF829):c.1073G>A (p.Arg358Lys)	LOC126862899, ZNF345 +1 more (R439K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259704	NM_001037232.4(ZNF829):c.734G>A (p.Cys245Tyr)	LOC126862899, ZNF345 +1 more (C245Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259702	NM_001037232.4(ZNF829):c.1124C>T (p.Thr375Ile)	LOC126862899, ZNF345 +1 more (T375I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259701	NM_001037232.4(ZNF829):c.884C>T (p.Pro295Leu)	LOC126862899, ZNF345 +1 more (P295L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259700	NM_001037232.4(ZNF829):c.392G>A (p.Arg131His)	LOC126862899, ZNF345 +1 more (R212H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 3195313	NM_001242472.2(ZNF345):c.826C>T (p.His276Tyr)	LOC126862898, ZNF345 (H276Y)	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 3195310	NM_001242472.2(ZNF345):c.700G>C (p.Ala234Pro)	LOC126862898, ZNF345 (A234P)	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 3195308	NM_001242472.2(ZNF345):c.635G>A (p.Gly212Asp)	LOC126862898, ZNF345 (G212D)	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 3195305	NM_001242472.2(ZNF345):c.368G>A (p.Cys123Tyr)	ZNF345 (C123Y)	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 3195303	NM_001242472.2(ZNF345):c.140C>G (p.Thr47Ser)	ZNF345 (T47S)	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 3195301	NM_001242472.2(ZNF345):c.1115G>A (p.Cys372Tyr)	LOC126862898, ZNF345 (C372Y)	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 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 2600492	NM_001242472.2(ZNF345):c.941A>T (p.Tyr314Phe)	LOC126862898, ZNF345 (Y314F)	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 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 2542338	NM_001242472.2(ZNF345):c.1418A>G (p.Lys473Arg)	LOC126862898, ZNF345 (K473R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2515324	NM_001242472.2(ZNF345):c.571C>T (p.Arg191Trp)	ZNF345 (R191W)	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 2477657	NM_001242472.2(ZNF345):c.1235C>G (p.Ala412Gly)	LOC126862898, ZNF345 (A412G)	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 2458374	NM_001242472.2(ZNF345):c.1204G>C (p.Glu402Gln)	LOC126862898, ZNF345 (E402Q)	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 2403751	NM_001242472.2(ZNF345):c.838C>A (p.His280Asn)	LOC126862898, ZNF345 (H280N)	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 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 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 2381502	NM_001242472.2(ZNF345):c.442T>A (p.Cys148Ser)	ZNF345 (C148S)	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 2369776	NM_001242472.2(ZNF345):c.314T>A (p.Leu105His)	ZNF345 (L105H)	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 2361692	NM_001242472.2(ZNF345):c.517C>G (p.Pro173Ala)	ZNF345 (P173A)	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 2312725	NM_001242472.2(ZNF345):c.1409A>G (p.Gln470Arg)	LOC126862898, ZNF345 (Q470R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 2215587	NM_001242472.2(ZNF345):c.1147T>C (p.Ser383Pro)	LOC126862898, ZNF345 (S383P)	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 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 789119	NM_001242472.2(ZNF345):c.803G>C (p.Ser268Thr)	LOC126862898, ZNF345 (S268T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787487	NM_001242472.2(ZNF345):c.1450T>C (p.Leu484=)	LOC126862898, ZNF345	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 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)	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 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
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 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: 70