ZNF829[gene] - ClinVar

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Items: 47

	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 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 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 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 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 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 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 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 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 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 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 3198660	NM_001037232.4(ZNF829):c.125T>C (p.Ile42Thr)	ZNF829 (I42T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455705	NM_001037232.4(ZNF829):c.11C>T (p.Ser4Phe)	ZNF829 (S4F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511208	NM_001037232.4(ZNF829):c.-30C>T	ZNF829 (L72F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2314591	NM_001037232.4(ZNF829):c.-45A>G	ZNF829 (S67G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2372034	NM_001037232.4(ZNF829):c.-77C>G	ZNF829 (S56C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3198659	NM_001037232.4(ZNF829):c.-81A>G	ZNF829 (T55A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3259706	NM_001037232.4(ZNF829):c.-85+141G>A	ZNF829 (G29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214257	NM_001037232.4(ZNF829):c.-85+124G>A	ZNF829 (G23E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459825	NM_001037232.4(ZNF829):c.-85+115G>T	ZNF829 (G20V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477253	NM_001037232.4(ZNF829):c.-85+99G>A	ZNF829 (G15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555769	NM_001037232.4(ZNF829):c.-85+94G>A	ZNF829 (R13Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259703	NM_001037232.4(ZNF829):c.-85+90G>C	ZNF829 (D12H)	Single nucleotide variant (missense variant +1 more)	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 1807905	GRCh37/hg19 19q13.12-13.13(chr19:37389799-38562489)x3	SIPA1L3, WDR87 +17 more	Copy number gain	not provided	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 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 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: 47