ClinVar for Gene (Select 84503) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258553	NM_032453.2(ZNF527):c.314A>T (p.Asp105Val)	ZNF527 (D105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258552	NM_032453.2(ZNF527):c.557C>T (p.Thr186Ile)	ZNF527 (T186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258551	NM_032453.2(ZNF527):c.322T>C (p.Ser108Pro)	ZNF527 (S108P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258550	NM_032453.2(ZNF527):c.1135A>G (p.Ile379Val)	ZNF527 (I379V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258549	NM_032453.2(ZNF527):c.403G>A (p.Glu135Lys)	ZNF527 (E135K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258548	NM_032453.2(ZNF527):c.1487G>T (p.Arg496Ile)	ZNF527 (R496I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196480	NM_032453.2(ZNF527):c.881G>T (p.Arg294Ile)	ZNF527 (R294I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196479	NM_032453.2(ZNF527):c.695A>G (p.Tyr232Cys)	ZNF527 (Y232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196478	NM_032453.2(ZNF527):c.692C>A (p.Thr231Lys)	ZNF527 (T231K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196477	NM_032453.2(ZNF527):c.623A>G (p.Glu208Gly)	ZNF527 (E208G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196476	NM_032453.2(ZNF527):c.572A>G (p.His191Arg)	ZNF527 (H191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196475	NM_032453.2(ZNF527):c.398A>C (p.Lys133Thr)	ZNF527 (K133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196474	NM_032453.2(ZNF527):c.215C>T (p.Pro72Leu)	ZNF527 (P72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196473	NM_032453.2(ZNF527):c.1547A>G (p.His516Arg)	ZNF527 (H516R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196472	NM_032453.2(ZNF527):c.1082A>G (p.Asn361Ser)	ZNF527 (N361S)	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 2617212	NM_032453.2(ZNF527):c.1466A>G (p.His489Arg)	ZNF527 (H489R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593220	NM_032453.2(ZNF527):c.1556G>A (p.Ser519Asn)	ZNF527 (S519N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519934	NM_032453.2(ZNF527):c.1360C>T (p.Arg454Cys)	ZNF527 (R454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512055	NM_032453.2(ZNF527):c.824G>A (p.Gly275Glu)	ZNF527 (G275E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467320	NM_032453.2(ZNF527):c.304A>G (p.Ile102Val)	ZNF527 (I102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364170	NM_032453.2(ZNF527):c.514A>G (p.Ile172Val)	ZNF527 (I172V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358429	NM_032453.2(ZNF527):c.325C>A (p.Gln109Lys)	ZNF527 (Q109K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292800	NM_032453.2(ZNF527):c.1695G>C (p.Gln565His)	ZNF527 (Q565H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228328	NM_032453.2(ZNF527):c.592A>G (p.Lys198Glu)	ZNF527 (K198E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224175	NM_032453.2(ZNF527):c.1756G>C (p.Glu586Gln)	ZNF527 (E586Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205867	NM_032453.2(ZNF527):c.1534G>A (p.Val512Ile)	ZNF527 (V512I)	Single nucleotide variant (missense variant)	not specified	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 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980762	GRCh37/hg19 19q13.12(chr19:37820377-38083967)x1	ZNF570, ZNF571 +5 more	Copy number loss	not provided	GUncertain significance
Select item 816079	GRCh37/hg19 19q13.12(chr19:37820245-38150396)x3	ZNF875, ZNF569 +6 more	Copy number gain	not provided	GLikely benign
Select item 773355	NM_032453.2(ZNF527):c.904del (p.Tyr302fs)	ZNF527 (Y302fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 773354	NM_032453.2(ZNF527):c.901_902insTGTG (p.Pro301fs)	ZNF527 (P301fs)	Insertion (frameshift 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 564582	GRCh37/hg19 19q13.12(chr19:37772899-37923531)x1	ZNF527, ZNF875 +1 more	Copy number loss	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 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
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 153332	GRCh38/hg38 19q13.12(chr19:37107396-37679721)x1	LINC01535, LOC112543487 +28 more	Copy number loss	See cases	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
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 46