ClinVar for Gene (Select 147923) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335717	NM_144689.5(ZNF420):c.1076G>C (p.Gly359Ala)	ZNF420 (G288A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335716	NM_144689.5(ZNF420):c.42C>A (p.Asp14Glu)	ZNF420 (D14E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3335715	NM_144689.5(ZNF420):c.1717C>G (p.Gln573Glu)	ZNF420 (Q573E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335714	NM_144689.5(ZNF420):c.238G>A (p.Asp80Asn)	ZNF420 (D80N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335712	NM_144689.5(ZNF420):c.1913C>T (p.Thr638Ile)	ZNF420 (T638I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195654	NM_144689.5(ZNF420):c.607G>A (p.Ala203Thr)	ZNF420 (A132T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195653	NM_144689.5(ZNF420):c.408G>T (p.Glu136Asp)	ZNF420 (E65D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195652	NM_144689.5(ZNF420):c.287T>C (p.Met96Thr)	ZNF420 (M25T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195651	NM_144689.5(ZNF420):c.250T>C (p.Ser84Pro)	ZNF420 (S13P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195650	NM_144689.5(ZNF420):c.1782G>C (p.Lys594Asn)	ZNF420 (K594N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195649	NM_144689.5(ZNF420):c.1625G>A (p.Arg542His)	ZNF420 (R471H +1 more)	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 2598986	NM_144689.5(ZNF420):c.97G>C (p.Asp33His)	ZNF420 (D33H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2570009	NM_144689.5(ZNF420):c.907G>A (p.Gly303Ser)	ZNF420 (G232S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542987	NM_144689.5(ZNF420):c.521A>G (p.Lys174Arg)	ZNF420 (K103R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513508	NM_144689.5(ZNF420):c.1894C>T (p.Arg632Trp)	ZNF420 (R561W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476862	NM_144689.5(ZNF420):c.976C>A (p.Gln326Lys)	ZNF420 (Q255K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460523	NM_144689.5(ZNF420):c.1622C>T (p.Ala541Val)	ZNF420 (A541V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408526	NM_144689.5(ZNF420):c.1897C>T (p.His633Tyr)	ZNF420 (H562Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407449	NM_144689.5(ZNF420):c.1670A>C (p.Lys557Thr)	ZNF420 (K486T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383217	NM_144689.5(ZNF420):c.1372C>T (p.Arg458Cys)	ZNF420 (R387C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381051	NM_144689.5(ZNF420):c.1697A>G (p.Lys566Arg)	ZNF420 (K495R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367428	NM_144689.5(ZNF420):c.1930C>G (p.Gln644Glu)	ZNF420 (Q573E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355402	NM_144689.5(ZNF420):c.894G>C (p.Lys298Asn)	ZNF420 (K227N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349975	NM_144689.5(ZNF420):c.831G>C (p.Lys277Asn)	ZNF420 (K206N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294299	NM_144689.5(ZNF420):c.763G>C (p.Glu255Gln)	ZNF420 (E184Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282653	NM_144689.5(ZNF420):c.1906A>G (p.Ile636Val)	ZNF420 (I636V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267324	NM_144689.5(ZNF420):c.1641A>G (p.Ile547Met)	ZNF420 (I547M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246749	NM_144689.5(ZNF420):c.821C>T (p.Thr274Ile)	ZNF420 (T203I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243441	NM_144689.5(ZNF420):c.1400G>A (p.Arg467Gln)	ZNF420 (R396Q +1 more)	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 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 980761	GRCh37/hg19 19q13.12(chr19:37539271-37606453)x1	ZNF420	Copy number loss	not provided	GUncertain significance
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 500151	NM_144689.5(ZNF420):c.1776T>A (p.Cys592Ter)	ZNF420 (C521* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
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 442455	GRCh37/hg19 19q13.12(chr19:37431411-37747108)x1	ZNF383, ZNF420 +3 more	Copy number loss	See cases	GUncertain significance
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 221310	NM_144689.5(ZNF420):c.362A>G (p.Asn121Ser)	ZNF420 (N121S +1 more)	Single nucleotide variant (missense variant)	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

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Links from Gene

Items: 50