ZNF546[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151011	GRCh37/hg19 19q13.2(chr19:40403192-40694875)x1	FCGBP, LOC112552149 +14 more	Copy number loss	See cases	GUncertain significance
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
Select item 3196608	NM_178544.5(ZNF546):c.48T>G (p.Ile16Met)	ZNF546 (I16M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196611	NM_178544.5(ZNF546):c.88C>T (p.Arg30Trp)	ZNF546 (R30W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2401066	NM_178544.5(ZNF546):c.121G>A (p.Glu41Lys)	ZNF546 (E15K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258623	NM_178544.5(ZNF546):c.184T>C (p.Phe62Leu)	ZNF546 (F36L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196607	NM_178544.5(ZNF546):c.227G>T (p.Cys76Phe)	ZNF546 (C76F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330525	NM_178544.5(ZNF546):c.307A>G (p.Ile103Val)	ZNF546 (I103V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529175	NM_178544.5(ZNF546):c.329C>A (p.Thr110Asn)	ZNF546 (T84N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2537259	NM_178544.5(ZNF546):c.342A>T (p.Gln114His)	ZNF546 (Q88H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611089	NM_178544.5(ZNF546):c.355T>C (p.Trp119Arg)	ZNF546 (W119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525224	NM_178544.5(ZNF546):c.407A>G (p.Lys136Arg)	ZNF546 (K136R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258624	NM_178544.5(ZNF546):c.637A>G (p.Arg213Gly)	ZNF546 (R187G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531935	NM_178544.5(ZNF546):c.791A>T (p.His264Leu)	ZNF546 (H238L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196609	NM_178544.5(ZNF546):c.805G>C (p.Gly269Arg)	ZNF546 (G243R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196610	NM_178544.5(ZNF546):c.834T>G (p.Cys278Trp)	ZNF546 (C252W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409929	NM_178544.5(ZNF546):c.857A>G (p.Tyr286Cys)	ZNF546 (Y286C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258621	NM_178544.5(ZNF546):c.904G>A (p.Glu302Lys)	ZNF546 (E302K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196612	NM_178544.5(ZNF546):c.908G>A (p.Cys303Tyr)	ZNF546 (C277Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196591	NM_178544.5(ZNF546):c.1075T>C (p.Cys359Arg)	ZNF546 (C359R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258618	NM_178544.5(ZNF546):c.1240G>A (p.Glu414Lys)	ZNF546 (E388K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341678	NM_178544.5(ZNF546):c.1295G>A (p.Arg432His)	ZNF546 (R432H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196592	NM_178544.5(ZNF546):c.1328G>A (p.Cys443Tyr)	LOC126862907, ZNF546 (C443Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196593	NM_178544.5(ZNF546):c.1337G>A (p.Cys446Tyr)	LOC126862907, ZNF546 (C420Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196595	NM_178544.5(ZNF546):c.1343A>G (p.Lys448Arg)	LOC126862907, ZNF546 (K448R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258628	NM_178544.5(ZNF546):c.1366C>G (p.Leu456Val)	LOC126862907, ZNF546 (L430V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541075	NM_178544.5(ZNF546):c.1367T>C (p.Leu456Pro)	LOC126862907, ZNF546 (L456P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258627	NM_178544.5(ZNF546):c.1477G>A (p.Gly493Ser)	LOC126862907, ZNF546 (G493S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258622	NM_178544.5(ZNF546):c.1486C>T (p.Pro496Ser)	LOC126862907, ZNF546 (P470S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370725	NM_178544.5(ZNF546):c.1645T>C (p.Cys549Arg)	LOC126862907, ZNF546 (C549R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196596	NM_178544.5(ZNF546):c.1681G>T (p.Ala561Ser)	LOC126862907, ZNF546 (A561S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323533	NM_178544.5(ZNF546):c.1718G>A (p.Arg573Gln)	LOC126862907, ZNF546 (R547Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196597	NM_178544.5(ZNF546):c.1756T>C (p.Cys586Arg)	LOC126862907, ZNF546 (C586R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196598	NM_178544.5(ZNF546):c.1778G>A (p.Arg593His)	LOC126862907, ZNF546 (R567H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196599	NM_178544.5(ZNF546):c.1807C>A (p.His603Asn)	LOC126862907, ZNF546 (H577N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196600	NM_178544.5(ZNF546):c.1831T>C (p.Cys611Arg)	LOC126862907, ZNF546 (C585R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196601	NM_178544.5(ZNF546):c.1832G>A (p.Cys611Tyr)	LOC126862907, ZNF546 (C585Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196602	NM_178544.5(ZNF546):c.1895C>T (p.Thr632Ile)	LOC126862907, ZNF546 (T606I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494114	NM_178544.5(ZNF546):c.1915T>G (p.Cys639Gly)	LOC126862907, ZNF546 (C613G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196603	NM_178544.5(ZNF546):c.1916G>T (p.Cys639Phe)	LOC126862907, ZNF546 (C639F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493991	NM_178544.5(ZNF546):c.1942C>T (p.Arg648Cys)	LOC126862907, ZNF546 (R622C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404122	NM_178544.5(ZNF546):c.1943G>A (p.Arg648His)	LOC126862907, ZNF546 (R648H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649871	NM_178544.5(ZNF546):c.1974T>A (p.Ile658=)	LOC126862907, ZNF546	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3196604	NM_178544.5(ZNF546):c.2018C>T (p.Thr673Met)	LOC126862907, ZNF546 (T647M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492013	NM_178544.5(ZNF546):c.2074C>G (p.Pro692Ala)	LOC126862907, ZNF546 (P666A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196605	NM_178544.5(ZNF546):c.2080A>G (p.Ile694Val)	LOC126862907, ZNF546 (I694V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258626	NM_178544.5(ZNF546):c.2083T>C (p.Cys695Arg)	LOC126862907, ZNF546 (C669R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196606	NM_178544.5(ZNF546):c.2096G>A (p.Gly699Glu)	LOC126862907, ZNF546 (G673E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353715	NM_178544.5(ZNF546):c.2120G>A (p.Arg707Gln)	LOC126862907, ZNF546 (R681Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258625	NM_178544.5(ZNF546):c.2138G>T (p.Arg713Ile)	LOC126862907, ZNF546 (R687I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340862	NM_178544.5(ZNF546):c.2198G>A (p.Arg733Gln)	LOC126862907, ZNF546 (R707Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308198	NM_178544.5(ZNF546):c.2447G>A (p.Arg816His)	LOC126862907, ZNF546 (R790H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205318	NM_178544.5(ZNF546):c.2458C>T (p.Leu820Phe)	LOC126862907, ZNF546 (L820F +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 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 1526665	GRCh37/hg19 19q13.2(chr19:40374795-40699742)	FCGBP, MAP3K10 +4 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 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	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 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 63