100529215[Gene ID] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 2518976	NM_032497.3(ZNF559):c.-249A>C	LOC130063449, ZNF559 +1 more (I3L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2269539	NM_032497.3(ZNF559):c.-239C>T	LOC130063449, ZNF559 +1 more (A6V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2509459	NM_032497.3(ZNF559):c.-225C>G	ZNF559-ZNF177, LOC130063449 +1 more (R11G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3258668	NM_032497.3(ZNF559):c.-219C>G	LOC130063449, ZNF559 +1 more (R13G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2488372	NM_032497.3(ZNF559):c.-218G>T	LOC130063449, ZNF559 +1 more (R13L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2249729	NM_032497.3(ZNF559):c.-212G>T	LOC130063449, ZNF559 +1 more (R15L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3196702	NM_032497.3(ZNF559):c.-194C>T	ZNF559, ZNF559-ZNF177 (S21F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3196710	NM_032497.3(ZNF559):c.-159C>T	ZNF559, ZNF559-ZNF177 (P33S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2225311	NM_032497.3(ZNF559):c.-132C>A	ZNF559, ZNF559-ZNF177 (L42M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 714760	NM_032497.3(ZNF559):c.17T>G (p.Leu6Trp)	ZNF559, ZNF559-ZNF177 (L70W +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2608389	NM_032497.3(ZNF559):c.25T>C (p.Tyr9His)	ZNF559, ZNF559-ZNF177 (Y73H +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3196700	NM_032497.3(ZNF559):c.62T>C (p.Val21Ala)	ZNF559, ZNF559-ZNF177 (V49A +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2530551	NM_032497.3(ZNF559):c.65A>G (p.Asp22Gly)	ZNF559, ZNF559-ZNF177 (D22G +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2368069	NM_032497.3(ZNF559):c.140A>G (p.Tyr47Cys)	ZNF559, ZNF559-ZNF177 (Y111C +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2618830	NM_032497.3(ZNF559):c.166G>A (p.Glu56Lys)	ZNF559, ZNF559-ZNF177 (E56K +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3258669	NM_032497.3(ZNF559):c.220A>G (p.Lys74Glu)	ZNF559, ZNF559-ZNF177 (K138E +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2364098	NM_032497.3(ZNF559):c.286T>A (p.Cys96Ser)	ZNF559, ZNF559-ZNF177 (C160S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2250254	NM_032497.3(ZNF559):c.394T>A (p.Ser132Thr)	ZNF559, ZNF559-ZNF177 (S196T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196701	NM_032497.3(ZNF559):c.433G>A (p.Glu145Lys)	ZNF559, ZNF559-ZNF177 (E145K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3196703	NM_032497.3(ZNF559):c.478C>G (p.Leu160Val)	ZNF559, ZNF559-ZNF177 (L118V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238297	NM_032497.3(ZNF559):c.515A>C (p.His172Pro)	ZNF559, ZNF559-ZNF177 (H236P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196704	NM_032497.3(ZNF559):c.526A>G (p.Lys176Glu)	ZNF559, ZNF559-ZNF177 (K240E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196705	NM_032497.3(ZNF559):c.584C>T (p.Pro195Leu)	ZNF559, ZNF559-ZNF177 (P195L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2380116	NM_032497.3(ZNF559):c.593C>T (p.Ser198Leu)	ZNF559, ZNF559-ZNF177 (S156L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196706	NM_032497.3(ZNF559):c.620A>T (p.Tyr207Phe)	ZNF559, ZNF559-ZNF177 (Y165F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196707	NM_032497.3(ZNF559):c.629A>G (p.Glu210Gly)	ZNF559, ZNF559-ZNF177 (E168G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358358	NM_032497.3(ZNF559):c.715A>G (p.Lys239Glu)	ZNF559, ZNF559-ZNF177 (K197E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196708	NM_032497.3(ZNF559):c.722A>G (p.Tyr241Cys)	ZNF559, ZNF559-ZNF177 (Y305C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196709	NM_032497.3(ZNF559):c.726A>T (p.Glu242Asp)	ZNF559, ZNF559-ZNF177 (E200D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606913	NM_032497.3(ZNF559):c.791G>T (p.Ser264Ile)	ZNF559, ZNF559-ZNF177 (S328I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258667	NM_032497.3(ZNF559):c.805A>G (p.Ile269Val)	ZNF559, ZNF559-ZNF177 (I269V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2616804	NM_032497.3(ZNF559):c.836C>T (p.Ala279Val)	ZNF559, ZNF559-ZNF177 (A279V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196694	NM_032497.3(ZNF559):c.862A>G (p.Ile288Val)	ZNF559, ZNF559-ZNF177 (I352V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558170	NM_032497.3(ZNF559):c.875C>G (p.Thr292Ser)	ZNF559, ZNF559-ZNF177 (T356S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2359345	NM_032497.3(ZNF559):c.893T>C (p.Val298Ala)	ZNF559, ZNF559-ZNF177 (V298A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196695	NM_032497.3(ZNF559):c.958A>G (p.Thr320Ala)	ZNF559, ZNF559-ZNF177 (T278A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2309776	NM_032497.3(ZNF559):c.971C>T (p.Pro324Leu)	ZNF559, ZNF559-ZNF177 (P324L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196696	NM_032497.3(ZNF559):c.1062A>C (p.Glu354Asp)	ZNF559, ZNF559-ZNF177 (E354D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245985	NM_032497.3(ZNF559):c.1073G>T (p.Cys358Phe)	ZNF559, ZNF559-ZNF177 (C316F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247266	NM_032497.3(ZNF559):c.1091A>G (p.Asn364Ser)	ZNF559, ZNF559-ZNF177 (N364S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2533788	NM_032497.3(ZNF559):c.1142A>G (p.Tyr381Cys)	ZNF559, ZNF559-ZNF177 (Y445C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590462	NM_032497.3(ZNF559):c.1147T>C (p.Cys383Arg)	ZNF559, ZNF559-ZNF177 (C341R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294142	NM_032497.3(ZNF559):c.1149T>G (p.Cys383Trp)	ZNF559, ZNF559-ZNF177 (C447W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196697	NM_032497.3(ZNF559):c.1181C>T (p.Ser394Phe)	ZNF559, ZNF559-ZNF177 (S458F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2381299	NM_032497.3(ZNF559):c.1184C>T (p.Ser395Phe)	ZNF559, ZNF559-ZNF177 (S353F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258666	NM_032497.3(ZNF559):c.1226A>G (p.Tyr409Cys)	ZNF559, ZNF559-ZNF177 (Y409C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510058	NM_032497.3(ZNF559):c.1274T>C (p.Ile425Thr)	ZNF559, ZNF559-ZNF177 (I425T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458170	NM_032497.3(ZNF559):c.1301A>G (p.Glu434Gly)	ZNF559, ZNF559-ZNF177 (E434G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196698	NM_032497.3(ZNF559):c.1346C>G (p.Ser449Cys)	ZNF559, ZNF559-ZNF177 (S407C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405293	NM_032497.3(ZNF559):c.1430C>T (p.Ser477Leu)	ZNF559, ZNF559-ZNF177 (S477L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593363	NM_032497.3(ZNF559):c.1471C>T (p.Arg491Trp)	ZNF559, ZNF559-ZNF177 (R491W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2403591	NM_032497.3(ZNF559):c.1510C>T (p.Arg504Trp)	ZNF559, ZNF559-ZNF177 (R462W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243235	NM_032497.3(ZNF559):c.1517C>T (p.Thr506Ile)	ZNF559, ZNF559-ZNF177 (T570I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246967	NM_032497.3(ZNF559):c.1529G>A (p.Arg510Gln)	ZNF559, ZNF559-ZNF177 (R468Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3196699	NM_032497.3(ZNF559):c.1583T>C (p.Phe528Ser)	ZNF559, ZNF559-ZNF177 (F592S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488495	NM_032497.3(ZNF559):c.1607A>G (p.Glu536Gly)	ZNF559, ZNF559-ZNF177 (E600G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196711	NM_001172650.3(ZNF559-ZNF177):c.287T>C (p.Ile96Thr)	ZNF177, ZNF559-ZNF177 (I96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194202	NM_001172651.2(ZNF177):c.455A>G (p.Lys152Arg)	ZNF177, ZNF559-ZNF177 (K152R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2518737	NM_001172651.2(ZNF177):c.535A>G (p.Thr179Ala)	ZNF177, ZNF559-ZNF177 (T179A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2293096	NM_001172651.2(ZNF177):c.647A>G (p.His216Arg)	ZNF177, ZNF559-ZNF177 (H216R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2618052	NM_001172651.2(ZNF177):c.650C>T (p.Ser217Phe)	ZNF177, ZNF559-ZNF177 (S217F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2549646	NM_001172651.2(ZNF177):c.653C>T (p.Ser218Phe)	ZNF177, ZNF559-ZNF177 (S218F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2534928	NM_001172651.2(ZNF177):c.659C>T (p.Ser220Leu)	ZNF177, ZNF559-ZNF177 (S220L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2388872	NM_001172651.2(ZNF177):c.664C>T (p.Arg222Cys)	ZNF177, ZNF559-ZNF177 (R222C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3194203	NM_001172651.2(ZNF177):c.791C>T (p.Thr264Ile)	ZNF177, ZNF559-ZNF177 (T264I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2342263	NM_001172651.2(ZNF177):c.1321G>A (p.Val441Ile)	ZNF177, ZNF559-ZNF177 (V441I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 980197	GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	OR7E24, OR7G1 +31 more	Copy number gain	not provided	GUncertain significance
Select item 980195	GRCh37/hg19 19p13.2(chr19:9245167-9465565)x3	ZNF559-ZNF177, OR7D4 +5 more	Copy number gain	not provided	GLikely benign
Select item 687846	GRCh37/hg19 19p13.2(chr19:9485388-9633295)x1	ZNF177, ZNF266 +2 more	Copy number loss	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 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 221397	GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1	ACTL9, ADAMTS10 +28 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221349	Single allele	COL5A3, FBXL12 +23 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 77