ClinVar for Gene (Select 284443) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258415	NM_001076678.3(ZNF493):c.788A>C (p.Lys263Thr)	ZNF493 (K135T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258412	NM_001076678.3(ZNF493):c.97G>A (p.Ala33Thr)	ZNF493 (A33T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258411	NM_001076678.3(ZNF493):c.653C>A (p.Ala218Asp)	ZNF493 (A218D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258410	NM_001076678.3(ZNF493):c.658A>G (p.Ile220Val)	ZNF493 (I220V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258409	NM_001076678.3(ZNF493):c.1573G>T (p.Ala525Ser)	ZNF493 (A397S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258408	NM_001076678.3(ZNF493):c.363G>T (p.Gln121His)	ZNF493 (Q121H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258407	NM_001076678.3(ZNF493):c.68C>T (p.Ser23Phe)	ZNF493 (S23F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258406	NM_001076678.3(ZNF493):c.1118G>C (p.Gly373Ala)	ZNF493 (G373A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258405	NM_001076678.3(ZNF493):c.2240G>A (p.Gly747Asp)	ZNF493 (G619D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258404	NM_001076678.3(ZNF493):c.145C>G (p.Leu49Val)	ZNF493 (L49V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258403	NM_001076678.3(ZNF493):c.1933G>T (p.Ala645Ser)	ZNF493 (A517S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258401	NM_001076678.3(ZNF493):c.2002A>G (p.Ile668Val)	ZNF493 (I540V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258400	NM_001076678.3(ZNF493):c.515A>G (p.His172Arg)	ZNF493 (H44R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196171	NM_001076678.3(ZNF493):c.719A>G (p.Tyr240Cys)	ZNF493 (Y112C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196170	NM_001076678.3(ZNF493):c.713A>G (p.Tyr238Cys)	ZNF493 (Y238C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196169	NM_001076678.3(ZNF493):c.617G>C (p.Arg206Thr)	ZNF493 (R78T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196168	NM_001076678.3(ZNF493):c.35C>A (p.Pro12Gln)	ZNF493 (P12Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196167	NM_001076678.3(ZNF493):c.216G>C (p.Trp72Cys)	ZNF493 (W72C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196166	NM_001076678.3(ZNF493):c.2084A>G (p.Tyr695Cys)	ZNF493 (Y567C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196165	NM_001076678.3(ZNF493):c.1772A>C (p.His591Pro)	ZNF493 (H463P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196164	NM_001076678.3(ZNF493):c.1663A>G (p.Asn555Asp)	ZNF493 (N427D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196163	NM_001076678.3(ZNF493):c.1576T>C (p.Phe526Leu)	ZNF493 (F398L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196162	NM_001076678.3(ZNF493):c.1424C>T (p.Thr475Ile)	ZNF493 (T475I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196161	NM_001076678.3(ZNF493):c.1413A>C (p.Lys471Asn)	ZNF493 (K343N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196160	NM_001076678.3(ZNF493):c.1144T>C (p.Cys382Arg)	ZNF493 (C254R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196159	NM_001076678.3(ZNF493):c.1089C>G (p.His363Gln)	ZNF493 (H235Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196158	NM_001076678.3(ZNF493):c.1036G>A (p.Glu346Lys)	ZNF493 (E346K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649622	NM_001076678.3(ZNF493):c.632G>A (p.Arg211Gln)	ZNF493 (R211Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2649621	NM_001076678.3(ZNF493):c.609T>A (p.Ile203=)	ZNF493	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596950	NM_001076678.3(ZNF493):c.394T>G (p.Cys132Gly)	ZNF493 (C132G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556269	NM_001076678.3(ZNF493):c.1927C>T (p.His643Tyr)	ZNF493 (H643Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532872	NM_001076678.3(ZNF493):c.475T>C (p.Tyr159His)	ZNF493 (Y159H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510197	NM_001076678.3(ZNF493):c.236C>T (p.Thr79Met)	ZNF493 (T79M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2507441	NM_001076678.3(ZNF493):c.667T>A (p.Ser223Thr)	ZNF493 (S223T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475648	NM_001076678.3(ZNF493):c.1588T>C (p.Ser530Pro)	ZNF493 (S402P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468750	NM_001076678.3(ZNF493):c.1295C>T (p.Pro432Leu)	ZNF493 (P432L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464469	NM_001076678.3(ZNF493):c.764A>C (p.His255Pro)	ZNF493 (H255P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463669	NM_001076678.3(ZNF493):c.1953T>G (p.His651Gln)	ZNF493 (H523Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411510	NM_001076678.3(ZNF493):c.658A>T (p.Ile220Phe)	ZNF493 (I220F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406540	NM_001076678.3(ZNF493):c.2042A>C (p.Glu681Ala)	ZNF493 (E553A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367317	NM_001076678.3(ZNF493):c.428A>G (p.Asn143Ser)	ZNF493 (N143S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357195	NM_001076678.3(ZNF493):c.1615C>A (p.His539Asn)	ZNF493 (H411N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352367	NM_001076678.3(ZNF493):c.4C>A (p.Pro2Thr)	ZNF493 (P2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330330	NM_001076678.3(ZNF493):c.518A>G (p.Asn173Ser)	ZNF493 (N173S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306723	NM_001076678.3(ZNF493):c.2108A>G (p.His703Arg)	ZNF493 (H575R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289370	NM_001076678.3(ZNF493):c.1301A>G (p.Lys434Arg)	ZNF493 (K306R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283172	NM_001076678.3(ZNF493):c.1760C>T (p.Thr587Ile)	ZNF493 (T587I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277658	NM_001076678.3(ZNF493):c.409G>A (p.Glu137Lys)	ZNF493 (E9K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271171	NM_001076678.3(ZNF493):c.846G>T (p.Arg282Ser)	ZNF493 (R154S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270953	NM_001076678.3(ZNF493):c.234T>G (p.Ser78Arg)	ZNF493 (S79R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242182	NM_001076678.3(ZNF493):c.1166T>C (p.Phe389Ser)	ZNF493 (F261S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236968	NM_001076678.3(ZNF493):c.1247A>C (p.Glu416Ala)	ZNF493 (E416A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234878	NM_001076678.3(ZNF493):c.1956T>G (p.Ser652Arg)	ZNF493 (S524R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226902	NM_001076678.3(ZNF493):c.2105C>T (p.Thr702Met)	ZNF493 (T574M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211554	NM_001076678.3(ZNF493):c.550T>G (p.Cys184Gly)	ZNF493 (C184G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210203	NM_001076678.3(ZNF493):c.2255G>A (p.Arg752Gln)	ZNF493 (R624Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208679	NM_001076678.3(ZNF493):c.1700A>G (p.His567Arg)	ZNF493 (H439R +1 more)	Single nucleotide variant (missense variant)	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 564603	GRCh37/hg19 19p13.11-12(chr19:19903805-21966609)x1	ZNF737, ZNF708 +14 more	Copy number loss	not provided	GUncertain significance
Select item 564592	GRCh37/hg19 19p12(chr19:21544570-21986301)x3	ZNF429, ZNF493 +1 more	Copy number gain	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 395467	GRCh37/hg19 19p12(chr19:21581064-21609065)x3	ZNF493	Copy number gain	See cases	GLikely benign
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 153725	GRCh38/hg38 19p12(chr19:20637987-21976216)x3	LINC00664, LOC105372321 +27 more	Copy number gain	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	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 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 69