ClinVar for Gene (Select 58492) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259470	NM_021217.3(ZNF77):c.453C>G (p.Phe151Leu)	ZNF77 (F151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259469	NM_021217.3(ZNF77):c.734G>T (p.Cys245Phe)	ZNF77 (C245F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259468	NM_021217.3(ZNF77):c.1139A>C (p.Tyr380Ser)	ZNF77 (Y380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259467	NM_021217.3(ZNF77):c.235T>G (p.Ser79Ala)	ZNF77 (S79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259466	NM_021217.3(ZNF77):c.214G>T (p.Val72Leu)	ZNF77 (V72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259465	NM_021217.3(ZNF77):c.839C>T (p.Pro280Leu)	ZNF77 (P280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259464	NM_021217.3(ZNF77):c.736G>A (p.Gly246Arg)	ZNF77 (G246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259463	NM_021217.3(ZNF77):c.1367G>A (p.Arg456Gln)	ZNF77 (R456Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259461	NM_021217.3(ZNF77):c.1522C>T (p.Arg508Cys)	ZNF77 (R508C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259460	NM_021217.3(ZNF77):c.1126G>A (p.Gly376Arg)	ZNF77 (G376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259459	NM_021217.3(ZNF77):c.983A>G (p.His328Arg)	ZNF77 (H328R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259458	NM_021217.3(ZNF77):c.163A>G (p.Ser55Gly)	ZNF77 (S55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3248492	NC_000019.9:g.(?_2430909)_(3121177_?)dup	DIRAS1, GADD45B +13 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 3198209	NM_021217.3(ZNF77):c.975G>T (p.Gln325His)	ZNF77 (Q325H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198208	NM_021217.3(ZNF77):c.833G>C (p.Ser278Thr)	ZNF77 (S278T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198207	NM_021217.3(ZNF77):c.800C>T (p.Pro267Leu)	ZNF77 (P267L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198206	NM_021217.3(ZNF77):c.724T>C (p.Cys242Arg)	ZNF77 (C242R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198205	NM_021217.3(ZNF77):c.563A>C (p.Lys188Thr)	ZNF77 (K188T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198202	NM_021217.3(ZNF77):c.185G>C (p.Gly62Ala)	ZNF77 (G62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198201	NM_021217.3(ZNF77):c.173G>A (p.Arg58Lys)	ZNF77 (R58K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198200	NM_021217.3(ZNF77):c.1447G>C (p.Val483Leu)	ZNF77 (V303L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198199	NM_021217.3(ZNF77):c.1395A>T (p.Glu465Asp)	ZNF77 (E285D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198198	NM_021217.3(ZNF77):c.1388C>T (p.Pro463Leu)	ZNF77 (P463L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198197	NM_021217.3(ZNF77):c.1306T>C (p.Phe436Leu)	ZNF77 (F256L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198196	NM_021217.3(ZNF77):c.1066G>A (p.Glu356Lys)	ZNF77 (E356K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2623567	NM_021217.3(ZNF77):c.590C>G (p.Thr197Arg)	ZNF77 (T197R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560438	NM_021217.3(ZNF77):c.862A>G (p.Arg288Gly)	ZNF77 (R288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522221	NM_021217.3(ZNF77):c.1039A>G (p.Ser347Gly)	ZNF77 (S347G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463695	NM_021217.3(ZNF77):c.1537A>C (p.Thr513Pro)	ZNF77 (T513P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423880	NC_000019.9:g.(?_2901044)_(3121449_?)del	GNA11, TLE2 +3 more	Deletion	not provided	GPathogenic
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2405534	NM_021217.3(ZNF77):c.412G>A (p.Glu138Lys)	ZNF77 (E138K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391040	NM_021217.3(ZNF77):c.139A>C (p.Ile47Leu)	ZNF77 (I47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390408	NM_021217.3(ZNF77):c.211A>G (p.Ile71Val)	ZNF77 (I71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390233	NM_021217.3(ZNF77):c.380C>T (p.Ala127Val)	ZNF77 (A127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389532	NM_021217.3(ZNF77):c.1531G>A (p.Val511Met)	ZNF77 (V511M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378347	NM_021217.3(ZNF77):c.976T>A (p.Cys326Ser)	ZNF77 (C326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373048	NM_021217.3(ZNF77):c.1286C>T (p.Thr429Met)	ZNF77 (T429M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370819	NM_021217.3(ZNF77):c.274A>G (p.Thr92Ala)	ZNF77 (T92A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353639	NM_021217.3(ZNF77):c.135T>G (p.Cys45Trp)	ZNF77 (C45W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340755	NM_021217.3(ZNF77):c.865A>G (p.Thr289Ala)	ZNF77 (T289A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337279	NM_021217.3(ZNF77):c.524C>T (p.Ser175Phe)	ZNF77 (S175F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332579	NM_021217.3(ZNF77):c.1427C>A (p.Ala476Asp)	ZNF77 (A476D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329896	NM_021217.3(ZNF77):c.780A>C (p.Arg260Ser)	ZNF77 (R260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328693	NM_021217.3(ZNF77):c.834C>G (p.Ser278Arg)	ZNF77 (S278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307872	NM_021217.3(ZNF77):c.4G>A (p.Asp2Asn)	ZNF77 (D2N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305418	NM_021217.3(ZNF77):c.392T>C (p.Val131Ala)	ZNF77 (V131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296820	NM_021217.3(ZNF77):c.10G>T (p.Val4Leu)	ZNF77 (V4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277984	NM_021217.3(ZNF77):c.1001C>G (p.Thr334Ser)	ZNF77 (T334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277804	NM_021217.3(ZNF77):c.1168G>A (p.Gly390Arg)	ZNF77 (G390R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276304	NM_021217.3(ZNF77):c.539C>T (p.Pro180Leu)	ZNF77 (P180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275344	NM_021217.3(ZNF77):c.1069T>C (p.Cys357Arg)	ZNF77 (C357R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261809	NM_021217.3(ZNF77):c.688C>T (p.His230Tyr)	ZNF77 (H230Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261526	NM_021217.3(ZNF77):c.1321T>G (p.Cys441Gly)	ZNF77 (C441G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259667	NM_021217.3(ZNF77):c.645G>C (p.Gln215His)	ZNF77 (Q215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239502	NM_021217.3(ZNF77):c.316C>A (p.Gln106Lys)	ZNF77 (Q106K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239501	NM_021217.3(ZNF77):c.1426G>A (p.Ala476Thr)	ZNF77 (A476T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234207	NM_021217.3(ZNF77):c.884C>T (p.Pro295Leu)	ZNF77 (P295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226033	NM_021217.3(ZNF77):c.907A>G (p.Lys303Glu)	ZNF77 (K303E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222819	NM_021217.3(ZNF77):c.1103G>A (p.Arg368Gln)	ZNF77 (R368Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208952	NM_021217.3(ZNF77):c.1025A>G (p.His342Arg)	ZNF77 (H342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 768951	NM_021217.3(ZNF77):c.120T>G (p.Leu40=)	ZNF77	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717576	NM_021217.3(ZNF77):c.258T>C (p.Asn86=)	ZNF77	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717575	NM_021217.3(ZNF77):c.523T>G (p.Ser175Ala)	ZNF77 (S175A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717574	NM_021217.3(ZNF77):c.1476C>G (p.Tyr492Ter)	ZNF77 (Y492*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	ATCAY, CACTIN +50 more	Deletion	Internal malformations	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
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 155019	GRCh38/hg38 19p13.3(chr19:2884401-3451078)x3	CELF5, GNA11 +50 more	Copy number gain	See cases	GUncertain significance
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
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 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 85