ClinVar for Gene (Select 90649) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3196116	NM_052852.4(ZNF486):c.988G>A (p.Ala330Thr)	ZNF486 (A330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196115	NM_052852.4(ZNF486):c.974A>G (p.Asp325Gly)	ZNF486 (D325G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196114	NM_052852.4(ZNF486):c.916C>A (p.Pro306Thr)	ZNF486 (P306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196113	NM_052852.4(ZNF486):c.878C>A (p.Pro293His)	ZNF486 (P293H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196112	NM_052852.4(ZNF486):c.848C>T (p.Thr283Ile)	ZNF486 (T283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196111	NM_052852.4(ZNF486):c.767A>G (p.His256Arg)	ZNF486 (H256R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196110	NM_052852.4(ZNF486):c.661C>T (p.Arg221Trp)	ZNF486 (R221W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196109	NM_052852.4(ZNF486):c.616G>C (p.Gly206Arg)	ZNF486 (G206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196108	NM_052852.4(ZNF486):c.430C>A (p.Gln144Lys)	ZNF486 (Q144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196107	NM_052852.4(ZNF486):c.38T>C (p.Leu13Ser)	ZNF486 (L13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196106	NM_052852.4(ZNF486):c.376T>G (p.Cys126Gly)	ZNF486 (C126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196105	NM_052852.4(ZNF486):c.1241C>T (p.Ala414Val)	ZNF486 (A414V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196104	NM_052852.4(ZNF486):c.1101G>A (p.Met367Ile)	ZNF486 (M367I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196103	NM_052852.4(ZNF486):c.1099A>G (p.Met367Val)	ZNF486 (M367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196102	NM_052852.4(ZNF486):c.1097C>G (p.Thr366Ser)	ZNF486 (T366S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196101	NM_052852.4(ZNF486):c.1081C>T (p.Arg361Cys)	ZNF486 (R361C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196100	NM_052852.4(ZNF486):c.1004C>T (p.Ser335Leu)	ZNF486 (S335L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2649616	NM_052852.4(ZNF486):c.630C>G (p.Tyr210Ter)	ZNF486 (Y210*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2616301	NM_052852.4(ZNF486):c.542C>T (p.Pro181Leu)	ZNF486 (P181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612439	NM_052852.4(ZNF486):c.1187A>T (p.His396Leu)	ZNF486 (H396L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611989	NM_052852.4(ZNF486):c.684T>G (p.His228Gln)	ZNF486 (H228Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605413	NM_052852.4(ZNF486):c.256G>A (p.Val86Met)	ZNF486 (V86M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604131	NM_052852.4(ZNF486):c.850C>T (p.His284Tyr)	ZNF486 (H284Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603244	NM_052852.4(ZNF486):c.113A>G (p.Tyr38Cys)	ZNF486 (Y38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601261	NM_052852.4(ZNF486):c.922A>G (p.Thr308Ala)	ZNF486 (T308A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567721	NM_052852.4(ZNF486):c.560G>T (p.Gly187Val)	ZNF486 (G187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559054	NM_052852.4(ZNF486):c.350A>C (p.His117Pro)	ZNF486 (H117P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545245	NM_052852.4(ZNF486):c.434G>A (p.Cys145Tyr)	ZNF486 (C145Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542130	NM_052852.4(ZNF486):c.356A>G (p.Asn119Ser)	ZNF486 (N119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527707	NM_052852.4(ZNF486):c.425T>C (p.Leu142Pro)	ZNF486 (L142P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521735	NM_052852.4(ZNF486):c.1019A>G (p.His340Arg)	ZNF486 (H340R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510971	NM_052852.4(ZNF486):c.1085C>T (p.Ser362Phe)	ZNF486 (S362F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509245	NM_052852.4(ZNF486):c.118G>A (p.Asp40Asn)	ZNF486 (D40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508394	NM_052852.4(ZNF486):c.1240G>A (p.Ala414Thr)	ZNF486 (A414T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481359	NM_052852.4(ZNF486):c.980G>T (p.Cys327Phe)	ZNF486 (C327F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470656	NM_052852.4(ZNF486):c.1292A>T (p.Glu431Val)	ZNF486 (E431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468250	NM_052852.4(ZNF486):c.1388C>T (p.Thr463Met)	ZNF486 (T463M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378534	NM_052852.4(ZNF486):c.118G>C (p.Asp40His)	ZNF486 (D40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378042	NM_052852.4(ZNF486):c.470G>A (p.Gly157Asp)	ZNF486 (G157D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374717	NM_052852.4(ZNF486):c.962C>T (p.Pro321Leu)	ZNF486 (P321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371693	NM_052852.4(ZNF486):c.611A>T (p.Asp204Val)	ZNF486 (D204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360454	NM_052852.4(ZNF486):c.1198C>T (p.His400Tyr)	ZNF486 (H400Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352444	NM_052852.4(ZNF486):c.968C>T (p.Thr323Met)	ZNF486 (T323M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346929	NM_052852.4(ZNF486):c.1286C>T (p.Thr429Ile)	ZNF486 (T429I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343936	NM_052852.4(ZNF486):c.913C>T (p.His305Tyr)	ZNF486 (H305Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340361	NM_052852.4(ZNF486):c.68C>T (p.Ser23Phe)	ZNF486 (S23F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339649	NM_052852.4(ZNF486):c.962C>A (p.Pro321Gln)	ZNF486 (P321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323124	NM_052852.4(ZNF486):c.484G>A (p.Val162Ile)	ZNF486 (V162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280307	NM_052852.4(ZNF486):c.395G>C (p.Cys132Ser)	ZNF486 (C132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273586	NM_052852.4(ZNF486):c.919G>A (p.Ala307Thr)	ZNF486 (A307T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272644	NM_052852.4(ZNF486):c.1282C>T (p.His428Tyr)	ZNF486 (H428Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203896	NM_052852.4(ZNF486):c.162T>G (p.Ile54Met)	ZNF486 (I54M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808937	GRCh37/hg19 19p12(chr19:20258982-21235052)x3	ZNF430, ZNF486 +3 more	Copy number gain	not provided	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 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816525	GRCh37/hg19 19p13.11-12(chr19:19973452-20499525)x3	ZNF90, ZNF93 +3 more	Copy number gain	See cases	GUncertain significance
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 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394843	GRCh37/hg19 19p12(chr19:20278152-20308753)x3	ZNF486	Copy number gain	See cases	GBenign
Select item 394171	GRCh37/hg19 19p12(chr19:20027329-20576093)x3	ZNF486, ZNF682 +2 more	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 155371	GRCh38/hg38 19p13.11-12(chr19:19767502-21093565)x1	ERVS71-1, LINC00663 +25 more	Copy number loss	See cases	GUncertain significance
Select item 151471	GRCh38/hg38 19p12(chr19:20127738-20218077)x3	ZNF486	Copy number gain	See cases	GLikely benign
Select item 148871	GRCh38/hg38 19p13.11-12(chr19:19859042-20621825)x3	ERVS71-1, LOC125371497 +14 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

ClinVar

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Links from Gene

Items: 70