ClinVar for Gene (Select 91120) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259186	NM_033196.3(ZNF682):c.1027T>C (p.Cys343Arg)	ZNF682 (C311R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259184	NM_033196.3(ZNF682):c.1370A>G (p.Glu457Gly)	ZNF682 (E457G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259183	NM_033196.3(ZNF682):c.857C>T (p.Thr286Ile)	ZNF682 (T286I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259182	NM_033196.3(ZNF682):c.287A>C (p.Gln96Pro)	ZNF682 (Q64P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197717	NM_033196.3(ZNF682):c.976T>C (p.Ser326Pro)	ZNF682 (S294P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197714	NM_033196.3(ZNF682):c.549A>C (p.Lys183Asn)	ZNF682 (K151N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197713	NM_033196.3(ZNF682):c.194T>G (p.Val65Gly)	ZNF682 (V33G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197712	NM_033196.3(ZNF682):c.14C>T (p.Thr5Ile)	ZNF682 (T5I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3197710	NM_033196.3(ZNF682):c.1373G>A (p.Cys458Tyr)	ZNF682 (C458Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197709	NM_033196.3(ZNF682):c.1354C>T (p.Arg452Cys)	ZNF682 (R452C +1 more)	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 2598474	NM_033196.3(ZNF682):c.1408G>C (p.Glu470Gln)	ZNF682 (E438Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596204	NM_033196.3(ZNF682):c.1093G>A (p.Gly365Arg)	ZNF682 (G365R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590649	NM_033196.3(ZNF682):c.1231A>G (p.Ile411Val)	ZNF682 (I411V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568874	NM_033196.3(ZNF682):c.47A>T (p.Glu16Val)	ZNF682 (E16V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2556703	NM_033196.3(ZNF682):c.1324A>G (p.Arg442Gly)	ZNF682 (R442G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525708	NM_033196.3(ZNF682):c.450T>G (p.Cys150Trp)	ZNF682 (C118W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517133	NM_033196.3(ZNF682):c.967A>G (p.Asn323Asp)	ZNF682 (N291D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476346	NM_033196.3(ZNF682):c.1168A>G (p.Ile390Val)	ZNF682 (I390V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467098	NM_033196.3(ZNF682):c.1262G>T (p.Gly421Val)	ZNF682 (G389V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393030	NM_033196.3(ZNF682):c.1161C>A (p.His387Gln)	ZNF682 (H355Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385670	NM_033196.3(ZNF682):c.584A>G (p.His195Arg)	ZNF682 (H195R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352506	NM_033196.3(ZNF682):c.1405A>G (p.Asn469Asp)	ZNF682 (N437D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317473	NM_033196.3(ZNF682):c.1489A>C (p.Thr497Pro)	ZNF682 (T465P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304893	NM_033196.3(ZNF682):c.509A>G (p.Glu170Gly)	ZNF682 (E170G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295711	NM_033196.3(ZNF682):c.95T>G (p.Val32Gly)	ZNF682 (V32G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2260178	NM_033196.3(ZNF682):c.1001C>T (p.Thr334Ile)	ZNF682 (T302I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244803	NM_033196.3(ZNF682):c.440A>T (p.Tyr147Phe)	ZNF682 (Y147F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221800	NM_033196.3(ZNF682):c.346G>A (p.Asp116Asn)	ZNF682 (D116N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206800	NM_033196.3(ZNF682):c.646C>G (p.Leu216Val)	ZNF682 (L184V +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 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)	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 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 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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Germline classification

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Links from Gene

Items: 44