ClinVar for Gene (Select 199777) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258967	NM_001076675.3(ZNF626):c.1370A>G (p.Glu457Gly)	ZNF626 (E457G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197323	NM_001076675.3(ZNF626):c.993T>A (p.His331Gln)	ZNF626 (H331Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197322	NM_001076675.3(ZNF626):c.89G>A (p.Arg30Lys)	ZNF626 (R30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197321	NM_001076675.3(ZNF626):c.886C>T (p.Arg296Trp)	ZNF626 (R296W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197320	NM_001076675.3(ZNF626):c.475A>G (p.Asn159Asp)	ZNF626 (N159D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197318	NM_001076675.3(ZNF626):c.361G>A (p.Asp121Asn)	ZNF626 (D121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197317	NM_001076675.3(ZNF626):c.1511T>C (p.Leu504Pro)	ZNF626 (L504P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197316	NM_001076675.3(ZNF626):c.1305C>A (p.Asn435Lys)	ZNF626 (N435K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197315	NM_001076675.3(ZNF626):c.1157C>T (p.Thr386Met)	ZNF626 (T386M)	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 2649619	NM_001076675.3(ZNF626):c.912G>A (p.Lys304=)	ZNF626	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649618	NM_001076675.3(ZNF626):c.1398T>A (p.Ser466=)	ZNF626	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598007	NM_001076675.3(ZNF626):c.535G>A (p.Gly179Ser)	ZNF626 (G179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556477	NM_001076675.3(ZNF626):c.1080G>C (p.Lys360Asn)	ZNF626 (K360N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555529	NM_001076675.3(ZNF626):c.256T>C (p.Trp86Arg)	ZNF626 (W86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551479	NM_001076675.3(ZNF626):c.107A>G (p.Asn36Ser)	ZNF626 (N36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538753	NM_001076675.3(ZNF626):c.181A>G (p.Lys61Glu)	ZNF626 (K61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533843	NM_001076675.3(ZNF626):c.1079A>G (p.Lys360Arg)	ZNF626 (K360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518829	NM_001076675.3(ZNF626):c.51G>C (p.Glu17Asp)	ZNF626 (E17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515008	NM_001076675.3(ZNF626):c.113G>A (p.Ser38Asn)	ZNF626 (S38N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492015	NM_001076675.3(ZNF626):c.706A>G (p.Lys236Glu)	ZNF626 (K236E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465930	NM_001076675.3(ZNF626):c.734C>G (p.Thr245Ser)	ZNF626 (T245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388532	NM_001076675.3(ZNF626):c.412A>T (p.Thr138Ser)	ZNF626 (T138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384199	NM_001076675.3(ZNF626):c.121G>A (p.Val41Ile)	ZNF626 (V41I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363620	NM_001076675.3(ZNF626):c.1558G>A (p.Gly520Ser)	ZNF626 (R464Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361407	NM_001076675.3(ZNF626):c.258G>C (p.Trp86Cys)	ZNF626 (W86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358862	NM_001076675.3(ZNF626):c.1439C>A (p.Pro480His)	ZNF626 (P480H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358627	NM_001076675.3(ZNF626):c.1139G>A (p.Arg380Gln)	ZNF626 (R380Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346289	NM_001076675.3(ZNF626):c.1522T>C (p.Ser508Pro)	ZNF626 (F452S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330714	NM_001076675.3(ZNF626):c.485G>A (p.Gly162Glu)	ZNF626 (G162E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330160	NM_001076675.3(ZNF626):c.836A>T (p.His279Leu)	ZNF626 (H279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311176	NM_001076675.3(ZNF626):c.974C>T (p.Ser325Phe)	ZNF626 (S325F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286207	NM_001076675.3(ZNF626):c.1579A>G (p.Ile527Val)	ZNF626 (I527V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266857	NM_001076675.3(ZNF626):c.154C>A (p.Leu52Met)	ZNF626 (L52M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259557	NM_001076675.3(ZNF626):c.628T>C (p.Phe210Leu)	ZNF626 (F210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236519	NM_001076675.3(ZNF626):c.276A>C (p.Lys92Asn)	ZNF626 (K92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226869	NM_001076675.3(ZNF626):c.1438C>T (p.Pro480Ser)	ZNF626 (P480S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222588	NM_001076675.3(ZNF626):c.1436G>C (p.Arg479Thr)	ZNF626 (R479T)	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 590953	GRCh37/hg19 19p12(chr19:20834979-20987550)	ZNF626	Copy number gain	Aortic valve disease 1	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 221883	GRCh37/hg19 19p12(chr19:20835290-20987550)x3	ZNF626	Copy number gain	Premature ovarian failure	GBenign
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 155171	GRCh38/hg38 19p12(chr19:20577633-21096146)x3	LOC126862885, LOC130064096 +6 more	Copy number gain	See cases	GLikely benign
Select item 153901	GRCh38/hg38 19p12(chr19:20335167-20634322)x1	ERVS71-1, LOC130064093 +5 more	Copy number loss	See cases	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 151485	GRCh38/hg38 19p12(chr19:20647266-20818343)x3	LOC130064096, ZNF626 +1 more	Copy number gain	See cases	GBenign
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 145083	GRCh38/hg38 19p12(chr19:20647266-20763794)x3	LOC130064096, ZNF626	Copy number gain	See cases	GBenign
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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 58