ZNF626[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 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
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 153901	GRCh38/hg38 19p12(chr19:20335167-20634322)x1	ERVS71-1, LOC130064093 +5 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 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 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 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 3197317	NM_001076675.3(ZNF626):c.1511T>C (p.Leu504Pro)	ZNF626 (L504P)	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 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 2649618	NM_001076675.3(ZNF626):c.1398T>A (p.Ser466=)	ZNF626	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2358627	NM_001076675.3(ZNF626):c.1139G>A (p.Arg380Gln)	ZNF626 (R380Q)	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 2533843	NM_001076675.3(ZNF626):c.1079A>G (p.Lys360Arg)	ZNF626 (K360R)	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 2311176	NM_001076675.3(ZNF626):c.974C>T (p.Ser325Phe)	ZNF626 (S325F)	Single nucleotide variant (missense variant)	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 3197321	NM_001076675.3(ZNF626):c.886C>T (p.Arg296Trp)	ZNF626 (R296W)	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 2465930	NM_001076675.3(ZNF626):c.734C>G (p.Thr245Ser)	ZNF626 (T245S)	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 2259557	NM_001076675.3(ZNF626):c.628T>C (p.Phe210Leu)	ZNF626 (F210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2330714	NM_001076675.3(ZNF626):c.485G>A (p.Gly162Glu)	ZNF626 (G162E)	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 2388532	NM_001076675.3(ZNF626):c.412A>T (p.Thr138Ser)	ZNF626 (T138S)	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 2236519	NM_001076675.3(ZNF626):c.276A>C (p.Lys92Asn)	ZNF626 (K92N)	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 2555529	NM_001076675.3(ZNF626):c.256T>C (p.Trp86Arg)	ZNF626 (W86R)	Single nucleotide variant (missense variant)	not specified	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 2538753	NM_001076675.3(ZNF626):c.181A>G (p.Lys61Glu)	ZNF626 (K61E)	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 2384199	NM_001076675.3(ZNF626):c.121G>A (p.Val41Ile)	ZNF626 (V41I)	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 2551479	NM_001076675.3(ZNF626):c.107A>G (p.Asn36Ser)	ZNF626 (N36S)	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 2518829	NM_001076675.3(ZNF626):c.51G>C (p.Glu17Asp)	ZNF626 (E17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151485	GRCh38/hg38 19p12(chr19:20647266-20818343)x3	LOC130064096, ZNF626 +1 more	Copy number gain	See cases	GBenign
Select item 145083	GRCh38/hg38 19p12(chr19:20647266-20763794)x3	LOC130064096, ZNF626	Copy number gain	See cases	GBenign
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 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

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Items: 58