ClinVar for Gene (Select 7554) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259601	NM_021089.3(ZNF8):c.425A>G (p.Glu142Gly)	ZNF8, ZNF8-ERVK3-1 (E142G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3259600	NM_021089.3(ZNF8):c.1487A>G (p.His496Arg)	ZNF8, ZNF8-ERVK3-1 (H496R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3259599	NM_021089.3(ZNF8):c.1258G>A (p.Ala420Thr)	ZNF8, ZNF8-ERVK3-1 (A420T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3259598	NM_021089.3(ZNF8):c.1282C>T (p.Arg428Cys)	ZNF8, ZNF8-ERVK3-1 (R428C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3198486	NM_021089.3(ZNF8):c.67G>C (p.Glu23Gln)	ZNF8, ZNF8-ERVK3-1 (E23Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3198485	NM_021089.3(ZNF8):c.59G>A (p.Arg20Gln)	ZNF8, ZNF8-ERVK3-1 (R20Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3198484	NM_021089.3(ZNF8):c.1499G>A (p.Arg500Gln)	ZNF8, ZNF8-ERVK3-1 (R500Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3198482	NM_021089.3(ZNF8):c.1489G>T (p.Gly497Trp)	ZNF8, ZNF8-ERVK3-1 (G497W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3198481	NM_021089.3(ZNF8):c.1385G>A (p.Arg462Gln)	ZNF8, ZNF8-ERVK3-1 (R462Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3198480	NM_021089.3(ZNF8):c.1289G>A (p.Arg430Lys)	ZNF8, ZNF8-ERVK3-1 (R430K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2650586	NM_021089.3(ZNF8):c.1059C>T (p.Asn353=)	ZNF8, ZNF8-ERVK3-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2606501	NM_021089.3(ZNF8):c.343G>C (p.Glu115Gln)	ZNF8, ZNF8-ERVK3-1 (E115Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2554143	NM_021089.3(ZNF8):c.1579G>A (p.Gly527Arg)	ZNF8, ZNF8-ERVK3-1 (G527R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2546571	NM_021089.3(ZNF8):c.962C>T (p.Ser321Phe)	ZNF8, ZNF8-ERVK3-1 (S321F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2538513	NM_021089.3(ZNF8):c.473A>G (p.Gln158Arg)	ZNF8, ZNF8-ERVK3-1 (Q158R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2513983	NM_021089.3(ZNF8):c.712T>A (p.Ser238Thr)	ZNF8, ZNF8-ERVK3-1 (S238T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2488925	NM_021089.3(ZNF8):c.188C>G (p.Ser63Cys)	ZNF8, ZNF8-ERVK3-1 (S63C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2469738	NM_021089.3(ZNF8):c.1498C>T (p.Arg500Trp)	ZNF8, ZNF8-ERVK3-1 (R500W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2465512	NM_021089.3(ZNF8):c.1508A>G (p.Glu503Gly)	ZNF8, ZNF8-ERVK3-1 (E503G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2462008	NM_021089.3(ZNF8):c.1249C>T (p.Arg417Trp)	ZNF8, ZNF8-ERVK3-1 (R417W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2408221	NM_021089.3(ZNF8):c.1600G>A (p.Glu534Lys)	ZNF8, ZNF8-ERVK3-1 (E534K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2406222	NM_021089.3(ZNF8):c.605C>T (p.Thr202Ile)	ZNF8, ZNF8-ERVK3-1 (T202I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2399092	NM_021089.3(ZNF8):c.685G>A (p.Gly229Ser)	ZNF8, ZNF8-ERVK3-1 (G229S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2364027	NM_021089.3(ZNF8):c.1275T>A (p.Phe425Leu)	ZNF8, ZNF8-ERVK3-1 (F425L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2361385	NM_021089.3(ZNF8):c.1450C>T (p.Arg484Trp)	ZNF8, ZNF8-ERVK3-1 (R484W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2359165	NM_021089.3(ZNF8):c.62T>G (p.Leu21Arg)	ZNF8, ZNF8-ERVK3-1 (L21R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2358359	NM_021089.3(ZNF8):c.1007C>A (p.Thr336Asn)	ZNF8, ZNF8-ERVK3-1 (T336N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2350118	NM_021089.3(ZNF8):c.1271C>T (p.Pro424Leu)	ZNF8, ZNF8-ERVK3-1 (P424L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2348369	NM_021089.3(ZNF8):c.610G>A (p.Asp204Asn)	ZNF8, ZNF8-ERVK3-1 (D204N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2348368	NM_021089.3(ZNF8):c.334G>A (p.Gly112Ser)	ZNF8, ZNF8-ERVK3-1 (G112S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2317548	NM_021089.3(ZNF8):c.1505G>A (p.Arg502His)	ZNF8, ZNF8-ERVK3-1 (R502H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2305487	NM_021089.3(ZNF8):c.766C>T (p.Pro256Ser)	ZNF8, ZNF8-ERVK3-1 (P256S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2305356	NM_021089.3(ZNF8):c.530G>C (p.Arg177Thr)	ZNF8, ZNF8-ERVK3-1 (R177T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2285804	NM_021089.3(ZNF8):c.1250G>T (p.Arg417Leu)	ZNF8, ZNF8-ERVK3-1 (R417L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2272609	NM_021089.3(ZNF8):c.803A>G (p.His268Arg)	ZNF8, ZNF8-ERVK3-1 (H268R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2250525	NM_021089.3(ZNF8):c.863A>G (p.Lys288Arg)	ZNF8, ZNF8-ERVK3-1 (K288R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2221835	NM_021089.3(ZNF8):c.1517C>T (p.Ser506Leu)	ZNF8, ZNF8-ERVK3-1 (S506L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2216279	NM_021089.3(ZNF8):c.604A>G (p.Thr202Ala)	ZNF8, ZNF8-ERVK3-1 (T202A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2212647	NM_021089.3(ZNF8):c.551T>C (p.Leu184Pro)	ZNF8, ZNF8-ERVK3-1 (L184P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2203973	NM_021089.3(ZNF8):c.1610C>T (p.Ala537Val)	ZNF8, ZNF8-ERVK3-1 (A537V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 979556	GRCh37/hg19 19q13.43(chr19:58687912-58946147)x3	ZNF132, A1BG +8 more	Copy number gain	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 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 253827	GRCh37/hg19 19q13.43(chr19:58458999-58929684)x3	ZNF329, ZNF135 +14 more	Copy number gain	See cases	GUncertain significance
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 57