ZNF8-DT[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 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
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 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 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 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 2223758	NM_014480.4(ZNF544):c.268A>C (p.Asn90His)	ZNF544, ZNF8-DT (N62H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523283	NM_014480.4(ZNF544):c.293G>A (p.Arg98Gln)	ZNF544, ZNF8-DT (R70Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258617	NM_014480.4(ZNF544):c.333G>C (p.Arg111Ser)	ZNF544, ZNF8-DT (R165S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277983	NM_014480.4(ZNF544):c.358T>A (p.Leu120Met)	ZNF544, ZNF8-DT (L100M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311058	NM_014480.4(ZNF544):c.378A>C (p.Gln126His)	ZNF544, ZNF8-DT (Q98H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2236512	NM_014480.4(ZNF544):c.472G>A (p.Glu158Lys)	ZNF544, ZNF8-DT (E138K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496399	NM_014480.4(ZNF544):c.484G>T (p.Gly162Trp)	ZNF544, ZNF8-DT (G162W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196586	NM_014480.4(ZNF544):c.512T>C (p.Leu171Ser)	ZNF544, ZNF8-DT (L143S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294496	NM_014480.4(ZNF544):c.548G>A (p.Gly183Asp)	ZNF544, ZNF8-DT (G163D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462747	NM_014480.4(ZNF544):c.578A>G (p.Glu193Gly)	ZNF544, ZNF8-DT (E247G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258615	NM_014480.4(ZNF544):c.588A>T (p.Gln196His)	ZNF544, ZNF8-DT (Q250H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196587	NM_014480.4(ZNF544):c.644G>A (p.Ser215Asn)	ZNF544, ZNF8-DT (S187N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3258611	NM_014480.4(ZNF544):c.649C>A (p.Gln217Lys)	ZNF544, ZNF8-DT (Q197K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196588	NM_014480.4(ZNF544):c.655G>A (p.Ala219Thr)	ZNF544, ZNF8-DT (A273T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461755	NM_014480.4(ZNF544):c.676A>G (p.Ile226Val)	ZNF544, ZNF8-DT (I198V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258612	NM_014480.4(ZNF544):c.700G>A (p.Val234Ile)	ZNF544, ZNF8-DT (V214I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2545765	NM_014480.4(ZNF544):c.713A>G (p.Lys238Arg)	ZNF544, ZNF8-DT (K218R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196590	NM_014480.4(ZNF544):c.791T>C (p.Phe264Ser)	ZNF544, ZNF8-DT (F236S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242702	NM_014480.4(ZNF544):c.818A>G (p.Lys273Arg)	ZNF544, ZNF8-DT (K273R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496534	NM_014480.4(ZNF544):c.835T>C (p.Phe279Leu)	ZNF544, ZNF8-DT (F251L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2650585	NM_014480.4(ZNF544):c.882G>A (p.Gly294=)	ZNF544, ZNF8-DT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2358874	NM_014480.4(ZNF544):c.911G>A (p.Arg304Lys)	ZNF544, ZNF8-DT (R276K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2457978	NM_014480.4(ZNF544):c.912G>C (p.Arg304Ser)	ZNF544, ZNF8-DT (R276S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258616	NM_014480.4(ZNF544):c.984T>G (p.Cys328Trp)	ZNF544, ZNF8-DT (C328W +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3196572	NM_014480.4(ZNF544):c.1009A>G (p.Met337Val)	ZNF544, ZNF8-DT (M309V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3196573	NM_014480.4(ZNF544):c.1046C>G (p.Thr349Ser)	ZNF544, ZNF8-DT (T114S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223756	NM_014480.4(ZNF544):c.1081A>G (p.Lys361Glu)	ZNF544, ZNF8-DT (K361E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258613	NM_014480.4(ZNF544):c.1084T>C (p.Ser362Pro)	ZNF544, ZNF8-DT (S362P +4 more)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 3196574	NM_014480.4(ZNF544):c.1247C>T (p.Ser416Phe)	ZNF544, ZNF8-DT (S470F +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196575	NM_014480.4(ZNF544):c.1249T>C (p.Phe417Leu)	ZNF544, ZNF8-DT (F417L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472759	NM_014480.4(ZNF544):c.1256A>T (p.Gln419Leu)	ZNF544, ZNF8-DT (Q184L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460613	NM_014480.4(ZNF544):c.1271T>C (p.Ile424Thr)	ZNF544, ZNF8-DT (I396T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284251	NM_014480.4(ZNF544):c.1283G>A (p.Arg428Gln)	ZNF544, ZNF8-DT (R193Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223757	NM_014480.4(ZNF544):c.1285A>G (p.Ile429Val)	ZNF544, ZNF8-DT (I429V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196576	NM_014480.4(ZNF544):c.1318G>C (p.Glu440Gln)	ZNF544, ZNF8-DT (E412Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385740	NM_014480.4(ZNF544):c.1388C>A (p.Pro463Gln)	ZNF544, ZNF8-DT (P228Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196577	NM_014480.4(ZNF544):c.1396T>C (p.Cys466Arg)	ZNF544, ZNF8-DT (C466R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397675	NM_014480.4(ZNF544):c.1412A>T (p.Lys471Met)	ZNF544, ZNF8-DT (K451M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196578	NM_014480.4(ZNF544):c.1453A>G (p.Thr485Ala)	ZNF544, ZNF8-DT (T250A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523611	NM_014480.4(ZNF544):c.1454C>T (p.Thr485Met)	ZNF544, ZNF8-DT (T457M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258614	NM_014480.4(ZNF544):c.1466A>G (p.Glu489Gly)	ZNF544, ZNF8-DT (E254G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303151	NM_014480.4(ZNF544):c.1471C>A (p.Pro491Thr)	ZNF544, ZNF8-DT (P491T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303765	NM_014480.4(ZNF544):c.1487A>T (p.Gln496Leu)	ZNF544, ZNF8-DT (Q261L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322727	NM_014480.4(ZNF544):c.1568A>G (p.Asn523Ser)	ZNF544, ZNF8-DT (N577S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546348	NM_014480.4(ZNF544):c.1619G>A (p.Arg540Gln)	ZNF544, ZNF8-DT (R512Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196580	NM_014480.4(ZNF544):c.1673G>C (p.Arg558Thr)	ZNF544, ZNF8-DT (R323T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2380380	NM_014480.4(ZNF544):c.1690G>A (p.Val564Ile)	ZNF544, ZNF8-DT (V544I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2469145	NM_014480.4(ZNF544):c.1724C>T (p.Pro575Leu)	ZNF544, ZNF8-DT (P340L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196581	NM_014480.4(ZNF544):c.1790C>T (p.Thr597Ile)	ZNF544, ZNF8-DT (T362I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196583	NM_014480.4(ZNF544):c.1822G>A (p.Glu608Lys)	ZNF544, ZNF8-DT (E580K +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3258610	NM_014480.4(ZNF544):c.1825T>C (p.Cys609Arg)	ZNF544, ZNF8-DT (C374R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2473169	NM_014480.4(ZNF544):c.1841A>G (p.Asn614Ser)	ZNF544, ZNF8-DT (N614S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3196584	NM_014480.4(ZNF544):c.1859T>C (p.Ile620Thr)	ZNF544, ZNF8-DT (I674T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238681	NM_014480.4(ZNF544):c.1892C>T (p.Pro631Leu)	ZNF544, ZNF8-DT (P603L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350885	NM_014480.4(ZNF544):c.1902C>G (p.Cys634Trp)	ZNF544, ZNF8-DT (C634W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2618498	NM_014480.4(ZNF544):c.1907A>G (p.Gln636Arg)	ZNF544, ZNF8-DT (Q401R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2215488	NM_014480.4(ZNF544):c.1936T>C (p.Tyr646His)	ZNF544, ZNF8-DT (Y618H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2257625	NM_014480.4(ZNF544):c.1966G>C (p.Gly656Arg)	ZNF544, ZNF8-DT (G421R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257626	NM_014480.4(ZNF544):c.1967G>A (p.Gly656Asp)	ZNF544, ZNF8-DT (G636D +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2352560	NM_014480.4(ZNF544):c.2032C>T (p.His678Tyr)	ZNF544, ZNF8-DT (H443Y +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 782927	NM_014480.4(ZNF544):c.2069_2072dup (p.Ser691delinsArgTer)	ZNF544, ZNF8-DT	Duplication (nonsense +2 more)	not provided	GBenign
Select item 2592476	NM_014480.4(ZNF544):c.2093G>A (p.Arg698Gln)	ZNF544, ZNF8-DT (R752Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 73