ZNF596[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 60328	GRCh38/hg38 8p23.3(chr8:202100-2017223)x1	LOC126860273, LOC126860274 +49 more	Copy number loss	See cases	GPathogenic
Select item 155691	GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4	LOC129999788, LOC129999789 +126 more	Copy number gain	See cases	GPathogenic
Select item 155587	GRCh38/hg38 8p23.3-23.2(chr8:208048-5615542)x1	ARHGEF10, CLN8 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 155445	GRCh38/hg38 8p23.3(chr8:208048-1576545)x3	DLGAP2, DLGAP2-AS1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 155440	GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 155311	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GUncertain significance
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 151750	GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 151132	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60330	GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60329	GRCh38/hg38 8p23.3-23.2(chr8:219853-3814398)x1	ARHGEF10, CLN8 +68 more	Copy number loss	See cases	GPathogenic
Select item 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	AGPAT5, ANGPT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 155178	GRCh38/hg38 8p23.3(chr8:226452-1670285)x1	DLGAP2, DLGAP2-AS1 +32 more	Copy number loss	See cases	GUncertain significance
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154744	GRCh38/hg38 8p23.3-23.2(chr8:226452-4316172)x1	ARHGEF10, CLN8 +69 more	Copy number loss	See cases	GUncertain significance
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	AGPAT5, ANGPT2 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 152253	GRCh38/hg38 8p23.3(chr8:226452-2017223)x1	ARHGEF10, CLN8 +48 more	Copy number loss	See cases	GPathogenic
Select item 150616	GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 150497	GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 150139	GRCh38/hg38 8p23.3-23.2(chr8:226452-2767932)x1	ARHGEF10, CLN8 +59 more	Copy number loss	See cases	GUncertain significance
Select item 149175	GRCh38/hg38 8p23.3(chr8:226452-1073572)x1	DLGAP2, ERICH1 +20 more	Copy number loss	See cases	GUncertain significance
Select item 149174	GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3	AGPAT5, ANGPT2 +172 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	AGPAT5, ANGPT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	ADAM28, ADAM7 +1103 more	Copy number gain	See cases	GPathogenic
Select item 148183	GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GLikely pathogenic
Select item 161038	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 161036	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3	AGPAT5, ANGPT2 +166 more	Copy number gain	See cases	GPathogenic
Select item 160883	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	FAM90A24, FAM90A3 +256 more	Copy number loss	See cases	GPathogenic
Select item 147663	GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 147569	GRCh38/hg38 8p23.3-23.2(chr8:241530-3331813)x1	ARHGEF10, CLN8 +64 more	Copy number loss	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC126860290, LOC126860291 +687 more	Copy number gain	See cases	GPathogenic
Select item 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 146114	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3	AGPAT5, ANGPT2 +123 more	Copy number gain	See cases	GPathogenic
Select item 145578	GRCh38/hg38 8p23.3-23.2(chr8:241530-3212774)x1	ARHGEF10, CLN8 +64 more	Copy number loss	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	AGPAT5, ANGPT2 +253 more	Copy number loss	See cases	GPathogenic
Select item 144291	GRCh38/hg38 8p23.3(chr8:241530-451413)x3	FAM87A, FBXO25 +6 more	Copy number gain	See cases	GUncertain significance
Select item 60342	GRCh38/hg38 8p23.3-23.2(chr8:241530-3701826)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GPathogenic
Select item 60341	GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	AGPAT5, ANGPT2 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 57311	GRCh38/hg38 8p23.3(chr8:241530-1371695)x1	DLGAP2, ERICH1 +26 more	Copy number loss	See cases	GPathogenic
Select item 57012	GRCh38/hg38 8p23.3(chr8:241530-764384)x1	DLGAP2, ERICH1 +13 more	Copy number loss	See cases	GPathogenic
Select item 34125	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 32742	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999981, LOC129999982 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 146751	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 146750	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3	AGPAT5, ANGPT2 +123 more	Copy number gain	See cases	GPathogenic
Select item 144676	GRCh38/hg38 8p23.3(chr8:241605-458761)x3	FAM87A, FBXO25 +6 more	Copy number gain	See cases	GBenign/Likely benign
Select item 3197058	NM_001042416.3(ZNF596):c.28G>A (p.Glu10Lys)	ZNF596 (E10K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658288	NM_001042416.3(ZNF596):c.174A>G (p.Gln58=)	ZNF596	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2558941	NM_001042416.3(ZNF596):c.178G>A (p.Glu60Lys)	ZNF596 (E60K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161035	GRCh38/hg38 8p23.3(chr8:244617-2017223)x1	ARHGEF10, CLN8 +46 more	Copy number loss	See cases	GPathogenic
Select item 32497	GRCh38/hg38 8p23.3(chr8:244617-2017223)x1	ARHGEF10, CLN8 +46 more	Copy number loss	See cases	GPathogenic
Select item 2344352	NM_001042416.3(ZNF596):c.362C>G (p.Thr121Ser)	ZNF596 (T121S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616645	NM_001042416.3(ZNF596):c.401T>C (p.Met134Thr)	ZNF596 (M134T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197059	NM_001042416.3(ZNF596):c.405A>T (p.Arg135Ser)	ZNF596 (R135S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266639	NM_001042416.3(ZNF596):c.425A>G (p.Lys142Arg)	ZNF596 (K142R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474696	NM_001042416.3(ZNF596):c.466C>A (p.Gln156Lys)	ZNF596 (Q23K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354353	NM_001042416.3(ZNF596):c.466C>G (p.Gln156Glu)	ZNF596 (Q23E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197060	NM_001042416.3(ZNF596):c.592C>T (p.Arg198Cys)	ZNF596 (R65C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197062	NM_001042416.3(ZNF596):c.593G>A (p.Arg198His)	ZNF596 (R198H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2230017	NM_001042416.3(ZNF596):c.623C>G (p.Ser208Cys)	ZNF596 (S208C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227158	NM_001042416.3(ZNF596):c.716G>A (p.Arg239Gln)	ZNF596 (R106Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458646	NM_001042416.3(ZNF596):c.731C>T (p.Thr244Ile)	ZNF596 (T244I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197063	NM_001042416.3(ZNF596):c.796C>G (p.Leu266Val)	ZNF596 (L133V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616646	NM_001042416.3(ZNF596):c.811A>T (p.Met271Leu)	ZNF596 (M138L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292688	NM_001042416.3(ZNF596):c.821C>G (p.Thr274Ser)	ZNF596 (T141S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197064	NM_001042416.3(ZNF596):c.824G>C (p.Arg275Thr)	ZNF596 (R142T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286620	NM_001042416.3(ZNF596):c.826G>C (p.Glu276Gln)	ZNF596 (E276Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365428	NM_001042416.3(ZNF596):c.1048C>A (p.Leu350Ile)	ZNF596 (L217I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526517	NM_001042416.3(ZNF596):c.1060G>A (p.Glu354Lys)	ZNF596 (E221K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570355	NM_001042416.3(ZNF596):c.1069C>G (p.His357Asp)	ZNF596 (H357D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367159	NM_001042416.3(ZNF596):c.1080G>C (p.Glu360Asp)	ZNF596 (E227D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197052	NM_001042416.3(ZNF596):c.1093T>A (p.Cys365Ser)	ZNF596 (C232S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197053	NM_001042416.3(ZNF596):c.1129G>C (p.Val377Leu)	ZNF596 (V377L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384288	NM_001042416.3(ZNF596):c.1157C>G (p.Thr386Ser)	ZNF596 (T253S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483408	NM_001042416.3(ZNF596):c.1160G>C (p.Gly387Ala)	ZNF596 (G254A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197054	NM_001042416.3(ZNF596):c.1178G>A (p.Cys393Tyr)	ZNF596 (C393Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340940	NM_001042416.3(ZNF596):c.1180C>T (p.His394Tyr)	ZNF596 (H261Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542339	NM_001042416.3(ZNF596):c.1211C>G (p.Ser404Cys)	ZNF596 (S271C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658289	NM_001042416.3(ZNF596):c.1272C>T (p.Cys424=)	ZNF596	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2523177	NM_001042416.3(ZNF596):c.1285A>C (p.Asn429His)	ZNF596 (N429H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518852	NM_001042416.3(ZNF596):c.1297G>A (p.Val433Ile)	ZNF596 (V300I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337725	NM_001042416.3(ZNF596):c.1315A>G (p.Arg439Gly)	ZNF596 (R306G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197055	NM_001042416.3(ZNF596):c.1319C>T (p.Thr440Ile)	ZNF596 (T440I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459036	NM_001042416.3(ZNF596):c.1350T>A (p.Asn450Lys)	ZNF596 (N317K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556119	NM_001042416.3(ZNF596):c.1396A>G (p.Arg466Gly)	ZNF596 (R466G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303152	NM_001042416.3(ZNF596):c.1433C>G (p.Pro478Arg)	ZNF596 (P345R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244609	NM_001042416.3(ZNF596):c.1442G>C (p.Gly481Ala)	ZNF596 (G348A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197056	NM_001042416.3(ZNF596):c.1482G>C (p.Glu494Asp)	ZNF596 (E361D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197057	NM_001042416.3(ZNF596):c.1499A>G (p.Lys500Arg)	ZNF596 (K367R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic

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