ClinVar for Gene (Select 169270) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258842	NM_001042416.3(ZNF596):c.181C>G (p.Gln61Glu)	ZNF596 (Q61E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258841	NM_001042416.3(ZNF596):c.313C>T (p.His105Tyr)	ZNF596 (H105Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258840	NM_001042416.3(ZNF596):c.256C>A (p.Pro86Thr)	ZNF596 (P86T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258838	NM_001042416.3(ZNF596):c.592C>A (p.Arg198Ser)	ZNF596 (R65S +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 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 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 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 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 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 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 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 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 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 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 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 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063018	GRCh37/hg19 8p23.3-23.2(chr8:158048-5813459)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685284	GRCh37/hg19 8p23.3(chr8:158049-2190480)x1	ARHGEF10, CLN8 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685283	GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1	DEFB104A, DEFB104B +39 more	Copy number loss	not provided	GPathogenic
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB105A, DEFB107B +64 more	Copy number loss	not provided	GPathogenic
Select item 2685281	GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1	DEFB1, DEFB107A +46 more	Copy number loss	not provided	GPathogenic
Select item 2685280	GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1	CLN8, CSMD1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2684515	GRCh37/hg19 8p23.3-23.1(chr8:158049-7044046)x3	AGPAT5, ANGPT2 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2684514	GRCh37/hg19 8p23.3-23.2(chr8:158049-5762015)x3	ARHGEF10, CLN8 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2671622	Single allele	AGPAT5, ANGPT2 +22 more	Deletion	not provided	GPathogenic
Select item 2658289	NM_001042416.3(ZNF596):c.1272C>T (p.Cys424=)	ZNF596	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2580354	GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)x1	TDRP, ZNF596 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1808721	GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 1808425	GRCh37/hg19 8p23.3-23.2(chr8:158049-4608757)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 1807783	GRCh37/hg19 8p23.3-23.2(chr8:158049-5033424)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1708195	GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1	AGPAT5, ANGPT2 +56 more	Copy number loss	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703666	GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413)	AGPAT5, ANGPT2 +46 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527419	GRCh37/hg19 8p23.3-23.2(chr8:158048-2707158)	ARHGEF10, CLN8 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1339975	GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	not provided	GPathogenic
Select item 1330178	GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1	FBXO25, USP17L4 +22 more	Copy number loss	Single transverse palmar crease +6 more	GPathogenic
Select item 1328106	GRCh37/hg19 8p23.3-23.2(chr8:162190-4698813)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980867	GRCh37/hg19 8p23.3(chr8:158048-2081207)x1	ARHGEF10, CLN8 +7 more	Copy number loss	not provided	GPathogenic
Select item 980866	GRCh37/hg19 8p23.3(chr8:158048-1411510)x1	ERICH1, FBXO25 +2 more	Copy number loss	not provided	GPathogenic
Select item 979227	GRCh37/hg19 8p23.3-23.2(chr8:158048-3476104)x1	MYOM2, TDRP +8 more	Copy number loss	not provided	GPathogenic
Select item 974794	GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1	DEFB106B, XKR5 +57 more	Copy number loss	Intellectual disability +1 more	GPathogenic
Select item 815067	GRCh37/hg19 8p23.3-23.2(chr8:158048-4188901)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 815066	GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1	AGPAT5, ANGPT2 +43 more	Copy number loss	not provided	GPathogenic
Select item 815065	GRCh37/hg19 8p23.3-23.1(chr8:158048-8102819)x3	AGPAT5, ANGPT2 +39 more	Copy number gain	not provided	GPathogenic
Select item 815064	GRCh37/hg19 8p23.3(chr8:158048-704967)x3	ERICH1, ZNF596 +2 more	Copy number gain	not provided	GLikely benign
Select item 815063	GRCh37/hg19 8p23.3(chr8:158048-526563)x3	ZNF596, TDRP +1 more	Copy number gain	not provided	GLikely benign
Select item 688520	GRCh37/hg19 8p23.3-23.1(chr8:158048-6828766)x1	AGPAT5, ANGPT2 +15 more	Copy number loss	not provided	GPathogenic
Select item 688425	GRCh37/hg19 8p23.3-23.1(chr8:158048-6219809)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687060	GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1	USP17L4, USP17L7 +75 more	Copy number loss	not provided	GPathogenic
Select item 686653	GRCh37/hg19 8p23.3(chr8:158048-1737931)x1	CLN8, DLGAP2 +4 more	Copy number loss	not provided	GPathogenic
Select item 686293	GRCh37/hg19 8p23.3-23.1(chr8:158048-6984438)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 685634	GRCh37/hg19 8p23.3-23.1(chr8:158048-6969688)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 685445	GRCh37/hg19 8p23.3-23.1(chr8:158048-6940661)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 684955	GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1	AGPAT5, ANGPT2 +43 more	Copy number loss	not provided	GPathogenic
Select item 626289	Single allele	AGPAT5, ANGPT2 +19 more	Deletion	not provided	GLikely pathogenic
Select item 625670	GRCh37/hg19 8p23.3-23.1(chr8:184617-6804328)	AGPAT5, ANGPT2 +15 more	Copy number gain	not provided	GPathogenic
Select item 625669	GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)	AGPAT5, ANGPT2 +37 more	Copy number loss	Tetralogy of Fallot	GPathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic
Select item 625667	GRCh37/hg19 8p23.3(chr8:184617-2136799)	ARHGEF10, CLN8 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 624505	GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1	AGPAT5, ANGPT2 +36 more	Copy number loss	not provided	GLikely pathogenic
Select item 563551	GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	LONRF1, NEIL2 +76 more	Copy number gain	not provided	GPathogenic
Select item 563550	GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	DEFB105A, USP17L1 +75 more	Copy number gain	not provided	GPathogenic

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