ClinVar for Gene (Select 348654) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281221	NM_001130009.3(GEN1):c.2174G>A (p.Gly725Glu)	GEN1 (G725E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281220	NM_001130009.3(GEN1):c.1177A>G (p.Asn393Asp)	GEN1 (N393D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281219	NM_001130009.3(GEN1):c.2464C>G (p.His822Asp)	GEN1 (H822D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281218	NM_001130009.3(GEN1):c.2681C>G (p.Pro894Arg)	GEN1 (P894R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247604	NC_000002.11:g.(?_17901486)_(17963206_?)dup	GEN1, SMC6	Duplication	not provided	GUncertain significance
Select item 3247603	NC_000002.11:g.(?_17961235)_(17963206_?)del	GEN1	Deletion	not provided	GUncertain significance
Select item 3247533	NC_000002.11:g.(?_15307172)_(17963206_?)dup	CYRIA, DDX1 +7 more	Duplication	not provided	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3099405	NM_001130009.3(GEN1):c.910G>A (p.Glu304Lys)	GEN1 (E304K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 3021665	NM_001130009.3(GEN1):c.781T>C (p.Cys261Arg)	GEN1 (C261R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021660	NM_001130009.3(GEN1):c.1900T>C (p.Cys634Arg)	GEN1 (C634R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021500	NM_001130009.3(GEN1):c.908C>G (p.Thr303Arg)	GEN1 (T303R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021474	NM_001130009.3(GEN1):c.1810A>G (p.Asn604Asp)	GEN1 (N604D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019903	NM_001130009.3(GEN1):c.2205_2206del (p.Lys736fs)	GEN1 (K736fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3015762	NM_001130009.3(GEN1):c.943A>G (p.Asn315Asp)	GEN1 (N315D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007132	NM_001130009.3(GEN1):c.525+11T>C	GEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006963	NM_001130009.3(GEN1):c.133A>G (p.Met45Val)	GEN1 (M45V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998812	NM_001130009.3(GEN1):c.1759A>G (p.Thr587Ala)	GEN1 (T587A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997935	NM_001130009.3(GEN1):c.1538C>T (p.Pro513Leu)	GEN1 (P513L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997675	NM_001130009.3(GEN1):c.1409G>A (p.Arg470His)	GEN1 (R470H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995776	NM_001130009.3(GEN1):c.526-20T>G	GEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992933	NM_001130009.3(GEN1):c.927C>T (p.Leu309=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988424	NM_001130009.3(GEN1):c.1484C>T (p.Pro495Leu)	GEN1 (P495L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984734	NM_001130009.3(GEN1):c.2479C>T (p.His827Tyr)	GEN1 (H827Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983734	NM_001130009.3(GEN1):c.265A>C (p.Arg89=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983183	NM_001130009.3(GEN1):c.2127T>G (p.Ala709=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981308	NM_001130009.3(GEN1):c.2649A>G (p.Lys883=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979753	NM_001130009.3(GEN1):c.2013T>C (p.Asp671=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978004	NM_001130009.3(GEN1):c.969T>G (p.Cys323Trp)	GEN1 (C323W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974641	NM_001130009.3(GEN1):c.2171C>T (p.Pro724Leu)	GEN1 (P724L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973928	NM_001130009.3(GEN1):c.381C>T (p.Pro127=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961370	NM_001130009.3(GEN1):c.1755G>C (p.Leu585Phe)	GEN1 (L585F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960205	NM_001130009.3(GEN1):c.869A>C (p.His290Pro)	GEN1 (H290P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956924	NM_001130009.3(GEN1):c.291T>C (p.Ser97=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954798	NM_001130009.3(GEN1):c.2611A>T (p.Thr871Ser)	GEN1 (T871S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914473	NM_001130009.3(GEN1):c.1737G>T (p.Val579=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911168	NM_001130009.3(GEN1):c.1072-7_1072-2del	GEN1	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2907240	NM_001130009.3(GEN1):c.1276A>G (p.Met426Val)	GEN1 (M426V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906831	NM_001130009.3(GEN1):c.443T>C (p.Val148Ala)	GEN1 (V148A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906672	NM_001130009.3(GEN1):c.618C>T (p.Gly206=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904271	NM_001130009.3(GEN1):c.470A>G (p.Asp157Gly)	GEN1 (D157G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904044	NM_001130009.3(GEN1):c.1264+7A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2902923	NM_001130009.3(GEN1):c.348+19T>G	GEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902711	NM_001130009.3(GEN1):c.954-16A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902373	NM_001130009.3(GEN1):c.953+20C>T	GEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902366	NM_001130009.3(GEN1):c.161+20A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902320	NM_001130009.3(GEN1):c.1265-17T>A	GEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900333	NM_001130009.3(GEN1):c.332A>T (p.Lys111Ile)	GEN1 (K111I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900331	NM_001130009.3(GEN1):c.2447C>G (p.Thr816Arg)	GEN1 (T816R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899966	NM_001130009.3(GEN1):c.2696A>G (p.Gln899Arg)	GEN1 (Q899R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898975	NM_001130009.3(GEN1):c.460A>G (p.Asn154Asp)	GEN1 (N154D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897694	NM_001130009.3(GEN1):c.710+10A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897001	NM_001130009.3(GEN1):c.1776T>C (p.Gly592=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896976	NM_001130009.3(GEN1):c.2510A>G (p.His837Arg)	GEN1 (H837R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896573	NM_001130009.3(GEN1):c.1409-2A>G	GEN1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2894281	NM_001130009.3(GEN1):c.2487A>G (p.Ser829=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894172	NM_001130009.3(GEN1):c.752A>G (p.Gln251Arg)	GEN1 (Q251R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893697	NM_001130009.3(GEN1):c.2348T>C (p.Met783Thr)	GEN1 (M783T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893441	NM_001130009.3(GEN1):c.901C>T (p.His301Tyr)	GEN1 (H301Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893430	NM_001130009.3(GEN1):c.2606A>T (p.Asp869Val)	GEN1 (D869V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893215	NM_001130009.3(GEN1):c.403G>T (p.Ala135Ser)	GEN1 (A135S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892397	NM_001130009.3(GEN1):c.1836A>G (p.Ser612=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891466	NM_001130009.3(GEN1):c.2402C>T (p.Ser801Phe)	GEN1 (S801F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890738	NM_001130009.3(GEN1):c.1685C>G (p.Ser562Cys)	GEN1 (S562C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890334	NM_001130009.3(GEN1):c.667T>C (p.Leu223=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890195	NM_001130009.3(GEN1):c.2027A>G (p.Glu676Gly)	GEN1 (E676G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890170	NM_001130009.3(GEN1):c.237A>G (p.Pro79=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889534	NM_001130009.3(GEN1):c.2107G>A (p.Val703Ile)	GEN1 (V703I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889262	NM_001130009.3(GEN1):c.2571T>C (p.Tyr857=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888676	NM_001130009.3(GEN1):c.1308A>G (p.Leu436=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888398	NM_001130009.3(GEN1):c.1369C>T (p.Gln457Ter)	GEN1 (Q457*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2888175	NM_001130009.3(GEN1):c.2217del (p.Gly740fs)	GEN1 (G740fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2887657	NM_001130009.3(GEN1):c.933_950del (p.Val312_Lys317del)	GEN1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2887067	NM_001130009.3(GEN1):c.1201C>T (p.Arg401Ter)	GEN1 (R401*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2886729	NM_001130009.3(GEN1):c.990G>A (p.Glu330=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2886718	NM_001130009.3(GEN1):c.505A>G (p.Asn169Asp)	GEN1 (N169D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886476	NM_001130009.3(GEN1):c.84A>T (p.Ala28=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886447	NM_001130009.3(GEN1):c.2038_2039delinsTT (p.Thr680Leu)	GEN1 (T680L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2886446	NM_001130009.3(GEN1):c.312A>G (p.Lys104=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886016	NM_001130009.3(GEN1):c.59G>T (p.Arg20Leu)	GEN1 (R20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885937	NM_001130009.3(GEN1):c.1773A>G (p.Glu591=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885919	NM_001130009.3(GEN1):c.444C>T (p.Val148=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885793	NM_001130009.3(GEN1):c.1389T>G (p.Ile463Met)	GEN1 (I463M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885540	NM_001130009.3(GEN1):c.175del (p.Arg59fs)	GEN1 (R59fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2884942	NM_001130009.3(GEN1):c.1074A>T (p.Arg358Ser)	GEN1 (R358S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884893	NM_001130009.3(GEN1):c.1109A>G (p.Tyr370Cys)	GEN1 (Y370C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884696	NM_001130009.3(GEN1):c.718C>T (p.Arg240Trp)	GEN1 (R240W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884690	NM_001130009.3(GEN1):c.1784T>C (p.Phe595Ser)	GEN1 (F595S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884499	NM_001130009.3(GEN1):c.2624dup (p.Ser876fs)	GEN1 (S876fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2884440	NM_001130009.3(GEN1):c.991-2A>G	GEN1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2884211	NM_001130009.3(GEN1):c.1712del (p.Asn571fs)	GEN1 (N571fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2884174	NM_001130009.3(GEN1):c.2564G>A (p.Arg855Lys)	GEN1 (R855K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884155	NM_001130009.3(GEN1):c.445G>A (p.Asp149Asn)	GEN1 (D149N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883891	NM_001130009.3(GEN1):c.1356C>G (p.Ile452Met)	GEN1 (I452M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2883609	NM_001130009.3(GEN1):c.803-4A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883608	NM_001130009.3(GEN1):c.141C>T (p.Ser47=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2878629	NM_001130009.3(GEN1):c.2150C>T (p.Ser717Leu)	GEN1 (S717L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877570	NM_001130009.3(GEN1):c.49A>G (p.Ile17Val)	GEN1 (I17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874928	NM_001130009.3(GEN1):c.1840G>C (p.Val614Leu)	GEN1 (V614L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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