GEN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129932995, LOC129932996 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	LOC129933180, LOC129933181 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	LOC126806154, LOC126806155 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	HS1BP3, APOB +131 more	Copy number loss	See cases	GPathogenic
Select item 223815	NM_001130009.3(GEN1):c.-223G>T	GEN1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223805	NM_001130009.3(GEN1):c.-16+1450A>T	GEN1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223806	NM_001130009.3(GEN1):c.-16+1552T>G	GEN1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223811	NM_001130009.3(GEN1):c.-15-2285A>T	GEN1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223818	NM_001130009.3(GEN1):c.-15-1461T>C	GEN1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223816	NM_001130009.3(GEN1):c.-15-15T>G	GEN1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1967812	NM_001130009.3(GEN1):c.8T>C (p.Val3Ala)	GEN1 (V3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927617	NM_001130009.3(GEN1):c.12T>A (p.Asn4Lys)	GEN1 (N4K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1156986	NM_001130009.3(GEN1):c.18G>A (p.Leu6=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374964	NM_001130009.3(GEN1):c.22C>A (p.Gln8Lys)	GEN1 (Q8K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1022359	NM_001130009.3(GEN1):c.25A>G (p.Ile9Val)	GEN1 (I9V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167314	NM_001130009.3(GEN1):c.42G>A (p.Lys14=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1487086	NM_001130009.3(GEN1):c.48C>A (p.His16Gln)	GEN1 (H16Q)	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 1671443	NM_001130009.3(GEN1):c.54C>G (p.Pro18=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1058233	NM_001130009.3(GEN1):c.58C>T (p.Arg20Cys)	GEN1 (R20C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 938346	NM_001130009.3(GEN1):c.59G>A (p.Arg20His)	GEN1 (R20H)	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 2375061	NM_001130009.3(GEN1):c.85G>A (p.Val29Ile)	GEN1 (V29I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1059090	NM_001130009.3(GEN1):c.85G>C (p.Val29Leu)	GEN1 (V29L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1160517	NM_001130009.3(GEN1):c.105G>T (p.Val35=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966359	NM_001130009.3(GEN1):c.111G>A (p.Glu37=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1025412	NM_001130009.3(GEN1):c.113C>G (p.Ala38Gly)	GEN1 (A38G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 955915	NM_001130009.3(GEN1):c.118_121del (p.Thr40fs)	GEN1 (T40fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1389890	NM_001130009.3(GEN1):c.118A>G (p.Thr40Ala)	GEN1 (T40A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1003889	NM_001130009.3(GEN1):c.118A>T (p.Thr40Ser)	GEN1 (T40S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1621639	NM_001130009.3(GEN1):c.120A>G (p.Thr40=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1059122	NM_001130009.3(GEN1):c.121G>A (p.Val41Ile)	GEN1 (V41I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379632	NM_001130009.3(GEN1):c.130A>G (p.Met44Val)	GEN1 (M44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2171814	NM_001130009.3(GEN1):c.135G>C (p.Met45Ile)	GEN1 (M45I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883608	NM_001130009.3(GEN1):c.141C>T (p.Ser47=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 935263	NM_001130009.3(GEN1):c.142G>A (p.Val48Ile)	GEN1 (V48I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182370	NM_001130009.3(GEN1):c.145A>G (p.Met49Val)	GEN1 (M49V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554606	NM_001130009.3(GEN1):c.155A>T (p.His52Leu)	GEN1 (H52L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1396231	NM_001130009.3(GEN1):c.161+5A>T	GEN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1583335	NM_001130009.3(GEN1):c.161+18A>G	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 1261547	NM_001130009.3(GEN1):c.161+52T>G	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289734	NM_001130009.3(GEN1):c.162-36T>A	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279615	NM_001130009.3(GEN1):c.162-24G>A	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1572360	NM_001130009.3(GEN1):c.162-11A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885540	NM_001130009.3(GEN1):c.175del (p.Arg59fs)	GEN1 (R59fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1418263	NM_001130009.3(GEN1):c.175C>T (p.Arg59Cys)	GEN1 (R59C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398056	NM_001130009.3(GEN1):c.176G>A (p.Arg59His)	GEN1 (R59H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947644	NM_001130009.3(GEN1):c.178A>G (p.Ile60Val)	GEN1 (I60V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1149345	NM_001130009.3(GEN1):c.180C>A (p.Ile60=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1145419	NM_001130009.3(GEN1):c.181T>A (p.Ser61Thr)	GEN1 (S61T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2182495	NM_001130009.3(GEN1):c.189A>G (p.Leu63=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766634	NM_001130009.3(GEN1):c.192_193insGTTTA (p.Gln65fs)	GEN1 (Q65fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1425235	NM_001130009.3(GEN1):c.196A>G (p.Met66Val)	GEN1 (M66V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 958544	NM_001130009.3(GEN1):c.200A>T (p.Asp67Val)	GEN1 (D67V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026815	NM_001130009.3(GEN1):c.218T>C (p.Val73Ala)	GEN1 (V73A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190568	NM_001130009.3(GEN1):c.228G>A (p.Gly76=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748366	NM_001130009.3(GEN1):c.236C>G (p.Pro79Arg)	GEN1 (P79R)	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 1142737	NM_001130009.3(GEN1):c.249T>A (p.Ala83=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1060584	NM_001130009.3(GEN1):c.262A>G (p.Lys88Glu)	GEN1 (K88E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041469	NM_001130009.3(GEN1):c.263A>G (p.Lys88Arg)	GEN1 (K88R)	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 1169875	NM_001130009.3(GEN1):c.274T>A (p.Ser92Thr)	GEN1 (S92T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 851072	NM_001130009.3(GEN1):c.277C>T (p.Arg93Trp)	GEN1 (R93W)	Single nucleotide variant (missense variant)	not provided +1 more	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 1131378	NM_001130009.3(GEN1):c.294A>G (p.Gly98=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1520780	NM_001130009.3(GEN1):c.299C>T (p.Ser100Leu)	GEN1 (S100L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665743	NM_001130009.3(GEN1):c.300G>A (p.Ser100=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176839	NM_001130009.3(GEN1):c.303G>A (p.Trp101Ter)	GEN1 (W101*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1393914	NM_001130009.3(GEN1):c.303G>T (p.Trp101Cys)	GEN1 (W101C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824490	NM_001130009.3(GEN1):c.305C>A (p.Ser102Tyr)	GEN1 (S102Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432701	NM_001130009.3(GEN1):c.308A>G (p.Gln103Arg)	GEN1 (Q103R)	Single nucleotide variant (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 1009732	NM_001130009.3(GEN1):c.314C>G (p.Thr105Arg)	GEN1 (T105R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056974	NM_001130009.3(GEN1):c.318G>A (p.Gly106=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1004306	NM_001130009.3(GEN1):c.320G>T (p.Arg107Ile)	GEN1 (R107I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666732	NM_001130009.3(GEN1):c.324A>C (p.Ser108=)	GEN1	Single nucleotide variant (synonymous 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 1094506	NM_001130009.3(GEN1):c.333A>G (p.Lys111=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1390491	NM_001130009.3(GEN1):c.343_347del (p.Arg115fs)	GEN1 (R115fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1167770	NM_001130009.3(GEN1):c.348+7A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1618401	NM_001130009.3(GEN1):c.348+13A>T	GEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902923	NM_001130009.3(GEN1):c.348+19T>G	GEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268654	NM_001130009.3(GEN1):c.348+116C>A	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231264	NM_001130009.3(GEN1):c.348+166T>C	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 223817	NM_001130009.3(GEN1):c.349-1122G>C	GEN1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223819	NM_001130009.3(GEN1):c.349-404T>G	GEN1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2414200	NM_001130009.3(GEN1):c.352C>T (p.Leu118Phe)	GEN1 (L118F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461178	NM_001130009.3(GEN1):c.363C>G (p.Leu121=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1113574	NM_001130009.3(GEN1):c.363C>T (p.Leu121=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435317	NM_001130009.3(GEN1):c.364G>A (p.Glu122Lys)	GEN1 (E122K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

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