ClinVar for MedGen (Select 340962) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242750	NC_000018.9:g.(?_43464697)_(43468959_?)del	EPG5	Deletion	Vici syndrome	GLikely pathogenic
Select item 3242749	NC_000018.9:g.(?_43523107)_(43524105_?)dup	EPG5	Duplication	Vici syndrome	GLikely pathogenic
Select item 3242748	NC_000018.9:g.(?_43437798)_(43469925_?)dup	EPG5	Duplication	Vici syndrome	GLikely pathogenic
Select item 3242747	NC_000018.9:g.(?_43432432)_(43535324_?)del	EPG5	Deletion	Vici syndrome	GPathogenic
Select item 3242746	NC_000018.9:g.(?_43519546)_(43535324_?)del	EPG5	Deletion	Vici syndrome	GPathogenic
Select item 3242745	NC_000018.9:g.(?_43495456)_(43497804_?)del	EPG5	Deletion	Vici syndrome	GPathogenic
Select item 3242743	NC_000018.9:g.(?_43502287)_(43503373_?)del	EPG5	Deletion	Vici syndrome	GPathogenic
Select item 3242742	NC_000018.9:g.(?_43456181)_(43456327_?)del	EPG5	Deletion	Vici syndrome	GPathogenic
Select item 3242741	NC_000018.9:g.(?_43467696)_(43467892_?)del	EPG5	Deletion	Vici syndrome	GPathogenic
Select item 3235036	NM_020964.3(EPG5):c.6634A>G (p.Lys2212Glu)	EPG5 (K2211E +1 more)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 3064879	NM_020964.3(EPG5):c.5490C>A (p.Tyr1830Ter)	EPG5 (Y1830*)	Single nucleotide variant (nonsense)	Vici syndrome	GUncertain significance
Select item 3023673	NM_020964.3(EPG5):c.4286A>G (p.His1429Arg)	EPG5 (H1429R)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 3023104	NM_020964.3(EPG5):c.63+14C>T	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3022778	NM_020964.3(EPG5):c.2099+12A>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3021881	NM_020964.3(EPG5):c.5570C>T (p.Ala1857Val)	EPG5 (A1857V)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 3020986	NM_020964.3(EPG5):c.3150G>A (p.Gln1050=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3020663	NM_020964.3(EPG5):c.3216G>A (p.Gln1072=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3020151	NM_020964.3(EPG5):c.3152C>T (p.Ser1051Leu)	EPG5 (S1051L)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 3019528	NM_020964.3(EPG5):c.4659T>C (p.Leu1553=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3019329	NM_020964.3(EPG5):c.909A>G (p.Gln303=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3019102	NM_020964.3(EPG5):c.2865A>C (p.Arg955=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3018421	NM_020964.3(EPG5):c.6462T>C (p.His2154=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3018375	NM_020964.3(EPG5):c.873T>C (p.Tyr291=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3018002	NM_020964.3(EPG5):c.3098+14C>T	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3017761	NM_020964.3(EPG5):c.7443-8T>C	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3017734	NM_020964.3(EPG5):c.7689T>G (p.Leu2563=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 3017112	NM_020964.3(EPG5):c.2316G>A (p.Glu772=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3016842	NM_020964.3(EPG5):c.3384+16G>A	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3016237	NM_020964.3(EPG5):c.5370G>A (p.Glu1790=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3016234	NM_020964.3(EPG5):c.150T>C (p.Ser50=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3015812	NM_020964.3(EPG5):c.3651C>T (p.Asn1217=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3015724	NM_020964.3(EPG5):c.3597C>T (p.Tyr1199=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3015344	NM_020964.3(EPG5):c.5490C>T (p.Tyr1830=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3014934	NM_020964.3(EPG5):c.4161C>G (p.Thr1387=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3014814	NM_020964.3(EPG5):c.64-20A>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3014520	NM_020964.3(EPG5):c.2091G>A (p.Lys697=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3014503	NM_020964.3(EPG5):c.1389+18G>T	EPG5, LOC126862737	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3014390	NM_020964.3(EPG5):c.1390-6G>A	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3014301	NM_020964.3(EPG5):c.5811G>A (p.Arg1937=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3014091	NM_020964.3(EPG5):c.6378A>G (p.Leu2126=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3012870	NM_020964.3(EPG5):c.4329+13C>T	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3012395	NM_020964.3(EPG5):c.5518+7G>A	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3011435	NM_020964.3(EPG5):c.6878G>A (p.Arg2293Gln)	EPG5 (R2292Q +1 more)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 3011199	NM_020964.3(EPG5):c.2553+9A>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3010895	NM_020964.3(EPG5):c.5109+15A>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3010357	NM_020964.3(EPG5):c.135G>A (p.Glu45=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3008857	NM_020964.3(EPG5):c.3111C>T (p.Phe1037=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3008777	NM_020964.3(EPG5):c.1341T>C (p.Asn447=)	EPG5, LOC126862737	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3008728	NM_020964.3(EPG5):c.7702C>T (p.Leu2568=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 3008727	NM_020964.3(EPG5):c.7704G>C (p.Leu2568=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 3007233	NM_020964.3(EPG5):c.4646+7C>A	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3006655	NM_020964.3(EPG5):c.5519-12C>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3006473	NM_020964.3(EPG5):c.5778T>C (p.Asp1926=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3004897	NM_020964.3(EPG5):c.940C>T (p.Leu314=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3003583	NM_020964.3(EPG5):c.4646+10T>C	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3002929	NM_020964.3(EPG5):c.7560T>A (p.Ala2520=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 3002333	NM_020964.3(EPG5):c.3816+11C>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3002216	NM_020964.3(EPG5):c.2099+11C>T	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 3001042	NM_020964.3(EPG5):c.6249C>T (p.Ser2083=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3000107	NM_020964.3(EPG5):c.6C>G (p.Ala2=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3000104	NM_020964.3(EPG5):c.4953-13C>T	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2999905	NM_020964.3(EPG5):c.5890G>T (p.Val1964Leu)	EPG5 (V1964L)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2999202	NM_020964.3(EPG5):c.1152T>C (p.Tyr384=)	EPG5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2998808	NM_020964.3(EPG5):c.1351C>T (p.Gln451Ter)	EPG5, LOC126862737 (Q451*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2997451	NM_020964.3(EPG5):c.3983+17T>C	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2997182	NM_020964.3(EPG5):c.2147_2150del (p.Ser716fs)	EPG5 (S716fs)	Microsatellite (frameshift variant)	Vici syndrome	GPathogenic
Select item 2997170	NM_020964.3(EPG5):c.6882C>G (p.Thr2294=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2995716	NM_020964.3(EPG5):c.5869+18C>A	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2995349	NM_020964.3(EPG5):c.5942+10T>A	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2994719	NM_020964.3(EPG5):c.531T>C (p.Asn177=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2994711	NM_020964.3(EPG5):c.2019G>A (p.Gln673=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2994640	NM_020964.3(EPG5):c.4659T>A (p.Leu1553=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2992445	NM_020964.3(EPG5):c.4647-11A>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2991970	NM_020964.3(EPG5):c.5658A>G (p.Ser1886=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2991873	NM_020964.3(EPG5):c.3918C>G (p.Pro1306=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2991652	NM_020964.3(EPG5):c.4952C>T (p.Thr1651Met)	EPG5 (T1651M)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2990196	NM_020964.3(EPG5):c.2205G>A (p.Leu735=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2990004	NM_020964.3(EPG5):c.3325C>T (p.Gln1109Ter)	EPG5 (Q1109*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2989348	NM_020964.3(EPG5):c.4284G>A (p.Lys1428=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2988318	NM_020964.3(EPG5):c.4330-17C>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2987952	NM_020964.3(EPG5):c.2820C>G (p.Leu940=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2985866	NM_020964.3(EPG5):c.5433T>C (p.Phe1811=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2984470	NM_020964.3(EPG5):c.3583-18C>T	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2983268	NM_020964.3(EPG5):c.5869+10T>C	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2982826	NM_020964.3(EPG5):c.5070A>C (p.Thr1690=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2982795	NM_020964.3(EPG5):c.3817-5del	EPG5	Deletion (intron variant)	Vici syndrome	GBenign
Select item 2982471	NM_020964.3(EPG5):c.1014C>T (p.Ile338=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2982389	NM_020964.3(EPG5):c.2953C>T (p.Gln985Ter)	EPG5 (Q985*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2982208	NM_020964.3(EPG5):c.7707T>C (p.Tyr2569=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 2981985	NM_020964.3(EPG5):c.5208C>T (p.Pro1736=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2980503	NM_020964.3(EPG5):c.4066T>C (p.Leu1356=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2980010	NM_020964.3(EPG5):c.5413G>C (p.Glu1805Gln)	EPG5 (E1805Q)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2979298	NM_020964.3(EPG5):c.2808T>C (p.Tyr936=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2979217	NM_020964.3(EPG5):c.1443C>T (p.Asn481=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2978903	NM_020964.3(EPG5):c.2099+15T>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2978204	NM_020964.3(EPG5):c.486T>C (p.Tyr162=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2977982	NM_020964.3(EPG5):c.123A>G (p.Lys41=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2977095	NM_020964.3(EPG5):c.4917T>C (p.Ile1639=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2976848	NM_020964.3(EPG5):c.4233A>G (p.Leu1411=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2976676	NM_020964.3(EPG5):c.6783C>T (p.Thr2261=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign

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