"PreventionGenetics, part of Exact Sciences"[submitter] AND "EPG5"[gen - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 534604	NM_020964.3(EPG5):c.7495A>G (p.Met2499Val)	EPG5 (M2499V)	Single nucleotide variant (missense variant)	EPG5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 850666	NM_020964.3(EPG5):c.7474T>A (p.Phe2492Ile)	EPG5 (F2492I)	Single nucleotide variant (missense variant)	EPG5-related disorder +1 more	GUncertain significance
Select item 750691	NM_020964.3(EPG5):c.7446C>T (p.Phe2482=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome +1 more	GLikely benign
Select item 1567227	NM_020964.3(EPG5):c.7428G>A (p.Ser2476=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GLikely benign
Select item 570218	NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter)	EPG5 (R2445*)	Single nucleotide variant (nonsense)	Vici syndrome +1 more	GPathogenic/Likely pathogenic
Select item 755047	NM_020964.3(EPG5):c.7245A>C (p.Ala2415=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GLikely benign
Select item 2633324	NM_020964.3(EPG5):c.7226+2T>C	EPG5	Single nucleotide variant (splice donor variant)	EPG5-related disorder	GLikely pathogenic
Select item 1138664	NM_020964.3(EPG5):c.6951G>A (p.Ala2317=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GLikely benign
Select item 640115	NM_020964.3(EPG5):c.6765C>T (p.Pro2255=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2193995	NM_020964.3(EPG5):c.6622-14_6622-7dup	EPG5	Duplication (intron variant)	Vici syndrome +1 more	GLikely benign
Select item 1651997	NM_020964.3(EPG5):c.6622-15_6622-7dup	EPG5	Duplication (intron variant)	EPG5-related disorder +1 more	GLikely benign
Select item 1155670	NM_020964.3(EPG5):c.6372G>A (p.Met2124Ile)	EPG5 (M2124I)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GLikely benign
Select item 1080565	NM_020964.3(EPG5):c.6372G>T (p.Met2124Ile)	EPG5 (M2124I)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GLikely benign
Select item 392189	NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp)	EPG5 (R2056W)	Single nucleotide variant (missense variant)	EPG5-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 466261	NM_020964.3(EPG5):c.6161C>T (p.Thr2054Met)	EPG5 (T2054M)	Single nucleotide variant (missense variant)	EPG5-related disorder +2 more	GBenign/Likely benign
Select item 2722761	NM_020964.3(EPG5):c.5886T>C (p.His1962=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GLikely benign
Select item 466255	NM_020964.3(EPG5):c.5583C>T (p.Cys1861=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome +2 more	GBenign/Likely benign
Select item 1480810	NM_020964.3(EPG5):c.5548T>C (p.Cys1850Arg)	EPG5 (C1850R)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 2808399	NM_020964.3(EPG5):c.5519-9T>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome +1 more	GLikely benign
Select item 718870	NM_020964.3(EPG5):c.5308G>A (p.Asp1770Asn)	EPG5 (D1770N)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GBenign/Likely benign
Select item 2440061	NM_020964.3(EPG5):c.5304+1G>A	EPG5	Single nucleotide variant (splice donor variant)	Vici syndrome +1 more	GLikely pathogenic
Select item 466254	NM_020964.3(EPG5):c.5229C>T (p.Phe1743=)	EPG5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1652553	NM_020964.3(EPG5):c.4989T>G (p.Pro1663=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GLikely benign
Select item 2576100	NM_020964.3(EPG5):c.4735C>T (p.Gln1579Ter)	EPG5 (Q1579*)	Single nucleotide variant (nonsense)	EPG5-related disorder +1 more	GLikely pathogenic
Select item 784592	NM_020964.3(EPG5):c.4629G>A (p.Leu1543=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GBenign
Select item 1149714	NM_020964.3(EPG5):c.4621C>T (p.Leu1541=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GLikely benign
Select item 1596809	NM_020964.3(EPG5):c.4596C>T (p.Asp1532=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GLikely benign
Select item 788134	NM_020964.3(EPG5):c.4584G>C (p.Leu1528Phe)	EPG5 (L1528F)	Single nucleotide variant (missense variant)	EPG5-related disorder +1 more	GBenign/Likely benign
Select item 534612	NM_020964.3(EPG5):c.4541C>T (p.Pro1514Leu)	EPG5 (P1514L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 225029	NM_020964.3(EPG5):c.4039A>C (p.Asn1347His)	EPG5 (N1347H)	Single nucleotide variant (missense variant)	EPG5-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 466249	NM_020964.3(EPG5):c.3965G>A (p.Arg1322His)	EPG5 (R1322H)	Single nucleotide variant (missense variant)	EPG5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1592177	NM_020964.3(EPG5):c.3846C>T (p.Ile1282=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GLikely benign
Select item 2186324	NM_020964.3(EPG5):c.3693+8A>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome +1 more	GLikely benign
Select item 2633668	NM_020964.3(EPG5):c.3559A>T (p.Lys1187Ter)	EPG5 (K1187*)	Single nucleotide variant (nonsense)	EPG5-related disorder	GLikely pathogenic
Select item 534611	NM_020964.3(EPG5):c.3493A>G (p.Ile1165Val)	EPG5 (I1165V)	Single nucleotide variant (missense variant)	EPG5-related disorder +1 more	GBenign
Select item 39982	NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter)	EPG5 (R1161*)	Single nucleotide variant (nonsense)	Vici syndrome +1 more	GPathogenic
Select item 534614	NM_020964.3(EPG5):c.3436T>C (p.Leu1146=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GBenign
Select item 1637438	NM_020964.3(EPG5):c.3351G>A (p.Gly1117=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GLikely benign
Select item 466246	NM_020964.3(EPG5):c.3279C>T (p.Ser1093=)	EPG5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 534610	NM_020964.3(EPG5):c.3079A>G (p.Met1027Val)	EPG5 (M1027V)	Single nucleotide variant (missense variant)	EPG5-related disorder +2 more	GLikely benign
Select item 534607	NM_020964.3(EPG5):c.2998A>G (p.Met1000Val)	EPG5 (M1000V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 747111	NM_020964.3(EPG5):c.2761T>C (p.Leu921=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GLikely benign
Select item 863566	NM_020964.3(EPG5):c.2395G>T (p.Val799Phe)	EPG5 (V799F)	Single nucleotide variant (missense variant)	EPG5-related disorder +1 more	GUncertain significance
Select item 548536	NM_020964.3(EPG5):c.2373C>T (p.Asp791=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome +1 more	GConflicting classifications of pathogenicity
Select item 798245	NM_020964.3(EPG5):c.2303A>G (p.Asn768Ser)	EPG5 (N768S)	Single nucleotide variant (missense variant)	EPG5-related disorder +1 more	GLikely benign
Select item 466240	NM_020964.3(EPG5):c.2100-7C>T	EPG5	Single nucleotide variant (intron variant)	EPG5-related disorder +2 more	GLikely benign
Select item 1447767	NM_020964.3(EPG5):c.1954G>T (p.Gly652Cys)	EPG5 (G652C)	Single nucleotide variant (missense variant)	EPG5-related disorder +1 more	GUncertain significance
Select item 1591180	NM_020964.3(EPG5):c.1857A>T (p.Ser619=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +2 more	GLikely benign
Select item 1170240	NM_020964.3(EPG5):c.1766A>G (p.Gln589Arg)	EPG5 (Q589R)	Single nucleotide variant (missense variant)	Vici syndrome +2 more	GBenign/Likely benign
Select item 723660	NM_020964.3(EPG5):c.1609G>A (p.Glu537Lys)	EPG5 (E537K)	Single nucleotide variant (missense variant)	EPG5-related disorder +1 more	GLikely benign
Select item 534608	NM_020964.3(EPG5):c.1571+7G>A	EPG5	Single nucleotide variant (intron variant)	EPG5-related disorder +1 more	GBenign/Likely benign
Select item 2875369	NM_020964.3(EPG5):c.1080A>C (p.Ala360=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome +1 more	GLikely benign
Select item 534613	NM_020964.3(EPG5):c.1048C>T (p.Arg350Cys)	EPG5 (R350C)	Single nucleotide variant (missense variant)	EPG5-related disorder +1 more	GLikely benign
Select item 466234	NM_020964.3(EPG5):c.1009-10_1009-9dup	EPG5	Duplication (intron variant)	Vici syndrome +1 more	GBenign/Likely benign
Select item 1646312	NM_020964.3(EPG5):c.858C>T (p.Asp286=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GLikely benign
Select item 2632610	NM_020964.3(EPG5):c.804G>A (p.Trp268Ter)	EPG5 (W268*)	Single nucleotide variant (nonsense)	EPG5-related disorder	GLikely pathogenic
Select item 599429	NM_020964.3(EPG5):c.800C>T (p.Ser267Leu)	EPG5 (S267L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 790740	NM_020964.3(EPG5):c.780A>G (p.Leu260=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GBenign/Likely benign
Select item 658898	NM_020964.3(EPG5):c.683C>A (p.Pro228Gln)	EPG5 (P228Q)	Single nucleotide variant (missense variant)	EPG5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1166439	NM_020964.3(EPG5):c.586G>A (p.Gly196Ser)	EPG5 (G196S)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GBenign/Likely benign
Select item 534622	NM_020964.3(EPG5):c.438G>A (p.Ser146=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GLikely benign
Select item 1554787	NM_020964.3(EPG5):c.291G>A (p.Thr97=)	EPG5	Single nucleotide variant (synonymous variant)	EPG5-related disorder +1 more	GLikely benign
Select item 466241	NM_020964.3(EPG5):c.214G>A (p.Ala72Thr)	EPG5 (A72T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 668200	NM_020964.3(EPG5):c.151C>G (p.Leu51Val)	EPG5 (L51V)	Single nucleotide variant (missense variant)	EPG5-related disorder +2 more	GLikely benign
Select item 741581	NM_020964.3(EPG5):c.150T>G (p.Ser50=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome +2 more	GLikely benign
Select item 466239	NM_020964.3(EPG5):c.18G>A (p.Lys6=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome +1 more	GBenign

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Items: 66