C1855772[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217320	NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter)	EPG5 (R2483*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic/Likely pathogenic
Select item 570218	NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter)	EPG5 (R2445*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic/Likely pathogenic
Select item 626236	NM_020964.3(EPG5):c.7240G>A (p.Glu2414Lys)	EPG5 (E2414K)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 626235	NM_020964.3(EPG5):c.6275T>C (p.Leu2092Pro)	EPG5 (L2092P)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 39984	NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter)	EPG5 (R2078*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 626230	NM_020964.3(EPG5):c.6112T>C (p.Cys2038Arg)	EPG5 (C2038R)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 623301	NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)	EPG5 (W2028*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic/Likely pathogenic
Select item 626231	NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter)	EPG5 (S1998*)	Single nucleotide variant (nonsense)	Vici syndrome	GLikely pathogenic
Select item 626233	NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter)	EPG5 (W1989*)	Single nucleotide variant (nonsense)	Vici syndrome	GLikely pathogenic
Select item 626238	NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala)	EPG5 (P1827A)	Single nucleotide variant (missense variant)	Vici syndrome	GLikely pathogenic
Select item 626246	NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter)	EPG5 (Q1595*)	Single nucleotide variant (nonsense)	Vici syndrome	GLikely pathogenic
Select item 626245	NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter)	EPG5 (L1584*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic/Likely pathogenic
Select item 39980	NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter)	EPG5 (Q1530*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 427731	NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu)	EPG5 (G1336E)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 39982	NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter)	EPG5 (R1161*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 39983	NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter)	EPG5 (E859*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 626244	NM_020964.3(EPG5):c.2351A>C (p.Gln784Pro)	EPG5 (Q784P)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 626240	NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro)	EPG5, LOC126862737 (L457P)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 626232	NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter)	EPG5 (R417*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic/Likely pathogenic
Select item 192333	NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)	EPG5 (Q336R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 626237	NM_020964.3(EPG5):c.895C>T (p.Arg299Ter)	EPG5 (R299*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic/Likely pathogenic
Select item 626234	NM_020964.3(EPG5):c.136C>T (p.Gln46Ter)	EPG5 (Q46*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic/Likely pathogenic

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Items: 22