C1855772[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 769442	NM_020964.3(EPG5):c.6622-23dup	EPG5	Duplication (intron variant)	not provided +1 more	GBenign
Select item 402832	NM_020964.3(EPG5):c.6622-7del	EPG5	Deletion (intron variant)	not provided +2 more	GBenign
Select item 717638	NM_020964.3(EPG5):c.4134A>G (p.Glu1378=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GBenign
Select item 225029	NM_020964.3(EPG5):c.4039A>C (p.Asn1347His)	EPG5 (N1347H)	Single nucleotide variant (missense variant)	not provided +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 235421	NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser)	EPG5 (F688S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 466236	NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn)	EPG5, LOC126862737 (S424N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 599429	NM_020964.3(EPG5):c.800C>T (p.Ser267Leu)	EPG5 (S267L)	Single nucleotide variant (missense variant)	EPG5-related condition +2 more	GBenign/Likely benign
Select item 235278	NM_020964.3(EPG5):c.299C>T (p.Thr100Ile)	EPG5 (T100I)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GConflicting classifications of pathogenicity
Select item 466241	NM_020964.3(EPG5):c.214G>A (p.Ala72Thr)	EPG5 (A72T)	Single nucleotide variant (missense variant)	EPG5-related condition +1 more	GConflicting classifications of pathogenicity