"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 772198	NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)	EVC2 (A803V +1 more)	Single nucleotide variant (missense variant)	Curry-Hall syndrome +2 more	GBenign/Likely benign
Select item 349081	NM_147127.5(EVC2):c.1711-11_1711-10dup	EVC2	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1168070	NM_147127.5(EVC2):c.1711-10del	EVC2	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 281704	NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)	EVC2, LOC126806961 (G488S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GLikely benign
Select item 193762	NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)	EVC2, LOC126806961 (T455R +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +4 more	GConflicting classifications of pathogenicity
Select item 712768	NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn)	EVC2, LOC126806961 (S323N +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GBenign/Likely benign
Select item 461811	NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)	EVC2 (F302I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 193503	NM_147127.5(EVC2):c.122C>A (p.Pro41His)	EVC, EVC2 (P41H)	Single nucleotide variant (missense variant +1 more)	Ellis-van Creveld syndrome +3 more	GConflicting classifications of pathogenicity