"PreventionGenetics, part of Exact Sciences"[submitter] AND "ETV3L"[ge - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055606	NM_001004341.2(ETV3L):c.933A>G (p.Glu311=)	ETV3L	Single nucleotide variant (synonymous variant)	ETV3L-related disorder	GLikely benign
Select item 3048731	NM_001004341.2(ETV3L):c.791C>T (p.Ala264Val)	ETV3L (A264V)	Single nucleotide variant (missense variant)	ETV3L-related disorder	GLikely benign
Select item 734580	NM_001004341.2(ETV3L):c.607C>T (p.Arg203Ter)	ETV3L (R203*)	Single nucleotide variant (nonsense)	ETV3L-related disorder +1 more	GLikely benign
Select item 3039586	NM_001004341.2(ETV3L):c.423C>G (p.His141Gln)	ETV3L (H141Q)	Single nucleotide variant (missense variant)	ETV3L-related disorder	GLikely benign
Select item 3037420	NM_001004341.2(ETV3L):c.95C>T (p.Ser32Leu)	ETV3L (S32L)	Single nucleotide variant (missense variant)	ETV3L-related disorder	GLikely benign

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