ECI2[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2615301	NM_206836.3(ECI2):c.283G>A (p.Ala95Thr)	ECI2 (A95T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214084	NM_206836.3(ECI2):c.203T>C (p.Leu68Pro)	ECI2 (L68P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537087	NM_206836.3(ECI2):c.199G>A (p.Ala67Thr)	ECI2 (A37T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086963	NM_206836.3(ECI2):c.139A>G (p.Met47Val)	ECI2 (M17V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3086969	NM_206836.3(ECI2):c.91A>G (p.Met31Val)	ECI2 (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 789586	NM_206836.3(ECI2):c.51-8A>G	ECI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2465762	NM_206836.3(ECI2):c.47C>G (p.Pro16Arg)	ECI2 (P16R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2275632	NM_206836.3(ECI2):c.46C>A (p.Pro16Thr)	ECI2 (P16T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2509001	NM_206836.3(ECI2):c.35G>A (p.Arg12Gln)	ECI2 (R12Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2220775	NM_206836.3(ECI2):c.14A>G (p.Tyr5Cys)	ECI2 (Y5C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance