Related gene-specific medical variations for Gene (Select 10455) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3086970	NM_206836.3(ECI2):c.977T>C (p.Phe326Ser)	C6orf201, ECI2 (F326S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086967	NM_206836.3(ECI2):c.692T>C (p.Phe231Ser)	C6orf201, ECI2 (F201S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086966	NM_206836.3(ECI2):c.625C>A (p.Pro209Thr)	C6orf201, ECI2 +1 more (P209T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086964	NM_206836.3(ECI2):c.409A>G (p.Thr137Ala)	C6orf201, ECI2 (T107A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086961	NM_206836.3(ECI2):c.1025C>A (p.Pro342Gln)	C6orf201, ECI2 (P342Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616993	NM_206836.3(ECI2):c.785C>T (p.Ala262Val)	C6orf201, ECI2 (A232V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529552	NM_206836.3(ECI2):c.884A>C (p.Lys295Thr)	C6orf201, ECI2 (K295T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527137	NM_206836.3(ECI2):c.332A>G (p.Tyr111Cys)	C6orf201, ECI2 (Y81C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459814	NM_206836.3(ECI2):c.778G>A (p.Val260Met)	C6orf201, ECI2 (V260M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390301	NM_206836.3(ECI2):c.580G>A (p.Asp194Asn)	C6orf201, ECI2 +1 more (D194N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376931	NM_206836.3(ECI2):c.331T>C (p.Tyr111His)	C6orf201, ECI2 (Y81H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354807	NM_206836.3(ECI2):c.1150G>A (p.Val384Met)	C6orf201, ECI2 (V384M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287231	NM_206836.3(ECI2):c.661G>A (p.Ala221Thr)	C6orf201, ECI2 +1 more (A191T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273806	NM_206836.3(ECI2):c.746T>C (p.Ile249Thr)	C6orf201, ECI2 (I219T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260606	NM_206836.3(ECI2):c.617C>T (p.Thr206Ile)	C6orf201, ECI2 +1 more (T206I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254148	NM_206836.3(ECI2):c.448A>G (p.Ile150Val)	C6orf201, ECI2 (I150V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228293	NM_206836.3(ECI2):c.490A>G (p.Ile164Val)	C6orf201, ECI2 (I134V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782468	NM_206836.3(ECI2):c.663C>T (p.Ala221=)	C6orf201, ECI2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 782467	NM_206836.3(ECI2):c.964C>T (p.Pro322Ser)	C6orf201, ECI2 (P322S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign