"Ambry Genetics"[submitter] AND "MRAP"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2536069	NM_001379228.1(MRAP):c.11G>A (p.Gly4Glu)	MRAP (G4E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3295780	NM_001379228.1(MRAP):c.18C>A (p.Asn6Lys)	MRAP (N6K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3295781	NM_001379228.1(MRAP):c.19G>A (p.Ala7Thr)	MRAP (A7T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3295782	NM_001379228.1(MRAP):c.35A>G (p.Tyr12Cys)	MRAP (Y12C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3203855	NM_001379228.1(MRAP):c.53T>C (p.Leu18Pro)	MRAP (L18P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207440	NM_001379228.1(MRAP):c.76G>A (p.Val26Met)	MRAP (V26M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591117	NM_001379228.1(MRAP):c.115G>A (p.Val39Met)	LOC125418060, MRAP +1 more (V39M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2540865	NM_001379228.1(MRAP):c.128G>T (p.Trp43Leu)	LOC125418060, MRAP +1 more (W43L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475485	NM_001379228.1(MRAP):c.180G>A (p.Met60Ile)	LOC125418060, MRAP +1 more (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393807	NM_001379228.1(MRAP):c.190G>A (p.Ala64Thr)	LOC125418060, MRAP +1 more (A5T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271443	NM_001379228.1(MRAP):c.194C>T (p.Ser65Phe)	LOC125418060, MRAP +1 more (S65F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293471	NM_178817.3(MRAP):c.207delG	MRAP, URB1	Deletion (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3203840	NM_001379228.1(MRAP):c.255C>A (p.Asn85Lys)	MRAP, URB1 (N85K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2300204	NM_001379228.1(MRAP):c.322G>A (p.Ala108Thr)	MRAP, URB1 (A49T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3203845	NM_001379228.1(MRAP):c.327C>A (p.Ser109Arg)	MRAP, URB1 (S109R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2253492	NM_001379228.1(MRAP):c.353G>A (p.Gly118Asp)	MRAP, URB1 (G118D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3203848	NM_001379228.1(MRAP):c.375G>C (p.Gln125His)	MRAP, URB1 (Q125H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2361249	NM_001379228.1(MRAP):c.400G>A (p.Gly134Arg)	MRAP, URB1 (G75R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2268291	NM_001379228.1(MRAP):c.435A>C (p.Glu145Asp)	MRAP, URB1 (E145D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance