"Ambry Genetics"[submitter] AND "ME3"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2350709	NM_001161586.3(ME3):c.1660G>A (p.Asp554Asn)	ME3 (D554N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2342312	NM_001161586.3(ME3):c.1625G>A (p.Arg542Gln)	LOC126861285, ME3 (R542Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533064	NM_001161586.3(ME3):c.1557A>T (p.Gln519His)	LOC126861285, ME3 (Q519H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336914	NM_001161586.3(ME3):c.1463A>C (p.Asn488Thr)	ME3 (N488T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314511	NM_001161586.3(ME3):c.1352C>T (p.Thr451Met)	ME3 (T451M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599069	NM_001161586.3(ME3):c.1300G>A (p.Glu434Lys)	ME3 (E434K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305992	NM_001161586.3(ME3):c.1265C>T (p.Thr422Met)	ME3 (T422M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527022	NM_001161586.3(ME3):c.1211G>T (p.Arg404Met)	ME3 (R404M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220511	NM_001161586.3(ME3):c.1057G>C (p.Glu353Gln)	ME3 (E353Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619247	NM_001161586.3(ME3):c.1015G>A (p.Glu339Lys)	ME3 (E339K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211250	NM_001161586.3(ME3):c.962G>A (p.Arg321Gln)	ME3 (R321Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513727	NM_001161586.3(ME3):c.866G>A (p.Arg289His)	ME3 (R289H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472969	NM_001161586.3(ME3):c.851A>G (p.Asn284Ser)	ME3 (N284S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523433	NM_001161586.3(ME3):c.659C>T (p.Pro220Leu)	ME3 (P220L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276610	NM_001161586.3(ME3):c.533A>G (p.Asp178Gly)	ME3 (D178G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381794	NM_001161586.3(ME3):c.513G>A (p.Met171Ile)	ME3 (M171I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266248	NM_001161586.3(ME3):c.497G>A (p.Gly166Asp)	ME3 (G166D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258755	NM_001161586.3(ME3):c.351C>A (p.Asn117Lys)	ME3 (N117K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262276	NM_001161586.3(ME3):c.86C>A (p.Ala29Glu)	ME3 (A29E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623085	NM_001161586.3(ME3):c.61G>A (p.Ala21Thr)	ME3 (A21T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 20