ME2[gene] and "single gene"[properties] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1676760	NC_000018.10:g.50861586G>A	ME2	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676761	NC_000018.10:g.50866180C>T	ME2	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676762	NC_000018.10:g.50872497=	ME2	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1676763	NM_002396.5(ME2):c.-13+1648C>T	ME2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3124757	NM_002396.5(ME2):c.54T>G (p.His18Gln)	ME2 (H18Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314833	NM_002396.5(ME2):c.86T>C (p.Met29Thr)	ME2 (M29T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1676764	NM_002396.5(ME2):c.108+687=	ME2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2404989	NM_002396.5(ME2):c.288T>G (p.Phe96Leu)	ME2 (F96L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293904	NM_002396.5(ME2):c.335A>G (p.Tyr112Cys)	ME2 (Y112C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293905	NM_002396.5(ME2):c.407C>T (p.Ser136Leu)	ME2 (S136L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 447713	NM_002396.5(ME2):c.409A>G (p.Ile137Val)	ME2 (I137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124756	NM_002396.5(ME2):c.444T>A (p.Asp148Glu)	ME2 (D148E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293901	NM_002396.5(ME2):c.475G>A (p.Val159Ile)	ME2 (V159I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124758	NM_002396.5(ME2):c.550C>T (p.Leu184Phe)	ME2 (L184F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124759	NM_002396.5(ME2):c.581G>A (p.Arg194Gln)	ME2 (R194Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 757153	NM_002396.5(ME2):c.597G>A (p.Leu199=)	ME2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2350627	NM_002396.5(ME2):c.608T>C (p.Ile203Thr)	ME2 (I203T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 447714	NM_002396.5(ME2):c.629T>C (p.Ile210Thr)	ME2 (I210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124760	NM_002396.5(ME2):c.667C>G (p.Gln223Glu)	ME2 (Q223E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293903	NM_002396.5(ME2):c.683C>T (p.Thr228Ile)	ME2 (T228I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124761	NM_002396.5(ME2):c.754A>G (p.Ile252Val)	ME2 (I252V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293902	NM_002396.5(ME2):c.809G>A (p.Arg270Gln)	ME2 (R270Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033318	NM_002396.5(ME2):c.844+8A>C	ME2	Single nucleotide variant (intron variant)	ME2-related disorder	GBenign
Select item 1676765	NM_002396.5(ME2):c.844+18C>A	ME2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3124762	NM_002396.5(ME2):c.910G>A (p.Glu304Lys)	ME2 (E304K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293907	NM_002396.5(ME2):c.935C>T (p.Ala312Val)	ME2 (A312V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323687	NM_002396.5(ME2):c.979A>G (p.Met327Val)	ME2 (M327V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592737	NM_002396.5(ME2):c.982G>T (p.Val328Leu)	ME2 (V328L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124753	NM_002396.5(ME2):c.1061G>A (p.Arg354Gln)	ME2 (R354Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613315	NM_002396.5(ME2):c.1075G>A (p.Asp359Asn)	ME2 (D359N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297396	NM_002396.5(ME2):c.1115G>A (p.Ser372Asn)	ME2 (S372N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2481204	NM_002396.5(ME2):c.1165A>T (p.Ile389Leu)	ME2 (I389L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510580	NM_002396.5(ME2):c.1190G>A (p.Arg397His)	ME2 (R397H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043069	NM_002396.5(ME2):c.1230C>T (p.Ile410=)	ME2	Single nucleotide variant (synonymous variant +1 more)	ME2-related disorder	GLikely benign
Select item 2383734	NM_002396.5(ME2):c.1232A>G (p.Asn411Ser)	ME2 (N411S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348088	NM_002396.5(ME2):c.1286C>T (p.Thr429Met)	ME2 (T429M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124754	NM_002396.5(ME2):c.1291G>A (p.Glu431Lys)	ME2 (E431K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1676766	NM_002396.5(ME2):c.1315-1725T>C	ME2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3060471	NM_002396.5(ME2):c.1349G>A (p.Gly450Glu)	ME2 (G450E)	Single nucleotide variant (missense variant +1 more)	ME2-related disorder	GBenign
Select item 1676767	NM_002396.5(ME2):c.1349= (p.Gly450=)	ME2	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2536754	NM_002396.5(ME2):c.1367A>G (p.Asp456Gly)	ME2 (D456G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 94060	NM_002396.5(ME2):c.1404T>A (p.Val468=)	ME2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2287777	NM_002396.5(ME2):c.1451G>A (p.Arg484Gln)	ME2 (R484Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228619	NM_002396.5(ME2):c.1466G>A (p.Ser489Asn)	ME2 (S489N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124755	NM_002396.5(ME2):c.1508C>G (p.Thr503Arg)	ME2 (T503R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540978	NM_002396.5(ME2):c.1525C>G (p.Gln509Glu)	ME2 (Q509E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547671	NM_002396.5(ME2):c.1559A>G (p.Gln520Arg)	ME2 (Q520R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 447712	NM_002396.5(ME2):c.1636C>A (p.Pro546Thr)	ME2 (P546T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2296885	NM_002396.5(ME2):c.1684T>C (p.Tyr562His)	ME2 (Y562H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance

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Items: 49