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

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1305169	NM_007289.4(MME):c.47C>A (p.Pro16Gln)	MME (P16Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3218512	NM_007289.4(MME):c.55A>G (p.Lys19Glu)	MME (K19E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1512273	NM_007289.4(MME):c.157G>A (p.Asp53Asn)	MME (D53N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1193349	NM_007289.4(MME):c.239G>A (p.Cys80Tyr)	MME (C80Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1468062	NM_007289.4(MME):c.269G>T (p.Gly90Val)	MME (G90V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1443537	NM_007289.4(MME):c.389T>C (p.Ile130Thr)	MME (I130T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1306124	NM_007289.4(MME):c.445A>G (p.Ile149Val)	MME (I149V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 521759	NM_007289.4(MME):c.516A>T (p.Glu172Asp)	MME (E172D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2279052	NM_007289.4(MME):c.558A>C (p.Lys186Asn)	MME (K186N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1367471	NM_007289.4(MME):c.602T>C (p.Ile201Thr)	MME (I201T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1430669	NM_007289.4(MME):c.668G>T (p.Arg223Leu)	MME (R223L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1511183	NM_007289.4(MME):c.770G>A (p.Arg257His)	MME (R257H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1118432	NM_007289.4(MME):c.881A>G (p.Asn294Ser)	MME (N294S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2621595	NM_007289.4(MME):c.884A>T (p.Asp295Val)	MME (D295V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1471397	NM_007289.4(MME):c.887C>A (p.Pro296Gln)	MME (P296Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2315117	NM_007289.4(MME):c.992T>C (p.Met331Thr)	MME (M331T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218709	NM_007289.4(MME):c.997A>G (p.Thr333Ala)	MME (T333A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1516347	NM_007289.4(MME):c.1123T>C (p.Phe375Leu)	MME (F375L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2616823	NM_007289.4(MME):c.1184G>T (p.Arg395Leu)	MME (R395L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333084	NM_007289.4(MME):c.1249G>A (p.Gly417Arg)	MME (G417R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1933592	NM_007289.4(MME):c.1337A>G (p.Gln446Arg)	MME (Q446R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1945103	NM_007289.4(MME):c.1339A>G (p.Ile447Val)	MME (I447V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1521555	NM_007289.4(MME):c.1343G>A (p.Arg448Gln)	MME (R448Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3295242	NM_007289.4(MME):c.1345G>C (p.Glu449Gln)	MME (E449Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1424657	NM_007289.4(MME):c.1511A>T (p.Glu504Val)	MME (E504V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1486041	NM_007289.4(MME):c.1520A>G (p.Tyr507Cys)	MME (Y507C)	Single nucleotide variant (missense variant)	MME-related autosomal dominant Charcot Marie Tooth disease type 2 +3 more	GUncertain significance
Select item 493378	NM_007289.4(MME):c.1580G>A (p.Arg527Gln)	MME (R527Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2517436	NM_007289.4(MME):c.1624G>A (p.Val542Ile)	MME (V542I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237218	NM_007289.4(MME):c.1684C>T (p.Pro562Ser)	MME (P562S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290171	NM_007289.4(MME):c.1771G>C (p.Asp591His)	MME (D591H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295240	NM_007289.4(MME):c.1799A>G (p.Asp600Gly)	MME (D600G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1417820	NM_007289.4(MME):c.1930A>G (p.Thr644Ala)	MME (T644A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3217983	NM_007289.4(MME):c.2071G>A (p.Ala691Thr)	MME (A691T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309405	NM_007289.4(MME):c.2102A>G (p.Glu701Gly)	MME (E701G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302152	NM_007289.4(MME):c.2104T>A (p.Tyr702Asn)	MME (Y702N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1407883	NM_007289.4(MME):c.2108C>T (p.Ala703Val)	MME (A703V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1525554	NM_007289.4(MME):c.2141C>T (p.Pro714Leu)	MME (P714L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1374922	NM_007289.4(MME):c.2154-5_2160del	MME	Deletion (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 3295241	NM_007289.4(MME):c.2155A>G (p.Ile719Val)	MME (I719V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280181	NM_007289.4(MME):c.2193A>C (p.Glu731Asp)	MME (E731D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214042	NM_007289.4(MME):c.2207G>A (p.Arg736His)	MME (R736H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555454	NM_007289.4(MME):c.2221A>G (p.Met741Val)	MME (M741V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295243	NM_007289.4(MME):c.2235G>T (p.Lys745Asn)	MME (K745N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2065914	NM_007289.4(MME):c.2243G>A (p.Arg748Gln)	MME (R748Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 44