"Ambry Genetics"[submitter] AND "MMP24"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2534284	NM_006690.4(MMP24):c.8G>A (p.Arg3Lys)	MMP24, MMP24-AS1-EDEM2 (R3K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162957	NM_006690.4(MMP24):c.19G>A (p.Gly7Ser)	MMP24, MMP24-AS1-EDEM2 (G7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534283	NM_006690.4(MMP24):c.38C>A (p.Pro13Gln)	MMP24, MMP24-AS1-EDEM2 (P13Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515004	NM_006690.4(MMP24):c.41C>A (p.Pro14Gln)	MMP24, MMP24-AS1-EDEM2 (P14Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362130	NM_006690.4(MMP24):c.43C>T (p.Pro15Ser)	MMP24, MMP24-AS1-EDEM2 (P15S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2613834	NM_006690.4(MMP24):c.53C>T (p.Pro18Leu)	MMP24, MMP24-AS1-EDEM2 (P18L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513816	NM_006690.4(MMP24):c.65A>T (p.Gln22Leu)	MMP24, MMP24-AS1-EDEM2 (Q22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534285	NM_006690.4(MMP24):c.92T>C (p.Val31Ala)	MMP24, MMP24-AS1-EDEM2 (V31A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162509	NM_006690.4(MMP24):c.104T>G (p.Leu35Arg)	MMP24, MMP24-AS1-EDEM2 (L35R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295334	NM_006690.4(MMP24):c.140C>T (p.Pro47Leu)	MMP24, MMP24-AS1-EDEM2 (P47L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533381	NM_006690.4(MMP24):c.148G>A (p.Ala50Thr)	MMP24, MMP24-AS1-EDEM2 (A50T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279508	NM_006690.4(MMP24):c.148G>C (p.Ala50Pro)	MMP24, MMP24-AS1-EDEM2 (A50P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534280	NM_006690.4(MMP24):c.218A>C (p.Asp73Ala)	MMP24, MMP24-AS1-EDEM2 (D73A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534281	NM_006690.4(MMP24):c.223G>A (p.Ala75Thr)	MMP24, MMP24-AS1-EDEM2 (A75T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517940	NM_006690.4(MMP24):c.224C>T (p.Ala75Val)	MMP24, MMP24-AS1-EDEM2 (A75V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534282	NM_006690.4(MMP24):c.239C>T (p.Ala80Val)	MMP24, MMP24-AS1-EDEM2 (A80V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221892	NM_006690.4(MMP24):c.241G>A (p.Gly81Arg)	MMP24, MMP24-AS1-EDEM2 (G81R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163131	NM_006690.4(MMP24):c.269A>G (p.Tyr90Cys)	MMP24, MMP24-AS1-EDEM2 (Y90C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356416	NM_006690.4(MMP24):c.289C>T (p.Arg97Trp)	MMP24, MMP24-AS1-EDEM2 (R97W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321263	NM_006690.4(MMP24):c.299C>G (p.Ala100Gly)	MMP24, MMP24-AS1-EDEM2 (A100G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295332	NM_006690.4(MMP24):c.317C>T (p.Ala106Val)	MMP24, MMP24-AS1-EDEM2 (A106V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588955	NM_006690.4(MMP24):c.413G>A (p.Arg138Gln)	MMP24, MMP24-AS1-EDEM2 (R138Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610409	NM_006690.4(MMP24):c.802A>G (p.Asn268Asp)	MMP24, MMP24-AS1-EDEM2 (N268D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205301	NM_006690.4(MMP24):c.868C>A (p.Leu290Met)	MMP24, MMP24-AS1-EDEM2 (L290M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616003	NM_006690.4(MMP24):c.886C>T (p.Pro296Ser)	MMP24, MMP24-AS1-EDEM2 (P296S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268513	NM_006690.4(MMP24):c.974T>C (p.Ile325Thr)	MMP24, MMP24-AS1-EDEM2 (I325T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162470	NM_006690.4(MMP24):c.1034G>A (p.Arg345His)	MMP24, MMP24-AS1-EDEM2 (R345H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222577	NM_006690.4(MMP24):c.1076C>T (p.Pro359Leu)	MMP24, MMP24-AS1-EDEM2 (P359L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223212	NM_006690.4(MMP24):c.1088G>A (p.Arg363Gln)	MMP24, MMP24-AS1-EDEM2 (R363Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539637	NM_006690.4(MMP24):c.1283G>C (p.Arg428Pro)	MMP24, MMP24-AS1-EDEM2 (R428P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282676	NM_006690.4(MMP24):c.1339A>G (p.Lys447Glu)	MMP24, MMP24-AS1-EDEM2 (K447E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162647	NM_006690.4(MMP24):c.1418G>A (p.Arg473His)	MMP24, MMP24-AS1-EDEM2 (R473H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249997	NM_006690.4(MMP24):c.1718A>T (p.Glu573Val)	MMP24, MMP24-AS1-EDEM2 (E573V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249998	NM_006690.4(MMP24):c.1721T>A (p.Val574Glu)	MMP24, MMP24-AS1-EDEM2 (V574E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162798	NM_006690.4(MMP24):c.1727G>A (p.Arg576Gln)	MMP24, MMP24-AS1-EDEM2 (R576Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208089	NM_006690.4(MMP24):c.1741C>T (p.Arg581Trp)	MMP24, MMP24-AS1-EDEM2 (R581W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162836	NM_006690.4(MMP24):c.1742G>A (p.Arg581Gln)	MMP24, MMP24-AS1-EDEM2 (R581Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162858	NM_006690.4(MMP24):c.1758C>A (p.Asp586Glu)	MMP24, MMP24-AS1-EDEM2 (D586E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162875	NM_006690.4(MMP24):c.1779C>G (p.Ile593Met)	MMP24, MMP24-AS1-EDEM2 (I593M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331878	NM_006690.4(MMP24):c.1783G>A (p.Asp595Asn)	MMP24, MMP24-AS1-EDEM2 (D595N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162930	NM_006690.4(MMP24):c.1810G>T (p.Ala604Ser)	MMP24, MMP24-AS1-EDEM2 (A604S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295333	NM_006690.4(MMP24):c.1897C>G (p.Pro633Ala)	MMP24, MMP24-AS1-EDEM2 (P633A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 42