MMP25-AS1[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	LOC130058276, LOC130058277 +148 more	Copy number loss	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 3165031	NM_022468.5(MMP25):c.683T>C (p.Phe228Ser)	MMP25, MMP25-AS1 (F228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476055	NM_022468.5(MMP25):c.739C>T (p.Pro247Ser)	MMP25, MMP25-AS1 (P247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218637	NM_022468.5(MMP25):c.790A>G (p.Lys264Glu)	MMP25, MMP25-AS1 (K264E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165129	NM_022468.5(MMP25):c.824T>C (p.Leu275Pro)	MMP25, MMP25-AS1 (L275P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165159	NM_022468.5(MMP25):c.859T>C (p.Tyr287His)	MMP25, MMP25-AS1 (Y287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250625	NM_022468.5(MMP25):c.1034C>T (p.Ser345Phe)	MMP25, MMP25-AS1 (S345F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370532	NM_022468.5(MMP25):c.1064G>A (p.Arg355Gln)	MMP25, MMP25-AS1 (R355Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516446	NM_022468.5(MMP25):c.1080G>C (p.Trp360Cys)	LOC130058296, MMP25 +1 more (W360C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255587	NM_022468.5(MMP25):c.1094C>G (p.Ala365Gly)	LOC130058296, MMP25 +1 more (A365G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409885	NM_022468.5(MMP25):c.1121A>G (p.Tyr374Cys)	MMP25, MMP25-AS1 (Y374C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163654	NM_022468.5(MMP25):c.1126C>G (p.Arg376Gly)	MMP25, MMP25-AS1 (R376G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305628	NM_022468.5(MMP25):c.1129C>T (p.His377Tyr)	MMP25, MMP25-AS1 (H377Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163740	NM_022468.5(MMP25):c.1133G>T (p.Arg378Leu)	MMP25, MMP25-AS1 (R378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295338	NM_022468.5(MMP25):c.1138G>C (p.Gly380Arg)	MMP25, MMP25-AS1 (G380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163775	NM_022468.5(MMP25):c.1138G>A (p.Gly380Ser)	MMP25, MMP25-AS1 (G380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163808	NM_022468.5(MMP25):c.1139G>A (p.Gly380Asp)	MMP25, MMP25-AS1 (G380D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226824	NM_022468.5(MMP25):c.1184A>G (p.Asp395Gly)	LOC130058297, MMP25 +1 more (D395G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163854	NM_022468.5(MMP25):c.1232C>T (p.Pro411Leu)	MMP25, MMP25-AS1 (P411L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537188	NM_022468.5(MMP25):c.1276G>A (p.Gly426Arg)	MMP25, MMP25-AS1 (G426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163906	NM_022468.5(MMP25):c.1291G>T (p.Val431Phe)	MMP25, MMP25-AS1 (V431F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2379963	NM_022468.5(MMP25):c.1323G>C (p.Glu441Asp)	MMP25, MMP25-AS1 (E441D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2380134	NM_022468.5(MMP25):c.1346G>T (p.Gly449Val)	LOC130058298, MMP25 +1 more (G449V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3164006	NM_022468.5(MMP25):c.1360C>G (p.Leu454Val)	LOC130058298, MMP25 +1 more (L454V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2621373	NM_022468.5(MMP25):c.1366C>T (p.Leu456Phe)	LOC130058298, MMP25 +1 more (L456F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2517105	NM_022468.5(MMP25):c.1371G>T (p.Trp457Cys)	LOC130058298, MMP25 +1 more (W457C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2589772	NM_022468.5(MMP25):c.1396G>A (p.Asp466Asn)	MMP25, MMP25-AS1 (D466N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2623537	NM_022468.5(MMP25):c.1397A>C (p.Asp466Ala)	MMP25, MMP25-AS1 (D466A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2486857	NM_022468.5(MMP25):c.1414G>A (p.Ala472Thr)	MMP25, MMP25-AS1 (A472T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2476148	NM_022468.5(MMP25):c.1429T>C (p.Phe477Leu)	MMP25, MMP25-AS1 (F477L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363039	NM_022468.5(MMP25):c.1496A>C (p.Gln499Pro)	MMP25, MMP25-AS1 (Q499P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164287	NM_022468.5(MMP25):c.1535G>A (p.Ser512Asn)	MMP25, MMP25-AS1 (S512N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295969	NM_022468.5(MMP25):c.1543C>T (p.Pro515Ser)	MMP25, MMP25-AS1 (P515S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164325	NM_022468.5(MMP25):c.1550C>T (p.Ala517Val)	MMP25, MMP25-AS1 (A517V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486619	NM_022468.5(MMP25):c.1559C>T (p.Pro520Leu)	MMP25, MMP25-AS1 (P520L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164372	NM_022468.5(MMP25):c.1614G>C (p.Gln538His)	MMP25, MMP25-AS1 (Q538H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3164416	NM_022468.5(MMP25):c.1624C>G (p.Arg542Gly)	MMP25, MMP25-AS1 (R542G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3164444	NM_022468.5(MMP25):c.1642C>T (p.Pro548Ser)	MMP25, MMP25-AS1 (P548S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2304481	NM_022468.5(MMP25):c.1648C>T (p.Leu550Phe)	MMP25, MMP25-AS1 (L550F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3295340	NM_022468.5(MMP25):c.1663C>A (p.Leu555Met)	MMP25, MMP25-AS1 (L555M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2236544	NM_022468.5(MMP25):c.1679C>T (p.Ala560Val)	MMP25, MMP25-AS1 (A560V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 49