MMP25[gene] - ClinVar - NCBI

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	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 3164553	NM_022468.5(MMP25):c.19C>T (p.Leu7Phe)	MMP25 (L7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164681	NM_022468.5(MMP25):c.23T>A (p.Leu8Gln)	MMP25 (L8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354097	NM_022468.5(MMP25):c.85G>A (p.Val29Met)	MMP25 (V29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163705	NM_022468.5(MMP25):c.112C>T (p.Arg38Cys)	MMP25 (R38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364001	NM_022468.5(MMP25):c.137A>C (p.His46Pro)	MMP25 (H46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206197	NM_022468.5(MMP25):c.190G>A (p.Val64Ile)	MMP25 (V64I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595992	NM_022468.5(MMP25):c.215C>G (p.Pro72Arg)	MMP25 (P72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398298	NM_022468.5(MMP25):c.223G>T (p.Gly75Cys)	MMP25 (G75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164654	NM_022468.5(MMP25):c.238G>A (p.Gly80Arg)	MMP25 (G80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295336	NM_022468.5(MMP25):c.310C>T (p.Arg104Trp)	MMP25 (R104W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295335	NM_022468.5(MMP25):c.314G>A (p.Arg105His)	MMP25 (R105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164711	NM_022468.5(MMP25):c.319C>T (p.Arg107Trp)	MMP25 (R107W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598677	NM_022468.5(MMP25):c.320G>A (p.Arg107Gln)	MMP25 (R107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164772	NM_022468.5(MMP25):c.332G>A (p.Ser111Asn)	MMP25 (S111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572979	NM_022468.5(MMP25):c.352C>T (p.Arg118Ter)	MMP25 (R118*)	Single nucleotide variant (nonsense)	Mendelian syndromes with cleft lip/palate	GUncertain significance
Select item 2318444	NM_022468.5(MMP25):c.425T>G (p.Met142Arg)	MMP25 (M142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164869	NM_022468.5(MMP25):c.527G>C (p.Arg176Pro)	MMP25 (R176P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164833	NM_022468.5(MMP25):c.527G>A (p.Arg176His)	MMP25 (R176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366980	NM_022468.5(MMP25):c.529G>A (p.Ala177Thr)	MMP25 (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299164	NM_022468.5(MMP25):c.559G>T (p.Gly187Trp)	MMP25 (G187W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295337	NM_022468.5(MMP25):c.578C>A (p.Ala193Asp)	MMP25 (A193D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164958	NM_022468.5(MMP25):c.607A>G (p.Ile203Val)	MMP25 (I203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476838	NM_022468.5(MMP25):c.616G>T (p.Asp206Tyr)	MMP25 (D206Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 3243524	NC_000016.9:g.(?_2550259)_(3154076_?)del	AMDHD2, ATP6V0C +26 more	Deletion	Caused by mutation in the TBC1 domain family, member 24 +2 more	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	CORO7, CORO7-PAM16 +52 more	Copy number loss	not provided	GPathogenic
Select item 3024594	GRCh37/hg19 16p13.3(chr16:2979687-3220680)x3	BICDL2, CLDN6 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 624490	GRCh37/hg19 16p13.3(chr16:3100528-3305985)x3	IL32, MEFV +6 more	Copy number gain	not provided	GLikely benign
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442735	GRCh37/hg19 16p13.3(chr16:2606710-3382546)x3	BICDL2, CLDN6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 442459	GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3	ADCY9, BICDL2 +42 more	Copy number gain	See cases	GUncertain significance
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic

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