MMP15[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	AARS1, ACD +599 more	Copy number gain	See cases	GPathogenic
Select item 2516928	NM_002428.4(MMP15):c.32C>G (p.Pro11Arg)	MMP15 (P11R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245232	NM_002428.4(MMP15):c.41C>G (p.Thr14Arg)	MMP15 (T14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386404	NM_002428.4(MMP15):c.47G>C (p.Ser16Thr)	MMP15 (S16T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279262	NM_002428.4(MMP15):c.140A>C (p.Glu47Ala)	MMP15 (E47A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347661	NM_002428.4(MMP15):c.172C>T (p.Arg58Trp)	MMP15 (R58W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550882	NM_002428.4(MMP15):c.217A>C (p.Met73Leu)	MMP15 (M73L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379282	NM_002428.4(MMP15):c.298G>A (p.Glu100Lys)	MMP15 (E100K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308645	NM_002428.4(MMP15):c.352G>A (p.Gly118Arg)	MMP15 (G118R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392660	NM_002428.4(MMP15):c.377G>A (p.Arg126Gln)	MMP15 (R126Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525405	NM_002428.4(MMP15):c.455C>T (p.Thr152Met)	MMP15 (T152M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2565933	NM_002428.4(MMP15):c.505C>T (p.Arg169Cys)	MMP15 (R169C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 749705	NM_002428.4(MMP15):c.534C>T (p.Val178=)	MMP15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2342214	NM_002428.4(MMP15):c.562C>T (p.Arg188Trp)	MMP15 (R188W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544308	NM_002428.4(MMP15):c.563G>A (p.Arg188Gln)	MMP15 (R188Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553780	NM_002428.4(MMP15):c.857T>C (p.Val286Ala)	MMP15 (V286A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399244	NM_002428.4(MMP15):c.877G>A (p.Glu293Lys)	MMP15 (E293K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646569	NM_002428.4(MMP15):c.910_910+3delinsA	MMP15	Indel (splice donor variant)	not provided	GUncertain significance
Select item 719223	NM_002428.4(MMP15):c.960G>A (p.Thr320=)	MMP15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2272435	NM_002428.4(MMP15):c.989G>A (p.Arg330Gln)	MMP15 (R330Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521408	NM_002428.4(MMP15):c.994C>T (p.Pro332Ser)	MMP15 (P332S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267099	NM_002428.4(MMP15):c.995C>T (p.Pro332Leu)	MMP15 (P332L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389810	NM_002428.4(MMP15):c.997C>T (p.Arg333Trp)	MMP15 (R333W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352940	NM_002428.4(MMP15):c.1036C>T (p.Arg346Trp)	MMP15 (R346W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490876	NM_002428.4(MMP15):c.1037G>A (p.Arg346Gln)	MMP15 (R346Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341403	NM_002428.4(MMP15):c.1052G>T (p.Gly351Val)	MMP15 (G351V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365257	NM_002428.4(MMP15):c.1070G>A (p.Arg357Gln)	MMP15 (R357Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507462	NM_002428.4(MMP15):c.1081C>T (p.Arg361Trp)	MMP15 (R361W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614998	NM_002428.4(MMP15):c.1082G>A (p.Arg361Gln)	MMP15 (R361Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593957	NM_002428.4(MMP15):c.1087G>A (p.Asp363Asn)	MMP15 (D363N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297994	NM_002428.4(MMP15):c.1144G>T (p.Gly382Trp)	MMP15 (G382W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780182	NM_002428.4(MMP15):c.1165-9C>T	MMP15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2299030	NM_002428.4(MMP15):c.1181G>A (p.Arg394Gln)	MMP15 (R394Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245081	NM_002428.4(MMP15):c.1186C>T (p.Arg396Trp)	MMP15 (R396W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525088	NM_002428.4(MMP15):c.1288T>G (p.Phe430Val)	MMP15 (F430V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269921	NM_002428.4(MMP15):c.1331C>T (p.Ala444Val)	MMP15 (A444V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396331	NM_002428.4(MMP15):c.1337T>A (p.Leu446Gln)	MMP15 (L446Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351653	NM_002428.4(MMP15):c.1376T>C (p.Leu459Pro)	MMP15 (L459P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250145	NM_002428.4(MMP15):c.1379G>A (p.Gly460Asp)	MMP15 (G460D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616927	NM_002428.4(MMP15):c.1463G>A (p.Arg488His)	MMP15 (R488H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311235	NM_002428.4(MMP15):c.1594A>G (p.Thr532Ala)	MMP15 (T532A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345555	NM_002428.4(MMP15):c.1628G>A (p.Arg543Gln)	MMP15 (R543Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245625	NM_002428.4(MMP15):c.1661G>C (p.Arg554Pro)	MMP15 (R554P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589923	NM_002428.4(MMP15):c.1690G>A (p.Glu564Lys)	MMP15 (E564K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622355	NM_002428.4(MMP15):c.1802T>C (p.Phe601Ser)	MMP15 (F601S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2619095	NM_002428.4(MMP15):c.1807G>T (p.Ala603Ser)	MMP15 (A603S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466265	NM_002428.4(MMP15):c.1889T>A (p.Leu630Gln)	MMP15 (L630Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561187	NM_002428.4(MMP15):c.1943A>G (p.Gln648Arg)	MMP15 (Q648R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239620	NM_002428.4(MMP15):c.1961C>T (p.Ala654Val)	MMP15 (A654V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220435	NM_002428.4(MMP15):c.1961C>G (p.Ala654Gly)	MMP15 (A654G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	KIFC3, MMP15 +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	CCL17, CCL22 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 980679	GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1	CCL17, ADGRG1 +28 more	Copy number loss	not provided	GUncertain significance
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564334	GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1	ADGRG1, ADGRG3 +35 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ADGRG3 +292 more	Copy number gain	See cases	GPathogenic
Select item 395571	GRCh37/hg19 16q21(chr16:58050710-58079499)x3	MMP15, USB1	Copy number gain	See cases	GLikely benign
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	CARMIL2, CIAPIN1 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 75