MMP14[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 1260806	NC_000014.9:g.22836292A>G	MMP14	Single nucleotide variant	not provided	GBenign
Select item 1223341	NC_000014.9:g.22836446dup	MMP14	Duplication	not provided	GBenign
Select item 1220628	NC_000014.9:g.22836440T>C	MMP14	Single nucleotide variant	not provided	GBenign
Select item 1297228	NC_000014.9:g.22836454G>T	MMP14	Single nucleotide variant	not provided	GBenign
Select item 1273921	NM_004995.4(MMP14):c.-44G>C	MMP14	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 776819	NM_004995.4(MMP14):c.10G>A (p.Ala4Thr)	MMP14 (A4T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2017895	NM_004995.4(MMP14):c.17dup (p.Pro7fs)	MMP14 (P7fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1279198	NM_004995.4(MMP14):c.22C>T (p.Pro8Ser)	MMP14 (P8S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2246466	NM_004995.4(MMP14):c.25C>A (p.Arg9Ser)	MMP14 (R9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2111040	NM_004995.4(MMP14):c.26G>A (p.Arg9His)	MMP14 (R9H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010432	NM_004995.4(MMP14):c.36G>C (p.Leu12=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681405	NM_004995.4(MMP14):c.40C>T (p.Pro14Ser)	MMP14 (P14S)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 65463	NM_004995.4(MMP14):c.50C>G (p.Thr17Arg)	MMP14 (T17R)	Single nucleotide variant (missense variant)	Winchester syndrome	GPathogenic
Select item 1472426	NM_004995.4(MMP14):c.61G>A (p.Ala21Thr)	MMP14 (A21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838976	NM_004995.4(MMP14):c.62C>T (p.Ala21Val)	MMP14 (A21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2528000	NM_004995.4(MMP14):c.73C>T (p.Leu25Phe)	MMP14 (L25F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1928631	NM_004995.4(MMP14):c.76G>A (p.Gly26Ser)	MMP14 (G26S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2476765	NM_004995.4(MMP14):c.77G>T (p.Gly26Val)	MMP14 (G26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2873992	NM_004995.4(MMP14):c.81G>C (p.Ser27=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3295279	NM_004995.4(MMP14):c.85C>G (p.Gln29Glu)	MMP14 (Q29E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1470764	NM_004995.4(MMP14):c.91A>T (p.Ser31Cys)	MMP14 (S31C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528318	NM_004995.4(MMP14):c.93C>T (p.Ser31=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871637	NM_004995.4(MMP14):c.108+16G>C	MMP14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1586983	NM_004995.4(MMP14):c.108+20C>A	MMP14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182053	NM_004995.4(MMP14):c.108+203_108+204del	MMP14	Deletion (intron variant)	not provided	GBenign
Select item 1235474	NM_004995.4(MMP14):c.108+205C>T	MMP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267771	NM_004995.4(MMP14):c.108+208C>A	MMP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286498	NM_004995.4(MMP14):c.109-215C>T	MMP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1924722	NM_004995.4(MMP14):c.109-18A>G	MMP14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535901	NM_004995.4(MMP14):c.109-14C>T	MMP14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 729027	NM_004995.4(MMP14):c.109G>C (p.Ala37Pro)	MMP14 (A37P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2806556	NM_004995.4(MMP14):c.123A>G (p.Gln41=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967955	NM_004995.4(MMP14):c.136C>T (p.Pro46Ser)	MMP14 (P46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976127	NM_004995.4(MMP14):c.136C>A (p.Pro46Thr)	MMP14 (P46T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098033	NM_004995.4(MMP14):c.141C>T (p.Pro47=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964995	NM_004995.4(MMP14):c.142G>A (p.Gly48Arg)	MMP14 (G48R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815123	NM_004995.4(MMP14):c.142G>C (p.Gly48Arg)	MMP14 (G48R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467990	NM_004995.4(MMP14):c.145G>A (p.Asp49Asn)	MMP14 (D49N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2332647	NM_004995.4(MMP14):c.152G>A (p.Arg51His)	MMP14 (R51H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2122584	NM_004995.4(MMP14):c.160A>G (p.Thr54Ala)	MMP14 (T54A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720119	NM_004995.4(MMP14):c.160A>C (p.Thr54Pro)	MMP14 (T54P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980745	NM_004995.4(MMP14):c.162A>G (p.Thr54=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954036	NM_004995.4(MMP14):c.165G>A (p.Gln55=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559448	NM_004995.4(MMP14):c.171A>G (p.Ser57=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761534	NM_004995.4(MMP14):c.178T>C (p.Ser60Pro)	MMP14 (S60P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172369	NM_004995.4(MMP14):c.183C>G (p.Leu61=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781736	NM_004995.4(MMP14):c.185C>T (p.Ser62Leu)	MMP14 (S62L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477292	NM_004995.4(MMP14):c.189_191del (p.Ala64del)	MMP14 (A64del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2071863	NM_004995.4(MMP14):c.189G>A (p.Ala63=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286109	NM_004995.4(MMP14):c.191C>T (p.Ala64Val)	MMP14 (A64V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1547819	NM_004995.4(MMP14):c.195C>T (p.Ile65=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3295282	NM_004995.4(MMP14):c.196G>A (p.Ala66Thr)	MMP14 (A66T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1979296	NM_004995.4(MMP14):c.207G>A (p.Gln69=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2478540	NM_004995.4(MMP14):c.230C>T (p.Thr77Ile)	MMP14 (T77I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153443	NM_004995.4(MMP14):c.244G>A (p.Ala82Thr)	MMP14 (A82T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1604940	NM_004995.4(MMP14):c.257+14C>T	MMP14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821105	NM_004995.4(MMP14):c.257+19C>T	MMP14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237366	NM_004995.4(MMP14):c.258-78del	MMP14	Deletion (intron variant)	not provided	GBenign
Select item 1289974	NM_004995.4(MMP14):c.258-78T>C	MMP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2964201	NM_004995.4(MMP14):c.258-19G>A	MMP14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842234	NM_004995.4(MMP14):c.258-7A>T	MMP14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2455654	NM_004995.4(MMP14):c.265A>G (p.Arg89Gly)	MMP14 (R89G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1378978	NM_004995.4(MMP14):c.269G>A (p.Arg90His)	MMP14 (R90H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449244	NM_004995.4(MMP14):c.274C>T (p.Arg92Ter)	MMP14 (R92*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1570286	NM_004995.4(MMP14):c.294G>A (p.Lys98=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613924	NM_004995.4(MMP14):c.299G>C (p.Gly100Ala)	MMP14 (G100A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1558857	NM_004995.4(MMP14):c.303T>A (p.Ala101=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308030	NM_004995.4(MMP14):c.314C>T (p.Ala105Val)	MMP14 (A105V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1928383	NM_004995.4(MMP14):c.318T>C (p.Asn106=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064215	NM_004995.4(MMP14):c.332G>A (p.Arg111His)	MMP14	Single nucleotide variant (missense variant)	Winchester syndrome	GPathogenic
Select item 2310982	NM_004995.4(MMP14):c.337G>A (p.Ala113Thr)	MMP14 (A113T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2090398	NM_004995.4(MMP14):c.362A>G (p.His121Arg)	MMP14 (H121R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018818	NM_004995.4(MMP14):c.380+11dup	MMP14	Duplication (intron variant)	not provided	GLikely benign
Select item 2967741	NM_004995.4(MMP14):c.380+11C>T	MMP14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274746	NM_004995.4(MMP14):c.381-139G>A	MMP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1899090	NM_004995.4(MMP14):c.381-16C>T	MMP14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608186	NM_004995.4(MMP14):c.381-5C>T	MMP14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2141177	NM_004995.4(MMP14):c.408C>T (p.Gly136=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907151	NM_004995.4(MMP14):c.434G>A (p.Arg145His)	MMP14 (R145H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 803006	NM_004995.4(MMP14):c.440C>T (p.Ala147Val)	MMP14 (A147V)	Single nucleotide variant (missense variant)	Winchester syndrome	GUncertain significance
Select item 2984222	NM_004995.4(MMP14):c.441G>A (p.Ala147=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154877	NM_004995.4(MMP14):c.446G>A (p.Arg149His)	MMP14 (R149H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938863	NM_004995.4(MMP14):c.448G>A (p.Val150Met)	MMP14 (V150M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887825	NM_004995.4(MMP14):c.472C>T (p.Arg158Cys)	MMP14 (R158C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997985	NM_004995.4(MMP14):c.473G>A (p.Arg158His)	MMP14 (R158H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512738	NM_004995.4(MMP14):c.479G>A (p.Arg160His)	MMP14 (R160H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976631	NM_004995.4(MMP14):c.480C>T (p.Arg160=)	MMP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3295283	NM_004995.4(MMP14):c.494C>T (p.Ala165Val)	MMP14 (A165V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1423074	NM_004995.4(MMP14):c.494C>A (p.Ala165Asp)	MMP14 (A165D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2328259	NM_004995.4(MMP14):c.502C>T (p.Arg168Cys)	MMP14 (R168C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1348078	NM_004995.4(MMP14):c.505G>A (p.Glu169Lys)	MMP14 (E169K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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