ClinVar for Gene (Select 4326) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295309	NM_016155.7(MMP17):c.788A>G (p.His263Arg)	MMP17 (H263R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3295308	NM_016155.7(MMP17):c.329G>C (p.Cys110Ser)	MMP17 (C26S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295306	NM_016155.7(MMP17):c.781G>T (p.Ala261Ser)	MMP17 (A177S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295305	NM_016155.7(MMP17):c.1300G>A (p.Ala434Thr)	MMP17 (A434T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295304	NM_016155.7(MMP17):c.911C>A (p.Ala304Glu)	MMP17 (A304E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295303	NM_016155.7(MMP17):c.908C>A (p.Thr303Lys)	MMP17 (T219K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295302	NM_016155.7(MMP17):c.907A>G (p.Thr303Ala)	MMP17 (T219A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295301	NM_016155.7(MMP17):c.128C>G (p.Ala43Gly)	MMP17 (A43G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295300	NM_016155.7(MMP17):c.802C>T (p.Pro268Ser)	MMP17 (P184S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295299	NM_016155.7(MMP17):c.572A>G (p.Lys191Arg)	MMP17 (K107R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3295298	NM_016155.7(MMP17):c.1675G>A (p.Glu559Lys)	MMP17 (E475K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295297	NM_016155.7(MMP17):c.104G>A (p.Gly35Glu)	MMP17 (G35E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295295	NM_016155.7(MMP17):c.800G>A (p.Arg267Gln)	MMP17 (R183Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3295294	NM_016155.7(MMP17):c.134G>C (p.Arg45Pro)	MMP17 (R45P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157629	NM_016155.7(MMP17):c.835C>T (p.Arg279Cys)	MMP17 (R279C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157605	NM_016155.7(MMP17):c.77T>C (p.Leu26Pro)	MMP17 (L26P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157338	NM_016155.7(MMP17):c.460G>A (p.Asp154Asn)	MMP17 (D154N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157238	NM_016155.7(MMP17):c.397T>C (p.Trp133Arg)	MMP17 (W49R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157219	NM_016155.7(MMP17):c.326G>A (p.Arg109His)	MMP17 (R109H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157193	NM_016155.7(MMP17):c.283G>A (p.Gly95Ser)	MMP17 (G11S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156979	NM_016155.7(MMP17):c.19C>T (p.Arg7Trp)	MMP17 (R7W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156461	NM_016155.7(MMP17):c.1461C>A (p.Asp487Glu)	MMP17 (D487E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156425	NM_016155.7(MMP17):c.1451G>A (p.Arg484His)	MMP17 (R400H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156376	NM_016155.7(MMP17):c.1357C>A (p.Arg453Ser)	MMP17 (R453S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156306	NM_016155.7(MMP17):c.1288G>A (p.Gly430Ser)	MMP17 (G430S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156267	NM_016155.7(MMP17):c.1237G>A (p.Val413Ile)	MMP17 (V329I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156239	NM_016155.7(MMP17):c.1228G>A (p.Asp410Asn)	MMP17 (D410N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156207	NM_016155.7(MMP17):c.112G>C (p.Ala38Pro)	MMP17 (A38P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156152	NM_016155.7(MMP17):c.1076G>A (p.Arg359Gln)	MMP17 (R275Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156130	NM_016155.7(MMP17):c.1075C>T (p.Arg359Trp)	MMP17 (R359W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2643609	NM_016155.7(MMP17):c.1602G>A (p.Ala534=)	MMP17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643608	NM_016155.7(MMP17):c.780C>T (p.Ala260=)	MMP17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643607	NM_016155.7(MMP17):c.585C>T (p.Asn195=)	MMP17	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621596	NM_016155.7(MMP17):c.911C>T (p.Ala304Val)	MMP17 (A304V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603474	NM_016155.7(MMP17):c.619G>A (p.Val207Met)	MMP17 (V123M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600334	NM_016155.7(MMP17):c.1613C>T (p.Ala538Val)	MMP17 (A538V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589074	NM_016155.7(MMP17):c.221C>A (p.Thr74Lys)	MMP17 (T74K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2560221	NM_016155.7(MMP17):c.1717G>A (p.Ala573Thr)	MMP17 (A489T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559548	NM_016155.7(MMP17):c.1796A>G (p.Gln599Arg)	MMP17 (Q599R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2557029	NM_016155.7(MMP17):c.662A>C (p.Asp221Ala)	MMP17 (D137A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549238	NM_016155.7(MMP17):c.1553G>T (p.Arg518Leu)	MMP17 (R518L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534112	NM_016155.7(MMP17):c.757G>A (p.Ala253Thr)	MMP17 (A169T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515478	NM_016155.7(MMP17):c.174G>T (p.Arg58Ser)	MMP17 (R58S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2475011	NM_016155.7(MMP17):c.1805C>T (p.Thr602Met)	MMP17 (T518M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465003	NM_016155.7(MMP17):c.1103C>T (p.Pro368Leu)	MMP17 (P284L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403106	NM_016155.7(MMP17):c.1073C>T (p.Thr358Met)	MMP17 (T358M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400184	NM_016155.7(MMP17):c.26C>A (p.Pro9His)	MMP17 (P9H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399840	NM_016155.7(MMP17):c.685G>C (p.Ala229Pro)	MMP17 (A229P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399722	NM_016155.7(MMP17):c.276G>C (p.Glu92Asp)	MMP17 (E92D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397197	NM_016155.7(MMP17):c.413T>C (p.Leu138Pro)	MMP17 (L54P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395023	NM_016155.7(MMP17):c.1636C>T (p.Pro546Ser)	MMP17 (P546S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389796	NM_016155.7(MMP17):c.955C>T (p.Arg319Trp)	MMP17 (R235W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385722	NM_016155.7(MMP17):c.617C>T (p.Thr206Ile)	MMP17 (T122I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381226	NM_016155.7(MMP17):c.674A>T (p.Asp225Val)	MMP17 (D141V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363758	NM_016155.7(MMP17):c.562G>A (p.Asp188Asn)	MMP17 (D188N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361826	NM_016155.7(MMP17):c.938C>T (p.Pro313Leu)	MMP17 (P229L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357150	NM_016155.7(MMP17):c.427C>T (p.Arg143Trp)	MMP17 (R59W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347198	NM_016155.7(MMP17):c.1738G>A (p.Ala580Thr)	MMP17 (A580T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337747	NM_016155.7(MMP17):c.464C>T (p.Thr155Met)	MMP17 (T71M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327856	NM_016155.7(MMP17):c.412C>G (p.Leu138Val)	MMP17 (L138V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327539	NM_016155.7(MMP17):c.509T>G (p.Ile170Ser)	MMP17 (I170S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326613	NM_016155.7(MMP17):c.17C>G (p.Ala6Gly)	MMP17 (A6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311764	NM_016155.7(MMP17):c.1450C>T (p.Arg484Cys)	MMP17 (R484C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292891	NM_016155.7(MMP17):c.228G>C (p.Glu76Asp)	MMP17 (E76D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292890	NM_016155.7(MMP17):c.1732G>C (p.Val578Leu)	MMP17 (V578L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2292759	NM_016155.7(MMP17):c.256C>G (p.Gln86Glu)	MMP17 (Q86E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282793	NM_016155.7(MMP17):c.841G>A (p.Gly281Arg)	MMP17 (G197R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280371	NM_016155.7(MMP17):c.1669G>A (p.Gly557Ser)	MMP17 (G557S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278063	NM_016155.7(MMP17):c.1480C>T (p.Arg494Cys)	MMP17 (R494C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277601	NM_016155.7(MMP17):c.463A>T (p.Thr155Ser)	MMP17 (T155S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270092	NM_016155.7(MMP17):c.1294G>A (p.Asp432Asn)	MMP17 (D432N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259133	NM_016155.7(MMP17):c.490C>T (p.Leu164Phe)	MMP17 (L164F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257534	NM_016155.7(MMP17):c.220A>G (p.Thr74Ala)	MMP17 (T74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244035	NM_016155.7(MMP17):c.889C>T (p.Arg297Trp)	MMP17 (R213W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235153	NM_016155.7(MMP17):c.589G>A (p.Gly197Ser)	MMP17 (G113S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228201	NM_016155.7(MMP17):c.178G>C (p.Gly60Arg)	MMP17 (G60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227620	NM_016155.7(MMP17):c.25C>G (p.Pro9Ala)	MMP17 (P9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221479	NM_016155.7(MMP17):c.1661C>T (p.Ser554Leu)	MMP17 (S470L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527747	GRCh37/hg19 12q24.33(chr12:131657203-133227428)	DDX51, EP400 +10 more	Copy number loss	not specified	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 981005	GRCh37/hg19 12q24.33(chr12:132230559-132545601)x3	EP400, MMP17 +3 more	Copy number gain	not provided	GUncertain significance
Select item 782132	NM_016155.7(MMP17):c.232C>A (p.Leu78Met)	MMP17 (L78M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 777691	NM_016155.7(MMP17):c.744C>T (p.His248=)	MMP17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776779	NM_016155.7(MMP17):c.597C>A (p.Pro199=)	MMP17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715457	NM_016155.7(MMP17):c.1318A>G (p.Asn440Asp)	MMP17 (N440D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711465	NM_016155.7(MMP17):c.819G>A (p.Pro273=)	MMP17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	not provided	GUncertain significance
Select item 687663	GRCh37/hg19 12q24.33(chr12:131505849-132681966)x3	ADGRD1, DDX51 +6 more	Copy number gain	not provided	GUncertain significance
Select item 638102	GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3	EP400, FBRSL1 +23 more	Copy number gain	See cases	GPathogenic
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic
Select item 563980	GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3	ZNF10, PGAM5 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 563961	GRCh37/hg19 12q24.33(chr12:131808459-132623611)x3	MMP17, PUS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394199	GRCh37/hg19 12q24.33(chr12:132073314-132457696)x3	ULK1, EP400 +3 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic

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