ClinVar for Gene (Select 4314) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058044	NM_002422.5(MMP3):c.626-3T>C	MMP3	Single nucleotide variant (intron variant)	MMP3-related condition	GLikely benign
Select item 3046190	NM_002422.5(MMP3):c.-7A>C	MMP3	Single nucleotide variant (5 prime UTR variant)	MMP3-related condition	GLikely benign
Select item 2684654	GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3	ANGPTL5, ARHGAP42 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2572978	NM_002422.5(MMP3):c.583G>T (p.Ala195Ser)	MMP3 (A195S)	Single nucleotide variant (missense variant)	Mendelian syndromes with cleft lip/palate	GUncertain significance
Select item 2551316	NM_002422.5(MMP3):c.989C>A (p.Ser330Tyr)	MMP3 (S330Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545962	NM_002422.5(MMP3):c.970C>T (p.Pro324Ser)	MMP3 (P324S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536475	NM_002422.5(MMP3):c.527G>A (p.Gly176Glu)	MMP3 (G176E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460486	NM_002422.5(MMP3):c.809C>T (p.Pro270Leu)	MMP3 (P270L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	GUncertain significance
Select item 2399808	NM_002422.5(MMP3):c.244G>A (p.Asp82Asn)	MMP3 (D82N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389139	NM_002422.5(MMP3):c.1169C>T (p.Ala390Val)	MMP3 (A390V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387584	NM_002422.5(MMP3):c.963G>T (p.Lys321Asn)	MMP3 (K321N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376133	NM_002422.5(MMP3):c.788A>G (p.Tyr263Cys)	MMP3 (Y263C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346857	NM_002422.5(MMP3):c.476T>C (p.Ile159Thr)	MMP3 (I159T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344601	NM_002422.5(MMP3):c.289G>A (p.Val97Ile)	MMP3 (V97I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314463	NM_002422.5(MMP3):c.290T>C (p.Val97Ala)	MMP3 (V97A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302088	NM_002422.5(MMP3):c.1126A>T (p.Ile376Phe)	MMP3 (I376F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295819	NM_002422.5(MMP3):c.1319T>C (p.Val440Ala)	MMP3 (V440A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288281	NM_002422.5(MMP3):c.211C>G (p.Leu71Val)	MMP3 (L71V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284267	NM_002422.5(MMP3):c.1385C>G (p.Ala462Gly)	MMP3 (A462G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283292	NM_002422.5(MMP3):c.755C>A (p.Ser252Tyr)	MMP3 (S252Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275903	NM_002422.5(MMP3):c.526G>A (p.Gly176Arg)	MMP3 (G176R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270702	NM_002422.5(MMP3):c.1300G>T (p.Asp434Tyr)	MMP3 (D434Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240940	NM_002422.5(MMP3):c.23T>C (p.Leu8Pro)	MMP3 (L8P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219919	NM_002422.5(MMP3):c.830C>T (p.Thr277Met)	MMP3 (T277M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1807932	GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3	ANGPTL5, ARHGAP42 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1807796	GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1	ANGPTL5, ARHGAP42 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1455268	NC_000011.9:g.(?_101323686)_(103349981_?)del	ANGPTL5, BIRC2 +17 more	Deletion	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1288116	NM_002422.5(MMP3):c.106-188del	MMP3	Deletion (intron variant)	not provided	GBenign
Select item 1286978	NM_002422.5(MMP3):c.1333+115T>C	MMP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286348	NM_002422.5(MMP3):c.935+132A>T	MMP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278499	NM_002422.5(MMP3):c.499+28CAAAA[2]	MMP3	Microsatellite (intron variant)	not provided	GBenign
Select item 1274196	NM_002422.5(MMP3):c.1070-81A>T	MMP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263820	NM_002422.5(MMP3):c.1334-348C>T	MMP3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1262266	NM_002422.5(MMP3):c.106-130C>G	MMP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250922	NM_002422.5(MMP3):c.500-36G>A	MMP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246283	NM_002422.5(MMP3):c.1070-22_1070-21del	MMP3	Microsatellite (intron variant)	not provided	GBenign
Select item 1245698	NM_002422.5(MMP3):c.626-257G>C	MMP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237622	NM_002422.5(MMP3):c.106-197dup	MMP3	Duplication (intron variant)	not provided	GBenign
Select item 1224000	NM_002422.5(MMP3):c.499+2T>A	MMP3	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 1223368	NM_002422.5(MMP3):c.936-109C>T	MMP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222602	NC_000011.10:g.102843985C>G	MMP3	Single nucleotide variant	not provided	GBenign
Select item 1221039	NM_002422.5(MMP3):c.499+37A>G	MMP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1050567	NC_000011.10:g.102847936G>C	MMP3	Single nucleotide variant	not provided	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 788567	NM_002422.5(MMP3):c.478A>T (p.Met160Leu)	MMP3 (M160L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 781046	NM_002422.5(MMP3):c.858G>T (p.Thr286=)	MMP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781045	NM_002422.5(MMP3):c.1131C>T (p.His377=)	MMP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779314	NM_002422.5(MMP3):c.58T>C (p.Leu20=)	MMP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779264	NM_002422.5(MMP3):c.457T>C (p.Tyr153His)	MMP3 (Y153H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 770980	NM_002422.5(MMP3):c.792A>G (p.Gly264=)	MMP3	Single nucleotide variant (synonymous variant)	MMP3-related condition +1 more	GBenign/Likely benign
Select item 758794	NM_002422.5(MMP3):c.126C>T (p.Tyr42=)	MMP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756913	NM_002422.5(MMP3):c.711C>T (p.Tyr237=)	MMP3	Single nucleotide variant (synonymous variant)	MMP3-related condition +1 more	GLikely benign
Select item 753445	NM_002422.5(MMP3):c.480G>T (p.Met160Ile)	MMP3 (M160I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 735165	NM_002422.5(MMP3):c.1305A>G (p.Ser435=)	MMP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733371	NM_002422.5(MMP3):c.228G>A (p.Thr76=)	MMP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714263	NM_002422.5(MMP3):c.12T>A (p.Leu4=)	MMP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710013	NM_002422.5(MMP3):c.249T>C (p.Thr83=)	MMP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563877	GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1	AASDHPPT, CARD16 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 442680	GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1	ANGPTL5, ARHGAP42 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +96 more	Copy number loss	See cases	GPathogenic
Select item 403098	NM_002422.5(MMP3):c.133A>G (p.Lys45Glu)	MMP3 (K45E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403097	NM_002422.5(MMP3):c.288T>C (p.Asp96=)	MMP3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403096	NM_002422.5(MMP3):c.306C>G (p.Thr102=)	MMP3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403095	NM_002422.5(MMP3):c.626-14A>G	MMP3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 403094	NM_002422.5(MMP3):c.1086T>C (p.Ala362=)	MMP3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 394069	GRCh37/hg19 11q22.2(chr11:102642841-102826187)x1	MMP1, MMP10 +3 more	Copy number loss	See cases	GUncertain significance
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	AASDHPPT, ACAT1 +387 more	Copy number loss	See cases	GPathogenic
Select item 147688	GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3	ANGPTL5, BIRC2 +73 more	Copy number gain	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	ANGPTL5, ARHGAP42 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 12793	NC_000011.10:g.102845221dup	MMP3	Duplication	Coronary heart disease, susceptibility to, 6	Grisk factor

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 83