MMP7[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	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 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	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 2403965	NM_002423.5(MMP7):c.730T>G (p.Phe244Val)	MMP7 (F244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768477	NM_002423.5(MMP7):c.722C>T (p.Pro241Leu)	MMP7 (P241L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3295345	NM_002423.5(MMP7):c.589C>T (p.Arg197Cys)	MMP7 (R197C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295346	NM_002423.5(MMP7):c.557T>C (p.Leu186Pro)	MMP7 (L186P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613260	NM_002423.5(MMP7):c.536C>T (p.Ala179Val)	MMP7 (A179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168271	NM_002423.5(MMP7):c.470G>A (p.Gly157Asp)	MMP7 (G157D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614687	NM_002423.5(MMP7):c.455C>A (p.Ala152Asp)	MMP7 (A152D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168172	NM_002423.5(MMP7):c.403A>T (p.Met135Leu)	MMP7 (M135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168146	NM_002423.5(MMP7):c.382T>G (p.Leu128Val)	MMP7 (L128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615315	NM_002423.5(MMP7):c.356A>G (p.Asp119Gly)	MMP7 (D119G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756760	NM_002423.5(MMP7):c.339C>T (p.Ile113=)	MMP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725607	NM_002423.5(MMP7):c.285C>T (p.Tyr95=)	MMP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776652	NM_002423.5(MMP7):c.231C>T (p.Arg77=)	MMP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715307	NM_002423.5(MMP7):c.151A>C (p.Asn51His)	MMP7 (N51H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2475233	NM_002423.5(MMP7):c.136G>A (p.Asp46Asn)	MMP7 (D46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372848	NM_002423.5(MMP7):c.92A>G (p.Gln31Arg)	MMP7 (Q31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260191	NM_002423.5(MMP7):c.71C>T (p.Ala24Val)	MMP7 (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168353	NM_002423.5(MMP7):c.56C>T (p.Pro19Leu)	MMP7 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287870	NM_002423.5(MMP7):c.40G>A (p.Gly14Ser)	MMP7 (G14S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2330594	NM_002423.5(MMP7):c.20G>A (p.Cys7Tyr)	MMP7 (C7Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	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	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527667	GRCh37/hg19 11q22.2(chr11:102308740-102676879)	LOC100128088, MMP1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1455268	NC_000011.9:g.(?_101323686)_(103349981_?)del	ANGPTL5, BIRC2 +17 more	Deletion	not provided	GPathogenic
Select item 1340597	GRCh37/hg19 11q22.2(chr11:102376794-102439233)x1	MMP7	Copy number loss	not provided	GUncertain significance
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
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 442680	GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1	ANGPTL5, ARHGAP42 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 394360	GRCh37/hg19 11q22.2(chr11:102323664-102401448)x3	MMP7, TMEM123	Copy number gain	See cases	GUncertain significance

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Items: 46