"GeneDx"[submitter] AND "MMP1"[gene] - ClinVar

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Search results

Items: 34

	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 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 1267876	NM_002421.4(MMP1):c.*269C>T	MMP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1255299	NM_002421.4(MMP1):c.*184T>C	MMP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1233849	NM_002421.4(MMP1):c.*63C>T	MMP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1245928	NM_002421.4(MMP1):c.*44A>G	MMP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1260456	NM_002421.4(MMP1):c.1301-24A>C	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182135	NM_002421.4(MMP1):c.1197-58T>C	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283938	NM_002421.4(MMP1):c.1197-128C>T	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260475	NM_002421.4(MMP1):c.1197-220C>T	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288820	NM_002421.4(MMP1):c.1196+251C>G	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273339	NM_002421.4(MMP1):c.1034-240A>G	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293714	NM_002421.4(MMP1):c.900-34A>G	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175389	NM_002421.4(MMP1):c.900-239A>C	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234842	NM_002421.4(MMP1):c.899+236A>G	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280205	NM_002421.4(MMP1):c.899+221T>A	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264388	NM_002421.4(MMP1):c.782-15T>C	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281805	NM_002421.4(MMP1):c.782-21T>C	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288920	NM_002421.4(MMP1):c.781+19A>G	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403092	NM_002421.4(MMP1):c.648A>G (p.Ala216=)	MMP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1278000	NM_002421.4(MMP1):c.626-219G>T	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224129	NM_002421.4(MMP1):c.626-317C>A	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269770	NM_002421.4(MMP1):c.625+332G>A	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403093	NM_002421.4(MMP1):c.315G>A (p.Gly105=)	MMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1244112	NM_002421.4(MMP1):c.105+114_105+115del	MMP1	Deletion (intron variant)	not provided	GBenign
Select item 802715	NM_002421.4(MMP1):c.105+115del	MMP1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1230613	NM_002421.4(MMP1):c.105+33A>T	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286243	NM_002421.4(MMP1):c.105+32A>C	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235418	NM_002421.4(MMP1):c.105+17A>G	MMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282380	NM_002421.4(MMP1):c.-59C>T	MMP1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1236601	NC_000011.10:g.102798479A>G	MMP1	Single nucleotide variant	not provided	GBenign
Select item 1266190	NC_000011.10:g.102798499A>G	MMP1	Single nucleotide variant	not provided	GBenign
Select item 1229767	NC_000011.10:g.102798678T>C	MMP1	Single nucleotide variant	not provided	GBenign

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Items: 34