"Ambry Genetics"[submitter] AND "MMP1"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2267581	NM_002421.4(MMP1):c.1401G>T (p.Arg467Ser)	MMP1 (R401S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295260	NM_002421.4(MMP1):c.1339T>C (p.Phe447Leu)	MMP1 (F381L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295259	NM_002421.4(MMP1):c.1314C>G (p.Phe438Leu)	MMP1 (F372L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308698	NM_002421.4(MMP1):c.1172T>G (p.Phe391Cys)	MMP1 (F391C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220593	NM_002421.4(MMP1):c.1132G>A (p.Asp378Asn)	MMP1 (D312N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286182	NM_002421.4(MMP1):c.1129A>G (p.Ile377Val)	MMP1 (I311V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466014	NM_002421.4(MMP1):c.1037A>C (p.Asn346Thr)	MMP1 (N280T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529456	NM_002421.4(MMP1):c.1006G>A (p.Asp336Asn)	MMP1 (D270N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603274	NM_002421.4(MMP1):c.997G>A (p.Glu333Lys)	MMP1 (E333K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295258	NM_002421.4(MMP1):c.979G>T (p.Gly327Trp)	MMP1 (G261W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225587	NM_002421.4(MMP1):c.913A>G (p.Thr305Ala)	MMP1 (T305A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617287	NM_002421.4(MMP1):c.910C>A (p.Arg304Ser)	MMP1 (R304S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602762	NM_002421.4(MMP1):c.865A>G (p.Thr289Ala)	MMP1 (T289A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2594134	NM_002421.4(MMP1):c.830C>T (p.Ala277Val)	MMP1 (A277V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149313	NM_002421.4(MMP1):c.812G>C (p.Gly271Ala)	MMP1 (G205A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591245	NM_002421.4(MMP1):c.707T>C (p.Met236Thr)	MMP1 (M236T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464717	NM_002421.4(MMP1):c.707T>A (p.Met236Lys)	MMP1 (M170K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606947	NM_002421.4(MMP1):c.682C>A (p.His228Asn)	MMP1 (H162N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312382	NM_002421.4(MMP1):c.680C>T (p.Ser227Phe)	MMP1 (S227F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374712	NM_002421.4(MMP1):c.661G>A (p.Gly221Ser)	MMP1 (G155S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149122	NM_002421.4(MMP1):c.629A>G (p.Tyr210Cys)	MMP1 (Y144C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269113	NM_002421.4(MMP1):c.611C>T (p.Thr204Ile)	MMP1 (T204I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149057	NM_002421.4(MMP1):c.600T>G (p.Asp200Glu)	MMP1 (D200E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295257	NM_002421.4(MMP1):c.494G>A (p.Arg165Lys)	MMP1 (R165K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149026	NM_002421.4(MMP1):c.388G>T (p.Val130Leu)	MMP1 (V64L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475519	NM_002421.4(MMP1):c.385G>T (p.Asp129Tyr)	MMP1 (D129Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148974	NM_002421.4(MMP1):c.382G>C (p.Ala128Pro)	MMP1 (A128P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220826	NM_002421.4(MMP1):c.377C>A (p.Pro126Gln)	MMP1 (P60Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596787	NM_002421.4(MMP1):c.308C>T (p.Thr103Ile)	MMP1 (T37I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220750	NM_002421.4(MMP1):c.286G>T (p.Asp96Tyr)	MMP1 (D96Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358915	NM_002421.4(MMP1):c.226A>C (p.Thr76Pro)	MMP1 (T76P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619933	NM_002421.4(MMP1):c.196C>G (p.Gln66Glu)	MMP1 (Q66E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2365421	NM_002421.4(MMP1):c.178G>C (p.Val60Leu)	MMP1 (V60L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2305765	NM_002421.4(MMP1):c.92T>G (p.Val31Gly)	MMP1 (V31G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511237	NM_002421.4(MMP1):c.65C>T (p.Ala22Val)	MMP1 (A22V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign

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Items: 35