"Ambry Genetics"[submitter] AND "MMP8"[gene] - ClinVar

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

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3168694	NM_002424.3(MMP8):c.1193A>G (p.Tyr398Cys)	MMP8 (Y375C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168660	NM_002424.3(MMP8):c.1120G>A (p.Val374Ile)	MMP8 (V351I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272528	NM_002424.3(MMP8):c.1118G>A (p.Ser373Asn)	MMP8 (S350N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484668	NM_002424.3(MMP8):c.1096T>A (p.Ser366Thr)	MMP8 (S366T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352307	NM_002424.3(MMP8):c.1064A>G (p.Tyr355Cys)	MMP8 (Y332C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529352	NM_002424.3(MMP8):c.1009G>T (p.Asp337Tyr)	MMP8 (D314Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259609	NM_002424.3(MMP8):c.980C>T (p.Thr327Ile)	MMP8 (T304I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330670	NM_002424.3(MMP8):c.908T>C (p.Phe303Ser)	MMP8 (F303S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213703	NM_002424.3(MMP8):c.874C>T (p.Arg292Cys)	MMP8 (R292C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317205	NM_002424.3(MMP8):c.868A>G (p.Thr290Ala)	MMP8 (T267A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219570	NM_002424.3(MMP8):c.763G>A (p.Asp255Asn)	MMP8 (D232N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169144	NM_002424.3(MMP8):c.724A>G (p.Arg242Gly)	MMP8 (R219G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513819	NM_002424.3(MMP8):c.691C>T (p.Pro231Ser)	MMP8 (P231S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169077	NM_002424.3(MMP8):c.679C>T (p.His227Tyr)	MMP8 (H204Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169044	NM_002424.3(MMP8):c.649C>T (p.His217Tyr)	MMP8 (H217Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169008	NM_002424.3(MMP8):c.619G>A (p.Ala207Thr)	MMP8 (A184T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168973	NM_002424.3(MMP8):c.563A>G (p.Gln188Arg)	MMP8 (Q188R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464878	NM_002424.3(MMP8):c.530A>G (p.Asn177Ser)	MMP8 (N177S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275994	NM_002424.3(MMP8):c.450G>C (p.Arg150Ser)	MMP8 (R127S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168892	NM_002424.3(MMP8):c.424G>A (p.Val142Ile)	MMP8 (V119I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264263	NM_002424.3(MMP8):c.379G>T (p.Ala127Ser)	MMP8 (A104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294068	NM_002424.3(MMP8):c.337T>G (p.Leu113Val)	MMP8 (L113V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252755	NM_002424.3(MMP8):c.320A>C (p.Lys107Thr)	MMP8 (K84T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215021	NM_002424.3(MMP8):c.305C>T (p.Thr102Ile)	MMP8 (T102I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209182	NM_002424.3(MMP8):c.290G>A (p.Gly97Asp)	MMP8 (G97D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168730	NM_002424.3(MMP8):c.131C>T (p.Pro44Leu)	MMP8 (P21L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305171	NM_002424.3(MMP8):c.109C>G (p.Leu37Val)	MMP8 (L14V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168502	NM_002424.3(MMP8):c.101A>G (p.Gln34Arg)	LOC126861316, MMP8 (Q34R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2272593	NM_002424.3(MMP8):c.58G>A (p.Ala20Thr)	LOC126861316, MMP8 (A20T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29