MMP10[gene] and "single gene"[properties] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2564625	NM_002425.3(MMP10):c.1389G>A (p.Met463Ile)	MMP10 (M463I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149725	NM_002425.3(MMP10):c.1343T>C (p.Phe448Ser)	MMP10 (F448S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232131	NM_002425.3(MMP10):c.1329T>G (p.Phe443Leu)	MMP10 (F443L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1317643	NM_002425.3(MMP10):c.1200C>A (p.Tyr400Ter)	MMP10 (Y400*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2642322	NM_002425.3(MMP10):c.1168G>T (p.Ala390Ser)	MMP10 (A390S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3149618	NM_002425.3(MMP10):c.1147A>G (p.Thr383Ala)	MMP10 (T383A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149581	NM_002425.3(MMP10):c.1130C>T (p.Thr377Ile)	MMP10 (T377I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295265	NM_002425.3(MMP10):c.1123A>T (p.Ile375Phe)	MMP10 (I375F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295263	NM_002425.3(MMP10):c.1095T>A (p.Asn365Lys)	MMP10 (N365K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379302	NM_002425.3(MMP10):c.1052T>C (p.Val351Ala)	MMP10 (V351A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295262	NM_002425.3(MMP10):c.980T>C (p.Leu327Ser)	MMP10 (L327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732348	NM_002425.3(MMP10):c.948A>G (p.Arg316=)	MMP10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3150520	NM_002425.3(MMP10):c.889G>A (p.Ala297Thr)	MMP10 (A297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150490	NM_002425.3(MMP10):c.823C>G (p.Pro275Ala)	MMP10 (P275A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 765622	NM_002425.3(MMP10):c.816C>T (p.Pro272=)	MMP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2307819	NM_002425.3(MMP10):c.797C>T (p.Pro266Leu)	MMP10 (P266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150416	NM_002425.3(MMP10):c.773T>G (p.Ile258Ser)	MMP10 (I258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516665	NM_002425.3(MMP10):c.762T>A (p.Asp254Glu)	MMP10 (D254E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150340	NM_002425.3(MMP10):c.664T>C (p.Ser222Pro)	MMP10 (S222P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549822	NM_002425.3(MMP10):c.598G>A (p.Glu200Lys)	MMP10 (E200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348631	NM_002425.3(MMP10):c.578A>G (p.Asp193Gly)	MMP10 (D193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150232	NM_002425.3(MMP10):c.529G>A (p.Gly177Arg)	MMP10 (G177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371138	NM_002425.3(MMP10):c.509T>C (p.Phe170Ser)	MMP10 (F170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150163	NM_002425.3(MMP10):c.503G>A (p.Gly168Glu)	MMP10 (G168E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642323	NM_002425.3(MMP10):c.497-2A>G	MMP10	Single nucleotide variant (splice acceptor variant)	not provided	GBenign
Select item 3150132	NM_002425.3(MMP10):c.481T>G (p.Ser161Ala)	MMP10 (S161A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150092	NM_002425.3(MMP10):c.473T>C (p.Ile158Thr)	MMP10 (I158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150063	NM_002425.3(MMP10):c.436C>T (p.Leu146Phe)	MMP10 (L146F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295264	NM_002425.3(MMP10):c.404A>G (p.Lys135Arg)	MMP10 (K135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404187	NM_002425.3(MMP10):c.400G>A (p.Glu134Lys)	MMP10 (E134K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385143	NM_002425.3(MMP10):c.398T>C (p.Ile133Thr)	MMP10 (I133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602498	NM_002425.3(MMP10):c.397A>G (p.Ile133Val)	MMP10 (I133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149875	NM_002425.3(MMP10):c.377G>A (p.Arg126Lys)	MMP10 (R126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376804	NM_002425.3(MMP10):c.367G>A (p.Asp123Asn)	MMP10 (D123N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716320	NM_002425.3(MMP10):c.314T>A (p.Met105Lys)	MMP10 (M105K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2322092	NM_002425.3(MMP10):c.298A>G (p.Ser100Gly)	MMP10 (S100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553846	NM_002425.3(MMP10):c.139G>A (p.Asp47Asn)	MMP10 (D47N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492241	NM_002425.3(MMP10):c.125A>G (p.Tyr42Cys)	MMP10 (Y42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270391	NM_002425.3(MMP10):c.53A>G (p.Tyr18Cys)	MMP10 (Y18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184864	NM_002425.3(MMP10):c.32_33del (p.Cys11fs)	MMP10 (C11fs)	Microsatellite (frameshift variant)	Essential tremor	GUncertain significance
Select item 3295261	NM_002425.3(MMP10):c.32G>A (p.Cys11Tyr)	MMP10 (C11Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1244144	NM_002425.3(MMP10):c.10C>G (p.Leu4Val)	MMP10 (L4V)	Single nucleotide variant (missense variant)	not provided	GBenign

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Items: 42