Related gene-specific medical variations for Gene (Select 79324) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3205816	NM_001005237.1(OR51G1):c.832A>G (p.Met278Val)	MMP26, OR51G1 (M278V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205815	NM_001005237.1(OR51G1):c.661G>T (p.Ala221Ser)	MMP26, OR51G1 (A221S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205814	NM_001005237.1(OR51G1):c.581T>G (p.Ile194Ser)	MMP26, OR51G1 (I194S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205813	NM_001005237.1(OR51G1):c.502T>G (p.Phe168Val)	MMP26, OR51G1 (F168V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205812	NM_001005237.1(OR51G1):c.206C>T (p.Ala69Val)	MMP26, OR51G1 (A69V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205811	NM_001005237.1(OR51G1):c.196G>A (p.Gly66Ser)	MMP26, OR51G1 (G66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205810	NM_001005237.1(OR51G1):c.113T>C (p.Leu38Pro)	MMP26, OR51G1 (L38P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617626	NM_001005237.1(OR51G1):c.661G>A (p.Ala221Thr)	MMP26, OR51G1 (A221T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556394	NM_001005237.1(OR51G1):c.308T>A (p.Leu103His)	MMP26, OR51G1 (L103H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555509	NM_001005237.1(OR51G1):c.572G>T (p.Cys191Phe)	MMP26, OR51G1 (C191F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476025	NM_001005237.1(OR51G1):c.95C>A (p.Pro32His)	MMP26, OR51G1 (P32H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472269	NM_001005237.1(OR51G1):c.905G>A (p.Arg302His)	MMP26, OR51G1 (R302H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466781	NM_001005237.1(OR51G1):c.674G>T (p.Arg225Leu)	MMP26, OR51G1 (R225L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462785	NM_001005237.1(OR51G1):c.500G>A (p.Arg167His)	MMP26, OR51G1 (R167H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460537	NM_001005237.1(OR51G1):c.382G>A (p.Val128Ile)	MMP26, OR51G1 (V128I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2456315	NM_001005237.1(OR51G1):c.142C>G (p.Leu48Val)	MMP26, OR51G1 (L48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409126	NM_001005237.1(OR51G1):c.771G>A (p.Met257Ile)	MMP26, OR51G1 (M257I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400631	NM_001005237.1(OR51G1):c.611T>C (p.Val204Ala)	MMP26, OR51G1 (V204A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376684	NM_001005237.1(OR51G1):c.594C>A (p.His198Gln)	MMP26, OR51G1 (H198Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366912	NM_001005237.1(OR51G1):c.50C>T (p.Thr17Met)	MMP26, OR51G1 (T17M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2359052	NM_001005237.1(OR51G1):c.617C>T (p.Ala206Val)	MMP26, OR51G1 (A206V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319150	NM_001005237.1(OR51G1):c.911G>A (p.Arg304His)	MMP26, OR51G1 (R304H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306956	NM_001005237.1(OR51G1):c.939G>C (p.Lys313Asn)	MMP26, OR51G1 (K313N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305515	NM_001005237.1(OR51G1):c.349C>A (p.Leu117Met)	MMP26, OR51G1 (L117M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290205	NM_001005237.1(OR51G1):c.920A>G (p.Lys307Arg)	MMP26, OR51G1 (K307R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285881	NM_001005237.1(OR51G1):c.256A>G (p.Ile86Val)	MMP26, OR51G1 (I86V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283105	NM_001005237.1(OR51G1):c.132C>A (p.Asn44Lys)	MMP26, OR51G1 (N44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261773	NM_001005237.1(OR51G1):c.148G>A (p.Val50Ile)	MMP26, OR51G1 (V50I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215305	NM_001005237.1(OR51G1):c.565C>G (p.Leu189Val)	MMP26, OR51G1 (L189V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214317	NM_001005237.1(OR51G1):c.247G>C (p.Val83Leu)	MMP26, OR51G1 (V83L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212123	NM_001005237.1(OR51G1):c.475C>A (p.Leu159Ile)	MMP26, OR51G1 (L159I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 31