Related gene-specific medical variations for Gene (Select 256892) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303008	NM_001004752.2(OR51F1):c.667A>G (p.Ile223Val)	MMP26, OR51F1 (I223V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303007	NM_001004752.2(OR51F1):c.194A>G (p.His65Arg)	MMP26, OR51F1 (H65R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303006	NM_001004752.2(OR51F1):c.155G>A (p.Ser52Asn)	MMP26, OR51F1 (S52N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303005	NM_001004752.2(OR51F1):c.254C>G (p.Ser85Cys)	MMP26, OR51F1 (S85C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205797	NM_001004752.2(OR51F1):c.905G>A (p.Ser302Asn)	MMP26, OR51F1 (S302N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205796	NM_001004752.2(OR51F1):c.839T>G (p.Val280Gly)	MMP26, OR51F1 (V280G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205795	NM_001004752.2(OR51F1):c.497T>G (p.Leu166Trp)	MMP26, OR51F1 (L166W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205794	NM_001004752.2(OR51F1):c.379A>C (p.Thr127Pro)	MMP26, OR51F1 (T127P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205793	NM_001004752.2(OR51F1):c.31C>G (p.Leu11Val)	MMP26, OR51F1 (L11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616184	NM_001004752.2(OR51F1):c.73G>A (p.Gly25Ser)	MMP26, OR51F1 (G25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611956	NM_001004752.2(OR51F1):c.274G>A (p.Gly92Ser)	MMP26, OR51F1 (G92S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601304	NM_001004752.2(OR51F1):c.815G>A (p.Arg272His)	MMP26, OR51F1 (R272H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2548462	NM_001004752.2(OR51F1):c.50A>C (p.Lys17Thr)	MMP26, OR51F1 (K17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508859	NM_001004752.2(OR51F1):c.823C>T (p.Arg275Trp)	MMP26, OR51F1 (R275W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487304	NM_001004752.2(OR51F1):c.608C>A (p.Ala203Glu)	MMP26, OR51F1 (A203E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461318	NM_001004752.2(OR51F1):c.479G>T (p.Arg160Leu)	MMP26, OR51F1 (R160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412414	NM_001004752.2(OR51F1):c.880C>G (p.Pro294Ala)	MMP26, OR51F1 (P294A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406561	NM_001004752.2(OR51F1):c.478C>T (p.Arg160Cys)	MMP26, OR51F1 (R160C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373758	NM_001004752.2(OR51F1):c.926G>A (p.Arg309His)	MMP26, OR51F1 (R309H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2353092	NM_001004752.2(OR51F1):c.314G>A (p.Ser105Asn)	MMP26, OR51F1 (S105N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337136	NM_001004752.2(OR51F1):c.547C>T (p.Leu183Phe)	MMP26, OR51F1 (L183F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334864	NM_001004752.2(OR51F1):c.97C>A (p.His33Asn)	MMP26, OR51F1 (H33N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324084	NM_001004752.2(OR51F1):c.614G>A (p.Ser205Asn)	MMP26, OR51F1 (S205N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221441	NM_001004752.2(OR51F1):c.100G>T (p.Val34Phe)	MMP26, OR51F1 (V34F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217734	NM_001004752.2(OR51F1):c.148G>A (p.Gly50Arg)	MMP26, OR51F1 (G50R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403275	NM_001004752.2(OR51F1):c.295del (p.Arg99fs)	MMP26, OR51F1 (R99fs)	Deletion (frameshift variant)	not specified	GBenign

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Items: 26