Related gene-specific medical variations for Gene (Select 51167) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3079291	NM_016230.4(CYB5R4):c.992G>A (p.Gly331Asp)	CYB5R4, RIPPLY2-CYB5R4 (G331D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3079290	NM_016230.4(CYB5R4):c.794T>C (p.Leu265Pro)	CYB5R4, RIPPLY2-CYB5R4 (L231P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079289	NM_016230.4(CYB5R4):c.575T>C (p.Leu192Ser)	CYB5R4, RIPPLY2-CYB5R4 (L158S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079288	NM_016230.4(CYB5R4):c.572A>G (p.Asn191Ser)	CYB5R4, RIPPLY2-CYB5R4 (N191S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079286	NM_016230.4(CYB5R4):c.374T>A (p.Leu125Gln)	CYB5R4, RIPPLY2-CYB5R4 (L125Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079285	NM_016230.4(CYB5R4):c.358A>G (p.Met120Val)	CYB5R4, RIPPLY2-CYB5R4 (M120V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079284	NM_016230.4(CYB5R4):c.337C>T (p.Arg113Cys)	CYB5R4, RIPPLY2-CYB5R4 (R113C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079283	NM_016230.4(CYB5R4):c.1317A>C (p.Gln439His)	CYB5R4, RIPPLY2-CYB5R4 (Q405H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604060	NM_016230.4(CYB5R4):c.1283A>G (p.Asn428Ser)	CYB5R4, RIPPLY2-CYB5R4 (N394S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567464	NM_016230.4(CYB5R4):c.281A>G (p.Asp94Gly)	CYB5R4, RIPPLY2-CYB5R4 (D60G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563696	NM_016230.4(CYB5R4):c.589G>A (p.Val197Ile)	CYB5R4, RIPPLY2-CYB5R4 (V197I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551645	NM_016230.4(CYB5R4):c.583A>G (p.Ile195Val)	CYB5R4, RIPPLY2-CYB5R4 (I195V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2536004	NM_016230.4(CYB5R4):c.710T>C (p.Val237Ala)	CYB5R4, RIPPLY2-CYB5R4 (V203A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525711	NM_016230.4(CYB5R4):c.146G>A (p.Gly49Glu)	CYB5R4, RIPPLY2-CYB5R4 (G15E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513607	NM_016230.4(CYB5R4):c.931G>A (p.Val311Ile)	CYB5R4, RIPPLY2-CYB5R4 (V311I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488347	NM_016230.4(CYB5R4):c.1163A>G (p.Gln388Arg)	CYB5R4, RIPPLY2-CYB5R4 (Q388R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370997	NM_016230.4(CYB5R4):c.869C>T (p.Thr290Met)	CYB5R4, RIPPLY2-CYB5R4 (T256M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331144	NM_016230.4(CYB5R4):c.1412C>T (p.Ser471Leu)	CYB5R4, RIPPLY2-CYB5R4 (S437L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304433	NM_016230.4(CYB5R4):c.697G>T (p.Val233Phe)	CYB5R4, RIPPLY2-CYB5R4 (V199F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291465	NM_016230.4(CYB5R4):c.634G>A (p.Asp212Asn)	CYB5R4, RIPPLY2-CYB5R4 (D178N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286333	NM_016230.4(CYB5R4):c.37A>G (p.Arg13Gly)	CYB5R4, RIPPLY2-CYB5R4 (R13G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284258	NM_016230.4(CYB5R4):c.566A>G (p.Asp189Gly)	CYB5R4, RIPPLY2-CYB5R4 (D155G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276347	NM_016230.4(CYB5R4):c.740A>C (p.Lys247Thr)	CYB5R4, RIPPLY2-CYB5R4 (K247T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270612	NM_016230.4(CYB5R4):c.331G>T (p.Val111Phe)	CYB5R4, RIPPLY2-CYB5R4 (V77F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249930	NM_016230.4(CYB5R4):c.62G>C (p.Gly21Ala)	CYB5R4, RIPPLY2-CYB5R4 (G21A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1677835	NM_016230.4(CYB5R4):c.1258_1259del (p.Arg420fs)	CYB5R4, RIPPLY2-CYB5R4 (R420fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 788411	NM_016230.4(CYB5R4):c.799C>G (p.Pro267Ala)	CYB5R4, RIPPLY2-CYB5R4 (P267A)	Single nucleotide variant (missense variant)	not provided	GBenign

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Links from Gene

Items: 27