"Revvity Omics, Revvity"[submitter] AND "CYB5R3"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440663	NM_000398.7(CYB5R3):c.796G>C (p.Glu266Gln)	CYB5R3 (E243Q +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 505719	NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)	CYB5R3 (V253M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 252	NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)	CYB5R3 (D240G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2688906	NM_000398.7(CYB5R3):c.694C>T (p.Arg232Cys)	CYB5R3 (R209C +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 1608651	NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys)	CYB5R3 (E190K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440659	NM_000398.7(CYB5R3):c.613C>T (p.His205Tyr)	CYB5R3 (H182Y +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 1324199	NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)	CYB5R3 (R169C +2 more)	Single nucleotide variant (missense variant)	CYB5R3-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1502415	NM_000398.7(CYB5R3):c.547+1G>A	CYB5R3	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2440661	NM_000398.7(CYB5R3):c.503T>C (p.Ile168Thr)	CYB5R3 (I145T +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 248	NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter)	CYB5R3 (R160* +2 more)	Single nucleotide variant (nonsense)	Deficiency of cytochrome-b5 reductase +1 more	GPathogenic
Select item 2688907	NM_000398.7(CYB5R3):c.472G>A (p.Ala158Thr)	CYB5R3 (A135T +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2633152	NM_000398.7(CYB5R3):c.394G>C (p.Glu132Gln)	CYB5R3 (E109Q +2 more)	Single nucleotide variant (missense variant)	CYB5R3-related disorder +2 more	GUncertain significance
Select item 2050662	NM_000398.7(CYB5R3):c.367G>A (p.Ala123Thr)	CYB5R3 (A156T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2688904	NM_000398.7(CYB5R3):c.298G>A (p.Asp100Asn)	CYB5R3 (D100N +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2358851	NM_000398.7(CYB5R3):c.245C>T (p.Ser82Leu)	CYB5R3 (S115L +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase +1 more	GUncertain significance
Select item 2230028	NM_000398.7(CYB5R3):c.194C>G (p.Pro65Arg)	CYB5R3 (P98R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2440662	NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)	CYB5R3 (R38H +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GConflicting classifications of pathogenicity
Select item 2440660	NM_000398.7(CYB5R3):c.149G>A (p.Arg50Gln)	CYB5R3 (R27Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440658	NM_000398.7(CYB5R3):c.130C>T (p.Pro44Ser)	CYB5R3 (P21S +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2185889	NM_000398.7(CYB5R3):c.63T>A (p.Ser21Arg)	CYB5R3 (S21R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2688905	NM_000398.7(CYB5R3):c.16A>G (p.Ser6Gly)	CYB5R3, LOC130067609 (S6G)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2440657	NM_000398.7(CYB5R3):c.1A>G (p.Met1Val)	CYB5R3, LOC130067609 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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Items: 22