CYB5D2[gene] and "single gene"[properties] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2293859	NM_144611.4(CYB5D2):c.19C>T (p.Arg7Cys)	CYB5D2 (R7C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471126	NM_144611.4(CYB5D2):c.53C>T (p.Ala18Val)	CYB5D2 (A18V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510184	NM_144611.4(CYB5D2):c.56C>T (p.Ala19Val)	CYB5D2 (A19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318378	NM_144611.4(CYB5D2):c.88G>A (p.Gly30Ser)	CYB5D2 (G30S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3079267	NM_144611.4(CYB5D2):c.154G>C (p.Asp52His)	CYB5D2 (D52H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236305	NM_144611.4(CYB5D2):c.185G>T (p.Arg62Leu)	CYB5D2 (R62L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489962	NM_144611.4(CYB5D2):c.236A>G (p.Tyr79Cys)	CYB5D2 (Y79C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321683	NM_144611.4(CYB5D2):c.269C>T (p.Ala90Val)	CYB5D2 (A90V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2295000	NM_144611.4(CYB5D2):c.274G>C (p.Val92Leu)	CYB5D2 (V92L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2377318	NM_144611.4(CYB5D2):c.313G>T (p.Val105Leu)	CYB5D2 (V105L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2608475	NM_144611.4(CYB5D2):c.321C>A (p.Asp107Glu)	CYB5D2 (D107E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209604	NM_144611.4(CYB5D2):c.388G>T (p.Val130Phe)	CYB5D2 (V130F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482943	NM_144611.4(CYB5D2):c.392G>C (p.Gly131Ala)	CYB5D2 (G131A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265768	NM_144611.4(CYB5D2):c.407G>A (p.Arg136Gln)	CYB5D2 (R136Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079268	NM_144611.4(CYB5D2):c.437C>T (p.Pro146Leu)	CYB5D2 (P146L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543879	NM_144611.4(CYB5D2):c.451G>A (p.Val151Ile)	CYB5D2 (V151I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460075	NM_144611.4(CYB5D2):c.486C>A (p.Asn162Lys)	CYB5D2 (N162K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079269	NM_144611.4(CYB5D2):c.512C>T (p.Thr171Ile)	CYB5D2 (T171I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526213	NM_144611.4(CYB5D2):c.708C>G (p.His236Gln)	CYB5D2 (H236Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613529	NM_144611.4(CYB5D2):c.723C>A (p.Asp241Glu)	CYB5D2 (D241E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232360	NM_144611.4(CYB5D2):c.730C>T (p.His244Tyr)	CYB5D2 (H132Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378652	NM_144611.4(CYB5D2):c.764C>T (p.Pro255Leu)	CYB5D2 (P143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 22