Related gene-specific medical variations for Gene (Select 124637) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3498908	NM_144607.6(CYB5D1):c.407G>A (p.Arg136Gln)	NAA38, CYB5D1 (R136Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3498907	NM_144607.6(CYB5D1):c.218T>C (p.Phe73Ser)	CYB5D1, NAA38 (F73S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270446	NM_144607.6(CYB5D1):c.566T>C (p.Phe189Ser)	CYB5D1, NAA38 (F189S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3270445	NM_144607.6(CYB5D1):c.197G>A (p.Gly66Asp)	NAA38, CYB5D1 (G66D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079266	NM_144607.6(CYB5D1):c.91C>T (p.Pro31Ser)	CYB5D1, NAA38 (P31S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079265	NM_144607.6(CYB5D1):c.561G>A (p.Met187Ile)	CYB5D1, NAA38 (M187I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3079264	NM_144607.6(CYB5D1):c.416G>A (p.Arg139His)	CYB5D1, NAA38 (R139H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079263	NM_144607.6(CYB5D1):c.348T>G (p.Phe116Leu)	CYB5D1, NAA38 (F116L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079262	NM_144607.6(CYB5D1):c.11G>A (p.Arg4Gln)	CYB5D1, NAA38 (R4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614406	NM_144607.6(CYB5D1):c.208A>G (p.Ser70Gly)	CYB5D1, NAA38 (S70G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603528	NM_144607.6(CYB5D1):c.526T>C (p.Tyr176His)	CYB5D1, NAA38 (L153P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557853	NM_144607.6(CYB5D1):c.670G>C (p.Asp224His)	NAA38, CYB5D1 (D224H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2514870	NM_144607.6(CYB5D1):c.614A>G (p.Tyr205Cys)	CYB5D1, NAA38 (Y205C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2512795	NM_144607.6(CYB5D1):c.562G>C (p.Asp188His)	CYB5D1, NAA38 (D188H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2489697	NM_144607.6(CYB5D1):c.7C>T (p.Arg3Cys)	CYB5D1, NAA38 (R3C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349820	NM_144607.6(CYB5D1):c.604G>C (p.Glu202Gln)	CYB5D1, NAA38 (E202Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2340575	NM_144607.6(CYB5D1):c.342C>G (p.Asn114Lys)	CYB5D1, NAA38 (N114K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336466	NM_144607.6(CYB5D1):c.65C>G (p.Pro22Arg)	CYB5D1, NAA38 (P22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273414	NM_144607.6(CYB5D1):c.233G>A (p.Arg78Lys)	CYB5D1, NAA38 (R78K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2242481	NM_144607.6(CYB5D1):c.506A>G (p.Tyr169Cys)	CYB5D1, NAA38 (Y169C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218487	NM_144607.6(CYB5D1):c.493C>T (p.Arg165Cys)	CYB5D1, NAA38 (R165C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 21