"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CYB5R3"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1330967	NM_000398.7(CYB5R3):c.903C>T (p.Phe301=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694657	NM_000398.7(CYB5R3):c.890G>A (p.Arg297His)	CYB5R3 (R274H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 505719	NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)	CYB5R3 (V253M +2 more)	Single nucleotide variant (missense variant)	Hereditary methemoglobinemia +2 more	GPathogenic/Likely pathogenic
Select item 708160	NM_000398.7(CYB5R3):c.734-8C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739185	NM_000398.7(CYB5R3):c.537G>A (p.Ala179=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2138453	NM_000398.7(CYB5R3):c.434C>T (p.Pro145Leu)	CYB5R3 (P178L +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 778956	NM_000398.7(CYB5R3):c.432C>T (p.Gly144=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 809380	NM_000398.7(CYB5R3):c.352C>T (p.His118Tyr)	CYB5R3 (H118Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715467	NM_000398.7(CYB5R3):c.297C>T (p.Ser99=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2653259	NM_001165877.1(ATP5MGL):c.300C>G (p.Gly100=)	ATP5MGL, CYB5R3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign