ClinVar for MedGen (Select 436369) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2154681	NM_032609.3(COX4I2):c.28G>A (p.Val10Met)	COX4I2 (V10M)	Single nucleotide variant (missense variant)	Pancreatic insufficiency-anemia-hyperostosis syndrome +1 more	GUncertain significance
Select item 2073077	NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)	COX4I2 (F111L)	Single nucleotide variant (missense variant)	Pancreatic insufficiency-anemia-hyperostosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1032977	NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro)	COX4I2 (A59P)	Single nucleotide variant (missense variant)	Pancreatic insufficiency-anemia-hyperostosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 811601	NM_032609.3(COX4I2):c.408G>A (p.Thr136=)	COX4I2	Single nucleotide variant (synonymous variant)	Pancreatic insufficiency-anemia-hyperostosis syndrome +1 more	GLikely benign
Select item 618043	NM_032609.3(COX4I2):c.88G>C (p.Gly30Arg)	COX4I2 (G30R)	Single nucleotide variant (missense variant)	Pancreatic insufficiency-anemia-hyperostosis syndrome +1 more	GBenign/Likely benign
Select item 338032	NM_032609.3(COX4I2):c.83-8_83-7del	COX4I2	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2655	NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys)	COX4I2 (E138K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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