"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284865	NM_001550.4(IFRD1):c.200-14A>C	IFRD1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 774663	NM_001550.4(IFRD1):c.213T>A (p.Leu71=)	IFRD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1284482	NM_001550.4(IFRD1):c.216T>C (p.Asp72=)	IFRD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 1284337	NM_001550.4(IFRD1):c.568-12T>A	IFRD1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 713158	NM_001550.4(IFRD1):c.619-5A>G	IFRD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 218480	NM_001550.4(IFRD1):c.634C>G (p.Leu212Val)	IFRD1 (L212V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1284350	NM_001550.4(IFRD1):c.828T>G (p.Ser276=)	IFRD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 1284314	NM_001550.4(IFRD1):c.985A>G (p.Lys329Glu)	IFRD1 (K279E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1284380	NM_001550.4(IFRD1):c.1047G>A (p.Arg349=)	IFRD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 1284599	NM_001550.4(IFRD1):c.1242G>A (p.Thr414=)	IFRD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign