"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500890	NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)	TMPRSS6 (M615fs)	Insertion (frameshift variant)	Iron-refractory iron deficiency anemia	GUncertain significance
Select item 1404	NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn)	TMPRSS6 (D512N)	Single nucleotide variant (missense variant)	Iron-refractory iron deficiency anemia +1 more	GLikely pathogenic
Select item 1406	NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs)	TMPRSS6 (E461fs +1 more)	Deletion (frameshift variant)	Iron-refractory iron deficiency anemia	GLikely pathogenic
Select item 2412690	NM_001374504.1(TMPRSS6):c.1055C>A (p.Ser352Ter)	TMPRSS6 (S352*)	Single nucleotide variant (nonsense)	Iron-refractory iron deficiency anemia	GPathogenic
Select item 1405	NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter)	TMPRSS6 (Y346*)	Single nucleotide variant (nonsense)	TMPRSS6-related condition +2 more	GLikely pathogenic
Select item 2500843	NM_001374504.1(TMPRSS6):c.836+1G>A	TMPRSS6	Single nucleotide variant (splice donor variant)	Iron-refractory iron deficiency anemia	GUncertain significance
Select item 2579193	GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1	IL2RB, LOC130067341 +1 more	Copy number loss	Iron-refractory iron deficiency anemia	GPathogenic

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