ClinVar for MedGen (Select 895975) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029603	NM_016417.3(GLRX5):c.322A>G (p.Thr108Ala)	GLRX5 (T108A)	Single nucleotide variant (missense variant)	Sideroblastic anemia 3	GUncertain significance
Select item 1029602	NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser)	GLRX5 (N105S)	Single nucleotide variant (missense variant)	Sideroblastic anemia 3 +1 more	GUncertain significance
Select item 915892	NM_016417.3(GLRX5):c.383T>A (p.Met128Lys)	GLRX5 (M128K)	Single nucleotide variant (missense variant)	Sideroblastic anemia 3	GPathogenic
Select item 915891	NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr)	GLRX5 (C67Y)	Single nucleotide variant (missense variant)	Sideroblastic anemia 3	GPathogenic
Select item 224511	NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser)	GLRX5 (L148S)	Single nucleotide variant (missense variant)	Sideroblastic anemia 3	GPathogenic
Select item 224510	NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln)	GLRX5 (K101Q)	Single nucleotide variant (missense variant)	Sideroblastic anemia 3	GPathogenic
Select item 1606	NM_016417.3(GLRX5):c.294A>G (p.Gln98=)	GLRX5	Single nucleotide variant (synonymous variant)	Sideroblastic anemia 3	GPathogenic

ClinVar