ClinVar for MedGen (Select 713903) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506395	NM_145870.3(GSTZ1):c.128del (p.Gly43fs)	GSTZ1 (G43fs +1 more)	Deletion (5 prime UTR variant +1 more)	Maleylacetoacetate isomerase deficiency	GLikely pathogenic
Select item 2444067	NM_145870.3(GSTZ1):c.216+1G>A	GSTZ1	Single nucleotide variant (splice donor variant)	Maleylacetoacetate isomerase deficiency	GPathogenic
Select item 807427	NM_145870.3(GSTZ1):c.136-2A>G	GSTZ1	Single nucleotide variant (splice acceptor variant)	Maleylacetoacetate isomerase deficiency	GPathogenic
Select item 431044	NM_145870.3(GSTZ1):c.295G>A (p.Val99Met)	GSTZ1 (V99M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 431043	NM_145870.3(GSTZ1):c.68-12G>A	GSTZ1	Single nucleotide variant (intron variant)	Maleylacetoacetate isomerase deficiency	GAffects
Select item 431042	NM_145870.3(GSTZ1):c.259C>T (p.Arg87Ter)	GSTZ1 (R87* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	Gother
Select item 431041	NM_145870.3(GSTZ1):c.449C>T (p.Ala150Val)	GSTZ1, LOC126862005 (A150V +3 more)	Single nucleotide variant (missense variant)	Maleylacetoacetate isomerase deficiency	GAffects

ClinVar