"Victorian Clinical Genetics Services, Murdoch Childrens Research Inst - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870395	NM_001002295.2(GATA3):c.431dup (p.His145fs)	GATA3 (H145fs)	Duplication (frameshift variant)	GATA3-related condition +2 more	GPathogenic
Select item 975096	NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser)	GATA3 (C263S +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 1699381	NM_001002295.2(GATA3):c.896G>T (p.Arg299Leu)	GATA3 (R298L +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1805229	NM_001002295.2(GATA3):c.924+1G>A	GATA3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 869468	NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser)	GATA3 (C320S +1 more)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 16626	NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)	GATA3 (R367* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar