"Genetic Services Laboratory, University of Chicago"[submitter] AND "G - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1336060	NM_001377304.1(GFI1B):c.148T>C (p.Phe50Leu)	GFI1B (F50L)	Single nucleotide variant (missense variant)	GFI1B-related disorder +1 more	GBenign/Likely benign
Select item 790269	NM_001377304.1(GFI1B):c.238+7C>T	GFI1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1336041	NM_001377304.1(GFI1B):c.239-9T>A	GFI1B	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1337338	NM_001377304.1(GFI1B):c.278C>T (p.Ser93Phe)	GFI1B (S93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788675	NM_001377304.1(GFI1B):c.576C>T (p.Phe192=)	GFI1B	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 627337	NM_001377304.1(GFI1B):c.581G>A (p.Cys194Tyr)	GFI1B (C194Y)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia +1 more	GUncertain significance
Select item 710734	NM_001377304.1(GFI1B):c.624G>A (p.Glu208=)	GFI1B	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1337036	NM_001377304.1(GFI1B):c.648+4G>T	GFI1B	Single nucleotide variant (intron variant)	not specified	GUncertain significance

ClinVar