"OMIM"[submitter] AND "GBF1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 468353	NM_005029.4(PITX3):c.640_656dup (p.Gly220fs)	GBF1, PITX3 (G220fs)	Duplication (frameshift variant)	Cataract 11 multiple types +1 more	GPathogenic
Select item 6939	NM_005029.4(PITX3):c.650del (p.Gly217fs)	PITX3, GBF1 (G217fs)	Deletion (frameshift variant)	Cataract 11, posterior polar +1 more	GPathogenic
Select item 6938	NM_005029.4(PITX3):c.38G>A (p.Ser13Asn)	GBF1, PITX3 (S13N)	Single nucleotide variant (missense variant)	Cataract 11 multiple types	GPathogenic
Select item 972907	NM_001377137.1(GBF1):c.2948G>A (p.Cys983Tyr)	GBF1 (C884Y +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Disease, axonal, type 2GG +1 more	GPathogenic/Likely pathogenic
Select item 975152	NM_001377137.1(GBF1):c.3413C>T (p.Ala1138Val)	GBF1 (A1039V +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Disease, axonal, type 2GG +1 more	GPathogenic/Likely pathogenic
Select item 973612	NM_001377137.1(GBF1):c.3528G>A (p.Trp1176Ter)	GBF1 (W1077* +3 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth Disease, axonal, type 2GG +1 more	GPathogenic/Likely pathogenic
Select item 972904	NM_001377137.1(GBF1):c.4385G>A (p.Arg1462Gln)	GBF1 (R1363Q +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Disease, axonal, type 2GG +1 more	GPathogenic/Likely pathogenic

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