ClinVar for MedGen (Select 1782083) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257725	NM_001970.5(EIF5A):c.415_416delinsAT (p.Ser139Ile)	EIF5A (S169I +1 more)	Indel (missense variant)	Faundes-Banka syndrome	GLikely pathogenic
Select item 3242525	Single allele	PHF23, YBX2 +13 more	Deletion	Faundes-Banka syndrome	GPathogenic
Select item 2691871	NM_001970.5(EIF5A):c.37G>A (p.Gly13Arg)	EIF5A (G13R +1 more)	Single nucleotide variant (missense variant)	Faundes-Banka syndrome	GUncertain significance
Select item 2636832	NM_001143760.1(EIF5A):c.69+1G>A	EIF5A	Single nucleotide variant (splice donor variant +1 more)	Faundes-Banka syndrome +1 more	GUncertain significance
Select item 2413190	NM_001970.5(EIF5A):c.191_192del (p.Phe64fs)	EIF5A (F64fs +1 more)	Deletion (frameshift variant)	Faundes-Banka syndrome	GLikely pathogenic
Select item 1164081	NM_001970.5(EIF5A):c.324dup (p.Arg109fs)	EIF5A (R109fs +1 more)	Duplication (frameshift variant)	Faundes-Banka syndrome	GPathogenic
Select item 1164080	NM_001970.5(EIF5A):c.325C>T (p.Arg109Ter)	EIF5A (R109* +1 more)	Single nucleotide variant (nonsense)	Faundes-Banka syndrome	GPathogenic
Select item 1164079	NM_001970.5(EIF5A):c.325C>G (p.Arg109Gly)	EIF5A (R109G +1 more)	Single nucleotide variant (missense variant)	Faundes-Banka syndrome	GPathogenic
Select item 1164078	NM_001970.5(EIF5A):c.143C>A (p.Thr48Asn)	EIF5A (T48N +1 more)	Single nucleotide variant (missense variant)	Faundes-Banka syndrome	GPathogenic

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