"Laboratory of Medical Genetics, National & Kapodistrian University of - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708080	NM_001110556.2(FLNA):c.5488G>C (p.Val1830Leu)	FLNA (V1822L +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type I	GUncertain significance
Select item 11758	NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr)	FLNA (A1188T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1708104	NM_001110556.2(FLNA):c.3364T>G (p.Cys1122Gly)	FLNA (C1122G)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type I	GUncertain significance
Select item 213516	NM_001110556.2(FLNA):c.1267C>T (p.Pro423Ser)	FLNA (P423S)	Single nucleotide variant (missense variant)	Frontometaphyseal dysplasia +3 more	GUncertain significance
Select item 3256578	NM_001110556.2(FLNA):c.1A>C (p.Met1Leu)	FLNA (M1L)	Single nucleotide variant (missense variant +1 more)	Melnick-Needles syndrome	GLikely pathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	EOLA1, EOLA2 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic

ClinVar