"SIB Swiss Institute of Bioinformatics"[submitter] AND "ANKRD17"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342987	NM_032217.5(ANKRD17):c.7300C>G (p.Arg2434Gly)	ANKRD17 (R2183G +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1342983	NM_032217.5(ANKRD17):c.5638T>C (p.Ser1880Pro)	ANKRD17 (S1629P +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1342986	NM_032217.5(ANKRD17):c.3557C>G (p.Pro1186Arg)	ANKRD17 (P1073R +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1342981	NM_032217.5(ANKRD17):c.3359T>G (p.Leu1120Arg)	ANKRD17 (L1007R +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1342985	NM_032217.5(ANKRD17):c.2147T>G (p.Leu716Arg)	ANKRD17 (L603R +1 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1342982	NM_032217.5(ANKRD17):c.1556T>C (p.Leu519Pro)	ANKRD17 (L406P +1 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 1342984	NM_032217.5(ANKRD17):c.833G>T (p.Gly278Val)	ANKRD17 (G165V +1 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome +1 more	GConflicting classifications of pathogenicity

ClinVar