C5561975[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502359	NM_032217.5(ANKRD17):c.7799A>G (p.Asn2600Ser)	ANKRD17 (N2349S +3 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance
Select item 1325865	NM_032217.5(ANKRD17):c.5360_5363del (p.Gln1787fs)	ANKRD17 (Q1536fs +3 more)	Deletion (frameshift variant)	Chopra-Amiel-Gordon syndrome	GPathogenic
Select item 1697300	NM_032217.5(ANKRD17):c.4074G>A (p.Trp1358Ter)	ANKRD17 (W1107* +3 more)	Single nucleotide variant (nonsense)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 976319	NM_032217.5(ANKRD17):c.3751_3754del (p.Asn1251fs)	ANKRD17 (N1000fs +3 more)	Deletion (frameshift variant)	Chopra-Amiel-Gordon syndrome	GPathogenic
Select item 2578433	NM_032217.5(ANKRD17):c.2590_2591del (p.Lys864fs)	ANKRD17 (K751fs +1 more)	Deletion (frameshift variant +1 more)	Chopra-Amiel-Gordon syndrome	GLikely pathogenic
Select item 2691858	NM_032217.5(ANKRD17):c.2110G>T (p.Ala704Ser)	ANKRD17 (A591S +1 more)	Single nucleotide variant (missense variant)	Chopra-Amiel-Gordon syndrome	GUncertain significance

ClinVar