C4310696[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576569	NM_138927.4(SON):c.1075C>T (p.Gln359Ter)	SON (Q359*)	Single nucleotide variant (nonsense +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 976349	NM_138927.4(SON):c.2191A>G (p.Met731Val)	SON (M731V)	Single nucleotide variant (missense variant +2 more)	ZTTK syndrome +1 more	GUncertain significance
Select item 423520	NM_138927.4(SON):c.3334C>T (p.Arg1112Ter)	SON (R1112*)	Single nucleotide variant (nonsense +2 more)	ZTTK syndrome +2 more	GPathogenic
Select item 1285461	NM_138927.4(SON):c.3617_3618del (p.Glu1206fs)	SON (E1206fs)	Microsatellite (frameshift variant +2 more)	ZTTK syndrome	GPathogenic
Select item 252929	NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	SON (V1918fs)	Deletion (frameshift variant +2 more)	Failure to thrive +5 more	GPathogenic/Likely pathogenic
Select item 1285448	NM_032195.2:c.(?_-55)_1405del	SON	Deletion	ZTTK syndrome	GLikely pathogenic

ClinVar