ClinVar for Gene (Select 400618) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284079	NC_000017.11:g.72120684CA[10]	LOC108021846, SOX9 +1 more	Microsatellite	not provided	GBenign
Select item 1264490	NC_000017.11:g.72120684_72120685insGCAC	LOC108021846, SOX9 +1 more	Insertion	not provided	GBenign
Select item 1229218	NC_000017.11:g.72120684CA[12]	LOC108021846, SOX9 +1 more	Microsatellite	not provided	GBenign
Select item 1199135	NC_000017.11:g.72120684_72120685insGCACAC	LOC108021846, SOX9 +1 more	Insertion	not provided	GLikely benign
Select item 1196892	NC_000017.11:g.72120679GC[5]	LOC108021846, SOX9 +1 more	Microsatellite	not provided	GLikely benign
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic

ClinVar