"GeneDx"[submitter] AND "IK"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 1205148	NC_000005.10:g.140647863C>T	IK, MIR3655 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1190646	NC_000005.10:g.140647898A>T	IK, MIR3655 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1278866	NC_000005.10:g.140648008GT[21]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1237583	NC_000005.10:g.140648008GT[20]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1258536	NC_000005.10:g.140648008GT[15]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1194344	NC_000005.10:g.140648008GT[18]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1179860	NC_000005.10:g.140648038_140648053del	IK, NDUFA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1196823	NC_000005.10:g.140648040_140648053del	IK, NDUFA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1246468	NC_000005.10:g.140648042_140648053del	IK, NDUFA2	Deletion (intron variant)	not provided	GBenign
Select item 1226911	NC_000005.10:g.140648044_140648053del	IK, NDUFA2	Deletion (intron variant)	not provided	GBenign
Select item 1218119	NC_000005.10:g.140648046ATGT[1]	IK, NDUFA2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1191887	NC_000005.10:g.140648046_140648047del	IK, NDUFA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1276546	NC_000005.10:g.140648046A>G	IK, NDUFA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196588	NC_000005.10:g.140648050A>G	IK, NDUFA2	Single nucleotide variant (intron variant)	not provided	GLikely benign