"GeneDx"[submitter] AND "KIZ"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 1399389	NM_018474.6(KIZ):c.3G>A (p.Met1Ile)	KIZ, LOC130065507 (E28K +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 2506714	NM_018474.6(KIZ):c.56G>C (p.Arg19Thr)	KIZ, LOC130065507 (E45D +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1186265	NM_018474.6(KIZ):c.116del (p.Lys39fs)	KIZ (K39fs)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 128241	NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)	KIZ, LOC130065509 (R76*)	Single nucleotide variant (nonsense +2 more)	not provided +3 more	GPathogenic
Select item 1165117	NM_018474.6(KIZ):c.316-12C>G	KIZ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

ClinVar