"GeneDx"[submitter] AND "LOC117125591"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 2505683	NM_006563.5(KLF1):c.978G>A (p.Leu326=)	KLF1, LOC117125591	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1707979	NM_006563.5(KLF1):c.952T>C (p.Trp318Arg)	KLF1, LOC117125591 (W318R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252231	NM_006563.5(KLF1):c.900_903dup (p.Thr302fs)	KLF1, LOC117125591 (T302fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic

ClinVar