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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 1277522	NM_001388419.1(KALRN):c.1215C>T (p.Phe405=)	KALRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1173045	NM_001388419.1(KALRN):c.5102G>T (p.Gly1701Val)	KALRN (G1058V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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