"GeneDx"[submitter] AND "LOC126862021"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 3363924	NM_006888.6(CALM1):c.382G>C (p.Glu128Gln)	CALM1, LOC126862021 (E128Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418107	NM_006888.6(CALM1):c.419A>T (p.Glu140Val)	CALM1, LOC126862021 (E140V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 423014	NM_006888.6(CALM1):c.421+7_421+10del	CALM1, LOC126862021	Deletion (intron variant)	not specified +2 more	GLikely benign
Select item 515960	NM_006888.6(CALM1):c.422-16dup	CALM1, LOC126862021	Duplication (intron variant)	not specified +2 more	GLikely benign
Select item 1307870	NM_006888.6(CALM1):c.422-6T>G	CALM1, LOC126862021	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 426161	NM_006888.6(CALM1):c.424T>C (p.Phe142Leu)	CALM1, LOC126862021 (F142L +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +2 more	GPathogenic

ClinVar