"GeneDx"[submitter] AND "EXOC3L4"[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 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 1279821	NM_001077594.2(EXOC3L4):c.687C>G (p.Pro229=)	EXOC3L4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266695	NM_001077594.2(EXOC3L4):c.889G>A (p.Val297Met)	EXOC3L4 (V297M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1236643	NM_001077594.2(EXOC3L4):c.1126G>T (p.Ala376Ser)	EXOC3L4 (A376S)	Single nucleotide variant (missense variant)	not provided	GBenign

ClinVar