"GeneDx"[submitter] AND "LOC126862047"[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	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 57812	GRCh38/hg38 14q32.2(chr14:96920270-100178956)x1	BCL11B, CCDC85C +81 more	Copy number loss	See cases	GPathogenic
Select item 1700359	NM_004434.3(EML1):c.2255A>C (p.Lys752Thr)	EML1, LOC126862047 (K708T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245098	NM_004434.3(EML1):c.2322+93C>T	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229588	NM_004434.3(EML1):c.2323-131T>A	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar