"GeneDx"[submitter] AND "TRA2B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 2582209	NM_004593.3(TRA2B):c.797C>T (p.Ser266Phe)	TRA2B (S166F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365932	NM_004593.3(TRA2B):c.708_709dup (p.Ser237fs)	TRA2B (S137fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2412961	NM_004593.3(TRA2B):c.602C>T (p.Thr201Met)	TRA2B (T101M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582049	NM_004593.3(TRA2B):c.281del (p.His94fs)	TRA2B (H94fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 3359950	NM_004593.3(TRA2B):c.-11_12del (p.Met1fs)	TRA2B (M1fs)	Deletion (5 prime UTR variant +2 more)	not provided	GUncertain significance

ClinVar