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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 151593	GRCh38/hg38 6q27(chr6:165631374-166361022)x3	LINC00473, LINC00602 +25 more	Copy number gain	See cases	GUncertain significance
Select item 151592	GRCh38/hg38 6q27(chr6:165631374-166405780)x3	LINC00473, LINC00602 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1241738	NM_001366285.2(TBXT):c.1179G>A (p.Ala393=)	TBXT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 450603	NM_001366285.2(TBXT):c.1102G>T (p.Val368Leu)	TBXT (V367L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488957	NM_001366285.2(TBXT):c.571C>T (p.Gln191Ter)	TBXT (Q191*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1242832	NM_001366285.2(TBXT):c.530G>A (p.Gly177Asp)	TBXT (G177D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1302242	NM_001366285.2(TBXT):c.363C>T (p.Ser121=)	TBXT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 253576	GRCh37/hg19 6q27(chr6:165443824-170892302)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic

ClinVar