"GeneDx"[submitter] AND "TBX19"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 293456	NM_005149.3(TBX19):c.204-3T>C	TBX19	Single nucleotide variant (intron variant)	TBX19-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1314595	NM_005149.3(TBX19):c.389A>G (p.Asn130Ser)	TBX19 (N130S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 293458	NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)	TBX19 (R179*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 561125	NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter)	TBX19 (Y209*)	Single nucleotide variant (nonsense)	Congenital isolated adrenocorticotropic hormone deficiency +1 more	GPathogenic
Select item 5443	NM_005149.3(TBX19):c.782del (p.Asn261fs)	TBX19 (N261fs)	Deletion (frameshift variant)	TBX19-related condition +2 more	GPathogenic

ClinVar