Related gene-specific medical variations for Gene (Select 9095) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361868	NM_005149.3(TBX19):c.146C>T (p.Pro49Leu)	TBX19 (P49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233371	NM_005149.3(TBX19):c.604-1G>C	TBX19	Single nucleotide variant (splice acceptor variant)	Congenital isolated adrenocorticotropic hormone deficiency	GLikely pathogenic
Select item 3065757	NM_005149.3(TBX19):c.646_647delinsGC (p.Phe216Ala)	TBX19 (F216A)	Indel (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GUncertain significance
Select item 3065395	NM_005149.3(TBX19):c.617A>G (p.Lys206Arg)	TBX19 (K206R)	Single nucleotide variant (missense variant)	Congenital isolated adrenocorticotropic hormone deficiency	GLikely pathogenic
Select item 1676659	NM_005149.3(TBX19):c.688G>T (p.Glu230Ter)	TBX19 (E230*)	Single nucleotide variant	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic
Select item 633477	NM_005149.3(TBX19):c.210G>T (p.Met70Ile)	TBX19 (M70I)	Single nucleotide variant (missense variant)	Adrenal insufficiency	GUncertain significance
Select item 495297	K146R	TBX19	Variation	Congenital isolated adrenocorticotropic hormone deficiency	GPathogenic

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