Related gene-specific medical variations for Gene (Select 6777) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362739	NM_012448.4(STAT5B):c.182T>C (p.Leu61Pro)	STAT5B (L61P)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 3243052	NC_000017.10:g.(?_40353756)_(40384145_?)dup	STAT5B	Duplication	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 3065120	NM_012448.4(STAT5B):c.670C>G (p.Gln224Glu)	STAT5B (Q224E)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1184347	NM_012448.4(STAT5B):c.-11+7921A>G	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1184346	NM_012448.4(STAT5B):c.286-232C>T	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1184345	NM_012448.4(STAT5B):c.1208T>G (p.Met403Arg)	STAT5B (M403R)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance

ClinVar