ClinVar for MedGen (Select 1723138) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585113	NM_012448.4(STAT5B):c.805G>A (p.Glu269Lys)	STAT5B (E269K)	Single nucleotide variant (missense variant)	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	GUncertain significance
Select item 2575224	NM_012448.4(STAT5B):c.2171C>T (p.Thr724Met)	STAT5B (T724M)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more	GUncertain significance
Select item 2501759	NM_012448.4(STAT5B):c.863A>T (p.Gln288Leu)	STAT5B (Q288L)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more	GUncertain significance
Select item 2446384	NM_012448.4(STAT5B):c.1896G>T (p.Lys632Asn)	STAT5B (K632N)	Single nucleotide variant (missense variant)	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	GLikely pathogenic
Select item 2444309	NM_012448.4(STAT5B):c.1012C>T (p.Pro338Ser)	STAT5B (P338S)	Single nucleotide variant (missense variant)	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	GUncertain significance
Select item 1710252	NM_012448.4(STAT5B):c.1570G>T (p.Gly524Cys)	STAT5B (G524C)	Single nucleotide variant (missense variant)	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	GUncertain significance
Select item 1328004	NM_012448.4(STAT5B):c.375+17G>A	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more	GBenign
Select item 1039656	NM_012448.4(STAT5B):c.638C>G (p.Ala213Gly)	STAT5B (A213G)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more	GUncertain significance
Select item 1037184	NM_012448.4(STAT5B):c.2359T>C (p.Ser787Pro)	STAT5B (S787P)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more	GUncertain significance
Select item 992531	NM_012448.4(STAT5B):c.2353G>A (p.Ala785Thr)	STAT5B (A785T)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more	GUncertain significance
Select item 955195	NM_012448.4(STAT5B):c.1666T>A (p.Ser556Thr)	STAT5B (S556T)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more	GUncertain significance
Select item 828010	NM_012448.4(STAT5B):c.550+7C>T	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more	GUncertain significance
Select item 578442	NM_012448.4(STAT5B):c.773G>A (p.Arg258Gln)	STAT5B (R258Q)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +2 more	GUncertain significance
Select item 534583	NM_012448.4(STAT5B):c.551-5T>C	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 522611	NM_012448.4(STAT5B):c.530A>C (p.Gln177Pro)	STAT5B (Q177P)	Single nucleotide variant (missense variant)	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant +1 more	GPathogenic
Select item 517661	NM_012448.4(STAT5B):c.1433C>T (p.Ala478Val)	STAT5B (A478V)	Single nucleotide variant (missense variant)	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant +1 more	GPathogenic
Select item 492931	NM_012448.4(STAT5B):c.1421A>G (p.Gln474Arg)	STAT5B (Q474R)	Single nucleotide variant (missense variant)	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant +1 more	GPathogenic
Select item 199128	NM_012448.4(STAT5B):c.993G>A (p.Thr331=)	STAT5B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 194861	NM_012448.4(STAT5B):c.2237+15T>C	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +3 more	GBenign/Likely benign