"GeneDx"[submitter] AND "STAT5B"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1244365	NM_012448.4(STAT5B):c.*184TG[14]	STAT5B	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 3342958	NM_012448.4(STAT5B):c.2093G>T (p.Gly698Val)	STAT5B (G698V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1266113	NM_012448.4(STAT5B):c.2077+33TG[18]	STAT5B	Microsatellite (intron variant)	not provided	GBenign
Select item 657518	NM_012448.4(STAT5B):c.1924A>C (p.Asn642His)	STAT5B (N642H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1289868	NM_012448.4(STAT5B):c.1473+269T>G	STAT5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 645970	NM_012448.4(STAT5B):c.1337C>T (p.Ser446Phe)	STAT5B (S446F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1320465	NM_012448.4(STAT5B):c.1268G>A (p.Arg423Gln)	STAT5B (R423Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273029	NM_012448.4(STAT5B):c.1170-241dup	STAT5B	Duplication (intron variant)	not provided	GBenign
Select item 579749	NM_012448.4(STAT5B):c.1102dup (p.Gln368fs)	STAT5B (Q368fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 199127	NM_012448.4(STAT5B):c.1101C>A (p.Pro367=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +2 more	GBenign
Select item 3367881	NM_012448.4(STAT5B):c.823C>T (p.Leu275=)	STAT5B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1220855	NM_012448.4(STAT5B):c.376-307C>A	STAT5B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226745	NM_012448.4(STAT5B):c.285+150del	STAT5B	Deletion (intron variant)	not provided	GBenign
Select item 3369835	NM_012448.4(STAT5B):c.220C>A (p.His74Asn)	STAT5B (H74N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252156	NM_012448.4(STAT5B):c.-10-124T>C	STAT5B	Single nucleotide variant (intron variant)	not provided	GBenign