STAT5A[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 2204346	NM_001288718.2(STAT5A):c.27G>C (p.Gln9His)	STAT5A (Q9H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171122	NM_001288718.2(STAT5A):c.133G>T (p.Ala45Ser)	STAT5A (A45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511857	NM_001288718.2(STAT5A):c.341A>G (p.Tyr114Cys)	STAT5A (Y114C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731253	NM_001288718.2(STAT5A):c.465G>A (p.Thr155=)	STAT5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2455505	NM_001288718.2(STAT5A):c.560C>G (p.Ala187Gly)	STAT5A (A187G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455504	NM_001288718.2(STAT5A):c.563A>C (p.Gln188Pro)	STAT5A (Q158P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378436	NM_001288718.2(STAT5A):c.581C>T (p.Pro194Leu)	STAT5A (P164L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785569	NM_001288718.2(STAT5A):c.626T>C (p.Val209Ala)	STAT5A (V179A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3323187	NM_001288718.2(STAT5A):c.745G>A (p.Asp249Asn)	STAT5A (D219N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383063	NM_001288718.2(STAT5A):c.881G>A (p.Arg294His)	STAT5A (R264H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171128	NM_001288718.2(STAT5A):c.885G>C (p.Arg295Ser)	STAT5A (R295S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323185	NM_001288718.2(STAT5A):c.895C>T (p.Leu299Phe)	STAT5A (L299F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403778	NM_001288718.2(STAT5A):c.944A>C (p.Glu315Ala)	STAT5A (E285A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171119	NM_001288718.2(STAT5A):c.1057C>T (p.Arg353Cys)	STAT5A (R323C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281695	NM_001288718.2(STAT5A):c.1072G>A (p.Gly358Arg)	STAT5A (G358R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171120	NM_001288718.2(STAT5A):c.1100C>G (p.Pro367Arg)	STAT5A (P367R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264571	NM_001288718.2(STAT5A):c.1255A>G (p.Met419Val)	STAT5A (M419V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334150	NM_001288718.2(STAT5A):c.1277G>A (p.Arg426His)	STAT5A (R426H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 691386	NM_001288718.2(STAT5A):c.1279G>A (p.Ala427Thr)	STAT5A (A397T +1 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 3171123	NM_001288718.2(STAT5A):c.1363C>T (p.Leu455Phe)	STAT5A (L425F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323186	NM_001288718.2(STAT5A):c.1472C>G (p.Pro491Arg)	STAT5A (P461R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340694	NM_001288718.2(STAT5A):c.1528G>A (p.Ala510Thr)	STAT5A (A479T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171124	NM_001288718.2(STAT5A):c.1529C>T (p.Ala510Val)	STAT5A (A480V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312958	NM_001288718.2(STAT5A):c.1686C>G (p.Asn562Lys)	STAT5A (N532K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340242	NM_001288718.2(STAT5A):c.1734G>A (p.Met578Ile)	STAT5A (M548I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735034	NM_001288718.2(STAT5A):c.1794G>C (p.Val598=)	STAT5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2540892	NM_001288718.2(STAT5A):c.2060T>G (p.Leu687Arg)	STAT5A (L657R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768884	NM_001288718.2(STAT5A):c.2063-4A>G	STAT5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2257095	NM_001288718.2(STAT5A):c.2152G>A (p.Ala718Thr)	STAT5A (A687T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789092	NM_001288718.2(STAT5A):c.2229C>T (p.Asp743=)	STAT5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785570	NM_001288718.2(STAT5A):c.2238C>T (p.Leu746=)	STAT5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3171125	NM_001288718.2(STAT5A):c.2257G>A (p.Asp753Asn)	STAT5A (D722N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171126	NM_001288718.2(STAT5A):c.2314A>G (p.Met772Val)	STAT5A (M742V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399261	NM_001288718.2(STAT5A):c.2344C>T (p.Pro782Ser)	STAT5A (P751S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171127	NM_001288718.2(STAT5A):c.2366C>T (p.Ala789Val)	STAT5A (A758V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2425817	NC_000017.10:g.(?_40376777)_(40575115_?)dup	CAVIN1, STAT3 +2 more	Duplication	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +2 more	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 42