ClinVar for Gene (Select 6777) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3171132	NM_012448.4(STAT5B):c.469G>T (p.Asp157Tyr)	STAT5B (D157Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171131	NM_012448.4(STAT5B):c.381C>G (p.Ser127Arg)	STAT5B (S127R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171130	NM_012448.4(STAT5B):c.361C>G (p.Arg121Gly)	STAT5B (R121G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171129	NM_012448.4(STAT5B):c.1696C>T (p.Arg566Trp)	STAT5B (R566W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067812	GRCh37/hg19 17q21.2(chr17:40371730-40371860)x1	STAT5B	Copy number loss	not provided	GLikely pathogenic
Select item 3067804	NM_012448.4(STAT5B):c.1474-2_1474delinsT	STAT5B	Indel (splice acceptor variant)	not provided	GLikely pathogenic
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 3063786	NM_012448.4(STAT5B):c.834-18C>T	STAT5B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 3061501	NM_012448.4(STAT5B):c.1430A>G (p.Asn477Ser)	STAT5B (N477S)	Single nucleotide variant (missense variant)	STAT5B-related disorder	GUncertain significance
Select item 3047294	NM_012448.4(STAT5B):c.1788G>A (p.Gly596=)	STAT5B	Single nucleotide variant (synonymous variant)	STAT5B-related disorder	GLikely benign
Select item 3032940	NM_012448.4(STAT5B):c.1305G>A (p.Val435=)	STAT5B	Single nucleotide variant (synonymous variant)	STAT5B-related disorder	GLikely benign
Select item 3021031	NM_012448.4(STAT5B):c.1407C>T (p.Ile469=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 3016723	NM_012448.4(STAT5B):c.2160C>T (p.Gly720=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 3012722	NM_012448.4(STAT5B):c.2208C>T (p.Pro736=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 3011453	NM_012448.4(STAT5B):c.228G>C (p.Val76=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 3002106	NM_012448.4(STAT5B):c.1681-15T>C	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 3000349	NM_012448.4(STAT5B):c.530A>G (p.Gln177Arg)	STAT5B (Q177R)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more	GUncertain significance
Select item 2999415	NM_012448.4(STAT5B):c.376-18C>T	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2998404	NM_012448.4(STAT5B):c.436C>G (p.Gln146Glu)	STAT5B (Q146E)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more	GUncertain significance
Select item 2995023	NM_012448.4(STAT5B):c.2154C>G (p.Ala718=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2981035	NM_012448.4(STAT5B):c.2079T>G (p.Ala693=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2978655	NM_012448.4(STAT5B):c.550+14G>A	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2973961	NM_012448.4(STAT5B):c.1690C>T (p.Pro564Ser)	STAT5B (P564S)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2973840	NM_012448.4(STAT5B):c.1169+16C>T	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2973839	NM_012448.4(STAT5B):c.2224A>G (p.Met742Val)	STAT5B (M742V)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2969176	NM_012448.4(STAT5B):c.2172G>C (p.Thr724=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2961682	NM_012448.4(STAT5B):c.59C>A (p.Ala20Glu)	STAT5B (A20E)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2957876	NM_012448.4(STAT5B):c.376-10A>G	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2955379	NM_012448.4(STAT5B):c.1681-2A>G	STAT5B	Single nucleotide variant (splice acceptor variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely pathogenic
Select item 2920203	NM_012448.4(STAT5B):c.1976G>A (p.Arg659His)	STAT5B (R659H)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2918657	NM_012448.4(STAT5B):c.1380+6G>A	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2918184	NM_012448.4(STAT5B):c.1381-17C>G	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2916190	NM_012448.4(STAT5B):c.1182C>T (p.Gly394=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2915203	NM_012448.4(STAT5B):c.1257+11A>C	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GBenign
Select item 2914718	NM_012448.4(STAT5B):c.1515A>G (p.Pro505=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2912432	NM_012448.4(STAT5B):c.155A>T (p.Gln52Leu)	STAT5B (Q52L)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2909086	NM_012448.4(STAT5B):c.1382C>T (p.Thr461Ile)	STAT5B (T461I)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2907801	NM_012448.4(STAT5B):c.2299C>T (p.Arg767Trp)	STAT5B (R767W)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2901008	NM_012448.4(STAT5B):c.135A>G (p.Ser45=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2890690	NM_012448.4(STAT5B):c.1098C>T (p.Pro366=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2887252	NM_012448.4(STAT5B):c.1502A>G (p.Lys501Arg)	STAT5B (K501R)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2883165	NM_012448.4(STAT5B):c.1728T>C (p.Gly576=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2882985	NM_012448.4(STAT5B):c.2166C>T (p.Ser722=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2882940	NM_012448.4(STAT5B):c.2056G>A (p.Val686Ile)	STAT5B (V686I)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2877809	NM_012448.4(STAT5B):c.2333A>G (p.Asp778Gly)	STAT5B (D778G)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2869679	NM_012448.4(STAT5B):c.376-10A>C	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2869095	NM_012448.4(STAT5B):c.1906C>T (p.Gln636Ter)	STAT5B (Q636*)	Single nucleotide variant (nonsense)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GPathogenic
Select item 2865224	NM_012448.4(STAT5B):c.379A>T (p.Ser127Cys)	STAT5B (S127C)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2863798	NM_012448.4(STAT5B):c.2157G>A (p.Gly719=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2862904	NM_012448.4(STAT5B):c.48T>G (p.His16Gln)	STAT5B (H16Q)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2855661	NM_012448.4(STAT5B):c.286-8T>A	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2852676	NM_012448.4(STAT5B):c.303C>A (p.Cys101Ter)	STAT5B (C101*)	Single nucleotide variant (nonsense)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GPathogenic
Select item 2849797	NM_012448.4(STAT5B):c.2243A>T (p.Asp748Val)	STAT5B (D748V)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2840836	NM_012448.4(STAT5B):c.1213_1229del (p.Tyr405fs)	STAT5B (Y405fs)	Deletion (frameshift variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GPathogenic
Select item 2840802	NM_012448.4(STAT5B):c.1907-15T>C	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2840607	NM_012448.4(STAT5B):c.1258-8_1258-6del	STAT5B	Microsatellite (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2836849	NM_012448.4(STAT5B):c.2130-5T>A	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2832933	NM_012448.4(STAT5B):c.112A>C (p.Ile38Leu)	STAT5B (I38L)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2829274	NM_012448.4(STAT5B):c.1302G>A (p.Ser434=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2826149	NM_012448.4(STAT5B):c.192G>C (p.Leu64=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2825830	NM_012448.4(STAT5B):c.285+6_285+11del	STAT5B	Deletion (splice donor variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2824201	NM_012448.4(STAT5B):c.20C>T (p.Ala7Val)	STAT5B (A7V)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2818797	NM_012448.4(STAT5B):c.2147C>T (p.Ala716Val)	STAT5B (A716V)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2818297	NM_012448.4(STAT5B):c.1851G>A (p.Leu617=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2817378	NM_012448.4(STAT5B):c.1326C>T (p.Ile442=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2815417	NM_012448.4(STAT5B):c.1474-9C>A	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2810290	NM_012448.4(STAT5B):c.1248C>T (p.Phe416=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2808844	NM_012448.4(STAT5B):c.2340G>A (p.Gln780=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2800884	NM_012448.4(STAT5B):c.273C>T (p.Ala91=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2797608	NM_012448.4(STAT5B):c.1605G>T (p.Gln535His)	STAT5B (Q535H)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2796806	NM_012448.4(STAT5B):c.1257+19G>A	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2786716	NM_012448.4(STAT5B):c.450G>A (p.Glu150=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2780844	NM_012448.4(STAT5B):c.1284C>T (p.Asp428=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2780684	NM_012448.4(STAT5B):c.2262T>C (p.Asp754=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2771049	NM_012448.4(STAT5B):c.1449C>G (p.Leu483=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2770337	NM_012448.4(STAT5B):c.2209C>T (p.Gln737Ter)	STAT5B (Q737*)	Single nucleotide variant (nonsense)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2758337	NM_012448.4(STAT5B):c.443T>C (p.Phe148Ser)	STAT5B (F148S)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2755391	NM_012448.4(STAT5B):c.2159G>T (p.Gly720Val)	STAT5B (G720V)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2750520	NM_012448.4(STAT5B):c.1473+7G>C	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2748850	NM_012448.4(STAT5B):c.1095C>G (p.Asn365Lys)	STAT5B (N365K)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2747080	NM_012448.4(STAT5B):c.448G>A (p.Glu150Lys)	STAT5B (E150K)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2747073	NM_012448.4(STAT5B):c.46C>T (p.His16Tyr)	STAT5B (H16Y)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2744045	NM_012448.4(STAT5B):c.2203T>C (p.Cys735Arg)	STAT5B (C735R)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2739237	NM_012448.4(STAT5B):c.89_90dup (p.Arg31fs)	STAT5B (R31fs)	Duplication (frameshift variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GPathogenic
Select item 2733630	NM_012448.4(STAT5B):c.376-17C>T	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2733629	NM_012448.4(STAT5B):c.525G>A (p.Gln175=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2729039	NM_012448.4(STAT5B):c.424C>T (p.Leu142Phe)	STAT5B (L142F)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2728866	NM_012448.4(STAT5B):c.1656T>G (p.Ser552=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2728331	NM_012448.4(STAT5B):c.2078-9C>T	STAT5B	Single nucleotide variant (intron variant)	STAT5B-related disorder +1 more	GBenign/Likely benign
Select item 2725439	NM_012448.4(STAT5B):c.1602G>A (p.Ala534=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2721269	NM_012448.4(STAT5B):c.1095C>T (p.Asn365=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2720716	NM_012448.4(STAT5B):c.1681-4C>A	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2715561	NM_012448.4(STAT5B):c.231G>A (p.Gly77=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2708765	NM_012448.4(STAT5B):c.128+15A>T	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2706980	NM_012448.4(STAT5B):c.81C>T (p.Pro27=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2706752	NM_012448.4(STAT5B):c.417G>A (p.Gln139=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2706049	NM_012448.4(STAT5B):c.1263G>A (p.Leu421=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2704588	NM_012448.4(STAT5B):c.2085T>C (p.Ala695=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign

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