6777[geneid] - ClinVar - NCBI

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	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 1244365	NM_012448.4(STAT5B):c.*184TG[14]	STAT5B	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1078757	NM_012448.4(STAT5B):c.2361G>A (p.Ser787=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
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 1059610	NM_012448.4(STAT5B):c.2358A>G (p.Gln786=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more	GLikely benign
Select item 2120221	NM_012448.4(STAT5B):c.2355A>C (p.Ala785=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
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 1119336	NM_012448.4(STAT5B):c.2352C>T (p.His784=)	STAT5B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 848018	NM_012448.4(STAT5B):c.2348C>T (p.Pro783Leu)	STAT5B (P783L)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 844084	NM_012448.4(STAT5B):c.2344A>C (p.Ile782Leu)	STAT5B (I782L)	Single nucleotide variant (missense 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 2079090	NM_012448.4(STAT5B):c.2334C>T (p.Asp778=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
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 1438090	NM_012448.4(STAT5B):c.2329A>G (p.Met777Val)	STAT5B (M777V)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1439450	NM_012448.4(STAT5B):c.2324G>A (p.Arg775Gln)	STAT5B (R775Q)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2697166	NM_012448.4(STAT5B):c.2316C>T (p.Leu772=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1900360	NM_012448.4(STAT5B):c.2314C>T (p.Leu772Phe)	STAT5B (L772F)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1975365	NM_012448.4(STAT5B):c.2310G>A (p.Glu770=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1350260	NM_012448.4(STAT5B):c.2303G>A (p.Arg768His)	STAT5B (R768H)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 2111390	NM_012448.4(STAT5B):c.2302C>T (p.Arg768Cys)	STAT5B (R768C)	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 1985248	NM_012448.4(STAT5B):c.2297C>T (p.Ala766Val)	STAT5B (A766V)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 998972	NM_012448.4(STAT5B):c.2293G>A (p.Val765Ile)	STAT5B (V765I)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 534579	NM_012448.4(STAT5B):c.2292C>T (p.Asp764=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1720483	NM_012448.4(STAT5B):c.2275C>G (p.Leu759Val)	STAT5B (L759V)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1017370	NM_012448.4(STAT5B):c.2272G>A (p.Asp758Asn)	STAT5B (D758N)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 797886	NM_012448.4(STAT5B):c.2271C>T (p.Phe757=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1988922	NM_012448.4(STAT5B):c.2265G>A (p.Gly755=)	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 951379	NM_012448.4(STAT5B):c.2260G>A (p.Asp754Asn)	STAT5B (D754N)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1106098	NM_012448.4(STAT5B):c.2259C>T (p.Thr753=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1719587	NM_012448.4(STAT5B):c.2248G>C (p.Val750Leu)	STAT5B (V750L)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
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 1063876	NM_012448.4(STAT5B):c.2242G>A (p.Asp748Asn)	STAT5B (D748N)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1493017	NM_012448.4(STAT5B):c.2238-19C>T	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1554526	NM_012448.4(STAT5B):c.2237+16G>T	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely 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
Select item 1478460	NM_012448.4(STAT5B):c.2234A>T (p.Gln745Leu)	STAT5B (Q745L)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1161848	NM_012448.4(STAT5B):c.2232A>G (p.Pro744=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2088641	NM_012448.4(STAT5B):c.2226G>A (p.Met742Ile)	STAT5B (M742I)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1044786	NM_012448.4(STAT5B):c.2225T>C (p.Met742Thr)	STAT5B (M742T)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
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 1678490	NM_012448.4(STAT5B):c.2221A>T (p.Asn741Tyr)	STAT5B (N741Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 842829	NM_012448.4(STAT5B):c.2215C>T (p.His739Tyr)	STAT5B (H739Y)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +1 more	GUncertain significance
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 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 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 1720085	NM_012448.4(STAT5B):c.2195C>A (p.Pro732Gln)	STAT5B (P732Q)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 808266	NM_012448.4(STAT5B):c.2186C>T (p.Ala729Val)	STAT5B (A729V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961422	NM_012448.4(STAT5B):c.2185G>A (p.Ala729Thr)	STAT5B (A729T)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 466224	NM_012448.4(STAT5B):c.2185G>T (p.Ala729Ser)	STAT5B (A729S)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1677013	NM_012448.4(STAT5B):c.2178G>A (p.Met726Ile)	STAT5B (M726I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 649575	NM_012448.4(STAT5B):c.2176A>G (p.Met726Val)	STAT5B (M726V)	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 2176687	NM_012448.4(STAT5B):c.2172G>A (p.Thr724=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
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 665889	NM_012448.4(STAT5B):c.2167G>A (p.Ala723Thr)	STAT5B (A723T)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
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 572813	NM_012448.4(STAT5B):c.2161G>A (p.Gly721Ser)	STAT5B (G721S)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive +2 more	GUncertain significance
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 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 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 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 1148432	NM_012448.4(STAT5B):c.2154C>A (p.Ala718=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1088873	NM_012448.4(STAT5B):c.2154C>T (p.Ala718=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1597343	NM_012448.4(STAT5B):c.2148A>T (p.Ala716=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
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 1669156	NM_012448.4(STAT5B):c.2142A>G (p.Ala714=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2570987	NM_012448.4(STAT5B):c.2135_2139dup (p.Ala714Ter)	STAT5B (A714*)	Duplication (nonsense)	not provided	GPathogenic
Select item 1561104	NM_012448.4(STAT5B):c.2139C>T (p.Asn713=)	STAT5B	Single nucleotide variant (synonymous 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 762865	NM_012448.4(STAT5B):c.2130-8T>A	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1567852	NM_012448.4(STAT5B):c.2130-10C>A	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1535268	NM_012448.4(STAT5B):c.2130-12T>C	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 2176183	NM_012448.4(STAT5B):c.2130-13C>T	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1419827	NM_012448.4(STAT5B):c.2129+16G>A	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1095031	NM_012448.4(STAT5B):c.2129+9C>T	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 798749	NM_012448.4(STAT5B):c.2129+8T>G	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1564684	NM_012448.4(STAT5B):c.2121G>A (p.Val707=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1079667	NM_012448.4(STAT5B):c.2118A>G (p.Gln706=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1593152	NM_012448.4(STAT5B):c.2115G>A (p.Lys705=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 657964	NM_012448.4(STAT5B):c.2098G>T (p.Val700Leu)	STAT5B (V700L)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 596573	NM_012448.4(STAT5B):c.2098G>A (p.Val700Met)	STAT5B (V700M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745847	NM_012448.4(STAT5B):c.2097C>T (p.Tyr699=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
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 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
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 2728331	NM_012448.4(STAT5B):c.2078-9C>T	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GBenign
Select item 1626526	NM_012448.4(STAT5B):c.2078-18A>G	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1266113	NM_012448.4(STAT5B):c.2077+33TG[18]	STAT5B	Microsatellite (intron variant)	not provided	GBenign
Select item 1674099	NM_012448.4(STAT5B):c.2077+13G>A	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign
Select item 1169446	NM_012448.4(STAT5B):c.2077+12C>T	STAT5B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1358911	NM_012448.4(STAT5B):c.2077+7A>G	STAT5B	Single nucleotide variant (intron variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1394582	NM_012448.4(STAT5B):c.2065G>T (p.Glu689Ter)	STAT5B (E689*)	Single nucleotide variant (nonsense)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GPathogenic
Select item 570083	NM_012448.4(STAT5B):c.2065G>A (p.Glu689Lys)	STAT5B (E689K)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1058590	NM_012448.4(STAT5B):c.2064C>T (p.Cys688=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1392180	NM_012448.4(STAT5B):c.2063G>A (p.Cys688Tyr)	STAT5B (C688Y)	Single nucleotide variant (missense variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GUncertain significance
Select item 1658390	NM_012448.4(STAT5B):c.2061C>T (p.Pro687=)	STAT5B	Single nucleotide variant (synonymous variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GLikely benign

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