signal transducer and activator of transcription 1, 91kDa - ClinVar - NCBI

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The following term was not found in ClinVar: 91kDa.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 333247	NM_007315.4(STAT1):c.*1473C>T	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 333248	NM_007315.4(STAT1):c.*1399A>G	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GBenign
Select item 333249	NM_007315.4(STAT1):c.*1260A>G	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 333250	NM_007315.4(STAT1):c.*1060A>C	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GBenign
Select item 333251	NM_007315.4(STAT1):c.*1002T>C	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GBenign
Select item 333252	NM_007315.4(STAT1):c.*942A>G	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GBenign
Select item 333253	NM_007315.4(STAT1):c.*932A>C	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 333254	NM_007315.4(STAT1):c.*921G>C	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 333255	NM_007315.4(STAT1):c.*855G>A	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 333256	NM_007315.4(STAT1):c.*670T>G	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 333257	NM_007315.4(STAT1):c.*661T>C	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GBenign
Select item 333258	NM_007315.4(STAT1):c.*535C>T	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +1 more	GBenign
Select item 333259	NM_007315.4(STAT1):c.*461del	STAT1	Deletion (3 prime UTR variant)	Familial Atypical Mycobacteriosis, Autosomal Dominant	GUncertain significance
Select item 333260	NM_007315.4(STAT1):c.*428G>C	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GLikely benign
Select item 333261	NM_007315.4(STAT1):c.*362T>C	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 333262	NM_007315.4(STAT1):c.*304A>T	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GLikely benign
Select item 333263	NM_007315.4(STAT1):c.*154T>C	STAT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 827739	NM_007315.4(STAT1):c.2159C>T (p.Thr720Ile)	STAT1 (T720I)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 9048	NM_007315.4(STAT1):c.1927dup (p.Thr643fs)	STAT1 (T643fs +9 more)	Duplication (frameshift variant)	Immunodeficiency 31B	GPathogenic
Select item 2431772	NM_007315.4(STAT1):c.1894G>C (p.Glu632Gln)	STAT1 (E579Q +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	GUncertain significance
Select item 424473	NM_007315.4(STAT1):c.1765G>T (p.Ala589Ser)	STAT1 (A589S +9 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 9044	NM_007315.4(STAT1):c.1760_1761del (p.Glu587fs)	STAT1 (E587fs +9 more)	Microsatellite (frameshift variant)	Immunodeficiency 31B	GLikely pathogenic
Select item 333267	NM_007315.4(STAT1):c.1727+13G>A	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 897449	NM_007315.4(STAT1):c.1713T>G (p.Pro571=)	STAT1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 333271	NM_007315.4(STAT1):c.1632+6G>A	STAT1	Single nucleotide variant (intron variant)	Immunodeficiency 31B +3 more	GConflicting classifications of pathogenicity
Select item 951668	NM_007315.4(STAT1):c.1591G>A (p.Ala531Thr)	STAT1 (A531T +9 more)	Single nucleotide variant (missense variant)	Immunodeficiency 31B +2 more	GUncertain significance
Select item 1683335	NM_007315.4(STAT1):c.1582+7G>A	STAT1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 898612	NM_007315.4(STAT1):c.1544A>G (p.Asn515Ser)	STAT1 (N515S +9 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 650605	NM_007315.4(STAT1):c.1431G>A (p.Leu477=)	STAT1	Single nucleotide variant (synonymous variant)	Immunodeficiency 31B +2 more	GUncertain significance
Select item 333273	NM_007315.4(STAT1):c.1341C>A (p.Asp447Glu)	STAT1 (D447E +9 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2952404	NM_007315.4(STAT1):c.1286_1287del (p.Glu429fs)	STAT1 (E431fs +9 more)	Microsatellite (frameshift variant)	Immunodeficiency 31B +2 more	GPathogenic
Select item 1013684	NM_007315.4(STAT1):c.1276G>A (p.Val426Ile)	STAT1 (V373I +9 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1990613	NM_007315.4(STAT1):c.1264-20_1264-18del	STAT1	Microsatellite (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 444546	NM_007315.4(STAT1):c.1248C>G (p.Gly416=)	STAT1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 252674	NM_007315.4(STAT1):c.1222-5T>C	STAT1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1803006	NM_007315.4(STAT1):c.1210T>G (p.Phe404Val)	STAT1 (F351V +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	GLikely pathogenic
Select item 644852	NM_007315.4(STAT1):c.1168A>G (p.Met390Val)	STAT1 (M390V +9 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 144006	NM_007315.4(STAT1):c.1154C>T (p.Thr385Met)	STAT1 (T385M +9 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases +17 more	GPathogenic
Select item 208142	NM_007315.4(STAT1):c.1151G>A (p.Gly384Asp)	STAT1 (G384D +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	GPathogenic
Select item 2034817	NM_007315.4(STAT1):c.1112_1114del (p.Arg371del)	STAT1 (R341del +7 more)	Deletion (inframe_deletion +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 1375560	NM_007315.4(STAT1):c.1097+6A>G	STAT1	Single nucleotide variant (intron variant)	Immunodeficiency 31B +2 more	GUncertain significance
Select item 333283	NM_007315.4(STAT1):c.1090T>C (p.Phe364Leu)	STAT1 (F364L +6 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2683749	NM_007315.4(STAT1):c.1066T>G (p.Tyr356Asp)	STAT1 (Y303D +6 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	GLikely pathogenic
Select item 520949	NM_007315.4(STAT1):c.1007A>T (p.Lys336Met)	STAT1 (K336M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1264351	NM_007315.4(STAT1):c.884C>A (p.Thr295Lys)	STAT1 (T262K +4 more)	Single nucleotide variant (missense variant +1 more)	Chronic mucocutaneous candidiasis	GPathogenic
Select item 827742	NM_007315.4(STAT1):c.859T>G (p.Tyr287Asp)	STAT1 (Y287D +4 more)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827741	NM_007315.4(STAT1):c.850G>A (p.Glu284Lys)	STAT1 (E284K +4 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +3 more	GConflicting classifications of pathogenicity
Select item 827740	NM_007315.4(STAT1):c.839T>G (p.Leu280Trp)	STAT1 (L280W +4 more)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 208141	NM_007315.4(STAT1):c.832A>G (p.Lys278Glu)	STAT1 (K278E +4 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	GPathogenic
Select item 30085	NM_007315.4(STAT1):c.821G>A (p.Arg274Gln)	STAT1 (R274Q +4 more)	Single nucleotide variant (missense variant +1 more)	See cases +5 more	GPathogenic
Select item 160354	NM_007315.4(STAT1):c.820C>G (p.Arg274Gly)	STAT1 (R274G +4 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 30083	NM_007315.4(STAT1):c.820C>T (p.Arg274Trp)	STAT1 (R274W +4 more)	Single nucleotide variant (missense variant +1 more)	STAT1-related disorder +4 more	GPathogenic
Select item 30094	NM_007315.4(STAT1):c.812A>C (p.Gln271Pro)	STAT1 (Q271P +4 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	GPathogenic
Select item 30084	NM_007315.4(STAT1):c.800C>T (p.Ala267Val)	STAT1 (A267V +4 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +4 more	GPathogenic
Select item 333285	NM_007315.4(STAT1):c.796G>A (p.Val266Ile)	STAT1 (V266I +4 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 541826	NM_007315.4(STAT1):c.793A>G (p.Ile265Val)	STAT1 (I265V +4 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 897034	NM_007315.4(STAT1):c.786-12G>C	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1526157	NM_007315.4(STAT1):c.776T>C (p.Leu259Pro)	STAT1 (L226P +4 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	GUncertain significance
Select item 897035	NM_007315.4(STAT1):c.735C>T (p.Ser245=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GConflicting classifications of pathogenicity
Select item 333286	NM_007315.4(STAT1):c.722G>A (p.Arg241Gln)	STAT1 (R241Q +4 more)	Single nucleotide variant (missense variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 333289	NM_007315.4(STAT1):c.633+6T>A	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 859053	NM_007315.4(STAT1):c.629G>A (p.Arg210Lys)	STAT1 (R210K +3 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +3 more	GConflicting classifications of pathogenicity
Select item 30082	NM_007315.4(STAT1):c.603G>T (p.Lys201Asn)	STAT1 (K201N +3 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 31B	GPathogenic
Select item 1687428	NM_007315.4(STAT1):c.536_538del (p.Asn179del)	STAT1 (N149del +4 more)	Deletion (inframe_deletion)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	GUncertain significance
Select item 30088	NM_007315.4(STAT1):c.520T>C (p.Cys174Arg)	STAT1 (C174R +3 more)	Single nucleotide variant (missense variant +1 more)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 2431376	NM_007315.4(STAT1):c.501A>C (p.Gln167His)	STAT1 (K165T +4 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	GUncertain significance
Select item 733425	NM_007315.4(STAT1):c.463-6_463-3del	STAT1	Microsatellite (intron variant)	Immunodeficiency 31B +2 more	GLikely benign
Select item 1710090	NM_007315.4(STAT1):c.373-2A>C	STAT1	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 31B +1 more	GPathogenic
Select item 897517	NM_007315.4(STAT1):c.372+13C>T	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 827738	NM_007315.4(STAT1):c.209G>C (p.Arg70Pro)	STAT1 (R70P +2 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 712811	NM_007315.4(STAT1):c.201A>G (p.Gln67=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GConflicting classifications of pathogenicity
Select item 285493	NM_007315.4(STAT1):c.88del (p.Ile30fs)	STAT1 (I30fs +1 more)	Deletion (frameshift variant)	Immunodeficiency 31B +1 more	GPathogenic
Select item 2091853	NM_003151.4(STAT4):c.2204CAA[1] (p.Thr736del)	STAT4, STAT4-AS1 (T736del)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2988312	NM_003151.4(STAT4):c.2044+18_2044+21del	STAT4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1410991	NM_003151.4(STAT4):c.1959T>G (p.Ile653Met)	STAT4 (I653M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572046	NM_003151.4(STAT4):c.1904C>T (p.Ala635Val)	STAT4 (A635V)	Single nucleotide variant (missense variant)	Disabling pansclerotic morphea of childhood	GPathogenic
Select item 2783993	NM_003151.4(STAT4):c.1570+16_1570+19del	STAT4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3350703	NM_003151.4(STAT4):c.1516G>A (p.Val506Ile)	STAT4 (V506I)	Single nucleotide variant (missense variant)	STAT4-related disorder	GUncertain significance
Select item 2192492	NM_003151.4(STAT4):c.1435-9_1435-8del	STAT4	Microsatellite (intron variant)	not provided	GBenign
Select item 1950067	NM_003151.4(STAT4):c.1434+8_1434+9del	STAT4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1487454	NM_003151.4(STAT4):c.1424A>G (p.Asn475Ser)	STAT4 (N475S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1423453	NM_003151.4(STAT4):c.1337C>T (p.Thr446Ile)	STAT4 (T446I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1509676	NM_003151.4(STAT4):c.921G>C (p.Leu307Phe)	STAT4 (L307F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2431873	NM_003151.4(STAT4):c.674T>G (p.Leu225Arg)	STAT4 (L225R)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus, susceptibility to, 11	GUncertain significance
Select item 1026017	NM_003151.4(STAT4):c.383A>T (p.Glu128Val)	STAT4 (E128V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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