STAT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 333246	NM_007315.3(STAT1):c.*1628A>G	STAT1	Single nucleotide variant	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 896885	NM_007315.4(STAT1):c.*1514A>G	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 896886	NM_007315.4(STAT1):c.*1482A>G	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
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 896887	NM_007315.4(STAT1):c.*1317G>A	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 897386	NM_007315.4(STAT1):c.*1298A>G	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
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 897387	NM_007315.4(STAT1):c.*1187C>G	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 897388	NM_007315.4(STAT1):c.*1175A>T	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 897389	NM_007315.4(STAT1):c.*1163T>C	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 897390	NM_007315.4(STAT1):c.*1154C>T	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 897391	NM_007315.4(STAT1):c.*1094G>C	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 897392	NM_007315.4(STAT1):c.*1066C>T	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 898546	NM_007315.4(STAT1):c.*1012A>G	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
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 898547	NM_007315.4(STAT1):c.*959G>A	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
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 895559	NM_007315.4(STAT1):c.*777A>G	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GBenign
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 895560	NM_007315.4(STAT1):c.*645T>G	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
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	GBenign
Select item 895561	NM_007315.4(STAT1):c.*461G>A	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
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 895562	NM_007315.4(STAT1):c.*364G>C	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GBenign
Select item 896961	NM_007315.4(STAT1):c.*363A>G	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
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 896962	NM_007315.4(STAT1):c.*281C>T	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 333263	NM_007315.4(STAT1):c.*154T>C	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GBenign
Select item 896963	NM_007315.4(STAT1):c.*137T>C	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 896964	NM_007315.4(STAT1):c.*121C>T	STAT1	Single nucleotide variant (3 prime UTR variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GUncertain significance
Select item 1999400	NM_007315.4(STAT1):c.2249_*2del (p.Val750fs)	STAT1 (V717fs +12 more)	Deletion (frameshift variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2952382	NM_007315.4(STAT1):c.2239-16T>G	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 1531398	NM_007315.4(STAT1):c.2239-16T>C	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GLikely benign
Select item 2933239	NM_007315.4(STAT1):c.2239-18C>T	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2940207	NM_007315.4(STAT1):c.2239-20C>T	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2628289	NM_007315.4(STAT1):c.2239-153A>C	STAT1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2946141	NM_007315.4(STAT1):c.2238+19C>T	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2926693	NM_007315.4(STAT1):c.2238+18C>A	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 1490742	NM_007315.4(STAT1):c.2238+18C>T	STAT1	Single nucleotide variant (intron variant)	Immunodeficiency 31B +2 more	GLikely benign
Select item 1168008	NM_007315.4(STAT1):c.2238+17G>T	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GBenign
Select item 2932577	NM_007315.4(STAT1):c.2238+12G>A	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 1141237	NM_007315.4(STAT1):c.2238+11C>T	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GLikely benign
Select item 796060	NM_007315.4(STAT1):c.2238+8C>T	STAT1	Single nucleotide variant (intron variant)	STAT1-related disorder +3 more	GLikely benign
Select item 2927985	NM_007315.4(STAT1):c.2238+6T>C	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2930041	NM_007315.4(STAT1):c.2236A>G (p.Met746Val)	STAT1 (M713V +12 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 1975248	NM_007315.4(STAT1):c.2230G>A (p.Asp744Asn)	STAT1 (D665N +12 more)	Single nucleotide variant (missense variant)	Immunodeficiency 31B +3 more	GUncertain significance
Select item 1598133	NM_007315.4(STAT1):c.2229C>T (p.Phe743=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2941076	NM_007315.4(STAT1):c.2217C>T (p.Gly739=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 839216	NM_007315.4(STAT1):c.2201_2208del (p.Val734fs)	STAT1 (V734fs)	Deletion (frameshift variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 1968914	NM_007315.4(STAT1):c.2202G>T (p.Val734=)	STAT1	Single nucleotide variant (synonymous variant)	Immunodeficiency 31B +2 more	GLikely benign
Select item 1117153	NM_007315.4(STAT1):c.2196C>T (p.Asp732=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 31B +2 more	GLikely benign
Select item 1552974	NM_007315.4(STAT1):c.2193T>C (p.Phe731=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GLikely benign
Select item 1335431	NM_007315.4(STAT1):c.2190G>A (p.Glu730=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1901496	NM_007315.4(STAT1):c.2175C>G (p.Pro725=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 31B +2 more	GLikely benign
Select item 1034375	NM_007315.4(STAT1):c.2174C>T (p.Pro725Leu)	STAT1 (P695L +11 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	GUncertain significance
Select item 1120445	NM_007315.4(STAT1):c.2172C>A (p.Leu724=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 31B +2 more	GLikely benign
Select item 1962661	NM_007315.4(STAT1):c.2166C>T (p.Asn722=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2103914	NM_007315.4(STAT1):c.2160A>G (p.Thr720=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 31B +2 more	GLikely benign
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 513400	NM_007315.4(STAT1):c.2145T>C (p.Ser715=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1094287	NM_007315.4(STAT1):c.2139C>T (p.His713=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 31B +2 more	GLikely benign
Select item 474982	NM_007315.4(STAT1):c.2136T>G (p.Val712=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 31B +3 more	GBenign
Select item 2018660	NM_007315.4(STAT1):c.2136-4T>G	STAT1	Single nucleotide variant (intron variant)	Immunodeficiency 31B +2 more	GLikely benign
Select item 2932946	NM_007315.4(STAT1):c.2136-15T>C	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 1264267	NM_007315.4(STAT1):c.2136-318G>A	STAT1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1349352	NM_007315.4(STAT1):c.2135+2T>A	STAT1	Single nucleotide variant (splice donor variant +2 more)	Immunodeficiency 31B +2 more	GLikely pathogenic
Select item 2086767	NM_007315.4(STAT1):c.2134G>A (p.Val712Ile)	STAT1 (V682I +11 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 3171109	NM_007315.4(STAT1):c.2126T>G (p.Val709Gly)	STAT1 (V679G +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 9043	NM_007315.4(STAT1):c.2117T>C (p.Leu706Ser)	STAT1 (L706S +10 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	GPathogenic
Select item 1524110	NM_007315.4(STAT1):c.2102A>G (p.Tyr701Cys)	STAT1 (Y681C +10 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely pathogenic
Select item 2091845	NM_007315.4(STAT1):c.2101T>A (p.Tyr701Asn)	STAT1 (Y699N +10 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 632063	NM_007315.4(STAT1):c.2087C>A (p.Pro696His)	STAT1 (P696H +10 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 1674940	NM_007315.4(STAT1):c.2060-11T>C	STAT1	Single nucleotide variant (intron variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GLikely benign
Select item 2168536	NM_007315.4(STAT1):c.2059+18G>A	STAT1	Single nucleotide variant (intron variant)	Immunodeficiency 31B +2 more	GLikely benign
Select item 1602370	NM_007315.4(STAT1):c.2059+18G>T	STAT1	Single nucleotide variant (intron variant)	Immunodeficiency 31B +2 more	GLikely benign
Select item 1558007	NM_007315.4(STAT1):c.2059+8G>A	STAT1	Single nucleotide variant (intron variant)	Immunodeficiency 31B +2 more	GLikely benign
Select item 955737	NM_007315.4(STAT1):c.2059+6_2059+7del	STAT1	Deletion (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 1042523	NM_007315.4(STAT1):c.2059+5G>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 2929653	NM_007315.4(STAT1):c.2059G>C (p.Ala687Pro)	STAT1 (A667P +9 more)	Single nucleotide variant (missense variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 2427918	NM_007315.4(STAT1):c.2034A>C (p.Gly678=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 31B +2 more	GLikely benign
Select item 474981	NM_007315.4(STAT1):c.2019A>G (p.Lys673=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +3 more	GBenign

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