ClinVar for MedGen (Select 462438) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 497

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064846	NM_007315.4(STAT1):c.185C>A (p.Ser62Ter)	STAT1 (S62* +2 more)	Single nucleotide variant (nonsense)	Immunodeficiency 31B	GLikely pathogenic
Select item 2954496	NM_007315.4(STAT1):c.1857G>A (p.Arg619=)	STAT1	Single nucleotide variant (synonymous variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GLikely benign
Select item 2954287	NM_007315.4(STAT1):c.456G>A (p.Lys152=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GLikely benign
Select item 2954223	NM_007315.4(STAT1):c.1097+20A>G	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GLikely benign
Select item 2954169	NM_007315.4(STAT1):c.2016C>A (p.Asp672Glu)	STAT1 (D641E +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 2953707	NM_007315.4(STAT1):c.1128-4A>G	STAT1	Single nucleotide variant (intron variant)	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GLikely benign
Select item 2953411	NM_007315.4(STAT1):c.2011A>G (p.Ile671Val)	STAT1 (I618V +9 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2953169	NM_007315.4(STAT1):c.38A>G (p.Lys13Arg)	STAT1 (K13R +1 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2953015	NM_007315.4(STAT1):c.633+19G>A	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2952404	NM_007315.4(STAT1):c.1286_1287del (p.Glu429fs)	STAT1 (E431fs +9 more)	Microsatellite (frameshift variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GPathogenic
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 2951481	NM_007315.4(STAT1):c.1688A>G (p.Glu563Gly)	STAT1 (E532G +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2950840	NM_007315.4(STAT1):c.913A>T (p.Thr305Ser)	STAT1 (T275S +4 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2950715	NM_007315.4(STAT1):c.1501G>C (p.Val501Leu)	STAT1 (V448L +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2950410	NM_007315.4(STAT1):c.855G>A (p.Gln285=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2949102	NM_007315.4(STAT1):c.1295C>T (p.Ser432Phe)	STAT1 (S399F +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2948873	NM_007315.4(STAT1):c.208C>G (p.Arg70Gly)	STAT1 (R72G +2 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2948670	NM_007315.4(STAT1):c.1127+1G>A	STAT1	Single nucleotide variant (splice donor variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely pathogenic
Select item 2948016	NM_007315.4(STAT1):c.88A>G (p.Ile30Val)	STAT1 (I32V +1 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2947899	NM_007315.4(STAT1):c.1221+18C>T	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2947787	NM_007315.4(STAT1):c.1124A>G (p.Lys375Arg)	STAT1 (K345R +7 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2947327	NM_007315.4(STAT1):c.1264-5C>A	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2946852	NM_007315.4(STAT1):c.120G>A (p.Lys40=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2946733	NM_007315.4(STAT1):c.1128-9A>G	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2946252	NM_007315.4(STAT1):c.1794C>T (p.Thr598=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
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 2945760	NM_007315.4(STAT1):c.1224A>G (p.Gln408=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2944635	NM_007315.4(STAT1):c.773A>T (p.Gln258Leu)	STAT1 (Q228L +4 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2943294	NM_007315.4(STAT1):c.128+13C>T	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2943116	NM_007315.4(STAT1):c.516C>G (p.Phe172Leu)	STAT1 (F172L +4 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely pathogenic
Select item 2942923	NM_007315.4(STAT1):c.1524T>G (p.Ser508=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2942729	NM_007315.4(STAT1):c.1498G>A (p.Glu500Lys)	STAT1 (E467K +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2942329	NM_007315.4(STAT1):c.274-12A>C	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2942064	NM_007315.4(STAT1):c.861C>G (p.Tyr287Ter)	STAT1 (Y287* +4 more)	Single nucleotide variant (nonsense +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GPathogenic
Select item 2941998	NM_007315.4(STAT1):c.1822C>T (p.Arg608Trp)	STAT1 (R555W +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2941961	NM_007315.4(STAT1):c.375T>C (p.Ala125=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2941874	NM_007315.4(STAT1):c.1447-4C>T	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2941825	NM_007315.4(STAT1):c.786G>T (p.Trp262Cys)	STAT1 (W229C +4 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2941750	NM_007315.4(STAT1):c.1632+19T>C	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2941545	NM_007315.4(STAT1):c.1583-16G>A	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2941273	NM_007315.4(STAT1):c.1727+6G>C	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2941172	NM_007315.4(STAT1):c.758A>G (p.Asn253Ser)	STAT1 (N253S +4 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2941084	NM_007315.4(STAT1):c.1798C>T (p.Leu600=)	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 2941064	NM_007315.4(STAT1):c.1974T>G (p.Asn658Lys)	STAT1 (N656K +9 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2941001	NM_007315.4(STAT1):c.1873+7G>A	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2940745	NM_007315.4(STAT1):c.1363G>T (p.Val455Phe)	STAT1 (V424F +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
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 2940085	NM_007315.4(STAT1):c.203A>G (p.Tyr68Cys)	STAT1 (Y68C +2 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2939743	NM_007315.4(STAT1):c.16G>A (p.Glu6Lys)	STAT1 (E8K +1 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2939437	NM_007315.4(STAT1):c.634G>C (p.Glu212Gln)	STAT1 (E179Q +4 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2938728	NM_007315.4(STAT1):c.1508G>A (p.Ser503Asn)	STAT1 (S470N +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2938030	NM_007315.4(STAT1):c.132G>T (p.Glu44Asp)	STAT1 (E44D +2 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2938004	NM_007315.4(STAT1):c.444T>C (p.Asn148=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2937795	NM_007315.4(STAT1):c.1775A>C (p.Lys592Thr)	STAT1 (K539T +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2937357	NM_007315.4(STAT1):c.541+12C>A	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2936500	NM_007315.4(STAT1):c.1688A>T (p.Glu563Val)	STAT1 (E510V +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2935966	NM_007315.4(STAT1):c.128+9A>G	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2935912	NM_007315.4(STAT1):c.1350_1351delinsTT (p.Thr451Ser)	STAT1 (T418S +9 more)	Indel (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2935428	NM_007315.4(STAT1):c.1756C>G (p.Arg586Gly)	STAT1 (R533G +9 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2935324	NM_007315.4(STAT1):c.295A>G (p.Ile99Val)	STAT1 (I99V +2 more)	Single nucleotide variant (missense variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2935067	NM_007315.4(STAT1):c.1037+18G>A	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2934906	NM_007315.4(STAT1):c.864C>G (p.Thr288=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2934094	NM_007315.4(STAT1):c.867C>T (p.Tyr289=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2934054	NM_007315.4(STAT1):c.1874-11C>A	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2933907	NM_007315.4(STAT1):c.868G>A (p.Glu290Lys)	STAT1 (E260K +4 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2933593	NM_007315.4(STAT1):c.463-6T>G	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
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 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 2932897	NM_007315.4(STAT1):c.1422C>T (p.Tyr474=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
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 2932575	NM_007315.4(STAT1):c.810G>T (p.Leu270=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2932369	NM_007315.4(STAT1):c.463T>C (p.Cys155Arg)	STAT1 (C155R +3 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2932309	NM_007315.4(STAT1):c.1127+13C>T	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2932261	NM_007315.4(STAT1):c.1038-9dup	STAT1	Duplication (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GBenign
Select item 2931704	NM_007315.4(STAT1):c.1684C>T (p.Leu562=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2931305	NM_007315.4(STAT1):c.1632+15G>T	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2930976	NM_007315.4(STAT1):c.1797C>T (p.Phe599=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2930410	NM_007315.4(STAT1):c.355G>A (p.Ala119Thr)	STAT1 (A119T +2 more)	Single nucleotide variant (missense 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 2929758	NM_007315.4(STAT1):c.634-20G>A	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2929653	NM_007315.4(STAT1):c.2059G>C (p.Ala687Pro)	STAT1 (A667P +9 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2928293	NM_007315.4(STAT1):c.1632+10G>A	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2928236	NM_007315.4(STAT1):c.1728-15C>T	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2928074	NM_007315.4(STAT1):c.753G>A (p.Pro251=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 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 2927658	NM_007315.4(STAT1):c.804G>A (p.Glu268=)	STAT1	Single nucleotide variant (synonymous variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2927265	NM_007315.4(STAT1):c.273+13T>C	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2927041	NM_007315.4(STAT1):c.1504C>T (p.Leu502=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2926697	NM_007315.4(STAT1):c.1251C>T (p.Thr417=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
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 2925824	NM_007315.4(STAT1):c.1098-15A>G	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2925734	NM_007315.4(STAT1):c.1590C>T (p.Asn530=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2925339	NM_007315.4(STAT1):c.467T>C (p.Ile156Thr)	STAT1 (I126T +3 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2925338	NM_007315.4(STAT1):c.877C>A (p.Pro293Thr)	STAT1 (P295T +4 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GUncertain significance
Select item 2925337	NM_007315.4(STAT1):c.961A>G (p.Arg321Gly)	STAT1 (R268G +5 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GPathogenic
Select item 2925334	NM_007315.4(STAT1):c.462+18A>G	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2923163	NM_007315.4(STAT1):c.1203G>A (p.Ala401=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2923096	NM_007315.4(STAT1):c.786-20T>C	STAT1	Single nucleotide variant (intron variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign
Select item 2922466	NM_007315.4(STAT1):c.661C>T (p.Leu221=)	STAT1	Single nucleotide variant (synonymous variant)	Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more	GLikely benign

<< First< Prev

Page of 5