ClinVar for MedGen (Select 2078) - ClinVar

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Items: 48

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14138771.	NM_000246.4(CIITA):c.2515C>G (p.Arg839Gly) GRCh37: Chr16:11001864 GRCh38: Chr16:10908007	CIITA	R791G, R839G, R790G, R840G, R816G	Rheumatoid arthritis, MHC class II deficiency, MHC class II deficiency	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14108332.	NM_000246.4(CIITA):c.631C>T (p.Pro211Ser) GRCh37: Chr16:10996517 GRCh38: Chr16:10902660	CIITA	P162S, P163S, P211S, P188S, P212S	Rheumatoid arthritis, MHC class II deficiency, MHC class II deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9925623.	NM_000246.4(CIITA):c.2375A>T (p.Tyr792Phe) GRCh37: Chr16:11001724 GRCh38: Chr16:10907867	CIITA	Y743F, Y744F, Y769F, Y792F, Y793F	MHC class II deficiency, Rheumatoid arthritis	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 9919824.	NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) GRCh37: Chr16:10998628 GRCh38: Chr16:10904771	CIITA	P273L, P274L, P299L, P322L, P323L	MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Uncertain significance (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9909765.	NM_000246.4(CIITA):c.174A>T (p.Gly58=) GRCh37: Chr16:10989260 GRCh38: Chr16:10895403	CIITA		MHC class II deficiency, Rheumatoid arthritis	Uncertain significance (Sep 28, 2021)	criteria provided, single submitter
Select item 9899116.	NM_000246.4(CIITA):c.2831C>T (p.Ser944Leu) GRCh37: Chr16:11004059 GRCh38: Chr16:10910202	CIITA	S360L, S895L, S896L, S921L, S944L, S945L	MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Uncertain significance (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9899077.	NM_000246.4(CIITA):c.2564C>T (p.Ala855Val) GRCh37: Chr16:11001913 GRCh38: Chr16:10908056	CIITA	A806V, A807V, A832V, A855V, A856V	MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Uncertain significance (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9834938.	NM_003263.4(TLR1):c.1324T>C (p.Cys442Arg) GRCh37: Chr4:38799129 GRCh38: Chr4:38797508	TLR1	C442R	Rheumatoid arthritis	Pathogenic (Nov 2, 2020)	no assertion criteria provided
Select item 9834929.	NM_003263.4(TLR1):c.2036T>C (p.Ile679Thr) GRCh37: Chr4:38798417 GRCh38: Chr4:38796796	TLR1	I679T	Rheumatoid arthritis	Pathogenic (Nov 2, 2020)	no assertion criteria provided
Select item 98349110.	NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp) GRCh37: Chr2:233408368 GRCh38: Chr2:232543658	CHRNG	R332W	not specified, Autosomal recessive multiple pterygium syndrome	Conflicting interpretations of pathogenicity (Jun 15, 2023)	criteria provided, conflicting interpretations
Select item 97289511.	NM_012387.3(PADI4):c.335G>C (p.Gly112Ala) GRCh37: Chr1:17660499 GRCh38: Chr1:17334004	PADI4	G112A	Rheumatoid arthritis, Abnormal pulmonary interstitial morphology	association (Feb 1, 2020)	no assertion criteria provided
Select item 97289412.	NM_012387.3(PADI4):c.349T>C (p.Leu117=) GRCh37: Chr1:17662662 GRCh38: Chr1:17336167	PADI4		Rheumatoid arthritis, Abnormal pulmonary interstitial morphology	association (Feb 1, 2020)	no assertion criteria provided
Select item 97289313.	NM_012387.3(PADI4):c.245T>C (p.Val82Ala) GRCh37: Chr1:17657616 GRCh38: Chr1:17331121	PADI4	V82A	Rheumatoid arthritis, Abnormal pulmonary interstitial morphology	association (Feb 1, 2020)	no assertion criteria provided
Select item 97289214.	NM_012387.3(PADI4):c.163G>A (p.Gly55Ser) GRCh37: Chr1:17657534 GRCh38: Chr1:17331039	PADI4	G55S	Rheumatoid arthritis, Abnormal pulmonary interstitial morphology	association (Feb 1, 2020)	no assertion criteria provided
Select item 97289115.	NM_007365.3(PADI2):c.92+1006C>A GRCh37: Chr1:17444769 GRCh38: Chr1:17118274	PADI2		Rheumatoid arthritis, Abnormal pulmonary interstitial morphology	association (Feb 1, 2020)	no assertion criteria provided
Select item 97289016.	NM_007365.3(PADI2):c.729T>G (p.Gly243=) GRCh37: Chr1:17413121 GRCh38: Chr1:17086626	PADI2		Rheumatoid arthritis, Abnormal pulmonary interstitial morphology	association (Feb 1, 2020)	no assertion criteria provided
Select item 97288917.	NM_007365.3(PADI2):c.1159-39G>A GRCh37: Chr1:17405949 GRCh38: Chr1:17079454	PADI2		Rheumatoid arthritis, Abnormal pulmonary interstitial morphology	association (Feb 1, 2020)	no assertion criteria provided
Select item 97288818.	NM_007365.3(PADI2):c.*258A>T GRCh37: Chr1:17395281 GRCh38: Chr1:17068786	PADI2		Rheumatoid arthritis, Abnormal pulmonary interstitial morphology	association (Feb 1, 2020)	no assertion criteria provided
Select item 97251819.	NM_000246.4(CIITA):c.1939C>T (p.Arg647Cys) GRCh37: Chr16:11001288 GRCh38: Chr16:10907431	CIITA	R624C, R598C, R647C, R648C, R599C	MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Uncertain significance (Jul 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97184020.	NM_000246.4(CIITA):c.3197G>A (p.Arg1066His) GRCh37: Chr16:11016071 GRCh38: Chr16:10922214	CIITA	R1017H, R1018H, R1043H, R1066H, R1067H, R482H	Inborn genetic diseases, MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 95825021.	NM_000246.4(CIITA):c.2113G>A (p.Glu705Lys) GRCh37: Chr16:11001462 GRCh38: Chr16:10907605	CIITA	E656K, E657K, E705K, E682K, E706K	MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Uncertain significance (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93451122.	NM_000246.4(CIITA):c.2113G>C (p.Glu705Gln) GRCh37: Chr16:11001462 GRCh38: Chr16:10907605	CIITA	E657Q, E682Q, E706Q, E656Q, E705Q	Rheumatoid arthritis, MHC class II deficiency, MHC class II deficiency	Uncertain significance (Sep 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88759123.	NM_000246.4(CIITA):c.358+11G>A GRCh37: Chr16:10992600 GRCh38: Chr16:10898743	CIITA		MHC class II deficiency, MHC class II deficiency, Rheumatoid arthritis	Benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82799724.	NM_000246.4(CIITA):c.2817-8C>G GRCh37: Chr16:11004037 GRCh38: Chr16:10910180	CIITA		MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Conflicting interpretations of pathogenicity (Mar 14, 2022)	criteria provided, conflicting interpretations
Select item 80102125.	Multiple alleles GRCh37: Chr16:11347858 GRCh38: Chr16:11254001	SOCS1, SOCS1, SOCS1		Rheumatoid arthritis	Affects (Nov 30, 2019)	no assertion criteria provided
Select item 62592126.	NM_000246.4(CIITA):c.931A>G (p.Met311Val) GRCh37: Chr16:10997746 GRCh38: Chr16:10903889	CIITA	M311V, M262V, M312V, M263V, M288V	MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 62591927.	NM_000246.4(CIITA):c.929A>T (p.Asn310Ile) GRCh37: Chr16:10997744 GRCh38: Chr16:10903887	CIITA	N310I, N311I, N261I, N262I, N287I	MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 59899428.	NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) GRCh37: Chr16:11017111 GRCh38: Chr16:10923254	CIITA	S1115N, S1116N, S531N, S1066N, S1067N, S1092N	Rheumatoid arthritis, MHC class II deficiency, MHC class II deficiency, Rheumatoid arthritis, Colitis, Thrombocytopenia, Inflammation of the large intestine, Hematochezia	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59088929.	NC_000001.11:g.17157671G>T GRCh37: Chr1:17484166 GRCh38: Chr1:17157671	PADI4		Rheumatoid arthritis	association	no assertion criteria provided
Select item 59079030.	NM_012387.3(PADI4):c.341-15T>C GRCh37: Chr1:17662639 GRCh38: Chr1:17336144	PADI4		Rheumatoid arthritis	association	no assertion criteria provided
Select item 57579831.	NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu) GRCh37: Chr16:11000905 GRCh38: Chr16:10907048	CIITA	P519L, P520L, P470L, P471L, P496L	MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57129132.	NM_000246.4(CIITA):c.307C>A (p.Gln103Lys) GRCh37: Chr16:10992538 GRCh38: Chr16:10898681	CIITA	Q103K, Q79K	MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Uncertain significance (Dec 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 57117433.	NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr) GRCh37: Chr16:11016091 GRCh38: Chr16:10922234	CIITA	S1073T, S1074T, S489T, S1025T, S1050T, S1024T	MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56942234.	NM_000246.4(CIITA):c.413T>C (p.Val138Ala) GRCh37: Chr16:10992836 GRCh38: Chr16:10898979	CIITA	V138A, V139A, V115A	MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56529135.	NM_001014286.3(SUPT20H):c.73A>T (p.Lys25Ter) GRCh37: Chr13:37622040 GRCh38: Chr13:37047903	SUPT20H	K25*	Rheumatoid arthritis	risk factor (Jun 16, 2017)	no assertion criteria provided
Select item 52878336.	NM_000246.4(CIITA):c.286G>A (p.Ala96Thr) GRCh37: Chr16:10989612 GRCh38: Chr16:10895755	CIITA	A96T, A72T	Inborn genetic diseases, MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52878137.	NM_000246.4(CIITA):c.170C>A (p.Ala57Asp) GRCh37: Chr16:10989256 GRCh38: Chr16:10895399	CIITA	A57D, A33D	MHC class II deficiency, Rheumatoid arthritis	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 45666238.	NM_000572.3(IL10):c.43G>A (p.Gly15Arg) GRCh37: Chr1:206945738 GRCh38: Chr1:206772393	IL10, IL19, LOC128462409	G15R	Inflammatory bowel disease, not provided, Susceptibility to HIV infection, Graft-versus-host disease, susceptibility to, Rheumatoid arthritis	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 31773839.	NM_000246.4(CIITA):c.*465G>A GRCh37: Chr16:11018177 GRCh38: Chr16:10924320	CIITA		Rheumatoid arthritis, MHC class II deficiency, MHC class II deficiency	Uncertain significance (Aug 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31772940.	NM_000246.4(CIITA):c.*125C>T GRCh37: Chr16:11017837 GRCh38: Chr16:10923980	CIITA		Rheumatoid arthritis, MHC class II deficiency, MHC class II deficiency	Uncertain significance (Oct 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31771641.	NM_000246.4(CIITA):c.2651G>A (p.Arg884His) GRCh37: Chr16:11002000 GRCh38: Chr16:10908143	CIITA	R884H, R885H, R835H, R836H, R861H	Rheumatoid arthritis, MHC class II deficiency, MHC class II deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31770442.	NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu) GRCh37: Chr16:11001445 GRCh38: Chr16:10907588	CIITA	P699L, P700L, P650L, P651L, P676L	Rheumatoid arthritis, MHC class II deficiency, MHC class II deficiency	Uncertain significance (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 954643.	NM_000246.3(CIITA):c.-286G= GRCh37: Chr16:10970902 GRCh38: Chr16:10877045	CIITA		Rheumatoid arthritis	risk factor (Oct 1, 2006)	no assertion criteria provided
Select item 890944.	NM_015967.8(PTPN22):c.1858= (p.Trp620=) GRCh37: Chr1:114377568 GRCh38: Chr1:113834946	AP4B1-AS1, PTPN22	R620W, R596W, R565W	not provided	Benign (Oct 17, 2018)	criteria provided, single submitter
Select item 847545.	NM_001144962.2(NFKBIL1):c.-13+590T>A GRCh37: Chr6:31515340 GRCh38: Chr6:31547563	NFKBIL1		Rheumatoid arthritis	risk factor (Feb 1, 2003)	no assertion criteria provided
Select item 574946.	NM_003059.3(SLC22A4):c.393+6607C>T GRCh37: Chr5:131637309 GRCh38: Chr5:132301616	SLC22A4		Rheumatoid arthritis	risk factor (Dec 1, 2003)	no assertion criteria provided
Select item 489547.	NM_016382.4(CD244):c.834+526A>G GRCh37: Chr1:160807715 GRCh38: Chr1:160837925	CD244		Rheumatoid arthritis	risk factor (Oct 1, 2008)	no assertion criteria provided
Select item 339648.	NM_001098629.3(IRF5):c.-12+198= GRCh37: Chr7:128578301 GRCh38: Chr7:128938247	IRF5		Rheumatoid arthritis, Systemic lupus erythematosus, susceptibility to, 10	Pathogenic; risk factor (Mar 15, 2008)	no assertion criteria provided

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Items: 48