ClinVar for MedGen (Select 411230) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24275171.	NC_000002.11:g.(?_113875596)_(113890448_?)dup GRCh37: Chr2:113875596-113890448	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 21848722.	NM_173842.3(IL1RN):c.444A>G (p.Thr148=) GRCh37: Chr2:113890358 GRCh38: Chr2:113132781	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 21839743.	NM_173842.3(IL1RN):c.369C>T (p.Phe123=) GRCh37: Chr2:113890283 GRCh38: Chr2:113132706	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 21672414.	NM_173842.3(IL1RN):c.114C>T (p.Phe38=) GRCh37: Chr2:113885315 GRCh38: Chr2:113127738	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 21445435.	NM_173841.3(IL1RN):c.4G>T (p.Ala2Ser) GRCh37: Chr2:113875599 GRCh38: Chr2:113118022	IL1RN	A2S	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 21351276.	NM_173842.3(IL1RN):c.306_312del (p.Arg102fs) GRCh37: Chr2:113888718-113888724 GRCh38: Chr2:113131141-113131147	IL1RN	R68fs, R105fs, R84fs, R102fs	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 21220917.	NM_173842.3(IL1RN):c.258T>C (p.His86=) GRCh37: Chr2:113888674 GRCh38: Chr2:113131097	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 21151268.	NM_173842.3(IL1RN):c.337C>T (p.Leu113=) GRCh37: Chr2:113890251 GRCh38: Chr2:113132674	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 20997839.	NM_173842.3(IL1RN):c.396C>G (p.Pro132=) GRCh37: Chr2:113890310 GRCh38: Chr2:113132733	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 209809110.	NM_173841.3(IL1RN):c.10+4A>G GRCh37: Chr2:113875609 GRCh38: Chr2:113118032	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 206190011.	NM_173842.3(IL1RN):c.380G>A (p.Arg127His) GRCh37: Chr2:113890294 GRCh38: Chr2:113132717	IL1RN	R130H, R127H, R109H, R93H	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 205035512.	NM_173841.3(IL1RN):c.10+14A>C GRCh37: Chr2:113875619 GRCh38: Chr2:113118042	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 203112313.	NM_173842.3(IL1RN):c.319-12T>C GRCh37: Chr2:113890221 GRCh38: Chr2:113132644	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 197938614.	NM_173842.3(IL1RN):c.117-18A>C GRCh37: Chr2:113887135 GRCh38: Chr2:113129558	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 197470415.	NM_173842.3(IL1RN):c.116+13C>T GRCh37: Chr2:113885330 GRCh38: Chr2:113127753	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 195212016.	NM_173841.3(IL1RN):c.10+11T>C GRCh37: Chr2:113875616 GRCh38: Chr2:113118039	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 194238517.	NM_173842.3(IL1RN):c.133C>T (p.Gln45Ter) GRCh37: Chr2:113887169 GRCh38: Chr2:113129592	IL1RN	Q11, Q27, Q45, Q48	Sterile multifocal osteomyelitis with periostitis and pustulosis	Pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 194237718.	NM_173842.3(IL1RN):c.206-16del GRCh37: Chr2:113888603 GRCh38: Chr2:113131026	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 192842119.	NM_173842.3(IL1RN):c.145T>C (p.Tyr49His) GRCh37: Chr2:113887181 GRCh38: Chr2:113129604	IL1RN	Y15H, Y52H, Y49H, Y31H	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 190872920.	NM_173841.3(IL1RN):c.18G>T (p.Leu6Phe) GRCh37: Chr2:113877650 GRCh38: Chr2:113120073	IL1RN	L6F	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 190871021.	NM_173842.3(IL1RN):c.97A>G (p.Ser33Gly) GRCh37: Chr2:113885298 GRCh38: Chr2:113127721	IL1RN	S33G, S15G, S36G	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 169381722.	NM_173842.3(IL1RN):c.390_391inv (p.Gly131Ser) GRCh37: Chr2:113890304-113890305 GRCh38: Chr2:113132727-113132728	IL1RN	G113S, G131S, G134S, G97S	not provided, Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167439523.	NM_173842.3(IL1RN):c.206-11T>C GRCh37: Chr2:113888611 GRCh38: Chr2:113131034	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 165273124.	NM_173842.3(IL1RN):c.116+15A>G GRCh37: Chr2:113885332 GRCh38: Chr2:113127755	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 163658725.	NM_173842.3(IL1RN):c.417C>T (p.Ala139=) GRCh37: Chr2:113890331 GRCh38: Chr2:113132754	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Apr 28, 2021)	criteria provided, single submitter
Select item 161087526.	NM_173841.3(IL1RN):c.73+10T>C GRCh37: Chr2:113877715 GRCh38: Chr2:113120138	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 161070227.	NM_173842.3(IL1RN):c.261A>G (p.Gly87=) GRCh37: Chr2:113888677 GRCh38: Chr2:113131100	IL1RN		not provided, Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160917628.	NM_173842.3(IL1RN):c.319-16_319-12del GRCh37: Chr2:113890217-113890221 GRCh38: Chr2:113132640-113132644	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 159786729.	NM_173842.3(IL1RN):c.318+17G>A GRCh37: Chr2:113888751 GRCh38: Chr2:113131174	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 159565330.	NM_173841.3(IL1RN):c.11-16A>C GRCh37: Chr2:113877627 GRCh38: Chr2:113120050	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Feb 20, 2021)	criteria provided, single submitter
Select item 159405731.	NM_173842.3(IL1RN):c.447G>A (p.Ala149=) GRCh37: Chr2:113890361 GRCh38: Chr2:113132784	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 158939532.	NM_173842.3(IL1RN):c.426C>G (p.Pro142=) GRCh37: Chr2:113890340 GRCh38: Chr2:113132763	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Nov 5, 2021)	criteria provided, single submitter
Select item 158934533.	NM_173842.3(IL1RN):c.319-17C>T GRCh37: Chr2:113890216 GRCh38: Chr2:113132639	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Benign (Sep 1, 2022)	criteria provided, single submitter
Select item 158190934.	NM_173842.3(IL1RN):c.243G>A (p.Leu81=) GRCh37: Chr2:113888659 GRCh38: Chr2:113131082	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 157204535.	NM_173842.3(IL1RN):c.300G>A (p.Glu100=) GRCh37: Chr2:113888716 GRCh38: Chr2:113131139	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis, Stomach cancer, Microvascular complications of diabetes, susceptibility to, 4	Likely benign (Aug 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 156742536.	NM_173842.3(IL1RN):c.156C>T (p.Asn52=) GRCh37: Chr2:113887192 GRCh38: Chr2:113129615	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Apr 19, 2021)	criteria provided, single submitter
Select item 155130137.	NM_173841.3(IL1RN):c.48A>G (p.Glu16=) GRCh37: Chr2:113877680 GRCh38: Chr2:113120103	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 152211238.	NM_173842.3(IL1RN):c.377T>C (p.Ile126Thr) GRCh37: Chr2:113890291 GRCh38: Chr2:113132714	IL1RN	I129T, I92T, I108T, I126T	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 152100739.	NM_173842.3(IL1RN):c.427G>A (p.Gly143Ser) GRCh37: Chr2:113890341 GRCh38: Chr2:113132764	IL1RN	G146S, G109S, G125S, G143S	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 152057540.	NM_173842.3(IL1RN):c.343G>A (p.Glu115Lys) GRCh37: Chr2:113890257 GRCh38: Chr2:113132680	IL1RN	E115K, E118K, E81K, E97K	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 151343341.	NM_173842.3(IL1RN):c.99C>G (p.Ser33Arg) GRCh37: Chr2:113885300 GRCh38: Chr2:113127723	IL1RN	S15R, S33R, S36R	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 149612542.	NM_173842.3(IL1RN):c.77G>A (p.Arg26Gln) GRCh37: Chr2:113885278 GRCh38: Chr2:113127701	IL1RN	R29Q, R8Q, R26Q	Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147158843.	NM_173842.3(IL1RN):c.380G>T (p.Arg127Leu) GRCh37: Chr2:113890294 GRCh38: Chr2:113132717	IL1RN	R109L, R130L, R127L, R93L	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 145934844.	NC_000002.11:g.(?_113817016)_(113890448_?)del GRCh37: Chr2:113817016-113890448	IL1F10, IL1RN, IL36RN		Generalized pustular psoriasis, Sterile multifocal osteomyelitis with periostitis and pustulosis	Pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 145019245.	NM_173842.3(IL1RN):c.526G>T (p.Asp176Tyr) GRCh37: Chr2:113890440 GRCh38: Chr2:113132863	IL1RN	D158Y, D176Y, D142Y, D179Y	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Sep 29, 2021)	criteria provided, single submitter
Select item 144667746.	NM_173842.3(IL1RN):c.259G>A (p.Gly87Arg) GRCh37: Chr2:113888675 GRCh38: Chr2:113131098	IL1RN	G53R, G69R, G90R, G87R	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 144302047.	NM_173842.3(IL1RN):c.241C>G (p.Leu81Val) GRCh37: Chr2:113888657 GRCh38: Chr2:113131080	IL1RN	L63V, L81V, L84V, L47V	Sterile multifocal osteomyelitis with periostitis and pustulosis, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 2, 2023)	criteria provided, conflicting interpretations
Select item 142246748.	NM_173841.3(IL1RN):c.20A>G (p.Tyr7Cys) GRCh37: Chr2:113877652 GRCh38: Chr2:113120075	IL1RN	Y7C	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 141868249.	NM_173842.3(IL1RN):c.364C>T (p.Arg122Cys) GRCh37: Chr2:113890278 GRCh38: Chr2:113132701	IL1RN	R122C, R104C, R125C, R88C	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 141355150.	NM_173841.3(IL1RN):c.16T>G (p.Leu6Val) GRCh37: Chr2:113877648 GRCh38: Chr2:113120071	IL1RN	L6V	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 140976951.	NM_173842.3(IL1RN):c.342C>T (p.Ser114=) GRCh37: Chr2:113890256 GRCh38: Chr2:113132679	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 139820152.	NM_173842.3(IL1RN):c.476C>T (p.Thr159Ile) GRCh37: Chr2:113890390 GRCh38: Chr2:113132813	IL1RN	T125I, T159I, T141I, T162I	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 137071053.	NM_173842.3(IL1RN):c.210G>T (p.Lys70Asn) GRCh37: Chr2:113888626 GRCh38: Chr2:113131049	IL1RN	K36N, K70N, K52N, K73N	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 136426854.	NM_173842.3(IL1RN):c.366C>T (p.Arg122=) GRCh37: Chr2:113890280 GRCh38: Chr2:113132703	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 135359855.	NM_173842.3(IL1RN):c.173G>T (p.Gly58Val) GRCh37: Chr2:113887209 GRCh38: Chr2:113129632	IL1RN	G24V, G40V, G58V, G61V	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 116472656.	NM_173841.3(IL1RN):c.73+19C>T GRCh37: Chr2:113877724 GRCh38: Chr2:113120147	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Benign (Oct 23, 2022)	criteria provided, single submitter
Select item 116452957.	NM_173842.3(IL1RN):c.318+19T>G GRCh37: Chr2:113888753 GRCh38: Chr2:113131176	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 115879358.	NM_173842.3(IL1RN):c.219G>A (p.Val73=) GRCh37: Chr2:113888635 GRCh38: Chr2:113131058	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 115731459.	NM_173842.3(IL1RN):c.141C>G (p.Thr47=) GRCh37: Chr2:113887177 GRCh38: Chr2:113129600	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Jun 4, 2020)	criteria provided, single submitter
Select item 114402160.	NM_173842.3(IL1RN):c.186A>G (p.Gly62=) GRCh37: Chr2:113887222 GRCh38: Chr2:113129645	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 112168361.	NM_173842.3(IL1RN):c.336C>T (p.Asp112=) GRCh37: Chr2:113890250 GRCh38: Chr2:113132673	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome	Conflicting interpretations of pathogenicity (Feb 27, 2020)	criteria provided, conflicting interpretations
Select item 111805662.	NM_173842.3(IL1RN):c.108A>G (p.Gln36=) GRCh37: Chr2:113885309 GRCh38: Chr2:113127732	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Jan 13, 2020)	criteria provided, single submitter
Select item 110743463.	NM_173841.3(IL1RN):c.66C>T (p.Asp22=) GRCh37: Chr2:113877698 GRCh38: Chr2:113120121	IL1RN		Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis	Conflicting interpretations of pathogenicity (Feb 16, 2021)	criteria provided, conflicting interpretations
Select item 109318564.	NM_173842.3(IL1RN):c.206-4C>G GRCh37: Chr2:113888618 GRCh38: Chr2:113131041	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Jul 26, 2021)	criteria provided, single submitter
Select item 108827465.	NM_173842.3(IL1RN):c.384A>T (p.Ser128=) GRCh37: Chr2:113890298 GRCh38: Chr2:113132721	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Dec 15, 2019)	criteria provided, single submitter
Select item 108123766.	NM_173842.3(IL1RN):c.528C>T (p.Asp176=) GRCh37: Chr2:113890442 GRCh38: Chr2:113132865	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 106126067.	NM_173842.3(IL1RN):c.391G>T (p.Gly131Cys) GRCh37: Chr2:113890305 GRCh38: Chr2:113132728	IL1RN	G113C, G131C, G134C, G97C	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 105501468.	NM_173842.3(IL1RN):c.490G>A (p.Glu164Lys) GRCh37: Chr2:113890404 GRCh38: Chr2:113132827	IL1RN	E130K, E146K, E164K, E167K	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 105487969.	NM_173842.3(IL1RN):c.386_389del (p.Asp129fs) GRCh37: Chr2:113890297-113890300 GRCh38: Chr2:113132720-113132723	IL1RN	D111fs, D129fs, D132fs, D95fs	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 105472070.	NM_173842.3(IL1RN):c.249G>A (p.Leu83=) GRCh37: Chr2:113888665 GRCh38: Chr2:113131088	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 105314671.	NM_173842.3(IL1RN):c.500T>A (p.Met167Lys) GRCh37: Chr2:113890414 GRCh38: Chr2:113132837	IL1RN	M133K, M149K, M167K, M170K	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 105268072.	NM_173842.3(IL1RN):c.379C>T (p.Arg127Cys) GRCh37: Chr2:113890293 GRCh38: Chr2:113132716	IL1RN	R109C, R127C, R130C, R93C	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 104461473.	NC_000002.11:g.(?_113877623)_(113877725_?)del GRCh37: Chr2:113877623-113877725	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jan 2, 2020)	criteria provided, single submitter
Select item 103977774.	NM_173842.3(IL1RN):c.331dup (p.Thr111fs) GRCh37: Chr2:113890244-113890245 GRCh38: Chr2:113132667-113132668	IL1RN	T93fs, T77fs, T114fs, T111fs	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (May 13, 2020)	criteria provided, single submitter
Select item 103724875.	NM_173842.3(IL1RN):c.388A>G (p.Ser130Gly) GRCh37: Chr2:113890302 GRCh38: Chr2:113132725	IL1RN	S133G, S112G, S130G, S96G	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 102453276.	NM_173842.3(IL1RN):c.298G>A (p.Glu100Lys) GRCh37: Chr2:113888714 GRCh38: Chr2:113131137	IL1RN	E100K, E103K, E66K, E82K	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 101575677.	NM_173842.3(IL1RN):c.212T>C (p.Ile71Thr) GRCh37: Chr2:113888628 GRCh38: Chr2:113131051	IL1RN	I37T, I53T, I71T, I74T	Microvascular complications of diabetes, susceptibility to, 4, Stomach cancer, Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100929478.	NM_173841.3(IL1RN):c.26A>T (p.Glu9Val) GRCh37: Chr2:113877658 GRCh38: Chr2:113120081	IL1RN	E9V	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 100660779.	NM_173842.3(IL1RN):c.267G>C (p.Lys89Asn) GRCh37: Chr2:113888683 GRCh38: Chr2:113131106	IL1RN	K55N, K71N, K89N, K92N	Sterile multifocal osteomyelitis with periostitis and pustulosis, Inborn genetic diseases	Uncertain significance (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 100503980.	NM_173842.3(IL1RN):c.526G>A (p.Asp176Asn) GRCh37: Chr2:113890440 GRCh38: Chr2:113132863	IL1RN	D142N, D158N, D176N, D179N	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 100465781.	NM_173842.3(IL1RN):c.318+3A>G GRCh37: Chr2:113888737 GRCh38: Chr2:113131160	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 100212182.	NM_173842.3(IL1RN):c.449T>C (p.Met150Thr) GRCh37: Chr2:113890363 GRCh38: Chr2:113132786	IL1RN	M116T, M132T, M150T, M153T	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 99850983.	NM_173842.3(IL1RN):c.197A>G (p.Asn66Ser) GRCh37: Chr2:113887233 GRCh38: Chr2:113129656	IL1RN	N32S, N48S, N66S, N69S	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 96444684.	NM_173842.3(IL1RN):c.305G>C (p.Arg102Thr) GRCh37: Chr2:113888721 GRCh38: Chr2:113131144	IL1RN	R102T, R84T, R105T, R68T	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 95825185.	NM_173842.3(IL1RN):c.220G>A (p.Val74Ile) GRCh37: Chr2:113888636 GRCh38: Chr2:113131059	IL1RN	V56I, V74I, V40I, V77I	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 95399086.	NM_173842.3(IL1RN):c.446C>T (p.Ala149Val) GRCh37: Chr2:113890360 GRCh38: Chr2:113132783	IL1RN	A115V, A131V, A149V, A152V	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 95377687.	NM_173841.3(IL1RN):c.4G>A (p.Ala2Thr) GRCh37: Chr2:113875599 GRCh38: Chr2:113118022	IL1RN	A2T	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 94870788.	NM_173842.3(IL1RN):c.169G>T (p.Ala57Ser) GRCh37: Chr2:113887205 GRCh38: Chr2:113129628	IL1RN	A60S, A23S, A39S, A57S	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 94447789.	NM_173842.3(IL1RN):c.496G>A (p.Val166Ile) GRCh37: Chr2:113890410 GRCh38: Chr2:113132833	IL1RN	V166I, V169I, V132I, V148I	Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis, Microvascular complications of diabetes, susceptibility to, 4, Stomach cancer	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89431890.	NM_173842.3(IL1RN):c.*303C>G GRCh37: Chr2:113890751 GRCh38: Chr2:113133174	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89431791.	NM_173842.3(IL1RN):c.*290T>A GRCh37: Chr2:113890738 GRCh38: Chr2:113133161	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89393292.	NM_173842.3(IL1RN):c.*75C>G GRCh37: Chr2:113890523 GRCh38: Chr2:113132946	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89368493.	NM_173841.2(IL1RN):c.*1156T>C GRCh37: Chr2:113891604 GRCh38: Chr2:113134027	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89368394.	NM_173842.3(IL1RN):c.*1070T>G GRCh37: Chr2:113891518 GRCh38: Chr2:113133941	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89364495.	NM_173842.3(IL1RN):c.205+8G>A GRCh37: Chr2:113887249 GRCh38: Chr2:113129672	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89364396.	NM_173842.3(IL1RN):c.166G>A (p.Val56Ile) GRCh37: Chr2:113887202 GRCh38: Chr2:113129625	IL1RN	V22I, V38I, V59I, V56I	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89287097.	NM_173842.3(IL1RN):c.*605T>C GRCh37: Chr2:113891053 GRCh38: Chr2:113133476	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89286998.	NM_173842.3(IL1RN):c.*537G>A GRCh37: Chr2:113890985 GRCh38: Chr2:113133408	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 89286899.	NM_173842.3(IL1RN):c.*350C>G GRCh37: Chr2:113890798 GRCh38: Chr2:113133221	IL1RN		Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 839891100.	NM_173842.3(IL1RN):c.466G>A (p.Val156Ile) GRCh37: Chr2:113890380 GRCh38: Chr2:113132803	IL1RN	V122I, V138I, V156I, V159I	Sterile multifocal osteomyelitis with periostitis and pustulosis	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter

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