ClinVar for MedGen (Select 40219) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24246061.	NC_000004.11:g.(?_493125)_(3495228_?)dup GRCh37: Chr4:493125-3495228	GRK4, HAUS3, MSANTD1, MXD4, NICOL1, HGFAC, HTT, IDUA, LETM1, MAEA, MFSD10, MYL5, NAT8L, NELFA, ADD1, ATP5ME, CPLX1, CRIPAK, CTBP1, DGKQ, DOK7, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, NKX1-1, NOP14, NSD2, PCGF3, PDE6B, PIGG, POLN, RGS12, RNF212, RNF4, SH3BP2, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, TNIP2, UVSSA, ZFYVE28, ZNF721		Fibrous dysplasia of jaw	Uncertain significance (Nov 1, 2021)	criteria provided, single submitter
Select item 24210712.	NM_001122681.2(SH3BP2):c.1438C>G (p.Pro480Ala) GRCh37: Chr4:2834089 GRCh38: Chr4:2832362	SH3BP2	P480A, P508A, P537A	Fibrous dysplasia of jaw	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 24185653.	NM_001122681.2(SH3BP2):c.586+11C>T GRCh37: Chr4:2829412 GRCh38: Chr4:2827685	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 24177834.	NM_001122681.2(SH3BP2):c.569A>C (p.Glu190Ala) GRCh37: Chr4:2829384 GRCh38: Chr4:2827657	SH3BP2	E190A, E218A, E247A	Fibrous dysplasia of jaw	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 24144405.	NM_001122681.2(SH3BP2):c.1A>G (p.Met1Val) GRCh37: Chr4:2822345 GRCh38: Chr4:2820618	SH3BP2	M1V, M29V, M58V	Fibrous dysplasia of jaw	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 24133636.	NM_001122681.2(SH3BP2):c.1177C>T (p.Pro393Ser) GRCh37: Chr4:2831810 GRCh38: Chr4:2830083	SH3BP2	P393S, P421S, P450S	Fibrous dysplasia of jaw	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 22035027.	NM_001122681.2(SH3BP2):c.320C>T (p.Thr107Met) GRCh37: Chr4:2826420 GRCh38: Chr4:2824693	SH3BP2	T164M, T107M, T135M	Fibrous dysplasia of jaw	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 21998898.	NM_001122681.2(SH3BP2):c.1611C>T (p.His537=) GRCh37: Chr4:2835486 GRCh38: Chr4:2833759	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 21951889.	NM_001122681.2(SH3BP2):c.655G>C (p.Asp219His) GRCh37: Chr4:2831288 GRCh38: Chr4:2829561	SH3BP2	D219H, D247H, D276H	Fibrous dysplasia of jaw	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 218388210.	NM_001122681.2(SH3BP2):c.986G>A (p.Arg329Lys) GRCh37: Chr4:2831619 GRCh38: Chr4:2829892	SH3BP2	R357K, R329K, R386K	Fibrous dysplasia of jaw	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 218139811.	NM_001122681.2(SH3BP2):c.1230C>T (p.Leu410=) GRCh37: Chr4:2831863 GRCh38: Chr4:2830136	SH3BP2		Fibrous dysplasia of jaw	Likely benign (May 2, 2022)	criteria provided, single submitter
Select item 218015112.	NM_001122681.2(SH3BP2):c.821C>A (p.Pro274His) GRCh37: Chr4:2831454 GRCh38: Chr4:2829727	SH3BP2	P331H, P274H, P302H	Fibrous dysplasia of jaw	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 218015013.	NM_001122681.2(SH3BP2):c.703C>T (p.Leu235=) GRCh37: Chr4:2831336 GRCh38: Chr4:2829609	SH3BP2		Fibrous dysplasia of jaw	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 217993814.	NM_001122681.2(SH3BP2):c.1005G>T (p.Lys335Asn) GRCh37: Chr4:2831638 GRCh38: Chr4:2829911	SH3BP2	K363N, K335N, K392N	Fibrous dysplasia of jaw	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 217884915.	NM_001122681.2(SH3BP2):c.1506C>T (p.Asp502=) GRCh37: Chr4:2834734 GRCh38: Chr4:2833007	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 217536016.	NM_001122681.2(SH3BP2):c.1233G>T (p.Pro411=) GRCh37: Chr4:2831866 GRCh38: Chr4:2830139	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 217360517.	NM_001122681.2(SH3BP2):c.67A>T (p.Met23Leu) GRCh37: Chr4:2822411 GRCh38: Chr4:2820684	SH3BP2	M51L, M80L, M23L	Fibrous dysplasia of jaw	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 217291118.	NM_001122681.2(SH3BP2):c.1635C>T (p.Ser545=) GRCh37: Chr4:2835510 GRCh38: Chr4:2833783	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 216474219.	NM_001122681.2(SH3BP2):c.172G>A (p.Val58Ile) GRCh37: Chr4:2824697 GRCh38: Chr4:2822970	SH3BP2	V58I, V86I, V115I	Fibrous dysplasia of jaw, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jun 30, 2023)	criteria provided, conflicting interpretations
Select item 216168220.	NM_001122681.2(SH3BP2):c.665G>A (p.Arg222Gln) GRCh37: Chr4:2831298 GRCh38: Chr4:2829571	SH3BP2	R222Q, R250Q, R279Q	Fibrous dysplasia of jaw	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 215480021.	NM_001122681.2(SH3BP2):c.693C>T (p.Pro231=) GRCh37: Chr4:2831326 GRCh38: Chr4:2829599	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 215323922.	NM_001122681.2(SH3BP2):c.357+17G>A GRCh37: Chr4:2826474 GRCh38: Chr4:2824747	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 215277523.	NM_001122681.2(SH3BP2):c.112G>C (p.Gly38Arg) GRCh37: Chr4:2822456 GRCh38: Chr4:2820729	SH3BP2	G38R, G95R, G66R	Fibrous dysplasia of jaw	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 215247924.	NM_001122681.2(SH3BP2):c.1524G>A (p.Val508=) GRCh37: Chr4:2834752 GRCh38: Chr4:2833025	SH3BP2		Fibrous dysplasia of jaw	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 214584125.	NM_001122681.2(SH3BP2):c.1223C>T (p.Pro408Leu) GRCh37: Chr4:2831856 GRCh38: Chr4:2830129	SH3BP2	P408L, P436L, P465L	Fibrous dysplasia of jaw	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 213455526.	NM_001122681.2(SH3BP2):c.303C>T (p.Ile101=) GRCh37: Chr4:2826403 GRCh38: Chr4:2824676	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 213134427.	NM_001122681.2(SH3BP2):c.771C>T (p.Asp257=) GRCh37: Chr4:2831404 GRCh38: Chr4:2829677	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 213069928.	NM_001122681.2(SH3BP2):c.1206G>A (p.Leu402=) GRCh37: Chr4:2831839 GRCh38: Chr4:2830112	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 210938929.	NM_001122681.2(SH3BP2):c.378C>T (p.Arg126=) GRCh37: Chr4:2826873 GRCh38: Chr4:2825146	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 210872530.	NM_001122681.2(SH3BP2):c.1392C>T (p.Ser464=) GRCh37: Chr4:2833691 GRCh38: Chr4:2831964	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210473931.	NM_001122681.2(SH3BP2):c.661_710delinsAGAAGGGTG (p.Pro221fs) GRCh37: Chr4:2831294-2831343 GRCh38: Chr4:2829567-2829616	SH3BP2	P221fs, P249fs, P278fs	Fibrous dysplasia of jaw	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 209572932.	NM_001122681.2(SH3BP2):c.707C>A (p.Pro236Gln) GRCh37: Chr4:2831340 GRCh38: Chr4:2829613	SH3BP2	P236Q, P264Q, P293Q	Fibrous dysplasia of jaw	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 209413633.	NM_001122681.2(SH3BP2):c.1242-12C>T GRCh37: Chr4:2833286 GRCh38: Chr4:2831559	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 209319034.	NM_001122681.2(SH3BP2):c.567G>A (p.Pro189=) GRCh37: Chr4:2829382 GRCh38: Chr4:2827655	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 209318935.	NM_001122681.2(SH3BP2):c.783G>C (p.Pro261=) GRCh37: Chr4:2831416 GRCh38: Chr4:2829689	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 208732136.	NM_001122681.2(SH3BP2):c.517+16G>A GRCh37: Chr4:2829061 GRCh38: Chr4:2827334	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 208494937.	NM_001122681.2(SH3BP2):c.1332G>C (p.Ser444=) GRCh37: Chr4:2833388 GRCh38: Chr4:2831661	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 208348538.	NM_001122681.2(SH3BP2):c.428+16G>C GRCh37: Chr4:2826939 GRCh38: Chr4:2825212	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 207870839.	NM_001122681.2(SH3BP2):c.586+12G>A GRCh37: Chr4:2829413 GRCh38: Chr4:2827686	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 207486040.	NM_001122681.2(SH3BP2):c.963C>T (p.Ala321=) GRCh37: Chr4:2831596 GRCh38: Chr4:2829869	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 206682241.	NM_001122681.2(SH3BP2):c.643C>T (p.Pro215Ser) GRCh37: Chr4:2831276 GRCh38: Chr4:2829549	SH3BP2	P272S, P215S, P243S	Fibrous dysplasia of jaw	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 206646142.	NM_001122681.2(SH3BP2):c.1350+12C>T GRCh37: Chr4:2833418 GRCh38: Chr4:2831691	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 206645043.	NM_001122681.2(SH3BP2):c.429-15C>T GRCh37: Chr4:2828942 GRCh38: Chr4:2827215	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 206154744.	NM_001122681.2(SH3BP2):c.694G>A (p.Gly232Ser) GRCh37: Chr4:2831327 GRCh38: Chr4:2829600	SH3BP2	G289S, G260S, G232S	Inborn genetic diseases, Fibrous dysplasia of jaw	Conflicting interpretations of pathogenicity (Mar 20, 2023)	criteria provided, conflicting interpretations
Select item 205740145.	NM_001122681.2(SH3BP2):c.1084A>G (p.Ile362Val) GRCh37: Chr4:2831717 GRCh38: Chr4:2829990	SH3BP2	I390V, I362V, I419V	Fibrous dysplasia of jaw	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 205254146.	NM_001122681.2(SH3BP2):c.239+19T>C GRCh37: Chr4:2824783 GRCh38: Chr4:2823056	SH3BP2		Fibrous dysplasia of jaw	Benign (May 30, 2022)	criteria provided, single submitter
Select item 204188647.	NM_001122681.2(SH3BP2):c.1520A>G (p.Lys507Arg) GRCh37: Chr4:2834748 GRCh38: Chr4:2833021	SH3BP2	K507R, K564R, K535R	Fibrous dysplasia of jaw	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 204100548.	NM_001122681.2(SH3BP2):c.1549-15del GRCh37: Chr4:2835408 GRCh38: Chr4:2833681	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 203394249.	NM_001122681.2(SH3BP2):c.1258G>T (p.Gly420Trp) GRCh37: Chr4:2833314 GRCh38: Chr4:2831587	SH3BP2	G420W, G448W, G477W	Fibrous dysplasia of jaw	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 203053150.	NM_001122681.2(SH3BP2):c.429-18A>C GRCh37: Chr4:2828939 GRCh38: Chr4:2827212	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 201558351.	NM_001122681.2(SH3BP2):c.1371C>G (p.Val457=) GRCh37: Chr4:2833670 GRCh38: Chr4:2831943	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 201288652.	NM_001122681.2(SH3BP2):c.357+6_357+7del GRCh37: Chr4:2826463-2826464 GRCh38: Chr4:2824736-2824737	SH3BP2		Fibrous dysplasia of jaw	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 201272853.	NM_001122681.2(SH3BP2):c.1406+15C>G GRCh37: Chr4:2833720 GRCh38: Chr4:2831993	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 200051654.	NM_001122681.2(SH3BP2):c.761C>G (p.Ser254Cys) GRCh37: Chr4:2831394 GRCh38: Chr4:2829667	SH3BP2	S254C, S282C, S311C	Fibrous dysplasia of jaw	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 200025555.	NM_001122681.2(SH3BP2):c.361T>A (p.Trp121Arg) GRCh37: Chr4:2826856 GRCh38: Chr4:2825129	SH3BP2	W149R, W178R, W121R	Fibrous dysplasia of jaw	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 198959056.	NM_001122681.2(SH3BP2):c.194C>T (p.Thr65Ile) GRCh37: Chr4:2824719 GRCh38: Chr4:2822992	SH3BP2	T65I, T122I, T93I	Fibrous dysplasia of jaw	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 198851657.	NM_001122681.2(SH3BP2):c.1549-19_1549-17del GRCh37: Chr4:2835403-2835405 GRCh38: Chr4:2833676-2833678	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 198583658.	NM_001122681.2(SH3BP2):c.1589G>T (p.Ser530Ile) GRCh37: Chr4:2835464 GRCh38: Chr4:2833737	SH3BP2	S587I, S558I, S530I	Fibrous dysplasia of jaw	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 198441859.	NM_001122681.2(SH3BP2):c.357+15G>A GRCh37: Chr4:2826472 GRCh38: Chr4:2824745	SH3BP2		Fibrous dysplasia of jaw	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 198151760.	NM_001122681.2(SH3BP2):c.248G>A (p.Arg83Gln) GRCh37: Chr4:2826348 GRCh38: Chr4:2824621	SH3BP2	R111Q, R83Q, R140Q	Fibrous dysplasia of jaw	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 198125161.	NM_001122681.2(SH3BP2):c.555G>A (p.Glu185=) GRCh37: Chr4:2829370 GRCh38: Chr4:2827643	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 198059762.	NM_001122681.2(SH3BP2):c.1353G>A (p.Val451=) GRCh37: Chr4:2833652 GRCh38: Chr4:2831925	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 197330263.	NM_001122681.2(SH3BP2):c.1300C>T (p.Pro434Ser) GRCh37: Chr4:2833356 GRCh38: Chr4:2831629	SH3BP2	P434S, P462S, P491S	Fibrous dysplasia of jaw	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 197274064.	NM_001122681.2(SH3BP2):c.228T>G (p.Ser76Arg) GRCh37: Chr4:2824753 GRCh38: Chr4:2823026	SH3BP2	S133R, S76R, S104R	Fibrous dysplasia of jaw	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 197219865.	NM_001122681.2(SH3BP2):c.1108_1109delinsAG (p.Glu370Arg) GRCh37: Chr4:2831741-2831742 GRCh38: Chr4:2830014-2830015	SH3BP2	E398R, E370R, E427R	Fibrous dysplasia of jaw	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 197212966.	NM_001122681.2(SH3BP2):c.1566G>A (p.Leu522=) GRCh37: Chr4:2835441 GRCh38: Chr4:2833714	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 196469367.	NM_001122681.2(SH3BP2):c.983C>G (p.Ser328Cys) GRCh37: Chr4:2831616 GRCh38: Chr4:2829889	SH3BP2	S328C, S356C, S385C	Fibrous dysplasia of jaw	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 196448868.	NM_001122681.2(SH3BP2):c.1032A>G (p.Pro344=) GRCh37: Chr4:2831665 GRCh38: Chr4:2829938	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 195912869.	NM_001122681.2(SH3BP2):c.428+12C>A GRCh37: Chr4:2826935 GRCh38: Chr4:2825208	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 195735070.	NM_001122681.2(SH3BP2):c.330C>T (p.Phe110=) GRCh37: Chr4:2826430 GRCh38: Chr4:2824703	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 195548871.	NM_001122681.2(SH3BP2):c.1406+6C>T GRCh37: Chr4:2833711 GRCh38: Chr4:2831984	SH3BP2		Fibrous dysplasia of jaw	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 194957072.	NM_001122681.2(SH3BP2):c.789G>T (p.Arg263=) GRCh37: Chr4:2831422 GRCh38: Chr4:2829695	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 194289973.	NM_001122681.2(SH3BP2):c.814G>A (p.Ala272Thr) GRCh37: Chr4:2831447 GRCh38: Chr4:2829720	SH3BP2	A272T, A300T, A329T	Fibrous dysplasia of jaw	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 194251874.	NM_001122681.2(SH3BP2):c.462C>T (p.Gly154=) GRCh37: Chr4:2828990 GRCh38: Chr4:2827263	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 194090575.	NM_001122681.2(SH3BP2):c.586G>T (p.Asp196Tyr) GRCh37: Chr4:2829401 GRCh38: Chr4:2827674	SH3BP2	D196Y, D224Y, D253Y	Fibrous dysplasia of jaw	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 194013676.	NM_001122681.2(SH3BP2):c.1350+13G>A GRCh37: Chr4:2833419 GRCh38: Chr4:2831692	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 193249277.	NM_001122681.2(SH3BP2):c.1623C>G (p.His541Gln) GRCh37: Chr4:2835498 GRCh38: Chr4:2833771	SH3BP2	H569Q, H541Q, H598Q	Fibrous dysplasia of jaw	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 193062978.	NM_001122681.2(SH3BP2):c.143T>C (p.Leu48Pro) GRCh37: Chr4:2824668 GRCh38: Chr4:2822941	SH3BP2	L76P, L105P, L48P	Fibrous dysplasia of jaw	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 193045379.	NM_001122681.2(SH3BP2):c.749C>T (p.Ala250Val) GRCh37: Chr4:2831382 GRCh38: Chr4:2829655	SH3BP2	A278V, A250V, A307V	Fibrous dysplasia of jaw	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 192687680.	NM_001122681.2(SH3BP2):c.749_750delinsTG (p.Ala250Val) GRCh37: Chr4:2831382-2831383 GRCh38: Chr4:2829655-2829656	SH3BP2	A278V, A307V, A250V	Fibrous dysplasia of jaw	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 192531681.	NM_001122681.2(SH3BP2):c.125A>C (p.Gln42Pro) GRCh37: Chr4:2822469 GRCh38: Chr4:2820742	SH3BP2	Q99P, Q70P, Q42P	Fibrous dysplasia of jaw	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 192136382.	NM_001122681.2(SH3BP2):c.453C>T (p.Ser151=) GRCh37: Chr4:2828981 GRCh38: Chr4:2827254	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 192015983.	NM_001122681.2(SH3BP2):c.1342T>C (p.Tyr448His) GRCh37: Chr4:2833398 GRCh38: Chr4:2831671	SH3BP2	Y448H, Y476H, Y505H	Fibrous dysplasia of jaw	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 191384684.	NM_001122681.2(SH3BP2):c.205C>T (p.Pro69Ser) GRCh37: Chr4:2824730 GRCh38: Chr4:2823003	SH3BP2	P69S, P97S, P126S	Fibrous dysplasia of jaw	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 190884185.	NM_001122681.2(SH3BP2):c.432C>G (p.Asp144Glu) GRCh37: Chr4:2828960 GRCh38: Chr4:2827233	SH3BP2	D144E, D172E, D201E	Inborn genetic diseases, Fibrous dysplasia of jaw	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 190277386.	NM_001122681.2(SH3BP2):c.1172C>T (p.Pro391Leu) GRCh37: Chr4:2831805 GRCh38: Chr4:2830078	SH3BP2	P419L, P391L, P448L	Fibrous dysplasia of jaw	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 189946987.	NM_001122681.2(SH3BP2):c.573C>G (p.Pro191=) GRCh37: Chr4:2829388 GRCh38: Chr4:2827661	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 189907188.	NM_001122681.2(SH3BP2):c.882C>G (p.Pro294=) GRCh37: Chr4:2831515 GRCh38: Chr4:2829788	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 172087989.	NM_001122681.2(SH3BP2):c.908C>T (p.Pro303Leu) GRCh37: Chr4:2831541 GRCh38: Chr4:2829814	SH3BP2	P303L, P331L, P360L	Fibrous dysplasia of jaw	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 172054790.	NM_001122681.2(SH3BP2):c.808G>A (p.Val270Ile) GRCh37: Chr4:2831441 GRCh38: Chr4:2829714	SH3BP2	V270I, V298I, V327I	Fibrous dysplasia of jaw	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 172014091.	NM_001122681.2(SH3BP2):c.1445A>G (p.Asp482Gly) GRCh37: Chr4:2834096 GRCh38: Chr4:2832369	SH3BP2	D482G, D510G, D539G	Fibrous dysplasia of jaw	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 171723292.	NM_001122681.2(SH3BP2):c.8C>T (p.Ala3Val) GRCh37: Chr4:2822352 GRCh38: Chr4:2820625	SH3BP2	A31V, A3V, A60V	Fibrous dysplasia of jaw	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 171605093.	NM_001122681.2(SH3BP2):c.1436A>G (p.Glu479Gly) GRCh37: Chr4:2834087 GRCh38: Chr4:2832360	SH3BP2	E479G, E507G, E536G	Fibrous dysplasia of jaw	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 167168494.	NM_001122681.2(SH3BP2):c.762C>T (p.Ser254=) GRCh37: Chr4:2831395 GRCh38: Chr4:2829668	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Jan 14, 2021)	criteria provided, single submitter
Select item 167135695.	NM_001122681.2(SH3BP2):c.587-11T>C GRCh37: Chr4:2831209 GRCh38: Chr4:2829482	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 167092596.	NM_001122681.2(SH3BP2):c.1623C>T (p.His541=) GRCh37: Chr4:2835498 GRCh38: Chr4:2833771	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 166709697.	NM_001122681.2(SH3BP2):c.1489-16C>T GRCh37: Chr4:2834701 GRCh38: Chr4:2832974	SH3BP2		Fibrous dysplasia of jaw	Benign (Oct 8, 2022)	criteria provided, single submitter
Select item 166353098.	NM_001122681.2(SH3BP2):c.1221G>A (p.Lys407=) GRCh37: Chr4:2831854 GRCh38: Chr4:2830127	SH3BP2		Fibrous dysplasia of jaw	Likely benign (May 31, 2021)	criteria provided, single submitter
Select item 166176699.	NM_001122681.2(SH3BP2):c.1407-12_1407-11del GRCh37: Chr4:2834045-2834046 GRCh38: Chr4:2832318-2832319	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 1655489100.	NM_001122681.2(SH3BP2):c.765G>A (p.Lys255=) GRCh37: Chr4:2831398 GRCh38: Chr4:2829671	SH3BP2		Fibrous dysplasia of jaw	Likely benign (Nov 11, 2021)	criteria provided, single submitter

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