ClinVar for MedGen (Select 78695) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 325

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24231201.	NC_000012.11:g.(?_56396006)_(56396524_?)del GRCh37: Chr12:56396006-56396524	SUOX		Sulfite oxidase deficiency	Pathogenic (Aug 14, 2022)	criteria provided, single submitter
Select item 24206052.	NM_001032386.2(SUOX):c.777A>G (p.Thr259=) GRCh37: Chr12:56397950 GRCh38: Chr12:56004166	SUOX		Sulfite oxidase deficiency	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 21991513.	NM_001032386.2(SUOX):c.1013G>A (p.Arg338Gln) GRCh37: Chr12:56398186 GRCh38: Chr12:56004402	SUOX	R338Q	Sulfite oxidase deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 21976124.	NM_001032386.2(SUOX):c.1548T>C (p.Asn516=) GRCh37: Chr12:56398721 GRCh38: Chr12:56004937	SUOX		Sulfite oxidase deficiency	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 21958285.	NM_001032386.2(SUOX):c.571del (p.Gln191fs) GRCh37: Chr12:56397743 GRCh38: Chr12:56003959	SUOX	Q191fs	Sulfite oxidase deficiency	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 21956916.	NM_001032386.2(SUOX):c.673C>G (p.Leu225Val) GRCh37: Chr12:56397846 GRCh38: Chr12:56004062	SUOX	L225V	SUOX-related condition, Sulfite oxidase deficiency, Inborn genetic diseases	Uncertain significance (Jun 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21898607.	NM_001032386.2(SUOX):c.1413G>A (p.Gln471=) GRCh37: Chr12:56398586 GRCh38: Chr12:56004802	SUOX		Sulfite oxidase deficiency	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 21897318.	NM_001032386.2(SUOX):c.599_600del (p.Pro200fs) GRCh37: Chr12:56397772-56397773 GRCh38: Chr12:56003988-56003989	SUOX	P200fs	Sulfite oxidase deficiency	Pathogenic (Jul 29, 2022)	criteria provided, single submitter
Select item 21892179.	NM_001032386.2(SUOX):c.945C>T (p.His315=) GRCh37: Chr12:56398118 GRCh38: Chr12:56004334	SUOX		Sulfite oxidase deficiency	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 218588110.	NM_001032386.2(SUOX):c.806G>A (p.Arg269His) GRCh37: Chr12:56397979 GRCh38: Chr12:56004195	SUOX	R269H	Sulfite oxidase deficiency	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 218554811.	NM_001032386.2(SUOX):c.1127G>A (p.Arg376His) GRCh37: Chr12:56398300 GRCh38: Chr12:56004516	SUOX	R376H	Sulfite oxidase deficiency	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 218453712.	NM_001032386.2(SUOX):c.50+18A>G GRCh37: Chr12:56396073 GRCh38: Chr12:56002289	SUOX		Sulfite oxidase deficiency	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 218136913.	NM_001032386.2(SUOX):c.795C>T (p.Ala265=) GRCh37: Chr12:56397968 GRCh38: Chr12:56004184	SUOX		Sulfite oxidase deficiency	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 218027514.	NM_001032386.2(SUOX):c.628C>T (p.Pro210Ser) GRCh37: Chr12:56397801 GRCh38: Chr12:56004017	SUOX	P210S	Sulfite oxidase deficiency	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 217575715.	NM_001032386.2(SUOX):c.1619A>G (p.His540Arg) GRCh37: Chr12:56398792 GRCh38: Chr12:56005008	SUOX	H540R	Sulfite oxidase deficiency, Inborn genetic diseases	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217009316.	NM_001032386.2(SUOX):c.393T>G (p.Gly131=) GRCh37: Chr12:56397566 GRCh38: Chr12:56003782	SUOX		Sulfite oxidase deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 216808617.	NM_001032386.2(SUOX):c.248A>C (p.His83Pro) GRCh37: Chr12:56397421 GRCh38: Chr12:56003637	SUOX	H83P	Sulfite oxidase deficiency	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 216647118.	NM_001032386.2(SUOX):c.1564G>A (p.Val522Met) GRCh37: Chr12:56398737 GRCh38: Chr12:56004953	SUOX	V522M	Inborn genetic diseases, Sulfite oxidase deficiency	Uncertain significance (Jan 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216457119.	NM_001032386.2(SUOX):c.1109del (p.Pro370fs) GRCh37: Chr12:56398281 GRCh38: Chr12:56004497	SUOX	P370fs	Sulfite oxidase deficiency	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 216092620.	NM_001032386.2(SUOX):c.768C>T (p.Tyr256=) GRCh37: Chr12:56397941 GRCh38: Chr12:56004157	SUOX		Sulfite oxidase deficiency	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 215989321.	NM_001032386.2(SUOX):c.179C>T (p.Thr60Ile) GRCh37: Chr12:56396455 GRCh38: Chr12:56002671	SUOX	T60I	Inborn genetic diseases, Sulfite oxidase deficiency	Uncertain significance (Jun 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215666522.	NM_001032386.2(SUOX):c.1393G>A (p.Asp465Asn) GRCh37: Chr12:56398566 GRCh38: Chr12:56004782	SUOX	D465N	Sulfite oxidase deficiency	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 214838723.	NM_001032386.2(SUOX):c.147C>T (p.Asn49=) GRCh37: Chr12:56396423 GRCh38: Chr12:56002639	SUOX		Sulfite oxidase deficiency	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 213737724.	NM_001032386.2(SUOX):c.1136A>G (p.Lys379Arg) GRCh37: Chr12:56398309 GRCh38: Chr12:56004525	SUOX	K379R	Sulfite oxidase deficiency	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 213288725.	NM_001032386.2(SUOX):c.849G>A (p.Trp283Ter) GRCh37: Chr12:56398022 GRCh38: Chr12:56004238	SUOX	W283*	Sulfite oxidase deficiency	Pathogenic (May 3, 2022)	criteria provided, single submitter
Select item 213024526.	NM_001032386.2(SUOX):c.1428T>A (p.Asp476Glu) GRCh37: Chr12:56398601 GRCh38: Chr12:56004817	SUOX	D476E	Sulfite oxidase deficiency	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 212405827.	NM_001032386.2(SUOX):c.141dup (p.Asp48Ter) GRCh37: Chr12:56396416-56396417 GRCh38: Chr12:56002632-56002633	SUOX	D48*	Sulfite oxidase deficiency	Pathogenic (Apr 10, 2022)	criteria provided, single submitter
Select item 211610928.	NM_001032386.2(SUOX):c.194G>A (p.Gly65Asp) GRCh37: Chr12:56396470 GRCh38: Chr12:56002686	SUOX	G65D	Sulfite oxidase deficiency	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 210927829.	NM_001032386.2(SUOX):c.881C>A (p.Ala294Asp) GRCh37: Chr12:56398054 GRCh38: Chr12:56004270	SUOX	A294D	Sulfite oxidase deficiency	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 210862830.	NM_001032386.2(SUOX):c.972C>A (p.Asp324Glu) GRCh37: Chr12:56398145 GRCh38: Chr12:56004361	SUOX	D324E	Sulfite oxidase deficiency	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 210531731.	NM_001032386.2(SUOX):c.1484C>G (p.Ala495Gly) GRCh37: Chr12:56398657 GRCh38: Chr12:56004873	SUOX	A495G	Sulfite oxidase deficiency	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 210392932.	NM_001032386.2(SUOX):c.1116G>C (p.Val372=) GRCh37: Chr12:56398289 GRCh38: Chr12:56004505	SUOX		Sulfite oxidase deficiency	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 210178833.	NM_001032386.2(SUOX):c.1533G>T (p.Val511=) GRCh37: Chr12:56398706 GRCh38: Chr12:56004922	SUOX		Sulfite oxidase deficiency	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 209740334.	NM_001032386.2(SUOX):c.1006C>T (p.Leu336=) GRCh37: Chr12:56398179 GRCh38: Chr12:56004395	SUOX		Sulfite oxidase deficiency	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 209720735.	NM_001032386.2(SUOX):c.1268T>C (p.Leu423Pro) GRCh37: Chr12:56398441 GRCh38: Chr12:56004657	SUOX	L423P	Sulfite oxidase deficiency	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 209141536.	NM_001032386.2(SUOX):c.619T>G (p.Tyr207Asp) GRCh37: Chr12:56397792 GRCh38: Chr12:56004008	SUOX	Y207D	Sulfite oxidase deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 208905637.	NM_001032386.2(SUOX):c.884G>C (p.Gly295Ala) GRCh37: Chr12:56398057 GRCh38: Chr12:56004273	SUOX	G295A	Sulfite oxidase deficiency	Uncertain significance (Jan 22, 2022)	criteria provided, single submitter
Select item 208780738.	NM_001032386.2(SUOX):c.1209C>G (p.Phe403Leu) GRCh37: Chr12:56398382 GRCh38: Chr12:56004598	SUOX	F403L	Sulfite oxidase deficiency	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 208508439.	NM_001032386.2(SUOX):c.282C>G (p.Thr94=) GRCh37: Chr12:56397455 GRCh38: Chr12:56003671	SUOX		Sulfite oxidase deficiency	Likely benign (May 23, 2022)	criteria provided, single submitter
Select item 208281640.	NM_001032386.2(SUOX):c.1426G>C (p.Asp476His) GRCh37: Chr12:56398599 GRCh38: Chr12:56004815	SUOX	D476H	Sulfite oxidase deficiency	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 206243641.	NM_001032386.2(SUOX):c.786G>A (p.Leu262=) GRCh37: Chr12:56397959 GRCh38: Chr12:56004175	SUOX		Sulfite oxidase deficiency	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 204725842.	NM_001032386.2(SUOX):c.1124C>A (p.Ala375Asp) GRCh37: Chr12:56398297 GRCh38: Chr12:56004513	SUOX	A375D	Sulfite oxidase deficiency	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 204579143.	NM_001032386.2(SUOX):c.751C>T (p.His251Tyr) GRCh37: Chr12:56397924 GRCh38: Chr12:56004140	SUOX	H251Y	Inborn genetic diseases, Sulfite oxidase deficiency	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 203007444.	NM_001032386.2(SUOX):c.1188A>G (p.Gln396=) GRCh37: Chr12:56398361 GRCh38: Chr12:56004577	SUOX		Sulfite oxidase deficiency	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 202394245.	NM_001032386.2(SUOX):c.228+9G>C GRCh37: Chr12:56396513 GRCh38: Chr12:56002729	SUOX		Sulfite oxidase deficiency	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 202059846.	NM_001032386.2(SUOX):c.693C>T (p.Arg231=) GRCh37: Chr12:56397866 GRCh38: Chr12:56004082	SUOX		Sulfite oxidase deficiency	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 201600847.	NM_001032386.2(SUOX):c.483T>A (p.Asn161Lys) GRCh37: Chr12:56397656 GRCh38: Chr12:56003872	SUOX	N161K	Sulfite oxidase deficiency	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 201505648.	NM_001032386.2(SUOX):c.1348_1349inv (p.Trp450Gln) GRCh37: Chr12:56398521-56398522 GRCh38: Chr12:56004737-56004738	SUOX	W450Q	Sulfite oxidase deficiency	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 201365249.	NM_001032386.2(SUOX):c.1281_1282inv (p.Ala428Pro) GRCh37: Chr12:56398454-56398455 GRCh38: Chr12:56004670-56004671	SUOX	A428P	Sulfite oxidase deficiency	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 200973450.	NM_001032386.2(SUOX):c.1135A>C (p.Lys379Gln) GRCh37: Chr12:56398308 GRCh38: Chr12:56004524	SUOX	K379Q	Sulfite oxidase deficiency	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 200949751.	NM_001032386.2(SUOX):c.29T>C (p.Leu10Pro) GRCh37: Chr12:56396034 GRCh38: Chr12:56002250	SUOX	L10P	Sulfite oxidase deficiency	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 200543252.	NM_001032386.2(SUOX):c.1585C>T (p.Arg529Ter) GRCh37: Chr12:56398758 GRCh38: Chr12:56004974	SUOX	R529*	Sulfite oxidase deficiency	Likely pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 199984553.	NM_001032386.2(SUOX):c.806G>C (p.Arg269Pro) GRCh37: Chr12:56397979 GRCh38: Chr12:56004195	SUOX	R269P	Sulfite oxidase deficiency	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 199700954.	NM_001032386.2(SUOX):c.347A>C (p.Asp116Ala) GRCh37: Chr12:56397520 GRCh38: Chr12:56003736	SUOX	D116A	Sulfite oxidase deficiency	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 199278655.	NM_001032386.2(SUOX):c.253T>C (p.Tyr85His) GRCh37: Chr12:56397426 GRCh38: Chr12:56003642	SUOX	Y85H	Sulfite oxidase deficiency	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 199166156.	NM_001032386.2(SUOX):c.819T>C (p.Thr273=) GRCh37: Chr12:56397992 GRCh38: Chr12:56004208	SUOX		Sulfite oxidase deficiency	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 198364257.	NM_001032386.2(SUOX):c.51-10T>A GRCh37: Chr12:56396317 GRCh38: Chr12:56002533	SUOX		Sulfite oxidase deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 198088658.	NM_001032386.2(SUOX):c.872C>T (p.Ala291Val) GRCh37: Chr12:56398045 GRCh38: Chr12:56004261	SUOX	A291V	Sulfite oxidase deficiency	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 197736059.	NM_001032386.2(SUOX):c.530C>G (p.Ala177Gly) GRCh37: Chr12:56397703 GRCh38: Chr12:56003919	SUOX	A177G	Sulfite oxidase deficiency	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 196417360.	NM_001032386.2(SUOX):c.431A>G (p.Asn144Ser) GRCh37: Chr12:56397604 GRCh38: Chr12:56003820	SUOX	N144S	Sulfite oxidase deficiency	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 196117661.	NM_001032386.2(SUOX):c.1491G>C (p.Val497=) GRCh37: Chr12:56398664 GRCh38: Chr12:56004880	SUOX		Sulfite oxidase deficiency	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 196108862.	NM_001032386.2(SUOX):c.363G>A (p.Gly121=) GRCh37: Chr12:56397536 GRCh38: Chr12:56003752	SUOX		Sulfite oxidase deficiency	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 195806563.	NM_001032386.2(SUOX):c.1554G>A (p.Gln518=) GRCh37: Chr12:56398727 GRCh38: Chr12:56004943	SUOX		Sulfite oxidase deficiency	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 194360864.	NM_001032386.2(SUOX):c.1620T>C (p.His540=) GRCh37: Chr12:56398793 GRCh38: Chr12:56005009	SUOX		Sulfite oxidase deficiency	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 193789765.	NM_001032386.2(SUOX):c.1056G>A (p.Met352Ile) GRCh37: Chr12:56398229 GRCh38: Chr12:56004445	SUOX	M352I	Sulfite oxidase deficiency	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 192267166.	NM_001032386.2(SUOX):c.288T>C (p.Pro96=) GRCh37: Chr12:56397461 GRCh38: Chr12:56003677	SUOX		Sulfite oxidase deficiency	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 192147967.	NM_001032386.2(SUOX):c.156C>G (p.Thr52=) GRCh37: Chr12:56396432 GRCh38: Chr12:56002648	SUOX		Sulfite oxidase deficiency	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 191492868.	NM_001032386.2(SUOX):c.161G>A (p.Gly54Glu) GRCh37: Chr12:56396437 GRCh38: Chr12:56002653	SUOX	G54E	Sulfite oxidase deficiency	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 189770969.	NM_001032386.2(SUOX):c.1461A>G (p.Ala487=) GRCh37: Chr12:56398634 GRCh38: Chr12:56004850	SUOX		Sulfite oxidase deficiency	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 189656970.	NM_001032386.2(SUOX):c.1202A>G (p.Lys401Arg) GRCh37: Chr12:56398375 GRCh38: Chr12:56004591	SUOX	K401R	Sulfite oxidase deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 181183771.	NM_001032386.2(SUOX):c.352C>T (p.His118Tyr) GRCh37: Chr12:56397525 GRCh38: Chr12:56003741	SUOX	H118Y	Inborn genetic diseases, not specified, Sulfite oxidase deficiency	Uncertain significance (Dec 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172113872.	NM_001032386.2(SUOX):c.868A>G (p.Thr290Ala) GRCh37: Chr12:56398041 GRCh38: Chr12:56004257	SUOX	T290A	Sulfite oxidase deficiency	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 171758673.	NM_001032386.2(SUOX):c.1156G>A (p.Val386Met) GRCh37: Chr12:56398329 GRCh38: Chr12:56004545	SUOX	V386M	Sulfite oxidase deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 171606474.	NM_001032386.2(SUOX):c.413C>T (p.Ala138Val) GRCh37: Chr12:56397586 GRCh38: Chr12:56003802	SUOX	A138V	Sulfite oxidase deficiency	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 168773375.	NM_001032386.2(SUOX):c.905T>G (p.Leu302Ter) GRCh37: Chr12:56398078 GRCh38: Chr12:56004294	SUOX	L302*	Sulfite oxidase deficiency	Pathogenic (Oct 28, 2021)	no assertion criteria provided
Select item 167407976.	NM_001032386.2(SUOX):c.1005T>C (p.Pro335=) GRCh37: Chr12:56398178 GRCh38: Chr12:56004394	SUOX		Sulfite oxidase deficiency	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 167225177.	NM_001032386.2(SUOX):c.1038C>T (p.Val346=) GRCh37: Chr12:56398211 GRCh38: Chr12:56004427	SUOX		Sulfite oxidase deficiency	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 166848778.	NM_001032386.2(SUOX):c.1044G>A (p.Leu348=) GRCh37: Chr12:56398217 GRCh38: Chr12:56004433	SUOX		Sulfite oxidase deficiency	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 164061779.	NM_001032386.2(SUOX):c.375G>C (p.Leu125=) GRCh37: Chr12:56397548 GRCh38: Chr12:56003764	SUOX		Sulfite oxidase deficiency	Likely benign (Jun 5, 2021)	criteria provided, single submitter
Select item 163405180.	NM_001032386.2(SUOX):c.1512G>A (p.Leu504=) GRCh37: Chr12:56398685 GRCh38: Chr12:56004901	SUOX		Sulfite oxidase deficiency	Likely benign (May 3, 2021)	criteria provided, single submitter
Select item 163253581.	NM_001032386.2(SUOX):c.51-7C>T GRCh37: Chr12:56396320 GRCh38: Chr12:56002536	SUOX		Sulfite oxidase deficiency	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 162607082.	NM_001032386.2(SUOX):c.270G>C (p.Val90=) GRCh37: Chr12:56397443 GRCh38: Chr12:56003659	SUOX		Sulfite oxidase deficiency	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 162416683.	NM_001032386.2(SUOX):c.1281G>A (p.Ser427=) GRCh37: Chr12:56398454 GRCh38: Chr12:56004670	SUOX		Sulfite oxidase deficiency	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 161166684.	NM_001032386.2(SUOX):c.1605C>G (p.Ala535=) GRCh37: Chr12:56398778 GRCh38: Chr12:56004994	SUOX		Sulfite oxidase deficiency	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 160763685.	NM_001032386.2(SUOX):c.50+9G>T GRCh37: Chr12:56396064 GRCh38: Chr12:56002280	SUOX		Sulfite oxidase deficiency	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 160722586.	NM_001032386.2(SUOX):c.50+20G>C GRCh37: Chr12:56396075 GRCh38: Chr12:56002291	SUOX		Sulfite oxidase deficiency	Likely benign (Sep 27, 2021)	criteria provided, single submitter
Select item 160518987.	NM_001032386.2(SUOX):c.1467T>C (p.Arg489=) GRCh37: Chr12:56398640 GRCh38: Chr12:56004856	SUOX		Sulfite oxidase deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 159133588.	NM_001032386.2(SUOX):c.552A>G (p.Pro184=) GRCh37: Chr12:56397725 GRCh38: Chr12:56003941	SUOX		Sulfite oxidase deficiency	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 158923889.	NM_001032386.2(SUOX):c.1563C>T (p.Thr521=) GRCh37: Chr12:56398736 GRCh38: Chr12:56004952	SUOX		Sulfite oxidase deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 158431590.	NM_001032386.2(SUOX):c.51-16C>T GRCh37: Chr12:56396311 GRCh38: Chr12:56002527	SUOX		Sulfite oxidase deficiency	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 158416091.	NM_001032386.2(SUOX):c.396C>G (p.Pro132=) GRCh37: Chr12:56397569 GRCh38: Chr12:56003785	SUOX		Sulfite oxidase deficiency	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 158318792.	NM_001032386.2(SUOX):c.450G>A (p.Glu150=) GRCh37: Chr12:56397623 GRCh38: Chr12:56003839	SUOX		Sulfite oxidase deficiency	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 157611893.	NM_001032386.2(SUOX):c.1320A>C (p.Ser440=) GRCh37: Chr12:56398493 GRCh38: Chr12:56004709	SUOX		Sulfite oxidase deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 157582694.	NM_001032386.2(SUOX):c.229-13_229-11del GRCh37: Chr12:56397389-56397391 GRCh38: Chr12:56003605-56003607	SUOX		Sulfite oxidase deficiency	Likely benign (Aug 3, 2021)	criteria provided, single submitter
Select item 157278495.	NM_001032386.2(SUOX):c.229-15C>T GRCh37: Chr12:56397387 GRCh38: Chr12:56003603	SUOX		Sulfite oxidase deficiency	Likely benign (Nov 3, 2021)	criteria provided, single submitter
Select item 157219396.	NM_001032386.2(SUOX):c.300C>T (p.Ile100=) GRCh37: Chr12:56397473 GRCh38: Chr12:56003689	SUOX		Sulfite oxidase deficiency	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 156976997.	NM_001032386.2(SUOX):c.294T>C (p.Thr98=) GRCh37: Chr12:56397467 GRCh38: Chr12:56003683	SUOX		Sulfite oxidase deficiency	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 156967698.	NM_001032386.2(SUOX):c.1329G>A (p.Val443=) GRCh37: Chr12:56398502 GRCh38: Chr12:56004718	SUOX		Sulfite oxidase deficiency	Likely benign (Oct 6, 2021)	criteria provided, single submitter
Select item 156704299.	NM_001032386.2(SUOX):c.441T>C (p.His147=) GRCh37: Chr12:56397614 GRCh38: Chr12:56003830	SUOX		Sulfite oxidase deficiency	Likely benign (Jun 18, 2021)	criteria provided, single submitter
Select item 1559977100.	NM_001032386.2(SUOX):c.315C>A (p.Gly105=) GRCh37: Chr12:56397488 GRCh38: Chr12:56003704	SUOX		Sulfite oxidase deficiency	Likely benign (May 18, 2021)	criteria provided, single submitter

<< First< Prev

Page of 4