Mocs2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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381 records found for search term Mocs2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11666795	CV304203	single nucleotide variant	NM_004531.5(MOCS2):c.*44A>C	Combined molybdoflavoprotein enzyme deficiency [RCV000381148]\|Platelet-type bleeding disorder 9 [RCV000386161]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154473]	likely benign\|uncertain significance	5	53098558	53098558	Human	4	name
11606119	CV304529	single nucleotide variant	NM_176806.3(MOCS2):c.-37T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000327642]	uncertain significance	5	53109766	53109766	Human	1	name
28895957	CV894512	single nucleotide variant	NM_004531.5(MOCS2):c.*32C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154474]	uncertain significance	5	53098570	53098570	Human	1	name
126736101	CV1000486	single nucleotide variant	NM_004531.5(MOCS2):c.-625G>C	not provided [RCV001311651]	conflicting interpretations of pathogenicity\|uncertain significance	5	53109706	53109706	Human		name
127278720	CV1072827	single nucleotide variant	NM_004531.5(MOCS2):c.98+7G>A	not provided [RCV001408648]	likely benign	5	53107070	53107070	Human		name
150490854	CV1280007	single nucleotide variant	NM_004531.5(MOCS2):c.-521A>T	not provided [RCV001716545]	benign	5	53109602	53109602	Human		name
151812479	CV1367503	single nucleotide variant	NM_004531.5(MOCS2):c.-620C>T	not provided [RCV001878410]	likely benign\|uncertain significance	5	53109701	53109701	Human		name
151878495	CV1409812	single nucleotide variant	NM_004531.5(MOCS2):c.-628A>G	not provided [RCV001940694]	uncertain significance	5	53109709	53109709	Human		name
151870879	CV1476928	single nucleotide variant	NM_004531.5(MOCS2):c.-625G>A	not provided [RCV001906459]	uncertain significance	5	53109706	53109706	Human		name
152104949	CV1536604	single nucleotide variant	NM_004531.5(MOCS2):c.98+8A>T	not provided [RCV002173587]	likely benign	5	53107069	53107069	Human		name
152066797	CV1662451	single nucleotide variant	NM_004531.5(MOCS2):c.-620C>A	not provided [RCV002091028]	likely benign	5	53109701	53109701	Human		name
156013194	CV2123039	single nucleotide variant	NM_176806.4(MOCS2):c.18+1G>A	not provided [RCV002975758]	likely pathogenic	5	53109711	53109711	Human		name
156247866	CV2168783	single nucleotide variant	NM_004531.5(MOCS2):c.99-2A>G	Combined molybdoflavoprotein enzyme deficiency [RCV004700890]\|not provided [RCV003026237]	likely pathogenic	5	53102226	53102226	Human	2	name
401860414	CV2750229	single nucleotide variant	NM_176806.4(MOCS2):c.18+1G>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV003333678]	likely pathogenic	5	53109711	53109711	Human	1	name
401917685	CV2827759	single nucleotide variant	NM_004531.5(MOCS2):c.*371C>T	not provided [RCV003429636]	benign	5	53098231	53098231	Human		name
405240062	CV2882578	single nucleotide variant	NM_176806.4(MOCS2):c.18+2T>A	not provided [RCV003557142]	likely pathogenic	5	53109710	53109710	Human		name
402520671	CV2940083	single nucleotide variant	NM_004531.5(MOCS2):c.-619G>T	not provided [RCV003663281]	likely benign	5	53109700	53109700	Human		name
405241996	CV2970967	single nucleotide variant	NM_004531.5(MOCS2):c.99-8A>C	not provided [RCV003684252]	likely benign	5	53102232	53102232	Human		name
405188575	CV2974092	single nucleotide variant	NM_004531.5(MOCS2):c.-611G>T	not provided [RCV003676915]	likely benign	5	53109692	53109692	Human		name
405205753	CV2997829	single nucleotide variant	NM_004531.5(MOCS2):c.-618G>A	not provided [RCV003678711]	likely benign	5	53109699	53109699	Human		name
11590574	CV299985	single nucleotide variant	NM_004531.5(MOCS2):c.*372G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000320281]	uncertain significance	5	53098230	53098230	Human	1	name
405115178	CV3019231	single nucleotide variant	NM_004531.5(MOCS2):c.-617G>T	not provided [RCV003700115]	likely benign	5	53109698	53109698	Human		name
11659663	CV304190	single nucleotide variant	NM_004531.5(MOCS2):c.*532G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000359962]	uncertain significance	5	53098070	53098070	Human	1	name
11665372	CV304191	deletion	NM_004531.5(MOCS2):c.*413del	Combined molybdoflavoprotein enzyme deficiency [RCV000267699]\|Platelet-type bleeding disorder 9 [RCV000388960]\|not provided [RCV001718760]	benign\|likely benign	5	53098189	53098189	Human	3	name
11665508	CV304201	single nucleotide variant	NM_004531.5(MOCS2):c.*321A>G	Combined molybdoflavoprotein enzyme deficiency [RCV000377223]\|Platelet-type bleeding disorder 9 [RCV000276645]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154470]	benign\|likely benign\|uncertain significance	5	53098281	53098281	Human	4	name
11665716	CV304202	single nucleotide variant	NM_004531.5(MOCS2):c.*171G>C	Combined molybdoflavoprotein enzyme deficiency [RCV000289879]\|Platelet-type bleeding disorder 9 [RCV000331679]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154471]	likely benign\|uncertain significance	5	53098431	53098431	Human	4	name
11611211	CV304214	single nucleotide variant	NM_004531.5(MOCS2):c.-622G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000391666]\|not provided [RCV001516585]	benign\|uncertain significance	5	53109703	53109703	Human	1	name
11599451	CV304215	single nucleotide variant	NM_004531.5(MOCS2):c.-664C>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000265542]	uncertain significance	5	53109745	53109745	Human	1	name
11606199	CV304523	single nucleotide variant	NM_004531.5(MOCS2):c.*143G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000328524]	uncertain significance	5	53098459	53098459	Human	1	name
597866295	CV3802749	single nucleotide variant	NM_004531.5(MOCS2):c.-619G>A	not provided [RCV005147536]	likely benign	5	53109700	53109700	Human		name
28875952	CV858725	single nucleotide variant	NM_176806.4(MOCS2):c.18+1G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001090122]	uncertain significance	5	53109711	53109711	Human	1	name
28901841	CV894502	single nucleotide variant	NM_004531.5(MOCS2):c.*876T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156873]	uncertain significance	5	53097726	53097726	Human	1	name
28901842	CV894503	single nucleotide variant	NM_004531.5(MOCS2):c.*837T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156874]\|not provided [RCV004694997]	uncertain significance	5	53097765	53097765	Human	1	name
28901844	CV894504	single nucleotide variant	NM_004531.5(MOCS2):c.*735G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156875]\|not provided [RCV004716707]	benign	5	53097867	53097867	Human	1	name
28887401	CV894505	single nucleotide variant	NM_004531.5(MOCS2):c.*722T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151441]	uncertain significance	5	53097880	53097880	Human	1	name
28887406	CV894506	single nucleotide variant	NM_004531.5(MOCS2):c.*673A>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151442]	uncertain significance	5	53097929	53097929	Human	1	name
28887407	CV894507	single nucleotide variant	NM_004531.5(MOCS2):c.*651G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151443]	uncertain significance	5	53097951	53097951	Human	1	name
28887410	CV894508	single nucleotide variant	NM_004531.5(MOCS2):c.*566C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151444]\|not provided [RCV004716683]	benign	5	53098036	53098036	Human	1	name
28887415	CV894509	single nucleotide variant	NM_004531.5(MOCS2):c.*518C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151445]	uncertain significance	5	53098084	53098084	Human	1	name
28895948	CV894510	single nucleotide variant	NM_004531.5(MOCS2):c.*344C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154469]	uncertain significance	5	53098258	53098258	Human	1	name
28895954	CV894511	single nucleotide variant	NM_004531.5(MOCS2):c.*122G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154472]	uncertain significance	5	53098480	53098480	Human	1	name
127316709	CV1115949	single nucleotide variant	NM_004531.5(MOCS2):c.502-7T>G	not provided [RCV001465612]	likely benign	5	53098674	53098674	Human		name
150437726	CV1201299	single nucleotide variant	NM_004531.5(MOCS2):c.377+1G>A	not provided [RCV001583111]	pathogenic\|likely pathogenic	5	53101358	53101358	Human		name
151843173	CV1379839	single nucleotide variant	NM_004531.5(MOCS2):c.501+4A>G	not provided [RCV001936365]	uncertain significance	5	53100407	53100407	Human		name
152097411	CV1534241	single nucleotide variant	NM_004531.5(MOCS2):c.501+7T>A	not provided [RCV002095036]	likely benign	5	53100404	53100404	Human		name
152043823	CV1552097	single nucleotide variant	NM_004531.5(MOCS2):c.98+17T>A	not provided [RCV002166038]	likely benign	5	53107060	53107060	Human		name
152173940	CV1567420	single nucleotide variant	NM_004531.5(MOCS2):c.226+9T>C	not provided [RCV002144279]	likely benign	5	53102088	53102088	Human		name
152080600	CV1580048	single nucleotide variant	NM_004531.5(MOCS2):c.378-7G>A	not provided [RCV002076314]	likely benign	5	53100541	53100541	Human		name
152063834	CV1606525	single nucleotide variant	NM_004531.5(MOCS2):c.98+13T>A	not provided [RCV002209038]	likely benign	5	53107064	53107064	Human		name
156362972	CV1900761	single nucleotide variant	NM_004531.5(MOCS2):c.99-14T>C	not provided [RCV002581858]	likely benign	5	53102238	53102238	Human		name
156268622	CV2008040	single nucleotide variant	NM_004531.5(MOCS2):c.502-7T>A	not provided [RCV002714903]	likely benign	5	53098674	53098674	Human		name
155902589	CV2151685	single nucleotide variant	NM_004531.5(MOCS2):c.377+5G>C	not provided [RCV003011726]	uncertain significance	5	53101354	53101354	Human		name
404986632	CV2852528	single nucleotide variant	NM_004531.5(MOCS2):c.377+4T>C	not specified [RCV003489743]	uncertain significance	5	53101355	53101355	Human		name
402493924	CV2863339	deletion	NM_004531.5(MOCS2):c.-47-6del	not provided [RCV003573205]	benign	5	53107227	53107227	Human		name
405208833	CV2919810	single nucleotide variant	NM_004531.5(MOCS2):c.98+17T>C	not provided [RCV003566866]	likely benign	5	53107060	53107060	Human		name
405127978	CV2957203	single nucleotide variant	NM_004531.5(MOCS2):c.98+14G>A	not provided [RCV003672143]	likely benign	5	53107063	53107063	Human		name
405219719	CV2969491	single nucleotide variant	NM_004531.5(MOCS2):c.-47-9C>T	not provided [RCV003680494]	likely benign	5	53107230	53107230	Human		name
402521464	CV3005044	single nucleotide variant	NM_004531.5(MOCS2):c.-47-6C>G	not provided [RCV003690329]	likely benign	5	53107227	53107227	Human		name
405089222	CV3025042	single nucleotide variant	NM_004531.5(MOCS2):c.99-18T>G	not provided [RCV003699555]	likely benign	5	53102242	53102242	Human		name
405142639	CV3131355	single nucleotide variant	NM_004531.5(MOCS2):c.-48+7A>T	not provided [RCV003839395]	likely benign	5	53108515	53108515	Human		name
405294865	CV3214930	single nucleotide variant	NM_004531.5(MOCS2):c.502-3T>C	MOCS2-related disorder [RCV003936792]	likely benign	5	53098670	53098670	Human		name , trait , alternate_id
597974490	CV3798073	single nucleotide variant	NM_004531.5(MOCS2):c.98+12T>G	not provided [RCV005143868]	likely benign	5	53107065	53107065	Human		name
28901592	CV894478	single nucleotide variant	NM_004531.5(MOCS2):c.*2900A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156767]\|not provided [RCV004707559]	likely benign	5	53095702	53095702	Human	1	name
28901594	CV894479	single nucleotide variant	NM_004531.5(MOCS2):c.*2877G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156768]	uncertain significance	5	53095725	53095725	Human	1	name
28901596	CV894480	single nucleotide variant	NM_004531.5(MOCS2):c.*2675A>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156769]	uncertain significance	5	53095927	53095927	Human	1	name
28901599	CV894481	single nucleotide variant	NM_004531.5(MOCS2):c.*2672G>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156770]	uncertain significance	5	53095930	53095930	Human	1	name
28901601	CV894482	single nucleotide variant	NM_004531.5(MOCS2):c.*2651G>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156771]	benign	5	53095951	53095951	Human	1	name
28901603	CV894483	single nucleotide variant	NM_004531.5(MOCS2):c.*2609G>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156772]	uncertain significance	5	53095993	53095993	Human	1	name
28886990	CV894484	single nucleotide variant	NM_004531.5(MOCS2):c.*2582A>C	Platelet-type bleeding disorder 9 [RCV001156773]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151318]	benign	5	53096020	53096020	Human	2	name
28886994	CV894485	single nucleotide variant	NM_004531.5(MOCS2):c.*2415C>T	Platelet-type bleeding disorder 9 [RCV001151319]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151320]\|not provided [RCV004716681]	benign	5	53096187	53096187	Human	2	name
28886998	CV894486	single nucleotide variant	NM_004531.5(MOCS2):c.*2357T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151321]	likely benign	5	53096245	53096245	Human	1	name
28887002	CV894487	single nucleotide variant	NM_004531.5(MOCS2):c.*2158C>T	Platelet-type bleeding disorder 9 [RCV001151322]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151323]\|not provided [RCV004716682]	benign	5	53096444	53096444	Human	2	name
28887007	CV894488	single nucleotide variant	NM_004531.5(MOCS2):c.*2045G>A	Platelet-type bleeding disorder 9 [RCV001151324]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151325]	benign\|uncertain significance	5	53096557	53096557	Human	2	name
28895660	CV894489	single nucleotide variant	NM_004531.5(MOCS2):c.*2032G>A	Platelet-type bleeding disorder 9 [RCV001154361]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154362]\|not provided [RCV004716695]	benign	5	53096570	53096570	Human	2	name
28895664	CV894490	single nucleotide variant	NM_004531.5(MOCS2):c.*1918A>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154363]	uncertain significance	5	53096684	53096684	Human	1	name
28895667	CV894491	single nucleotide variant	NM_004531.5(MOCS2):c.*1913G>A	Platelet-type bleeding disorder 9 [RCV001154364]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154365]\|not provided [RCV003425955]	benign\|likely benign	5	53096689	53096689	Human	2	name
28895671	CV894492	single nucleotide variant	NM_004531.5(MOCS2):c.*1872C>T	Platelet-type bleeding disorder 9 [RCV001154366]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154367]\|not provided [RCV004716696]	benign	5	53096730	53096730	Human	2	name
28897897	CV894493	single nucleotide variant	NM_004531.5(MOCS2):c.*1673T>C	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155211]	benign	5	53096929	53096929	Human	1	name
28897899	CV894494	single nucleotide variant	NM_004531.5(MOCS2):c.*1658G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155212]	uncertain significance	5	53096944	53096944	Human	1	name
28897902	CV894495	single nucleotide variant	NM_004531.5(MOCS2):c.*1545G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155213]	uncertain significance	5	53097057	53097057	Human	1	name
28897905	CV894496	single nucleotide variant	NM_004531.5(MOCS2):c.*1544C>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155214]\|not provided [RCV004717765]	benign	5	53097058	53097058	Human	1	name
28897907	CV894497	single nucleotide variant	NM_004531.5(MOCS2):c.*1483C>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155215]	uncertain significance	5	53097119	53097119	Human	1	name
28901828	CV894498	single nucleotide variant	NM_004531.5(MOCS2):c.*1424G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156869]	uncertain significance	5	53097178	53097178	Human	1	name
28901832	CV894499	single nucleotide variant	NM_004531.5(MOCS2):c.*1284C>G	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156870]	uncertain significance	5	53097318	53097318	Human	1	name
28901835	CV894500	single nucleotide variant	NM_004531.5(MOCS2):c.*1167G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156871]	uncertain significance	5	53097435	53097435	Human	1	name
28901836	CV894501	single nucleotide variant	NM_004531.5(MOCS2):c.*1011G>A	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156872]\|not provided [RCV004716706]	benign	5	53097591	53097591	Human	1	name
127306155	CV1115951	single nucleotide variant	NM_004531.5(MOCS2):c.-169-4T>A	not provided [RCV001455413]	likely benign	5	53108647	53108647	Human		name
150510746	CV1242491	single nucleotide variant	NM_004531.5(MOCS2):c.-48+65A>C	not provided [RCV001660842]	benign	5	53108457	53108457	Human		name
150445217	CV1261162	single nucleotide variant	NM_004531.5(MOCS2):c.-48+40G>A	not provided [RCV001679836]	benign	5	53108482	53108482	Human		name
150461054	CV1275907	deletion	NM_004531.5(MOCS2):c.378-76del	not provided [RCV001709845]	benign	5	53100610	53100610	Human		name
152069232	CV1526433	single nucleotide variant	NM_004531.5(MOCS2):c.-169-9T>C	not provided [RCV002074872]	likely benign	5	53108652	53108652	Human		name
152105357	CV1536709	single nucleotide variant	NM_004531.5(MOCS2):c.378-13C>T	not provided [RCV002173640]	likely benign	5	53100547	53100547	Human		name
152170909	CV1536710	single nucleotide variant	NM_004531.5(MOCS2):c.378-15T>C	not provided [RCV002183318]	likely benign	5	53100549	53100549	Human		name
152110192	CV1551086	duplication	NM_004531.5(MOCS2):c.378-19dup	not provided [RCV002152949]	benign	5	53100552	53100553	Human		name
152120550	CV1574264	single nucleotide variant	NM_004531.5(MOCS2):c.-47-18A>G	not provided [RCV002175519]	likely benign	5	53107239	53107239	Human		name
152098309	CV1578408	deletion	NM_004531.5(MOCS2):c.378-19del	not provided [RCV002151483]	benign	5	53100553	53100553	Human		name
152052754	CV1581143	single nucleotide variant	NM_004531.5(MOCS2):c.227-11C>T	not provided [RCV002089365]	likely benign	5	53101520	53101520	Human		name
152163650	CV1604886	single nucleotide variant	NM_004531.5(MOCS2):c.-169-8A>T	not provided [RCV002203870]	likely benign	5	53108651	53108651	Human		name
152150564	CV1658525	duplication	NM_004531.5(MOCS2):c.227-12dup	not provided [RCV002139448]	likely benign	5	53101520	53101521	Human		name
156358715	CV1914247	single nucleotide variant	NM_004531.5(MOCS2):c.-48+18G>A	not provided [RCV002632523]	likely benign	5	53108504	53108504	Human		name
156394494	CV2015740	single nucleotide variant	NM_004531.5(MOCS2):c.-48+16T>G	not provided [RCV002725399]	likely benign	5	53108506	53108506	Human		name
405168539	CV2854060	single nucleotide variant	NM_004531.5(MOCS2):c.-169-4T>G	not provided [RCV003541981]	likely benign	5	53108647	53108647	Human		name
402515205	CV2856635	single nucleotide variant	NM_004531.5(MOCS2):c.226+16C>A	not provided [RCV003575431]	likely benign	5	53102081	53102081	Human		name
405043898	CV2859728	single nucleotide variant	NM_004531.5(MOCS2):c.502-15G>A	not provided [RCV003579315]	likely benign	5	53098682	53098682	Human		name
402515589	CV2860231	single nucleotide variant	NM_004531.5(MOCS2):c.377+13T>G	not provided [RCV003575309]	likely benign	5	53101346	53101346	Human		name
402488350	CV2861887	single nucleotide variant	NM_004531.5(MOCS2):c.377+19C>T	not provided [RCV003544702]	likely benign	5	53101340	53101340	Human		name
402518882	CV2870930	single nucleotide variant	NM_004531.5(MOCS2):c.377+20T>C	not provided [RCV003547606]	likely benign	5	53101339	53101339	Human		name
405216986	CV2897255	single nucleotide variant	NM_004531.5(MOCS2):c.-169-2A>G	not provided [RCV003567906]	likely pathogenic	5	53108645	53108645	Human		name
405111236	CV2899065	deletion	NM_004531.5(MOCS2):c.227-12del	not provided [RCV003557812]	benign	5	53101521	53101521	Human		name
405174747	CV2907894	single nucleotide variant	NM_004531.5(MOCS2):c.-169-1G>A	not provided [RCV003563379]	likely pathogenic	5	53108644	53108644	Human		name
405193980	CV2925642	single nucleotide variant	NM_004531.5(MOCS2):c.226+19T>C	not provided [RCV003565174]	likely benign	5	53102078	53102078	Human		name
402498936	CV2926655	single nucleotide variant	NM_004531.5(MOCS2):c.-47-14T>A	not provided [RCV003573790]	likely benign	5	53107235	53107235	Human		name
405120373	CV2957690	single nucleotide variant	NM_004531.5(MOCS2):c.501+19A>G	not provided [RCV003667381]	likely benign	5	53100392	53100392	Human		name
405210822	CV2966844	single nucleotide variant	NM_004531.5(MOCS2):c.502-19T>C	not provided [RCV003679367]	likely benign	5	53098686	53098686	Human		name
405193043	CV2985698	single nucleotide variant	NM_004531.5(MOCS2):c.378-10C>T	not provided [RCV003706644]	likely benign	5	53100544	53100544	Human		name
402497783	CV2988934	single nucleotide variant	NM_004531.5(MOCS2):c.227-10A>G	not provided [RCV003714429]	likely benign	5	53101519	53101519	Human		name
405118677	CV2997506	single nucleotide variant	NM_004531.5(MOCS2):c.377+11C>T	not provided [RCV003723638]	likely benign	5	53101348	53101348	Human		name
405061595	CV3030095	single nucleotide variant	NM_004531.5(MOCS2):c.502-14A>G	not provided [RCV003697725]	likely benign	5	53098681	53098681	Human		name
405066675	CV3030850	single nucleotide variant	NM_004531.5(MOCS2):c.226+17A>G	not provided [RCV003698068]	likely benign	5	53102080	53102080	Human		name
405240138	CV3064269	single nucleotide variant	NM_004531.5(MOCS2):c.-47-15T>C	not provided [RCV003737068]	likely benign	5	53107236	53107236	Human		name
405235460	CV3079377	single nucleotide variant	NM_004531.5(MOCS2):c.377+17C>G	not provided [RCV003735811]	likely benign	5	53101342	53101342	Human		name
405148286	CV3141941	deletion	NM_004531.5(MOCS2):c.-47-10del	not provided [RCV003839863]	benign	5	53107231	53107231	Human		name
405222841	CV3154996	single nucleotide variant	NM_004531.5(MOCS2):c.227-16T>C	not provided [RCV003847492]	likely benign	5	53101525	53101525	Human		name
404981072	CV3183372	single nucleotide variant	NM_004531.5(MOCS2):c.378-19T>C	not provided [RCV003880395]	likely benign	5	53100553	53100553	Human		name
597736430	CV3718484	single nucleotide variant	NM_004531.5(MOCS2):c.377+15A>T	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005037627]	uncertain significance	5	53101344	53101344	Human	1	name
597937335	CV3774671	single nucleotide variant	NM_004531.5(MOCS2):c.377+15A>G	not provided [RCV005117704]	likely benign	5	53101344	53101344	Human		name
597877206	CV3813355	single nucleotide variant	NM_004531.5(MOCS2):c.502-16T>C	not provided [RCV005149291]	likely benign	5	53098683	53098683	Human		name
150488532	CV1237495	deletion	NM_004531.5(MOCS2):c.502-188del	not provided [RCV001654344]	benign	5	53098855	53098855	Human		name
150510743	CV1242490	single nucleotide variant	NM_004531.5(MOCS2):c.227-201A>G	not provided [RCV001660841]	benign	5	53101710	53101710	Human		name
150446922	CV1261437	single nucleotide variant	NM_004531.5(MOCS2):c.227-106A>G	not provided [RCV001680111]	benign	5	53101615	53101615	Human		name
156409942	CV1962032	single nucleotide variant	NM_004531.5(MOCS2):c.-169-19G>T	not provided [RCV002586993]	likely benign	5	53108662	53108662	Human		name
156176793	CV2010405	single nucleotide variant	NM_004531.5(MOCS2):c.-169-18C>G	not provided [RCV002710655]	likely benign	5	53108661	53108661	Human		name
405247915	CV2984234	single nucleotide variant	NM_004531.5(MOCS2):c.-169-18C>T	not provided [RCV003720953]	likely benign	5	53108661	53108661	Human		name
597889234	CV3804802	single nucleotide variant	NM_004531.5(MOCS2):c.-169-16T>C	not provided [RCV005151064]	likely benign	5	53108659	53108659	Human		name
155914911	CV2033289	deletion	NM_004531.5(MOCS2):c.-623_-621del	not provided [RCV002750409]	likely benign	5	53109702	53109704	Human		name
405241991	CV2970966	deletion	NM_004531.5(MOCS2):c.99-6_99-5del	not provided [RCV003684251]	likely benign	5	53102229	53102230	Human		name
11598061	CV297809	deletion	NM_004531.5(MOCS2):c.99-8_99-5del	Combined molybdoflavoprotein enzyme deficiency [RCV000400880]\|not provided [RCV001434954]	likely benign\|uncertain significance	5	53102229	53102232	Human	2	name
151747790	CV1371659	single nucleotide variant	NM_004531.5(MOCS2):c.6G>A (p.Ser2=)	Inborn genetic diseases [RCV003167185]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005031879]\|not provided [RCV001947801]	likely benign\|uncertain significance	5	53107169	53107169	Human	2	name
152063734	CV1575229	single nucleotide variant	NM_176806.4(MOCS2):c.6G>T (p.Val2=)	not provided [RCV002110459]	likely benign	5	53109724	53109724	Human		name
152146494	CV1649553	single nucleotide variant	NM_176806.4(MOCS2):c.6G>A (p.Val2=)	not provided [RCV002121126]	likely benign	5	53109724	53109724	Human		name
155955066	CV2086910	single nucleotide variant	NM_176806.4(MOCS2):c.9G>T (p.Pro3=)	not provided [RCV002862555]	likely benign	5	53109721	53109721	Human		name
151777033	CV1381052	single nucleotide variant	NM_004531.5(MOCS2):c.27G>A (p.Ser9=)	Inborn genetic diseases [RCV004641889]\|not provided [RCV002045784]	likely benign\|uncertain significance	5	53107148	53107148	Human	1	name
156328017	CV2219992	single nucleotide variant	NM_004531.5(MOCS2):c.24C>T (p.Ser8=)	Inborn genetic diseases [RCV002717649]	uncertain significance	5	53107151	53107151	Human	1	name
405183765	CV2952909	single nucleotide variant	NM_176806.4(MOCS2):c.10C>T (p.Leu4=)	not provided [RCV003676519]	likely benign	5	53109720	53109720	Human		name
126725136	CV1026661	single nucleotide variant	NM_004531.5(MOCS2):c.45G>A (p.Thr15=)	Inborn genetic diseases [RCV002547090]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005038108]\|not provided [RCV001348053]	likely benign\|uncertain significance	5	53107130	53107130	Human	2	name
127310640	CV1155134	duplication	NM_004531.5(MOCS2):c.227-20_227-17dup	not provided [RCV001518358]	benign	5	53101525	53101526	Human		name
150430247	CV1226155	deletion	NM_004531.5(MOCS2):c.24del (p.Ser9fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001619771]	pathogenic	5	53107151	53107151	Human	1	name
151813121	CV1346048	single nucleotide variant	NM_004531.5(MOCS2):c.60C>T (p.Ser20=)	not provided [RCV001974975]	likely benign\|uncertain significance	5	53107115	53107115	Human		name
151782365	CV1454646	single nucleotide variant	NM_176806.4(MOCS2):c.1A>G (p.Met1Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005032009]\|not provided [RCV001951201]	pathogenic	5	53109729	53109729	Human	1	name
151826689	CV1471763	single nucleotide variant	NM_004531.5(MOCS2):c.66A>G (p.Pro22=)	not provided [RCV002030398]	likely benign\|uncertain significance	5	53107109	53107109	Human		name
151839228	CV1487545	single nucleotide variant	NM_004531.5(MOCS2):c.5C>T (p.Ser2Leu)	not provided [RCV001935902]	likely benign\|uncertain significance	5	53107170	53107170	Human		name
151828551	CV1489143	single nucleotide variant	NM_176806.4(MOCS2):c.8C>T (p.Pro3Leu)	not provided [RCV001934833]	uncertain significance	5	53109722	53109722	Human		name
155999291	CV1872687	single nucleotide variant	NM_176806.4(MOCS2):c.54A>T (p.Ile18=)	not provided [RCV003076502]	likely benign	5	53108608	53108608	Human		name
156312219	CV1896352	single nucleotide variant	NM_004531.5(MOCS2):c.2T>C (p.Met1Thr)	not provided [RCV003088518]	likely benign	5	53107173	53107173	Human		name
156131307	CV1934938	single nucleotide variant	NM_004531.5(MOCS2):c.78T>C (p.Asp26=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV003333234]\|not provided [RCV002640725]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	5	53107097	53107097	Human	1	name
156140174	CV2082279	single nucleotide variant	NM_004531.5(MOCS2):c.4T>G (p.Ser2Ala)	not provided [RCV002871954]	uncertain significance	5	53107171	53107171	Human		name
156100367	CV2087967	single nucleotide variant	NM_176806.4(MOCS2):c.48T>A (p.Ala16=)	not provided [RCV002848060]	likely benign	5	53108614	53108614	Human		name
8559116	CV21151	single nucleotide variant	NM_004531.5(MOCS2):c.3G>A (p.Met1Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006486]	pathogenic	5	53107172	53107172	Human	1	name
405176935	CV2915813	single nucleotide variant	NM_176806.4(MOCS2):c.90A>G (p.Gln30=)	not provided [RCV003563619]	likely benign	5	53108572	53108572	Human		name
405055581	CV2931963	single nucleotide variant	NM_176806.4(MOCS2):c.78T>C (p.Ile26=)	not provided [RCV003580106]	likely benign	5	53108584	53108584	Human		name
405141942	CV2958737	single nucleotide variant	NM_176806.4(MOCS2):c.72G>A (p.Glu24=)	not provided [RCV003673306]	likely benign	5	53108590	53108590	Human		name
11659481	CV297813	single nucleotide variant	NM_176806.4(MOCS2):c.7C>T (p.Pro3Ser)	Inborn genetic diseases [RCV004022001]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000358223]\|not provided [RCV002523526]	uncertain significance	5	53109723	53109723	Human	2	name
405015960	CV2995360	single nucleotide variant	NM_176806.4(MOCS2):c.3G>T (p.Met1Ile)	not provided [RCV003694397]	pathogenic	5	53109727	53109727	Human		name
402514385	CV3001377	deletion	NM_176806.4(MOCS2):c.12del (p.Cys5fs)	not provided [RCV003689813]	pathogenic	5	53109718	53109718	Human		name
402499912	CV3013013	single nucleotide variant	NM_176806.4(MOCS2):c.81T>G (p.Ser27=)	not provided [RCV003688384]	likely benign	5	53108581	53108581	Human		name
405047458	CV3028908	single nucleotide variant	NM_176806.4(MOCS2):c.48T>C (p.Ala16=)	not provided [RCV003696761]	likely benign	5	53108614	53108614	Human		name
405236653	CV3076720	single nucleotide variant	NM_176806.4(MOCS2):c.69A>G (p.Ser23=)	not provided [RCV003736017]	likely benign	5	53108593	53108593	Human		name
405238264	CV3077948	single nucleotide variant	NM_004531.5(MOCS2):c.54G>A (p.Pro18=)	not provided [RCV003736320]	likely benign	5	53107121	53107121	Human		name
407425796	CV3409641	single nucleotide variant	NM_004531.5(MOCS2):c.63C>G (p.Pro21=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005038720]\|not provided [RCV004585573]	uncertain significance	5	53107112	53107112	Human	1	name
13827579	CV578434	single nucleotide variant	NM_004531.5(MOCS2):c.2T>G (p.Met1Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000714697]	pathogenic	5	53107173	53107173	Human	1	name
21404470	CV802158	single nucleotide variant	NM_176806.4(MOCS2):c.3G>A (p.Met1Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001004857]\|not provided [RCV002549261]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	5	53109727	53109727	Human	1	name
127255312	CV1094419	single nucleotide variant	NM_004531.5(MOCS2):c.276T>C (p.Tyr92=)	not provided [RCV001426529]	likely benign	5	53101460	53101460	Human		name
127247559	CV1094420	single nucleotide variant	NM_004531.5(MOCS2):c.102A>G (p.Lys34=)	MOCS2-related disorder [RCV003953780]\|not provided [RCV001424729]	likely benign	5	53102221	53102221	Human	1	name , trait , alternate_id
127325039	CV1136936	single nucleotide variant	NM_004531.5(MOCS2):c.201C>G (p.Leu67=)	not provided [RCV001485668]	likely benign	5	53102122	53102122	Human		name
151854574	CV1344387	single nucleotide variant	NM_176806.4(MOCS2):c.183A>G (p.Gln61=)	not provided [RCV001923233]	uncertain significance	5	53107179	53107179	Human		name
151803427	CV1375496	single nucleotide variant	NM_004531.5(MOCS2):c.26C>G (p.Ser9Trp)	not provided [RCV001953139]	likely benign\|uncertain significance	5	53107149	53107149	Human		name
151748517	CV1422435	single nucleotide variant	NM_176806.4(MOCS2):c.17A>G (p.Gln6Arg)	not provided [RCV001927266]	uncertain significance	5	53109713	53109713	Human		name
151862816	CV1454253	single nucleotide variant	NM_004531.5(MOCS2):c.26C>T (p.Ser9Leu)	not provided [RCV001938778]	likely benign\|uncertain significance	5	53107149	53107149	Human		name
152111780	CV1539117	single nucleotide variant	NM_004531.5(MOCS2):c.198G>A (p.Pro66=)	not provided [RCV002080352]	likely benign	5	53102125	53102125	Human		name
152111438	CV1551445	single nucleotide variant	NM_004531.5(MOCS2):c.153C>T (p.Ala51=)	not provided [RCV002196828]	likely benign	5	53102170	53102170	Human		name
152098932	CV1595497	single nucleotide variant	NM_004531.5(MOCS2):c.219A>G (p.Leu73=)	not provided [RCV002213744]	likely benign	5	53102104	53102104	Human		name
152098325	CV1650326	single nucleotide variant	NM_004531.5(MOCS2):c.183G>A (p.Gln61=)	not provided [RCV002114994]	likely benign	5	53102140	53102140	Human		name
156401774	CV1908022	single nucleotide variant	NM_176806.4(MOCS2):c.111G>A (p.Leu37=)	not provided [RCV002584955]	likely benign	5	53108551	53108551	Human		name
156048137	CV1927204	single nucleotide variant	NM_004531.5(MOCS2):c.297G>A (p.Ala99=)	not provided [RCV002637838]	likely benign	5	53101439	53101439	Human		name
156131056	CV1933905	single nucleotide variant	NM_004531.5(MOCS2):c.234A>C (p.Thr78=)	not provided [RCV002640715]	likely benign	5	53101502	53101502	Human		name
155962654	CV2037787	single nucleotide variant	NM_004531.5(MOCS2):c.267C>T (p.Ser89=)	not provided [RCV002776344]	likely benign	5	53101469	53101469	Human		name
156145188	CV2052701	single nucleotide variant	NM_004531.5(MOCS2):c.138T>G (p.Val46=)	not provided [RCV002801104]	likely benign	5	53102185	53102185	Human		name
8597041	CV21150	duplication	NM_004531.5(MOCS2):c.65dup (p.Leu23fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006485]\|not provided [RCV001388974]	pathogenic	5	53107109	53107110	Human	1	name
8559117	CV21152	single nucleotide variant	NM_176806.4(MOCS2):c.16C>T (p.Gln6Ter)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000721967]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006487]\|not provided [RCV001851698]	pathogenic	5	53109714	53109714	Human	2	name
8559118	CV21153	single nucleotide variant	NM_176806.4(MOCS2):c.19G>T (p.Val7Phe)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006488]	pathogenic	5	53108643	53108643	Human	1	name
156299777	CV2306885	single nucleotide variant	NM_176806.4(MOCS2):c.20T>C (p.Val7Ala)	Inborn genetic diseases [RCV002897839]	uncertain significance	5	53108642	53108642	Human	1	name
243050630	CV2415498	deletion	NM_004531.5(MOCS2):c.58del (p.Ser20fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV003148073]	likely pathogenic	5	53107117	53107117	Human	1	name
405019224	CV2866171	single nucleotide variant	NM_004531.5(MOCS2):c.210A>G (p.Ala70=)	not provided [RCV003577445]	likely benign	5	53102113	53102113	Human		name
402523042	CV2867587	single nucleotide variant	NM_176806.4(MOCS2):c.120G>A (p.Glu40=)	not provided [RCV003547884]	likely benign	5	53108542	53108542	Human		name
402472464	CV2912334	single nucleotide variant	NM_176806.4(MOCS2):c.108G>A (p.Gln36=)	not provided [RCV003570801]	likely benign	5	53108554	53108554	Human		name
402509851	CV2938610	single nucleotide variant	NM_004531.5(MOCS2):c.228G>T (p.Gly76=)	not provided [RCV003662463]	likely benign	5	53101508	53101508	Human		name
405213989	CV2971403	single nucleotide variant	NM_004531.5(MOCS2):c.207T>G (p.Gly69=)	not provided [RCV003679775]	likely benign	5	53102116	53102116	Human		name
11597790	CV297808	single nucleotide variant	NM_004531.5(MOCS2):c.261C>T (p.Val87=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000397962]\|not provided [RCV002061288]	likely benign\|uncertain significance	5	53101475	53101475	Human	1	name
402495160	CV2978618	single nucleotide variant	NM_176806.4(MOCS2):c.102G>T (p.Ala34=)	not provided [RCV003714181]	likely benign	5	53108560	53108560	Human		name
405201362	CV2979049	single nucleotide variant	NM_176806.4(MOCS2):c.174T>G (p.Ala58=)	not provided [RCV003678214]	likely benign	5	53107188	53107188	Human		name
11594037	CV299991	single nucleotide variant	NM_176806.4(MOCS2):c.117G>A (p.Lys39=)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000354658]\|not provided [RCV001427397]	likely benign\|uncertain significance	5	53108545	53108545	Human	1	name
11588805	CV299992	single nucleotide variant	NM_176806.4(MOCS2):c.14G>A (p.Cys5Tyr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000305729]\|not provided [RCV000998389]	conflicting interpretations of pathogenicity\|uncertain significance	5	53109716	53109716	Human	1	name
402520091	CV3000194	single nucleotide variant	NM_004531.5(MOCS2):c.273A>G (p.Glu91=)	not provided [RCV003716313]	likely benign	5	53101463	53101463	Human		name
405083637	CV3017214	single nucleotide variant	NM_176806.4(MOCS2):c.138T>C (p.Pro46=)	not provided [RCV003699225]	likely benign	5	53108524	53108524	Human		name
11602654	CV304526	single nucleotide variant	NM_004531.5(MOCS2):c.255A>G (p.Lys85=)	Combined molybdoflavoprotein enzyme deficiency [RCV000292675]\|not provided [RCV001517942]	benign\|likely benign	5	53101481	53101481	Human	2	name
405135804	CV3130574	single nucleotide variant	NM_004531.5(MOCS2):c.165A>G (p.Ser55=)	not provided [RCV003838807]	likely benign	5	53102158	53102158	Human		name
405056851	CV3134847	single nucleotide variant	NM_176806.4(MOCS2):c.142T>C (p.Leu48=)	not provided [RCV003832519]	likely benign	5	53107220	53107220	Human		name
405220380	CV3157756	single nucleotide variant	NM_004531.5(MOCS2):c.216C>T (p.Ser72=)	not provided [RCV003863448]	likely benign	5	53102107	53102107	Human		name
126915445	CV1043618	single nucleotide variant	NM_004531.5(MOCS2):c.64C>G (p.Pro22Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005038124]\|not provided [RCV001359989]	uncertain significance	5	53107111	53107111	Human	1	name
126909467	CV1043620	single nucleotide variant	NM_176806.4(MOCS2):c.56C>G (p.Thr19Arg)	Inborn genetic diseases [RCV004037045]\|not provided [RCV001368507]	uncertain significance	5	53108606	53108606	Human	1	name
127284170	CV1094417	single nucleotide variant	NM_004531.5(MOCS2):c.534A>G (p.Gly178=)	not provided [RCV001449045]	likely benign	5	53098635	53098635	Human		name
127249707	CV1094418	single nucleotide variant	NM_004531.5(MOCS2):c.531A>G (p.Lys177=)	not provided [RCV001425196]	likely benign	5	53098638	53098638	Human		name
127321009	CV1115948	single nucleotide variant	NM_004531.5(MOCS2):c.510C>T (p.Tyr170=)	not provided [RCV001467115]	likely benign	5	53098659	53098659	Human		name
127330743	CV1115950	single nucleotide variant	NM_004531.5(MOCS2):c.462C>T (p.Ala154=)	not provided [RCV001471093]	likely benign	5	53100450	53100450	Human		name
127321339	CV1136935	single nucleotide variant	NM_004531.5(MOCS2):c.540A>G (p.Lys180=)	not provided [RCV001484501]	likely benign	5	53098629	53098629	Human		name
150430246	CV1226154	single nucleotide variant	NM_176806.4(MOCS2):c.33T>G (p.Tyr11Ter)	Combined molybdoflavoprotein enzyme deficiency [RCV004690120]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001619770]\|not provided [RCV005094855]	pathogenic	5	53108629	53108629	Human	3	name
151807609	CV1337134	single nucleotide variant	NM_176806.4(MOCS2):c.45T>A (p.Ser15Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV003348747]\|not provided [RCV002028663]\|not specified [RCV004699639]	pathogenic\|likely pathogenic\|uncertain significance	5	53108617	53108617	Human	1	name
151753699	CV1342507	single nucleotide variant	NM_176806.4(MOCS2):c.65G>C (p.Arg22Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005032072]\|not provided [RCV001986545]	uncertain significance	5	53108597	53108597	Human	1	name
151767709	CV1345261	single nucleotide variant	NM_004531.5(MOCS2):c.59C>T (p.Ser20Phe)	not provided [RCV001863774]	likely benign\|uncertain significance	5	53107116	53107116	Human		name
151835970	CV1374926	single nucleotide variant	NM_004531.5(MOCS2):c.53C>T (p.Pro18Leu)	not provided [RCV001920980]	likely benign\|uncertain significance	5	53107122	53107122	Human		name
151823343	CV1412143	single nucleotide variant	NM_004531.5(MOCS2):c.65C>T (p.Pro22Leu)	not provided [RCV001901099]	likely benign\|uncertain significance	5	53107110	53107110	Human		name
151834095	CV1412957	single nucleotide variant	NM_176806.4(MOCS2):c.38C>G (p.Ala13Gly)	not provided [RCV002014597]	uncertain significance	5	53108624	53108624	Human		name
151807817	CV1417772	single nucleotide variant	NM_004531.5(MOCS2):c.354C>T (p.His118=)	not provided [RCV001867718]	likely benign	5	53101382	53101382	Human		name
151748898	CV1430255	single nucleotide variant	NM_176806.4(MOCS2):c.65G>T (p.Arg22Leu)	not provided [RCV002006649]	uncertain significance	5	53108597	53108597	Human		name
151771817	CV1431361	single nucleotide variant	NM_004531.5(MOCS2):c.44C>T (p.Thr15Met)	not provided [RCV001915052]	likely benign\|uncertain significance	5	53107131	53107131	Human		name
151765472	CV1491285	duplication	NM_004531.5(MOCS2):c.163dup (p.Ser55fs)	not provided [RCV001949628]	pathogenic	5	53102159	53102160	Human		name
151887140	CV1496109	single nucleotide variant	NM_004531.5(MOCS2):c.61C>T (p.Pro21Ser)	not provided [RCV001887705]	uncertain significance	5	53107114	53107114	Human		name
152127381	CV1581087	single nucleotide variant	NM_004531.5(MOCS2):c.471T>G (p.Thr157=)	not provided [RCV002099007]	likely benign	5	53100441	53100441	Human		name
152117054	CV1645874	single nucleotide variant	NM_004531.5(MOCS2):c.333G>A (p.Arg111=)	not provided [RCV002175073]	likely benign	5	53101403	53101403	Human		name
152174817	CV1663519	single nucleotide variant	NM_004531.5(MOCS2):c.471T>C (p.Thr157=)	not provided [RCV002144564]	likely benign	5	53100441	53100441	Human		name
156240739	CV1882430	single nucleotide variant	NM_176806.4(MOCS2):c.88C>T (p.Gln30Ter)	Combined molybdoflavoprotein enzyme deficiency [RCV005406581]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005034647]\|not provided [RCV003085732]	pathogenic	5	53108574	53108574	Human	3	name
156093481	CV1909929	single nucleotide variant	NM_004531.5(MOCS2):c.33C>A (p.Phe11Leu)	not provided [RCV002591997]	uncertain significance	5	53107142	53107142	Human		name
156168966	CV1930101	single nucleotide variant	NM_004531.5(MOCS2):c.555A>T (p.Ala185=)	not provided [RCV002624641]	likely benign	5	53098614	53098614	Human		name
156334248	CV1966737	single nucleotide variant	NM_004531.5(MOCS2):c.450T>C (p.Ala150=)	not provided [RCV002600951]	likely benign	5	53100462	53100462	Human		name
156085770	CV1993182	single nucleotide variant	NM_176806.4(MOCS2):c.30G>T (p.Leu10Phe)	not provided [RCV002639048]	uncertain significance	5	53108632	53108632	Human		name
156245357	CV2029360	single nucleotide variant	NM_176806.4(MOCS2):c.42A>T (p.Lys14Asn)	not provided [RCV002745808]	uncertain significance	5	53108620	53108620	Human		name
156213467	CV2038879	single nucleotide variant	NM_004531.5(MOCS2):c.501G>A (p.Lys167=)	not provided [RCV002766693]	uncertain significance	5	53100411	53100411	Human		name
156246276	CV2053337	single nucleotide variant	NM_004531.5(MOCS2):c.85T>C (p.Phe29Leu)	not provided [RCV002791532]	uncertain significance	5	53107090	53107090	Human		name
155908607	CV2072808	single nucleotide variant	NM_004531.5(MOCS2):c.82G>A (p.Ala28Thr)	not provided [RCV002837538]	uncertain significance	5	53107093	53107093	Human		name
155954181	CV2077435	single nucleotide variant	NM_176806.4(MOCS2):c.76A>G (p.Ile26Val)	not provided [RCV002880670]	uncertain significance	5	53108586	53108586	Human		name
155906401	CV2080369	single nucleotide variant	NM_004531.5(MOCS2):c.81T>G (p.Ser27Arg)	not provided [RCV002858180]	uncertain significance	5	53107094	53107094	Human		name
156335067	CV2099327	single nucleotide variant	NM_004531.5(MOCS2):c.77A>T (p.Asp26Val)	not provided [RCV002900157]	uncertain significance	5	53107098	53107098	Human		name
156318772	CV2111838	single nucleotide variant	NM_004531.5(MOCS2):c.519A>G (p.Ser173=)	not provided [RCV002937613]	likely benign	5	53098650	53098650	Human		name
156117907	CV2115804	single nucleotide variant	NM_004531.5(MOCS2):c.65C>G (p.Pro22Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005034493]\|not provided [RCV002927694]	likely benign\|uncertain significance	5	53107110	53107110	Human	1	name
405178052	CV2861188	deletion	NM_004531.5(MOCS2):c.292del (p.Met98fs)	not provided [RCV003542937]	pathogenic	5	53101444	53101444	Human		name
405227855	CV2889062	single nucleotide variant	NM_004531.5(MOCS2):c.345A>G (p.Pro115=)	not provided [RCV003554871]	likely benign	5	53101391	53101391	Human		name
405149425	CV2891984	single nucleotide variant	NM_004531.5(MOCS2):c.65C>A (p.Pro22Gln)	not provided [RCV003561619]	likely benign	5	53107110	53107110	Human		name
405052396	CV2893574	single nucleotide variant	NM_004531.5(MOCS2):c.417G>A (p.Val139=)	not provided [RCV003579883]	likely benign	5	53100495	53100495	Human		name
405177867	CV2912971	deletion	NM_004531.5(MOCS2):c.147del (p.Phe49fs)	not provided [RCV003563697]	pathogenic	5	53102176	53102176	Human		name
405205912	CV2913329	single nucleotide variant	NM_004531.5(MOCS2):c.396A>G (p.Glu132=)	not provided [RCV003566499]	likely benign	5	53100516	53100516	Human		name
405201590	CV2918700	single nucleotide variant	NM_004531.5(MOCS2):c.336G>A (p.Gln112=)	not provided [RCV003565997]	likely benign	5	53101400	53101400	Human		name
405147189	CV2960059	single nucleotide variant	NM_004531.5(MOCS2):c.438A>G (p.Ala146=)	not provided [RCV003669784]	likely benign	5	53100474	53100474	Human		name
404984158	CV2989508	deletion	NM_004531.5(MOCS2):c.217del (p.Leu73fs)	not provided [RCV003691506]	pathogenic	5	53102106	53102106	Human		name
402524588	CV3015041	single nucleotide variant	NM_004531.5(MOCS2):c.393A>G (p.Ser131=)	not provided [RCV003690514]	likely benign	5	53100519	53100519	Human		name
405058588	CV3019643	single nucleotide variant	NM_004531.5(MOCS2):c.426C>T (p.Ala142=)	not provided [RCV003697443]	likely benign	5	53100486	53100486	Human		name
405087864	CV3024978	deletion	NM_004531.5(MOCS2):c.134del (p.Asp45fs)	not provided [RCV003699528]	pathogenic	5	53102189	53102189	Human		name
405198618	CV3032703	deletion	NM_004531.5(MOCS2):c.168del (p.Asp57fs)	not provided [RCV003707135]	pathogenic	5	53102155	53102155	Human		name
405029799	CV3073609	single nucleotide variant	NM_004531.5(MOCS2):c.390G>A (p.Val130=)	not provided [RCV003739010]	likely benign	5	53100522	53100522	Human		name
405206482	CV3154656	single nucleotide variant	NM_004531.5(MOCS2):c.360A>G (p.Ala120=)	not provided [RCV003845166]	likely benign	5	53101376	53101376	Human		name
405852788	CV3392570	single nucleotide variant	NM_004531.5(MOCS2):c.76G>C (p.Asp26His)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV004527562]	uncertain significance	5	53107099	53107099	Human	1	name
597681687	CV3718490	single nucleotide variant	NM_004531.5(MOCS2):c.44C>G (p.Thr15Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005045439]	uncertain significance	5	53107131	53107131	Human	1	name
597908769	CV3806386	single nucleotide variant	NM_004531.5(MOCS2):c.35G>A (p.Ser12Asn)	not provided [RCV005153953]	likely benign	5	53107140	53107140	Human		name
597904952	CV3853048	single nucleotide variant	NM_004531.5(MOCS2):c.519A>T (p.Ser173=)	not provided [RCV005202705]	likely benign	5	53098650	53098650	Human		name
597900983	CV3855130	single nucleotide variant	NM_004531.5(MOCS2):c.549T>C (p.Phe183=)	not provided [RCV005202038]	likely benign	5	53098620	53098620	Human		name
21069087	CV795709	single nucleotide variant	NM_004531.5(MOCS2):c.318T>C (p.Ile106=)	not provided [RCV000998383]	benign\|likely benign	5	53101418	53101418	Human		name
21069089	CV795711	single nucleotide variant	NM_004531.5(MOCS2):c.57A>T (p.Leu19Phe)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005036269]\|not provided [RCV000998386]	uncertain significance	5	53107118	53107118	Human	1	name
21069091	CV795713	single nucleotide variant	NM_176806.4(MOCS2):c.79T>C (p.Ser27Pro)	not provided [RCV000998388]	uncertain significance	5	53108583	53108583	Human		name
28886802	CV859439	single nucleotide variant	NM_004531.5(MOCS2):c.74A>G (p.Glu25Gly)	Inborn genetic diseases [RCV004639465]\|not provided [RCV001091909]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	53107101	53107101	Human	1	name
126752512	CV990981	single nucleotide variant	NM_176806.4(MOCS2):c.61G>T (p.Val21Phe)	not provided [RCV001297747]	uncertain significance	5	53108601	53108601	Human		name
126748435	CV1006149	single nucleotide variant	NM_004531.5(MOCS2):c.163T>G (p.Ser55Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005038065]\|not provided [RCV001315534]	uncertain significance	5	53102160	53102160	Human	1	name
126744740	CV1020109	single nucleotide variant	NM_176806.4(MOCS2):c.172G>A (p.Ala58Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001337096]	uncertain significance	5	53107190	53107190	Human	1	name
126748876	CV1026660	single nucleotide variant	NM_004531.5(MOCS2):c.154G>A (p.Glu52Lys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005394953]\|not provided [RCV001337742]	uncertain significance	5	53102169	53102169	Human	1	name
126923311	CV1043617	single nucleotide variant	NM_004531.5(MOCS2):c.209C>T (p.Ala70Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV002499744]\|not provided [RCV001365694]	uncertain significance	5	53102114	53102114	Human	1	name
126924601	CV1043619	single nucleotide variant	NM_176806.4(MOCS2):c.100G>T (p.Ala34Ser)	not provided [RCV001367219]	uncertain significance	5	53108562	53108562	Human		name
150466298	CV1255716	insertion	NM_004531.5(MOCS2):c.-48+74_-48+75insAGT	not provided [RCV001670350]	benign	5	53108447	53108448	Human		name
151858221	CV1347604	single nucleotide variant	NM_004531.5(MOCS2):c.233C>T (p.Thr78Ile)	not provided [RCV002034043]	uncertain significance	5	53101503	53101503	Human		name
151858210	CV1377558	deletion	NM_004531.5(MOCS2):c.500del (p.Lys167fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005042520]\|not provided [RCV001938211]	likely pathogenic\|uncertain significance	5	53100412	53100412	Human	1	name
151768383	CV1394090	single nucleotide variant	NM_004531.5(MOCS2):c.284A>T (p.Tyr95Phe)	not provided [RCV002008608]	uncertain significance	5	53101452	53101452	Human		name
151859098	CV1398392	single nucleotide variant	NM_004531.5(MOCS2):c.128C>A (p.Ser43Tyr)	not provided [RCV002017537]	uncertain significance	5	53102195	53102195	Human		name
151789395	CV1399634	single nucleotide variant	NM_004531.5(MOCS2):c.206G>A (p.Gly69Asp)	not provided [RCV001916666]	uncertain significance	5	53102117	53102117	Human		name
151754740	CV1425834	single nucleotide variant	NM_176806.4(MOCS2):c.106C>T (p.Gln36Ter)	not provided [RCV002007215]	pathogenic	5	53108556	53108556	Human		name
151772399	CV1427596	single nucleotide variant	NM_004531.5(MOCS2):c.241A>T (p.Asn81Tyr)	Inborn genetic diseases [RCV004641754]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV002503531]\|not provided [RCV001915109]	uncertain significance	5	53101495	53101495	Human	2	name
151777178	CV1436615	single nucleotide variant	NM_176806.4(MOCS2):c.109C>G (p.Leu37Val)	not provided [RCV001971740]	uncertain significance	5	53108553	53108553	Human		name
151768430	CV1450793	single nucleotide variant	NM_176806.4(MOCS2):c.161A>G (p.Gln54Arg)	not provided [RCV001929282]	uncertain significance	5	53107201	53107201	Human		name
151809738	CV1483729	single nucleotide variant	NM_004531.5(MOCS2):c.140T>C (p.Ile47Thr)	not provided [RCV001918486]	uncertain significance	5	53102183	53102183	Human		name
151731381	CV1489781	single nucleotide variant	NM_176806.4(MOCS2):c.163A>G (p.Ile55Val)	not provided [RCV001910904]	uncertain significance	5	53107199	53107199	Human		name
151830020	CV1491699	single nucleotide variant	NM_004531.5(MOCS2):c.107T>C (p.Met36Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005032065]\|not provided [RCV002030706]	uncertain significance	5	53102216	53102216	Human	1	name
151783554	CV1491892	single nucleotide variant	NM_004531.5(MOCS2):c.121G>A (p.Glu41Lys)	not provided [RCV002026494]	uncertain significance	5	53102202	53102202	Human		name
152130347	CV1582238	single nucleotide variant	NM_176806.4(MOCS2):c.152T>C (p.Val51Ala)	not provided [RCV002099400]	likely benign	5	53107210	53107210	Human		name
156024917	CV1896091	single nucleotide variant	NM_176806.4(MOCS2):c.126A>C (p.Glu42Asp)	not provided [RCV003100381]	uncertain significance	5	53108536	53108536	Human		name
156153255	CV1896092	single nucleotide variant	NM_176806.4(MOCS2):c.117G>T (p.Lys39Asn)	not provided [RCV003082623]	uncertain significance	5	53108545	53108545	Human		name
156416896	CV1898378	single nucleotide variant	NM_004531.5(MOCS2):c.118G>T (p.Glu40Ter)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005034723]\|not provided [RCV002610415]	pathogenic\|likely pathogenic	5	53102205	53102205	Human	1	name
155933385	CV1919869	single nucleotide variant	NM_004531.5(MOCS2):c.149C>G (p.Thr50Ser)	not provided [RCV002615132]	uncertain significance	5	53102174	53102174	Human		name
155951616	CV1921992	single nucleotide variant	NM_004531.5(MOCS2):c.118G>A (p.Glu40Lys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005045338]\|not provided [RCV002616254]	uncertain significance	5	53102205	53102205	Human	1	name
156318532	CV1965873	single nucleotide variant	NM_004531.5(MOCS2):c.169G>T (p.Asp57Tyr)	not provided [RCV002600089]	uncertain significance	5	53102154	53102154	Human		name
155901192	CV1975653	single nucleotide variant	NM_004531.5(MOCS2):c.136G>A (p.Val46Ile)	not provided [RCV002613397]	uncertain significance	5	53102187	53102187	Human		name
156196062	CV1994921	single nucleotide variant	NM_004531.5(MOCS2):c.164C>G (p.Ser55Ter)	not provided [RCV002643470]	pathogenic	5	53102159	53102159	Human		name
156114944	CV2035436	single nucleotide variant	NM_004531.5(MOCS2):c.294G>T (p.Met98Ile)	not provided [RCV002785551]	uncertain significance	5	53101442	53101442	Human		name
156173373	CV2071854	single nucleotide variant	NM_004531.5(MOCS2):c.160C>G (p.Leu54Val)	not provided [RCV002851601]	uncertain significance	5	53102163	53102163	Human		name
8597042	CV21155	deletion	NM_176806.4(MOCS2):c.-8_15del (p.Met1fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006490]	pathogenic\|likely pathogenic	5	53109715	53109737	Human	1	name
156008064	CV2163354	deletion	NM_004531.5(MOCS2):c.367del (p.His123fs)	not provided [RCV003017593]	pathogenic	5	53101369	53101369	Human		name
155956901	CV2182521	single nucleotide variant	NM_004531.5(MOCS2):c.239A>G (p.Asn80Ser)	not provided [RCV003032732]	uncertain significance	5	53101497	53101497	Human		name
155994364	CV2253683	single nucleotide variant	NM_004531.5(MOCS2):c.156G>T (p.Glu52Asp)	Inborn genetic diseases [RCV002793958]	uncertain significance	5	53102167	53102167	Human	1	name
405204401	CV2990410	duplication	NM_004531.5(MOCS2):c.469dup (p.Thr157fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005047750]\|not provided [RCV003678524]	pathogenic\|likely pathogenic	5	53100442	53100443	Human	1	name
11593563	CV299986	single nucleotide variant	NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala)	Combined molybdoflavoprotein enzyme deficiency [RCV000349961]\|not provided [RCV001517943]	benign\|likely benign	5	53102175	53102175	Human	2	name
11588225	CV299988	single nucleotide variant	NM_176806.4(MOCS2):c.178C>T (p.Arg60Cys)	Inborn genetic diseases [RCV004022000]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000300889]\|not provided [RCV001344244]	likely benign\|uncertain significance	5	53107184	53107184	Human	2	name
405116049	CV3019329	single nucleotide variant	NM_004531.5(MOCS2):c.271G>T (p.Glu91Ter)	not provided [RCV003700157]	pathogenic	5	53101465	53101465	Human		name
11608140	CV304210	single nucleotide variant	NM_004531.5(MOCS2):c.296C>T (p.Ala99Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000350921]\|not provided [RCV000998384]	conflicting interpretations of pathogenicity\|uncertain significance	5	53101440	53101440	Human	2	name
11608140	CV304210	single nucleotide variant	NM_004531.5(MOCS2):c.296C>T (p.Ala99Val)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000350921]\|not provided [RCV000998384]	conflicting interpretations of pathogenicity\|uncertain significance	5	53101440	53101441	Human	2	name
407518911	CV3453796	single nucleotide variant	NM_176806.4(MOCS2):c.101C>T (p.Ala34Val)	Inborn genetic diseases [RCV004629044]	uncertain significance	5	53108561	53108561	Human	1	name
408389465	CV3529430	single nucleotide variant	NM_176806.4(MOCS2):c.170T>C (p.Phe57Ser)	not provided [RCV004774252]	uncertain significance	5	53107192	53107192	Human		name
597736435	CV3718486	single nucleotide variant	NM_004531.5(MOCS2):c.284A>C (p.Tyr95Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005037628]	uncertain significance	5	53101452	53101452	Human	1	name
597736441	CV3718488	single nucleotide variant	NM_004531.5(MOCS2):c.178T>C (p.Ser60Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005037629]	uncertain significance	5	53102145	53102145	Human	1	name
597736453	CV3718491	single nucleotide variant	NM_176806.4(MOCS2):c.172G>T (p.Ala58Ser)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005037631]	uncertain significance	5	53107190	53107190	Human	1	name
597681697	CV3718492	single nucleotide variant	NM_176806.4(MOCS2):c.127A>G (p.Thr43Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005045440]	uncertain significance	5	53108535	53108535	Human	1	name
597681707	CV3718493	single nucleotide variant	NM_176806.4(MOCS2):c.124G>A (p.Glu42Lys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005045441]	uncertain significance	5	53108538	53108538	Human	1	name
597736459	CV3718494	single nucleotide variant	NM_176806.4(MOCS2):c.123A>G (p.Ile41Met)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005037632]	uncertain significance	5	53108539	53108539	Human	1	name
598201343	CV4007597	single nucleotide variant	NM_004531.5(MOCS2):c.123G>T (p.Glu41Asp)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005398429]	uncertain significance	5	53102200	53102200	Human	1	name
12893464	CV406753	single nucleotide variant	NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg)	MOCS2-related disorder [RCV004758020]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001731709]\|not provided [RCV000479116]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	5	53102097	53102097	Human	1	name , trait , alternate_id
13474630	CV443803	single nucleotide variant	NM_176806.4(MOCS2):c.114G>A (p.Trp38Ter)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005034077]\|not provided [RCV000519698]	likely pathogenic	5	53108548	53108548	Human	1	name
13518872	CV486372	single nucleotide variant	NM_004531.5(MOCS2):c.108G>A (p.Met36Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000764611]\|not provided [RCV000585182]	uncertain significance	5	53102215	53102215	Human	1	name
13827625	CV578435	single nucleotide variant	NM_176806.4(MOCS2):c.134A>C (p.His45Pro)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000714801]	uncertain significance	5	53108528	53108528	Human	1	name
21069088	CV795710	single nucleotide variant	NM_004531.5(MOCS2):c.244T>G (p.Phe82Val)	not provided [RCV000998385]	uncertain significance	5	53101492	53101492	Human		name
21069090	CV795712	single nucleotide variant	NM_176806.4(MOCS2):c.146C>G (p.Ala49Gly)	not provided [RCV000998387]	uncertain significance	5	53107216	53107216	Human		name
28898138	CV894513	single nucleotide variant	NM_004531.5(MOCS2):c.229A>G (p.Thr77Ala)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155308]\|not provided [RCV001513184]	benign	5	53101507	53101507	Human	1	name
28902079	CV894514	single nucleotide variant	NM_004531.5(MOCS2):c.104A>G (p.Asp35Gly)	MOCS2-related disorder [RCV003928753]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156979]\|not provided [RCV001511918]	benign\|likely benign	5	53102219	53102219	Human	1	name , trait , alternate_id
126742248	CV990979	single nucleotide variant	NM_004531.5(MOCS2):c.197C>T (p.Pro66Leu)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005038050]\|not provided [RCV001305533]	uncertain significance	5	53102126	53102126	Human	1	name
126730189	CV990980	single nucleotide variant	NM_176806.4(MOCS2):c.179G>A (p.Arg60His)	not provided [RCV001303693]	uncertain significance	5	53107183	53107183	Human		name
126726463	CV1026659	single nucleotide variant	NM_004531.5(MOCS2):c.499A>C (p.Lys167Gln)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005038110]\|not provided [RCV001348462]	uncertain significance	5	53100413	53100413	Human	1	name
126917361	CV1043615	single nucleotide variant	NM_004531.5(MOCS2):c.550T>G (p.Trp184Gly)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005038148]\|not provided [RCV001372028]	uncertain significance	5	53098619	53098619	Human	1	name
126922729	CV1043616	single nucleotide variant	NM_004531.5(MOCS2):c.509A>G (p.Tyr170Cys)	not provided [RCV001365010]	uncertain significance	5	53098660	53098660	Human		name
127315803	CV1155133	single nucleotide variant	NM_004531.5(MOCS2):c.560A>G (p.Asn187Ser)	MOCS2-related disorder [RCV003921154]\|not provided [RCV001520159]	benign	5	53098609	53098609	Human	1	name , trait , alternate_id
151885790	CV1340966	single nucleotide variant	NM_004531.5(MOCS2):c.511G>A (p.Glu171Lys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005042556]\|not provided [RCV001962620]	uncertain significance	5	53098658	53098658	Human	1	name
151716482	CV1345985	single nucleotide variant	NM_004531.5(MOCS2):c.523A>G (p.Thr175Ala)	Inborn genetic diseases [RCV002562190]\|not provided [RCV001965305]	uncertain significance	5	53098646	53098646	Human	1	name
151858498	CV1347656	single nucleotide variant	NM_004531.5(MOCS2):c.433G>C (p.Ala145Pro)	not provided [RCV002034074]	uncertain significance	5	53100479	53100479	Human		name
151822830	CV1351328	single nucleotide variant	NM_004531.5(MOCS2):c.539A>G (p.Lys180Arg)	not provided [RCV001992951]	uncertain significance	5	53098630	53098630	Human		name
151766782	CV1391488	single nucleotide variant	NM_004531.5(MOCS2):c.319T>G (p.Cys107Gly)	not provided [RCV001970780]	uncertain significance	5	53101417	53101417	Human		name
151827401	CV1400558	single nucleotide variant	NM_004531.5(MOCS2):c.514G>C (p.Glu172Gln)	not provided [RCV001976307]	uncertain significance	5	53098655	53098655	Human		name
151801514	CV1405579	single nucleotide variant	NM_004531.5(MOCS2):c.419C>T (p.Ser140Phe)	Combined molybdoflavoprotein enzyme deficiency [RCV004690167]\|not provided [RCV001899103]	likely pathogenic\|uncertain significance	5	53100493	53100493	Human	2	name
151880081	CV1411231	single nucleotide variant	NM_004531.5(MOCS2):c.487C>T (p.Pro163Ser)	not provided [RCV002020024]	uncertain significance	5	53100425	53100425	Human		name
151893011	CV1411797	single nucleotide variant	NM_004531.5(MOCS2):c.377G>C (p.Gly126Ala)	not provided [RCV001944684]	uncertain significance	5	53101359	53101359	Human		name
151748367	CV1442268	single nucleotide variant	NM_004531.5(MOCS2):c.479C>T (p.Ala160Val)	not provided [RCV002043003]	uncertain significance	5	53100433	53100433	Human		name
151872727	CV1444746	deletion	NM_176806.4(MOCS2):c.57_58del (p.Gly20fs)	not provided [RCV001960658]	pathogenic	5	53108604	53108605	Human		name
151866040	CV1484418	single nucleotide variant	NM_004531.5(MOCS2):c.325G>A (p.Asp109Asn)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005042549]\|not provided [RCV001959836]	uncertain significance	5	53101411	53101411	Human	1	name
156291643	CV1881899	single nucleotide variant	NM_004531.5(MOCS2):c.460G>A (p.Ala154Thr)	not provided [RCV003061484]	uncertain significance	5	53100452	53100452	Human		name
156282684	CV1896890	single nucleotide variant	NM_004531.5(MOCS2):c.302A>G (p.Asn101Ser)	not provided [RCV003087173]	uncertain significance	5	53101434	53101434	Human		name
155926917	CV1916028	single nucleotide variant	NM_004531.5(MOCS2):c.411T>G (p.Ile137Met)	not provided [RCV002614810]	uncertain significance	5	53100501	53100501	Human		name
156267614	CV2059680	single nucleotide variant	NM_004531.5(MOCS2):c.322A>G (p.Ser108Gly)	not provided [RCV002806547]	uncertain significance	5	53101414	53101414	Human		name
155994622	CV2063951	single nucleotide variant	NM_004531.5(MOCS2):c.402C>G (p.Ser134Arg)	not provided [RCV002843122]	uncertain significance	5	53100510	53100510	Human		name
155958472	CV2087156	deletion	NM_004531.5(MOCS2):c.60_70del (p.Pro21fs)	not provided [RCV002862738]	pathogenic	5	53107105	53107115	Human		name
156088954	CV2096577	single nucleotide variant	NM_004531.5(MOCS2):c.344C>T (p.Pro115Leu)	not provided [RCV002926605]	uncertain significance	5	53101392	53101392	Human		name
156091121	CV2102672	single nucleotide variant	NM_004531.5(MOCS2):c.512A>G (p.Glu171Gly)	not provided [RCV002913040]	uncertain significance	5	53098657	53098657	Human		name
8559115	CV21148	single nucleotide variant	NM_004531.5(MOCS2):c.502G>A (p.Glu168Lys)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006483]	pathogenic	5	53098667	53098667	Human	1	name
8559119	CV21154	single nucleotide variant	NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006489]\|not provided [RCV001323986]	pathogenic\|likely pathogenic\|uncertain significance	5	53098602	53098602	Human	1	name
10449863	CV215317	single nucleotide variant	NM_004531.5(MOCS2):c.367C>T (p.His123Tyr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155307]\|not provided [RCV000584906]\|not specified [RCV000203023]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	53101369	53101369	Human	2	name
10449863	CV215317	single nucleotide variant	NM_004531.5(MOCS2):c.367C>T (p.His123Tyr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155307]\|not provided [RCV000584906]\|not specified [RCV000203023]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	53101369	53101370	Human	2	name
156249923	CV2174530	single nucleotide variant	NM_004531.5(MOCS2):c.507A>G (p.Ile169Met)	not provided [RCV003043750]	uncertain significance	5	53098662	53098662	Human		name
156363589	CV2180677	single nucleotide variant	NM_004531.5(MOCS2):c.550T>C (p.Trp184Arg)	not provided [RCV003049191]	uncertain significance	5	53098619	53098619	Human		name
155959849	CV2183371	single nucleotide variant	NM_004531.5(MOCS2):c.428A>G (p.His143Arg)	not provided [RCV003032886]	uncertain significance	5	53100484	53100484	Human		name
401891216	CV2769162	single nucleotide variant	NM_004531.5(MOCS2):c.328A>G (p.Ile110Val)	Inborn genetic diseases [RCV003369331]	uncertain significance	5	53101408	53101408	Human	1	name
405134855	CV3018563	single nucleotide variant	NM_004531.5(MOCS2):c.389T>G (p.Val130Gly)	not provided [RCV003702012]	uncertain significance	5	53100523	53100523	Human		name
405224721	CV3058065	single nucleotide variant	NM_004531.5(MOCS2):c.304G>T (p.Glu102Ter)	Combined molybdoflavoprotein enzyme deficiency [RCV004701814]\|not provided [RCV003733759]	pathogenic	5	53101432	53101432	Human	2	name
405222835	CV3154995	insertion	NM_004531.5(MOCS2):c.227-12_227-11insTTTG	not provided [RCV003847491]	likely benign	5	53101520	53101521	Human		name
597681644	CV3718482	single nucleotide variant	NM_004531.5(MOCS2):c.470C>T (p.Thr157Ile)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005045435]	uncertain significance	5	53100442	53100442	Human	1	name
597681657	CV3718485	single nucleotide variant	NM_004531.5(MOCS2):c.353A>G (p.His118Arg)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005045436]	uncertain significance	5	53101383	53101383	Human	1	name
597854869	CV3821700	single nucleotide variant	NM_004531.5(MOCS2):c.473T>G (p.Leu158Ter)	not provided [RCV005174178]	uncertain significance	5	53100439	53100439	Human		name
21069086	CV795708	single nucleotide variant	NM_004531.5(MOCS2):c.415G>A (p.Val139Met)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154475]\|not provided [RCV000998382]	uncertain significance	5	53100497	53100497	Human	1	name
38460864	CV918971	microsatellite	NM_176806.4(MOCS2):c.30_34del (p.Leu10fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001196957]	likely pathogenic	5	53108628	53108632	Human		name
126765593	CV990978	single nucleotide variant	NM_004531.5(MOCS2):c.464T>C (p.Ile155Thr)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005038045]\|not provided [RCV001301551]	uncertain significance	5	53100448	53100448	Human	1	name
156417816	CV1920500	microsatellite	NM_004531.5(MOCS2):c.227-17_227-16insTTTCT	not provided [RCV002610980]	likely benign	5	53101525	53101526	Human		name
151782832	CV1486933	deletion	NM_004531.5(MOCS2):c.109_112del (p.Asp37fs)	not provided [RCV001916040]	pathogenic	5	53102211	53102214	Human		name
405156915	CV3163527	microsatellite	NM_004531.5(MOCS2):c.106_107del (p.Met36fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005040574]\|not provided [RCV003856773]	pathogenic\|likely pathogenic	5	53102216	53102217	Human		name
597681668	CV3718487	deletion	NM_004531.5(MOCS2):c.182_185del (p.Gln61fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV005045437]\|not provided [RCV005105253]	pathogenic\|likely pathogenic	5	53102138	53102141	Human	1	name
151842661	CV1438393	microsatellite	NM_004531.5(MOCS2):c.140_141dup (p.Asn48Ter)	not provided [RCV001921720]	pathogenic	5	53102181	53102182	Human		name
8597039	CV21147	deletion	NM_004531.5(MOCS2):c.539_540del (p.Lys180fs)	Abnormality of metabolism/homeostasis [RCV001813958]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006482]\|not provided [RCV001377873]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	5	53098629	53098630	Human	2	name
8597040	CV21149	deletion	NM_004531.5(MOCS2):c.346_349del (p.Val116fs)	Combined molybdoflavoprotein enzyme deficiency [RCV000288995]\|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006484]\|not provided [RCV003546452]	pathogenic\|uncertain significance	5	53101387	53101390	Human	3	name
405187987	CV2974120	microsatellite	NM_004531.5(MOCS2):c.400_403dup (p.Ile135fs)	not provided [RCV003676935]	pathogenic	5	53100508	53100509	Human		name
405282117	CV3224732	insertion	NM_004531.5(MOCS2):c.214_215insA (p.Ser72fs)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV003989069]	uncertain significance	5	53102108	53102109	Human	1	name
597879527	CV3786903	microsatellite	NM_004531.5(MOCS2):c.515_516del (p.Glu172fs)	not provided [RCV005123979]	pathogenic	5	53098653	53098654	Human		name
151810567	CV1516483	deletion	NM_004531.5(MOCS2):c.472_477del (p.Leu158_Lys159del)	not provided [RCV002012393]	uncertain significance	5	53100435	53100440	Human		name
598177032	CV3891075	indel	NM_004531.5(MOCS2):c.471_477delinsG (p.Leu158_Lys159del)	not provided [RCV005251928]	likely pathogenic	5	53100435	53100441	Human		name

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