Nus1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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454 records found for search term Nus1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
401920892	CV2820666	single nucleotide variant	NM_138459.5(NUS1):c.-4G>T	not provided [RCV003432024]	uncertain significance	6	117675667	117675667	Human		name
150535249	CV1294158	single nucleotide variant	NM_138459.5(NUS1):c.*18A>G	not provided [RCV001758176]	likely benign	6	117707033	117707033	Human		name
151233900	CV1317553	single nucleotide variant	NM_138459.5(NUS1):c.-16T>C	Congenital disorder of glycosylation, type IAA [RCV001788934]\|Intellectual disability, autosomal dominant 55, with seizures [RCV001788935]	benign	6	117675655	117675655	Human	2	name
155265079	CV1704589	single nucleotide variant	NM_138459.5(NUS1):c.-185G>A	not provided [RCV002284805]	likely benign	6	117675486	117675486	Human		name
151350782	CV1324832	single nucleotide variant	NM_138459.5(NUS1):c.692-2A>G	Congenital disorder of glycosylation, type IAA [RCV001869602]\|Intellectual disability, autosomal dominant 55, with seizures [RCV001809277]	likely pathogenic	6	117703603	117703603	Human	2	name
152118288	CV1534941	single nucleotide variant	NM_138459.5(NUS1):c.791+7A>G	Congenital disorder of glycosylation, type IAA [RCV002153928]	likely benign	6	117703711	117703711	Human	1	name
152147786	CV1558983	single nucleotide variant	NM_138459.5(NUS1):c.415+9C>T	Congenital disorder of glycosylation, type IAA [RCV002157699]	likely benign	6	117676094	117676094	Human	1	name
152064487	CV1575386	single nucleotide variant	NM_138459.5(NUS1):c.416-6T>C	Congenital disorder of glycosylation, type IAA [RCV002110577]	likely benign	6	117693036	117693036	Human	1	name
152044183	CV1588521	single nucleotide variant	NM_138459.5(NUS1):c.416-9T>G	Congenital disorder of glycosylation, type IAA [RCV002188638]	likely benign	6	117693033	117693033	Human	1	name
152086861	CV1602381	single nucleotide variant	NM_138459.5(NUS1):c.416-6T>G	Congenital disorder of glycosylation, type IAA [RCV002113506]	likely benign	6	117693036	117693036	Human	1	name
152064160	CV1612219	single nucleotide variant	NM_138459.5(NUS1):c.691+7T>G	Congenital disorder of glycosylation, type IAA [RCV002128733]	likely benign	6	117694187	117694187	Human	1	name
152049478	CV1657041	single nucleotide variant	NM_138459.5(NUS1):c.541+8T>C	Congenital disorder of glycosylation, type IAA [RCV002189222]	likely benign	6	117693175	117693175	Human	1	name
155996070	CV1875798	single nucleotide variant	NM_138459.5(NUS1):c.691+8T>G	Congenital disorder of glycosylation, type IAA [RCV003076351]	likely benign	6	117694188	117694188	Human	1	name
156079893	CV1883435	single nucleotide variant	NM_138459.5(NUS1):c.541+5G>T	Congenital disorder of glycosylation, type IAA [RCV003079833]	uncertain significance	6	117693172	117693172	Human	1	name
156446323	CV1950741	single nucleotide variant	NM_138459.5(NUS1):c.542-9T>C	Congenital disorder of glycosylation, type IAA [RCV003117295]	likely benign	6	117694022	117694022	Human	1	name
156286998	CV2012858	single nucleotide variant	NM_138459.5(NUS1):c.791+7A>T	Congenital disorder of glycosylation, type IAA [RCV002715501]	likely benign	6	117703711	117703711	Human	1	name
156241508	CV2086001	single nucleotide variant	NM_138459.5(NUS1):c.542-9T>A	Congenital disorder of glycosylation, type IAA [RCV002876613]	likely benign	6	117694022	117694022	Human	1	name
156241921	CV2151094	single nucleotide variant	NM_138459.5(NUS1):c.542-1G>T	Congenital disorder of glycosylation, type IAA [RCV003026038]	likely pathogenic	6	117694030	117694030	Human	1	name
401947032	CV2670134	single nucleotide variant	NM_138459.5(NUS1):c.791+6T>G	Intellectual disability, autosomal dominant 55, with seizures [RCV003447461]	pathogenic	6	117703710	117703710	Human	1	name
405049308	CV2877331	single nucleotide variant	NM_138459.5(NUS1):c.791+6T>C	Congenital disorder of glycosylation, type IAA [RCV003592601]	uncertain significance	6	117703710	117703710	Human	1	name
405042556	CV2922587	single nucleotide variant	NM_138459.5(NUS1):c.792-3C>G	Congenital disorder of glycosylation, type IAA [RCV003592099]	uncertain significance	6	117706922	117706922	Human	1	name
405145714	CV3006120	single nucleotide variant	NM_138459.5(NUS1):c.415+2T>G	Congenital disorder of glycosylation, type IAA [RCV003755815]	pathogenic	6	117676087	117676087	Human	1	name
405853791	CV3395212	single nucleotide variant	NM_138459.5(NUS1):c.792-2A>G	Intellectual disability, autosomal dominant 55, with seizures [RCV004555354]	likely pathogenic	6	117706923	117706923	Human	1	name
408383346	CV3518302	single nucleotide variant	NM_138459.5(NUS1):c.791+4A>C	Intellectual disability, autosomal dominant 55, with seizures [RCV004759625]	uncertain significance	6	117703708	117703708	Human	1	name
597870268	CV3749886	single nucleotide variant	NM_138459.5(NUS1):c.541+5G>A	Congenital disorder of glycosylation, type IAA [RCV005068567]	uncertain significance	6	117693172	117693172	Human	1	name
597888015	CV3804410	single nucleotide variant	NM_138459.5(NUS1):c.691+2T>C	Congenital disorder of glycosylation, type IAA [RCV005150861]	likely pathogenic	6	117694182	117694182	Human	1	name
597861677	CV3850819	single nucleotide variant	NM_138459.5(NUS1):c.692-1G>C	Congenital disorder of glycosylation, type IAA [RCV005195952]	pathogenic	6	117703604	117703604	Human	1	name
21067520	CV790576	single nucleotide variant	NM_138459.5(NUS1):c.692-1G>A	Congenital disorder of glycosylation, type IAA [RCV000987765]	likely pathogenic	6	117703604	117703604	Human	1	name
40814540	CV969112	single nucleotide variant	NM_138459.5(NUS1):c.415+1G>A	Congenital disorder of glycosylation, type IAA [RCV005094234]\|Intellectual disability, autosomal dominant 55, with seizures [RCV001580579]\|not provided [RCV001260228]	pathogenic\|likely pathogenic	6	117676086	117676086	Human	2	name
150535630	CV1311957	single nucleotide variant	NM_138459.5(NUS1):c.542-73T>C	not provided [RCV001779767]	likely benign	6	117693958	117693958	Human		name
151741160	CV1392389	single nucleotide variant	NM_138459.5(NUS1):c.692-19G>A	Congenital disorder of glycosylation, type IAA [RCV001871034]	likely benign	6	117703586	117703586	Human	1	name
152027580	CV1520892	single nucleotide variant	NM_138459.5(NUS1):c.691+12T>A	Congenital disorder of glycosylation, type IAA [RCV002085176]	likely benign	6	117694192	117694192	Human	1	name
152142804	CV1526734	duplication	NM_138459.5(NUS1):c.691+12dup	Congenital disorder of glycosylation, type IAA [RCV002084386]	benign	6	117694185	117694186	Human	1	name
152126848	CV1533878	single nucleotide variant	NM_138459.5(NUS1):c.691+11T>A	Congenital disorder of glycosylation, type IAA [RCV002136426]	likely benign	6	117694191	117694191	Human	1	name
152109426	CV1563873	single nucleotide variant	NM_138459.5(NUS1):c.792-15G>A	Congenital disorder of glycosylation, type IAA [RCV002174143]	likely benign	6	117706910	117706910	Human	1	name
152069443	CV1570987	single nucleotide variant	NM_138459.5(NUS1):c.541+10A>C	Congenital disorder of glycosylation, type IAA [RCV002129412]\|not specified [RCV002246677]	benign\|likely benign	6	117693177	117693177	Human	1	name
152099960	CV1578671	single nucleotide variant	NM_138459.5(NUS1):c.791+17G>A	Congenital disorder of glycosylation, type IAA [RCV002151689]	likely benign	6	117703721	117703721	Human	1	name
152052566	CV1607262	single nucleotide variant	NM_138459.5(NUS1):c.792-16C>T	Congenital disorder of glycosylation, type IAA [RCV002109161]	likely benign	6	117706909	117706909	Human	1	name
152032870	CV1614907	single nucleotide variant	NM_138459.5(NUS1):c.416-10T>C	Congenital disorder of glycosylation, type IAA [RCV002086667]	likely benign	6	117693032	117693032	Human	1	name
152049761	CV1615192	single nucleotide variant	NM_138459.5(NUS1):c.792-13G>T	Congenital disorder of glycosylation, type IAA [RCV002089003]	likely benign	6	117706912	117706912	Human	1	name
152048946	CV1615832	single nucleotide variant	NM_138459.5(NUS1):c.792-17C>T	Congenital disorder of glycosylation, type IAA [RCV002166617]	likely benign	6	117706908	117706908	Human	1	name
152088592	CV1626202	single nucleotide variant	NM_138459.5(NUS1):c.691+12T>G	Congenital disorder of glycosylation, type IAA [RCV002131760]	likely benign	6	117694192	117694192	Human	1	name
152110547	CV1638251	single nucleotide variant	NM_138459.5(NUS1):c.691+19A>G	Congenital disorder of glycosylation, type IAA [RCV002196711]	likely benign	6	117694199	117694199	Human	1	name
152028174	CV1642683	single nucleotide variant	NM_138459.5(NUS1):c.541+19T>C	Congenital disorder of glycosylation, type IAA [RCV002185748]	likely benign	6	117693186	117693186	Human	1	name
152118722	CV1659072	single nucleotide variant	NM_138459.5(NUS1):c.691+13A>T	Congenital disorder of glycosylation, type IAA [RCV002175277]	likely benign	6	117694193	117694193	Human	1	name
153302455	CV1688241	microsatellite	NM_138459.5(NUS1):c.*157TG[5]	not provided [RCV002265467]	likely benign	6	117707171	117707172	Human		name
156069284	CV1883319	single nucleotide variant	NM_138459.5(NUS1):c.791+16C>T	Congenital disorder of glycosylation, type IAA [RCV003079486]	likely benign	6	117703720	117703720	Human	1	name
156405968	CV1953941	single nucleotide variant	NM_138459.5(NUS1):c.792-19C>T	Congenital disorder of glycosylation, type IAA [RCV002585762]	likely benign	6	117706906	117706906	Human	1	name
155948441	CV2127294	single nucleotide variant	NM_138459.5(NUS1):c.791+16C>G	Congenital disorder of glycosylation, type IAA [RCV002971720]	likely benign	6	117703720	117703720	Human	1	name
156362390	CV2158978	single nucleotide variant	NM_138459.5(NUS1):c.792-20C>T	Congenital disorder of glycosylation, type IAA [RCV003031659]	likely benign	6	117706905	117706905	Human	1	name
405051648	CV2880208	single nucleotide variant	NM_138459.5(NUS1):c.416-11C>T	Congenital disorder of glycosylation, type IAA [RCV003592829]	likely benign	6	117693031	117693031	Human	1	name
405201663	CV2896089	single nucleotide variant	NM_138459.5(NUS1):c.792-18C>T	Congenital disorder of glycosylation, type IAA [RCV003591240]	likely benign	6	117706907	117706907	Human	1	name
405139624	CV2936828	single nucleotide variant	NM_138459.5(NUS1):c.542-20T>C	Congenital disorder of glycosylation, type IAA [RCV003755073]	likely benign	6	117694011	117694011	Human	1	name
597941143	CV3769082	single nucleotide variant	NM_138459.5(NUS1):c.415+15G>A	Congenital disorder of glycosylation, type IAA [RCV005118577]	likely benign	6	117676100	117676100	Human	1	name
597905397	CV3803904	deletion	NM_138459.5(NUS1):c.416-17del	Congenital disorder of glycosylation, type IAA [RCV005153449]	likely benign	6	117693024	117693024	Human	1	name
597831741	CV3830710	single nucleotide variant	NM_138459.5(NUS1):c.415+14C>T	Congenital disorder of glycosylation, type IAA [RCV005170108]	likely benign	6	117676099	117676099	Human	1	name
597950319	CV3846779	single nucleotide variant	NM_138459.5(NUS1):c.415+20T>C	Congenital disorder of glycosylation, type IAA [RCV005189950]	likely benign	6	117676105	117676105	Human	1	name
597948519	CV3852514	single nucleotide variant	NM_138459.5(NUS1):c.415+20T>G	Congenital disorder of glycosylation, type IAA [RCV005189592]	likely benign	6	117676105	117676105	Human	1	name
150503473	CV1223757	single nucleotide variant	NM_138459.5(NUS1):c.415+208C>T	not provided [RCV001621406]	benign	6	117676293	117676293	Human		name
150469806	CV1259720	single nucleotide variant	NM_138459.5(NUS1):c.542-205A>G	not provided [RCV001684021]	benign	6	117693826	117693826	Human		name
150485159	CV1262035	single nucleotide variant	NM_138459.5(NUS1):c.416-334A>C	not provided [RCV001686726]	benign	6	117692708	117692708	Human		name
150477519	CV1262514	single nucleotide variant	NM_138459.5(NUS1):c.416-211C>T	not provided [RCV001685327]	benign	6	117692831	117692831	Human		name
150498098	CV1281768	single nucleotide variant	NM_138459.5(NUS1):c.792-258C>T	not provided [RCV001717959]	benign	6	117706667	117706667	Human		name
150535247	CV1294157	single nucleotide variant	NM_138459.5(NUS1):c.691+120G>A	not provided [RCV001758175]	likely benign	6	117694300	117694300	Human		name
151787929	CV1419641	microsatellite	NM_138459.5(NUS1):c.691+12TA[7]	Congenital disorder of glycosylation, type IAA [RCV001951751]	likely benign	6	117694191	117694192	Human		name
156249705	CV2097979	microsatellite	NM_138459.5(NUS1):c.692-18TATT[2]	Congenital disorder of glycosylation, type IAA [RCV002895215]	likely benign	6	117703587	117703590	Human		name
156385429	CV1893728	single nucleotide variant	NM_138459.5(NUS1):c.6G>C (p.Thr2=)	Congenital disorder of glycosylation, type IAA [RCV003093639]	likely benign	6	117675676	117675676	Human	1	name
152141340	CV1526489	deletion	NM_138459.5(NUS1):c.416-23_416-7del	Congenital disorder of glycosylation, type IAA [RCV002084196]	benign	6	117693015	117693031	Human	1	name
152097653	CV1611577	single nucleotide variant	NM_138459.5(NUS1):c.24G>A (p.Val8=)	Congenital disorder of glycosylation, type IAA [RCV002172680]	likely benign	6	117675694	117675694	Human	1	name
152107551	CV1639205	deletion	NM_138459.5(NUS1):c.791+9_791+12del	Congenital disorder of glycosylation, type IAA [RCV002152611]	likely benign	6	117703710	117703713	Human	1	name
152039649	CV1643976	single nucleotide variant	NM_138459.5(NUS1):c.24G>T (p.Val8=)	Congenital disorder of glycosylation, type IAA [RCV002125896]	likely benign	6	117675694	117675694	Human	1	name
243059927	CV2412859	duplication	NM_138459.5(NUS1):c.9dup (p.Leu4fs)	not provided [RCV003135506]	likely pathogenic	6	117675675	117675676	Human		name
407505812	CV3496076	deletion	NM_138459.5(NUS1):c.5del (p.Thr2fs)	not provided [RCV004697916]	pathogenic	6	117675675	117675675	Human		name
597833840	CV3760478	single nucleotide variant	NM_138459.5(NUS1):c.15C>T (p.Tyr5=)	Congenital disorder of glycosylation, type IAA [RCV005085221]	likely benign	6	117675685	117675685	Human	1	name
127289859	CV1116281	single nucleotide variant	NM_138459.5(NUS1):c.69C>G (p.Thr23=)	Congenital disorder of glycosylation, type IAA [RCV001458238]\|not provided [RCV003426113]	likely benign	6	117675739	117675739	Human	1	name
151793134	CV1482567	single nucleotide variant	NM_138459.5(NUS1):c.7G>A (p.Gly3Arg)	Congenital disorder of glycosylation, type IAA [RCV002047293]	uncertain significance	6	117675677	117675677	Human	1	name
152072203	CV1551599	microsatellite	NM_138459.5(NUS1):c.542-14_542-11del	Congenital disorder of glycosylation, type IAA [RCV002075256]	benign	6	117694011	117694014	Human		name
152036218	CV1617476	single nucleotide variant	NM_138459.5(NUS1):c.66C>A (p.Leu22=)	Congenital disorder of glycosylation, type IAA [RCV002125369]	likely benign	6	117675736	117675736	Human	1	name
152050719	CV1626455	single nucleotide variant	NM_138459.5(NUS1):c.36G>A (p.Leu12=)	Congenital disorder of glycosylation, type IAA [RCV002189380]	likely benign	6	117675706	117675706	Human	1	name
152129112	CV1637419	single nucleotide variant	NM_138459.5(NUS1):c.63G>C (p.Thr21=)	Congenital disorder of glycosylation, type IAA [RCV002217820]	likely benign	6	117675733	117675733	Human	1	name
152114394	CV1651231	single nucleotide variant	NM_138459.5(NUS1):c.30G>T (p.Arg10=)	Congenital disorder of glycosylation, type IAA [RCV002153470]	likely benign	6	117675700	117675700	Human	1	name
156030406	CV1910689	single nucleotide variant	NM_138459.5(NUS1):c.90C>T (p.Phe30=)	Congenital disorder of glycosylation, type IAA [RCV002619826]	likely benign	6	117675760	117675760	Human	1	name
156325432	CV1972665	single nucleotide variant	NM_138459.5(NUS1):c.30G>A (p.Arg10=)	Congenital disorder of glycosylation, type IAA [RCV002600498]	likely benign	6	117675700	117675700	Human	1	name
156012572	CV2013065	single nucleotide variant	NM_138459.5(NUS1):c.45G>C (p.Leu15=)	Congenital disorder of glycosylation, type IAA [RCV002734973]	likely benign	6	117675715	117675715	Human	1	name
405200294	CV2895401	single nucleotide variant	NM_138459.5(NUS1):c.39C>T (p.His13=)	Congenital disorder of glycosylation, type IAA [RCV003591132]	likely benign	6	117675709	117675709	Human	1	name
405142676	CV2968914	single nucleotide variant	NM_138459.5(NUS1):c.3G>A (p.Met1Ile)	Congenital disorder of glycosylation, type IAA [RCV003755406]\|NUS1-related disorder [RCV003981043]	likely pathogenic\|uncertain significance	6	117675673	117675673	Human	1	name , trait , alternate_id
405151239	CV3067983	single nucleotide variant	NM_138459.5(NUS1):c.45G>T (p.Leu15=)	Congenital disorder of glycosylation, type IAA [RCV003756353]	likely benign	6	117675715	117675715	Human	1	name
405154498	CV3072361	single nucleotide variant	NM_138459.5(NUS1):c.57C>T (p.His19=)	Congenital disorder of glycosylation, type IAA [RCV003756627]	likely benign	6	117675727	117675727	Human	1	name
408384603	CV3504392	single nucleotide variant	NM_138459.5(NUS1):c.66C>T (p.Leu22=)	NUS1-related disorder [RCV004731947]	likely benign	6	117675736	117675736	Human		name , trait , alternate_id
597951039	CV3756374	single nucleotide variant	NM_138459.5(NUS1):c.5C>T (p.Thr2Met)	Congenital disorder of glycosylation, type IAA [RCV005079431]	uncertain significance	6	117675675	117675675	Human	1	name
617150055	CV4019066	single nucleotide variant	NM_138459.5(NUS1):c.1A>G (p.Met1Val)	not provided [RCV005423474]	pathogenic	6	117675671	117675671	Human		name
15100444	CV721689	single nucleotide variant	NM_138459.5(NUS1):c.63G>T (p.Thr21=)	Congenital disorder of glycosylation, type IAA [RCV000892108]\|NUS1-related disorder [RCV003940704]\|not provided [RCV004707469]	benign\|likely benign	6	117675733	117675733	Human	1	name , trait , alternate_id
151234940	CV1320643	single nucleotide variant	NM_138459.5(NUS1):c.26G>A (p.Trp9Ter)	Intellectual disability, autosomal dominant 55, with seizures [RCV001800267]	likely pathogenic\|uncertain significance	6	117675696	117675696	Human	1	name
151663613	CV1334079	single nucleotide variant	NM_138459.5(NUS1):c.16G>C (p.Glu6Gln)	Congenital disorder of glycosylation, type IAA [RCV003754926]\|Inborn genetic diseases [RCV004953120]\|Intellectual disability, autosomal dominant 55, with seizures [RCV001839253]	uncertain significance	6	117675686	117675686	Human	3	name
151841912	CV1357534	single nucleotide variant	NM_138459.5(NUS1):c.15C>A (p.Tyr5Ter)	Congenital disorder of glycosylation, type IAA [RCV001881454]	pathogenic	6	117675685	117675685	Human	1	name
152073656	CV1551915	single nucleotide variant	NM_138459.5(NUS1):c.153G>T (p.Pro51=)	Congenital disorder of glycosylation, type IAA [RCV002075438]	likely benign	6	117675823	117675823	Human	1	name
152046110	CV1561379	single nucleotide variant	NM_138459.5(NUS1):c.264C>T (p.Arg88=)	Congenital disorder of glycosylation, type IAA [RCV002108358]	likely benign	6	117675934	117675934	Human	1	name
152120797	CV1593875	single nucleotide variant	NM_138459.5(NUS1):c.117C>T (p.Arg39=)	Congenital disorder of glycosylation, type IAA [RCV002098119]	likely benign	6	117675787	117675787	Human	1	name
152146300	CV1599956	single nucleotide variant	NM_138459.5(NUS1):c.144C>T (p.Val48=)	Congenital disorder of glycosylation, type IAA [RCV002138849]	likely benign	6	117675814	117675814	Human	1	name
152152827	CV1609018	single nucleotide variant	NM_138459.5(NUS1):c.288G>A (p.Lys96=)	Congenital disorder of glycosylation, type IAA [RCV002121994]	likely benign	6	117675958	117675958	Human	1	name
152092745	CV1648467	single nucleotide variant	NM_138459.5(NUS1):c.279C>T (p.Ser93=)	Congenital disorder of glycosylation, type IAA [RCV002077932]	likely benign	6	117675949	117675949	Human	1	name
152172506	CV1660331	single nucleotide variant	NM_138459.5(NUS1):c.180G>A (p.Pro60=)	Congenital disorder of glycosylation, type IAA [RCV002162481]	likely benign	6	117675850	117675850	Human	1	name
155799887	CV1862680	single nucleotide variant	NM_138459.5(NUS1):c.22G>T (p.Val8Leu)	Congenital disorder of glycosylation, type IAA [RCV002472087]	uncertain significance	6	117675692	117675692	Human	1	name
156114974	CV1880971	single nucleotide variant	NM_138459.5(NUS1):c.204C>T (p.His68=)	Congenital disorder of glycosylation, type IAA [RCV003081200]	likely benign	6	117675874	117675874	Human	1	name
156156448	CV1906578	single nucleotide variant	NM_138459.5(NUS1):c.117C>G (p.Arg39=)	Congenital disorder of glycosylation, type IAA [RCV003082727]	likely benign	6	117675787	117675787	Human	1	name
155928576	CV1912392	single nucleotide variant	NM_138459.5(NUS1):c.240C>G (p.Ala80=)	Congenital disorder of glycosylation, type IAA [RCV002614881]\|not provided [RCV003434581]	likely benign	6	117675910	117675910	Human	1	name
156086513	CV2034101	single nucleotide variant	NM_138459.5(NUS1):c.249C>T (p.His83=)	Congenital disorder of glycosylation, type IAA [RCV002760795]	likely benign	6	117675919	117675919	Human	1	name
156234414	CV2056212	single nucleotide variant	NM_138459.5(NUS1):c.276T>C (p.Arg92=)	Congenital disorder of glycosylation, type IAA [RCV002791118]	likely benign	6	117675946	117675946	Human	1	name
155959472	CV2078620	single nucleotide variant	NM_138459.5(NUS1):c.120C>T (p.Cys40=)	Congenital disorder of glycosylation, type IAA [RCV002880947]	likely benign	6	117675790	117675790	Human	1	name
156230359	CV2093779	single nucleotide variant	NM_138459.5(NUS1):c.114G>C (p.Arg38=)	Congenital disorder of glycosylation, type IAA [RCV002894528]	likely benign	6	117675784	117675784	Human	1	name
156319162	CV2137934	single nucleotide variant	NM_138459.5(NUS1):c.138C>G (p.Ala46=)	Congenital disorder of glycosylation, type IAA [RCV002963084]	likely benign	6	117675808	117675808	Human	1	name
155951294	CV2165013	single nucleotide variant	NM_138459.5(NUS1):c.165G>A (p.Thr55=)	Congenital disorder of glycosylation, type IAA [RCV003032448]	likely benign	6	117675835	117675835	Human	1	name
156254876	CV2209684	single nucleotide variant	NM_138459.5(NUS1):c.27G>T (p.Trp9Cys)	Inborn genetic diseases [RCV002702670]	uncertain significance	6	117675697	117675697	Human	1	name
243057555	CV2408414	single nucleotide variant	NM_138459.5(NUS1):c.23T>C (p.Val8Ala)	not provided [RCV003133096]	uncertain significance	6	117675693	117675693	Human		name
401901633	CV2802059	single nucleotide variant	NM_138459.5(NUS1):c.19C>G (p.Leu7Val)	NUS1-related disorder [RCV003392984]	uncertain significance	6	117675689	117675689	Human		name , trait , alternate_id
401915967	CV2820667	single nucleotide variant	NM_138459.5(NUS1):c.195C>T (p.Asn65=)	Congenital disorder of glycosylation, type IAA [RCV003755039]\|not provided [RCV003428936]	likely benign	6	117675865	117675865	Human	1	name
405200615	CV2899949	single nucleotide variant	NM_138459.5(NUS1):c.280T>C (p.Leu94=)	Congenital disorder of glycosylation, type IAA [RCV003591175]	likely benign	6	117675950	117675950	Human	1	name
405039591	CV2914982	single nucleotide variant	NM_138459.5(NUS1):c.156C>G (p.Leu52=)	Congenital disorder of glycosylation, type IAA [RCV003591527]	likely benign	6	117675826	117675826	Human	1	name
405139704	CV2948357	single nucleotide variant	NM_138459.5(NUS1):c.270C>T (p.Asp90=)	Congenital disorder of glycosylation, type IAA [RCV003755153]	likely benign	6	117675940	117675940	Human	1	name
405143756	CV2994238	single nucleotide variant	NM_138459.5(NUS1):c.18G>T (p.Glu6Asp)	Congenital disorder of glycosylation, type IAA [RCV003755597]	uncertain significance	6	117675688	117675688	Human	1	name
405148353	CV3035771	single nucleotide variant	NM_138459.5(NUS1):c.291G>A (p.Leu97=)	Congenital disorder of glycosylation, type IAA [RCV003756052]	likely benign	6	117675961	117675961	Human	1	name
405148449	CV3036197	single nucleotide variant	NM_138459.5(NUS1):c.231C>T (p.Cys77=)	Congenital disorder of glycosylation, type IAA [RCV003756061]	likely benign	6	117675901	117675901	Human	1	name
405148818	CV3042854	single nucleotide variant	NM_138459.5(NUS1):c.240C>A (p.Ala80=)	Congenital disorder of glycosylation, type IAA [RCV003756121]	likely benign	6	117675910	117675910	Human	1	name
405154144	CV3076212	single nucleotide variant	NM_138459.5(NUS1):c.216G>A (p.Pro72=)	Congenital disorder of glycosylation, type IAA [RCV003756523]	likely benign	6	117675886	117675886	Human	1	name
405154383	CV3077628	single nucleotide variant	NM_138459.5(NUS1):c.243A>G (p.Ala81=)	Congenital disorder of glycosylation, type IAA [RCV003756618]	likely benign	6	117675913	117675913	Human	1	name
405189336	CV3156707	single nucleotide variant	NM_138459.5(NUS1):c.225G>C (p.Gly75=)	Congenital disorder of glycosylation, type IAA [RCV003859585]	likely benign	6	117675895	117675895	Human	1	name
597893205	CV3743932	single nucleotide variant	NM_138459.5(NUS1):c.22G>C (p.Val8Leu)	Congenital disorder of glycosylation, type IAA [RCV005071402]\|Inborn genetic diseases [RCV005377710]	uncertain significance	6	117675692	117675692	Human	2	name
597849019	CV3793038	single nucleotide variant	NM_138459.5(NUS1):c.14A>T (p.Tyr5Phe)	Congenital disorder of glycosylation, type IAA [RCV005145174]	uncertain significance	6	117675684	117675684	Human	1	name
597839203	CV3824911	single nucleotide variant	NM_138459.5(NUS1):c.13T>C (p.Tyr5His)	Congenital disorder of glycosylation, type IAA [RCV005171775]	uncertain significance	6	117675683	117675683	Human	1	name
597956441	CV3838216	single nucleotide variant	NM_138459.5(NUS1):c.213C>T (p.His71=)	Congenital disorder of glycosylation, type IAA [RCV005191591]	likely benign	6	117675883	117675883	Human	1	name
597916525	CV3861012	single nucleotide variant	NM_138459.5(NUS1):c.16G>T (p.Glu6Ter)	Congenital disorder of glycosylation, type IAA [RCV005204375]	pathogenic	6	117675686	117675686	Human	1	name
14709256	CV634520	duplication	NM_138459.5(NUS1):c.99dup (p.Asn34fs)	Congenital disorder of glycosylation, type IAA [RCV000811447]	pathogenic	6	117675767	117675768	Human	1	name
126744040	CV1016632	single nucleotide variant	NM_138459.5(NUS1):c.75G>C (p.Trp25Cys)	Congenital disorder of glycosylation, type IAA [RCV001330349]\|not provided [RCV003130274]	uncertain significance	6	117675745	117675745	Human	1	name
127325655	CV1137246	single nucleotide variant	NM_138459.5(NUS1):c.822T>C (p.Tyr274=)	Congenital disorder of glycosylation, type IAA [RCV001485853]	likely benign	6	117706955	117706955	Human	1	name
127311359	CV1155267	single nucleotide variant	NM_138459.5(NUS1):c.849A>G (p.Gln283=)	Congenital disorder of glycosylation, type IAA [RCV001518585]\|not provided [RCV001535332]	benign	6	117706982	117706982	Human	1	name
150334501	CV1165767	single nucleotide variant	NM_138459.5(NUS1):c.489T>C (p.Asp163=)	Congenital disorder of glycosylation, type IAA [RCV005094731]\|not provided [RCV001531019]	likely benign\|uncertain significance	6	117693115	117693115	Human	1	name
151845151	CV1345946	single nucleotide variant	NM_138459.5(NUS1):c.52C>G (p.Leu18Val)	Congenital disorder of glycosylation, type IAA [RCV001936609]	uncertain significance	6	117675722	117675722	Human	1	name
151721706	CV1421819	single nucleotide variant	NM_138459.5(NUS1):c.29G>A (p.Arg10Gln)	Congenital disorder of glycosylation, type IAA [RCV001909834]	uncertain significance	6	117675699	117675699	Human	1	name
151748453	CV1442309	single nucleotide variant	NM_138459.5(NUS1):c.46C>T (p.Leu16Phe)	Congenital disorder of glycosylation, type IAA [RCV002043014]	uncertain significance	6	117675716	117675716	Human	1	name
152128027	CV1530713	single nucleotide variant	NM_138459.5(NUS1):c.393C>T (p.Tyr131=)	Congenital disorder of glycosylation, type IAA [RCV002082486]	likely benign	6	117676063	117676063	Human	1	name
152092631	CV1531026	single nucleotide variant	NM_138459.5(NUS1):c.870T>G (p.Arg290=)	Congenital disorder of glycosylation, type IAA [RCV002114283]	likely benign	6	117707003	117707003	Human	1	name
152097515	CV1531513	insertion	NM_138459.5(NUS1):c.791+19_791+20insAT	Congenital disorder of glycosylation, type IAA [RCV002213564]	likely benign	6	117703723	117703724	Human	1	name
152111356	CV1551411	single nucleotide variant	NM_138459.5(NUS1):c.798G>A (p.Leu266=)	Congenital disorder of glycosylation, type IAA [RCV002196818]	likely benign	6	117706931	117706931	Human	1	name
152140647	CV1571191	single nucleotide variant	NM_138459.5(NUS1):c.324G>A (p.Val108=)	Congenital disorder of glycosylation, type IAA [RCV002138132]	likely benign	6	117675994	117675994	Human	1	name
152063848	CV1575247	single nucleotide variant	NM_138459.5(NUS1):c.402C>T (p.Val134=)	Congenital disorder of glycosylation, type IAA [RCV002110475]	likely benign	6	117676072	117676072	Human	1	name
152144708	CV1582558	single nucleotide variant	NM_138459.5(NUS1):c.676T>C (p.Leu226=)	Congenital disorder of glycosylation, type IAA [RCV002201059]	likely benign	6	117694165	117694165	Human	1	name
152132392	CV1585072	single nucleotide variant	NM_138459.5(NUS1):c.762T>G (p.Leu254=)	Congenital disorder of glycosylation, type IAA [RCV002083041]	likely benign	6	117703675	117703675	Human	1	name
152102424	CV1590786	single nucleotide variant	NM_138459.5(NUS1):c.699T>C (p.Asn233=)	Congenital disorder of glycosylation, type IAA [RCV002115519]	likely benign	6	117703612	117703612	Human	1	name
152062195	CV1595006	single nucleotide variant	NM_138459.5(NUS1):c.354G>C (p.Ala118=)	Congenital disorder of glycosylation, type IAA [RCV002190661]	likely benign	6	117676024	117676024	Human	1	name
152164619	CV1595439	single nucleotide variant	NM_138459.5(NUS1):c.480G>A (p.Leu160=)	Congenital disorder of glycosylation, type IAA [RCV002204076]	likely benign	6	117693106	117693106	Human	1	name
152165974	CV1618185	single nucleotide variant	NM_138459.5(NUS1):c.612T>C (p.Ala204=)	Congenital disorder of glycosylation, type IAA [RCV002204352]	likely benign	6	117694101	117694101	Human	1	name
152117609	CV1633642	single nucleotide variant	NM_138459.5(NUS1):c.360C>A (p.Leu120=)	Congenital disorder of glycosylation, type IAA [RCV002117406]	likely benign	6	117676030	117676030	Human	1	name
152034191	CV1634811	single nucleotide variant	NM_138459.5(NUS1):c.672T>C (p.Asp224=)	Congenital disorder of glycosylation, type IAA [RCV002086928]	likely benign	6	117694161	117694161	Human	1	name
152104195	CV1645412	single nucleotide variant	NM_138459.5(NUS1):c.675G>A (p.Thr225=)	Congenital disorder of glycosylation, type IAA [RCV002133639]	likely benign	6	117694164	117694164	Human	1	name
152080609	CV1650140	single nucleotide variant	NM_138459.5(NUS1):c.573G>A (p.Leu191=)	Congenital disorder of glycosylation, type IAA [RCV002092789]	likely benign	6	117694062	117694062	Human	1	name
152142892	CV1654511	single nucleotide variant	NM_138459.5(NUS1):c.330G>A (p.Gln110=)	Congenital disorder of glycosylation, type IAA [RCV002200806]	likely benign	6	117676000	117676000	Human	1	name
152049392	CV1657030	single nucleotide variant	NM_138459.5(NUS1):c.459A>G (p.Leu153=)	Congenital disorder of glycosylation, type IAA [RCV002189212]	likely benign	6	117693085	117693085	Human	1	name
153346494	CV1691774	single nucleotide variant	NM_138459.5(NUS1):c.99G>A (p.Trp33Ter)	Intellectual disability, autosomal dominant 55, with seizures [RCV002273257]	pathogenic	6	117675769	117675769	Human	1	name
155645744	CV1709098	single nucleotide variant	NM_138459.5(NUS1):c.49T>C (p.Cys17Arg)	Congenital disorder of glycosylation, type IAA [RCV003097802]\|not provided [RCV002291974]	uncertain significance	6	117675719	117675719	Human	1	name
155742442	CV1777253	single nucleotide variant	NM_138459.5(NUS1):c.56A>T (p.His19Leu)	Congenital disorder of glycosylation, type IAA [RCV002302913]	uncertain significance	6	117675726	117675726	Human	1	name
155730871	CV1780908	single nucleotide variant	NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)	Congenital disorder of glycosylation, type IAA [RCV003775021]\|not specified [RCV002308698]	uncertain significance	6	117675767	117675767	Human	1	name
156406912	CV1891454	single nucleotide variant	NM_138459.5(NUS1):c.585T>C (p.Asp195=)	Congenital disorder of glycosylation, type IAA [RCV003070550]	likely benign	6	117694074	117694074	Human	1	name
156290035	CV1897391	single nucleotide variant	NM_138459.5(NUS1):c.796T>C (p.Leu266=)	Congenital disorder of glycosylation, type IAA [RCV002598715]	likely benign	6	117706929	117706929	Human	1	name
156142494	CV1898641	single nucleotide variant	NM_138459.5(NUS1):c.648G>A (p.Lys216=)	Congenital disorder of glycosylation, type IAA [RCV003082257]	likely benign	6	117694137	117694137	Human	1	name
156051000	CV1923907	single nucleotide variant	NM_138459.5(NUS1):c.621T>C (p.Phe207=)	Congenital disorder of glycosylation, type IAA [RCV002637935]	benign	6	117694110	117694110	Human	1	name
156417512	CV1967000	single nucleotide variant	NM_138459.5(NUS1):c.882G>A (p.Ter294=)	Congenital disorder of glycosylation, type IAA [RCV002590229]	likely benign\|uncertain significance	6	117707015	117707015	Human	1	name
156074610	CV2011743	single nucleotide variant	NM_138459.5(NUS1):c.810A>G (p.Leu270=)	Congenital disorder of glycosylation, type IAA [RCV002705791]	likely benign	6	117706943	117706943	Human	1	name
156088778	CV2017379	single nucleotide variant	NM_138459.5(NUS1):c.390C>G (p.Ser130=)	Congenital disorder of glycosylation, type IAA [RCV002694866]	likely benign	6	117676060	117676060	Human	1	name
156153568	CV2023174	single nucleotide variant	NM_138459.5(NUS1):c.95C>T (p.Thr32Ile)	Congenital disorder of glycosylation, type IAA [RCV002741299]	uncertain significance	6	117675765	117675765	Human	1	name
156229434	CV2048606	single nucleotide variant	NM_138459.5(NUS1):c.540A>G (p.Gln180=)	Congenital disorder of glycosylation, type IAA [RCV002790939]	uncertain significance	6	117693166	117693166	Human	1	name
156287824	CV2058208	duplication	NM_138459.5(NUS1):c.250dup (p.Arg84fs)	Congenital disorder of glycosylation, type IAA [RCV002833076]	pathogenic	6	117675918	117675919	Human	1	name
155999642	CV2106681	single nucleotide variant	NM_138459.5(NUS1):c.68C>T (p.Thr23Ile)	Congenital disorder of glycosylation, type IAA [RCV002947725]\|not provided [RCV003134554]\|not specified [RCV004765603]	uncertain significance	6	117675738	117675738	Human	1	name
155901526	CV2126965	single nucleotide variant	NM_138459.5(NUS1):c.28C>T (p.Arg10Trp)	Congenital disorder of glycosylation, type IAA [RCV002967451]\|Inborn genetic diseases [RCV004654067]	uncertain significance	6	117675698	117675698	Human	2	name
156034895	CV2128110	single nucleotide variant	NM_138459.5(NUS1):c.35T>C (p.Leu12Pro)	Congenital disorder of glycosylation, type IAA [RCV002958042]\|Inborn genetic diseases [RCV002923673]	uncertain significance	6	117675705	117675705	Human	2	name
156097273	CV2152229	single nucleotide variant	NM_138459.5(NUS1):c.750A>G (p.Thr250=)	Congenital disorder of glycosylation, type IAA [RCV003020914]	likely benign	6	117703663	117703663	Human	1	name
156350902	CV2189659	single nucleotide variant	NM_138459.5(NUS1):c.825G>A (p.Glu275=)	Congenital disorder of glycosylation, type IAA [RCV003048326]	likely benign	6	117706958	117706958	Human	1	name
329396842	CV2468255	single nucleotide variant	NM_138459.5(NUS1):c.28C>G (p.Arg10Gly)	Inborn genetic diseases [RCV003219746]	uncertain significance	6	117675698	117675698	Human	1	name
405051802	CV2884617	single nucleotide variant	NM_138459.5(NUS1):c.573G>T (p.Leu191=)	Congenital disorder of glycosylation, type IAA [RCV003592923]	likely benign	6	117694062	117694062	Human	1	name
405052300	CV2885189	single nucleotide variant	NM_138459.5(NUS1):c.828C>T (p.Asp276=)	Congenital disorder of glycosylation, type IAA [RCV003592970]	likely benign	6	117706961	117706961	Human	1	name
405051458	CV2891140	single nucleotide variant	NM_138459.5(NUS1):c.765C>T (p.Pro255=)	Congenital disorder of glycosylation, type IAA [RCV003592895]	likely benign	6	117703678	117703678	Human	1	name
405056718	CV2899399	single nucleotide variant	NM_138459.5(NUS1):c.669A>T (p.Val223=)	Congenital disorder of glycosylation, type IAA [RCV003593357]	likely benign	6	117694158	117694158	Human	1	name
405038874	CV2916518	single nucleotide variant	NM_138459.5(NUS1):c.417T>C (p.Gly139=)	Congenital disorder of glycosylation, type IAA [RCV003591457]	likely benign	6	117693043	117693043	Human	1	name
405042600	CV2931898	single nucleotide variant	NM_138459.5(NUS1):c.627G>A (p.Gln209=)	Congenital disorder of glycosylation, type IAA [RCV003592103]	likely benign	6	117694116	117694116	Human	1	name
405139426	CV2944519	single nucleotide variant	NM_138459.5(NUS1):c.807C>T (p.His269=)	Congenital disorder of glycosylation, type IAA [RCV003755121]	likely benign	6	117706940	117706940	Human	1	name
405142869	CV2981417	single nucleotide variant	NM_138459.5(NUS1):c.59G>C (p.Arg20Pro)	Congenital disorder of glycosylation, type IAA [RCV003755507]	uncertain significance	6	117675729	117675729	Human	1	name
405143032	CV2981916	single nucleotide variant	NM_138459.5(NUS1):c.567G>A (p.Lys189=)	Congenital disorder of glycosylation, type IAA [RCV003755527]	likely benign	6	117694056	117694056	Human	1	name
405145004	CV2997409	single nucleotide variant	NM_138459.5(NUS1):c.867G>A (p.Gln289=)	Congenital disorder of glycosylation, type IAA [RCV003755728]	likely benign	6	117707000	117707000	Human	1	name
405145484	CV2999549	single nucleotide variant	NM_138459.5(NUS1):c.336C>T (p.Pro112=)	Congenital disorder of glycosylation, type IAA [RCV003755662]	likely benign	6	117676006	117676006	Human	1	name
405145867	CV3006676	deletion	NM_138459.5(NUS1):c.225del (p.Ser76fs)	Congenital disorder of glycosylation, type IAA [RCV003755833]	pathogenic	6	117675890	117675890	Human	1	name
405147436	CV3020025	single nucleotide variant	NM_138459.5(NUS1):c.756C>T (p.Gly252=)	Congenital disorder of glycosylation, type IAA [RCV003755959]	likely benign	6	117703669	117703669	Human	1	name
405152689	CV3070276	single nucleotide variant	NM_138459.5(NUS1):c.519T>C (p.Asn173=)	Congenital disorder of glycosylation, type IAA [RCV003756477]	likely benign	6	117693145	117693145	Human	1	name
405226676	CV3142564	single nucleotide variant	NM_138459.5(NUS1):c.94A>G (p.Thr32Ala)	Congenital disorder of glycosylation, type IAA [RCV003848103]	uncertain significance	6	117675764	117675764	Human	1	name
405204912	CV3144166	single nucleotide variant	NM_138459.5(NUS1):c.351C>T (p.Ile117=)	Congenital disorder of glycosylation, type IAA [RCV003844956]	likely benign	6	117676021	117676021	Human	1	name
405168954	CV3149887	single nucleotide variant	NM_138459.5(NUS1):c.76C>T (p.Leu26Phe)	Congenital disorder of glycosylation, type IAA [RCV003841358]\|not provided [RCV004780676]	uncertain significance	6	117675746	117675746	Human	1	name
405076829	CV3156221	single nucleotide variant	NM_138459.5(NUS1):c.681C>G (p.Ala227=)	Congenital disorder of glycosylation, type IAA [RCV003851279]	likely benign	6	117694170	117694170	Human	1	name
405237012	CV3169079	single nucleotide variant	NM_138459.5(NUS1):c.354G>A (p.Ala118=)	Congenital disorder of glycosylation, type IAA [RCV003866358]	likely benign	6	117676024	117676024	Human	1	name
402518616	CV3179136	single nucleotide variant	NM_138459.5(NUS1):c.390C>T (p.Ser130=)	Congenital disorder of glycosylation, type IAA [RCV003879569]	likely benign	6	117676060	117676060	Human	1	name
402504610	CV3181482	single nucleotide variant	NM_138459.5(NUS1):c.57C>G (p.His19Gln)	Congenital disorder of glycosylation, type IAA [RCV003878316]	uncertain significance	6	117675727	117675727	Human	1	name
407424936	CV3410999	single nucleotide variant	NM_138459.5(NUS1):c.32T>C (p.Val11Ala)	not provided [RCV004588689]	uncertain significance	6	117675702	117675702	Human		name
596927312	CV3536608	single nucleotide variant	NM_138459.5(NUS1):c.51T>A (p.Cys17Ter)	Congenital disorder of glycosylation, type IAA [RCV004790017]	pathogenic	6	117675721	117675721	Human	1	name
597691104	CV3570146	single nucleotide variant	NM_138459.5(NUS1):c.58C>T (p.Arg20Cys)	Inborn genetic diseases [RCV004954164]	uncertain significance	6	117675728	117675728	Human	1	name
597922239	CV3738480	single nucleotide variant	NM_138459.5(NUS1):c.384C>T (p.Gly128=)	Congenital disorder of glycosylation, type IAA [RCV005074887]	likely benign	6	117676054	117676054	Human	1	name
597884349	CV3780587	deletion	NM_138459.5(NUS1):c.111del (p.Trp37fs)	Congenital disorder of glycosylation, type IAA [RCV005124715]	pathogenic	6	117675780	117675780	Human	1	name
597880101	CV3783574	single nucleotide variant	NM_138459.5(NUS1):c.312G>A (p.Val104=)	Congenital disorder of glycosylation, type IAA [RCV005124070]	likely benign	6	117675982	117675982	Human	1	name
597869478	CV3784090	single nucleotide variant	NM_138459.5(NUS1):c.372T>C (p.Cys124=)	Congenital disorder of glycosylation, type IAA [RCV005122394]	likely benign	6	117676042	117676042	Human	1	name
597932749	CV3789851	single nucleotide variant	NM_138459.5(NUS1):c.483C>A (p.Gly161=)	Congenital disorder of glycosylation, type IAA [RCV005131930]	likely benign	6	117693109	117693109	Human	1	name
597965789	CV3793848	single nucleotide variant	NM_138459.5(NUS1):c.58C>G (p.Arg20Gly)	Congenital disorder of glycosylation, type IAA [RCV005140230]	uncertain significance	6	117675728	117675728	Human	1	name
597900837	CV3796618	single nucleotide variant	NM_138459.5(NUS1):c.62C>T (p.Thr21Met)	Congenital disorder of glycosylation, type IAA [RCV005152700]	uncertain significance	6	117675732	117675732	Human	1	name
597934646	CV3810969	single nucleotide variant	NM_138459.5(NUS1):c.89T>G (p.Phe30Cys)	Congenital disorder of glycosylation, type IAA [RCV005157678]	uncertain significance	6	117675759	117675759	Human	1	name
597836113	CV3828363	single nucleotide variant	NM_138459.5(NUS1):c.71C>T (p.Ser24Phe)	Congenital disorder of glycosylation, type IAA [RCV005171255]	uncertain significance	6	117675741	117675741	Human	1	name
597869798	CV3839292	single nucleotide variant	NM_138459.5(NUS1):c.342C>T (p.Phe114=)	Congenital disorder of glycosylation, type IAA [RCV005176403]	likely benign	6	117676012	117676012	Human	1	name
598130025	CV3886360	deletion	NM_138459.5(NUS1):c.279del (p.Leu94fs)	Intellectual disability, autosomal dominant 55, with seizures [RCV005244157]	pathogenic	6	117675948	117675948	Human	1	name
15165010	CV721690	single nucleotide variant	NM_138459.5(NUS1):c.732C>T (p.Phe244=)	Congenital disorder of glycosylation, type IAA [RCV002065473]\|not provided [RCV003424440]	benign\|likely benign	6	117703645	117703645	Human	1	name
15146035	CV735386	single nucleotide variant	NM_138459.5(NUS1):c.318C>T (p.Thr106=)	Congenital disorder of glycosylation, type IAA [RCV000900258]\|NUS1-related disorder [RCV003968239]\|not provided [RCV003432890]	likely benign	6	117675988	117675988	Human	1	name , trait , alternate_id
15125559	CV749783	single nucleotide variant	NM_138459.5(NUS1):c.843T>G (p.Leu281=)	Congenital disorder of glycosylation, type IAA [RCV005092741]	likely benign	6	117706976	117706976	Human	1	name
15185774	CV765448	single nucleotide variant	NM_138459.5(NUS1):c.378C>T (p.Ala126=)	Congenital disorder of glycosylation, type IAA [RCV003591810]\|NUS1-related disorder [RCV003960482]	likely benign	6	117676048	117676048	Human	1	name , trait , alternate_id
15178411	CV765449	single nucleotide variant	NM_138459.5(NUS1):c.561A>T (p.Ala187=)	Congenital disorder of glycosylation, type IAA [RCV002544413]	likely benign	6	117694050	117694050	Human	1	name
38596991	CV801816	single nucleotide variant	NM_138459.5(NUS1):c.82G>C (p.Val28Leu)	Microcephaly [RCV001252756]	uncertain significance	6	117675752	117675752	Human	2	name
38475156	CV933146	single nucleotide variant	NM_138459.5(NUS1):c.74G>A (p.Trp25Ter)	Congenital disorder of glycosylation, type IAA [RCV001204153]	pathogenic	6	117675744	117675744	Human	1	name
38492832	CV954332	single nucleotide variant	NM_138459.5(NUS1):c.579G>A (p.Pro193=)	Congenital disorder of glycosylation, type IAA [RCV001240313]\|not provided [RCV004692295]	likely benign\|uncertain significance	6	117694068	117694068	Human	1	name
126744033	CV1016633	single nucleotide variant	NM_138459.5(NUS1):c.250C>G (p.Arg84Gly)	Intellectual disability, autosomal dominant 55, with seizures [RCV001330348]	uncertain significance	6	117675920	117675920	Human	1	name
126737822	CV1020159	single nucleotide variant	NM_138459.5(NUS1):c.246C>G (p.His82Gln)	Congenital disorder of glycosylation, type IAA [RCV001335391]\|Inborn genetic diseases [RCV003169564]	likely benign\|uncertain significance	6	117675916	117675916	Human	2	name
126924724	CV1043910	single nucleotide variant	NM_138459.5(NUS1):c.127G>A (p.Ala43Thr)	Congenital disorder of glycosylation, type IAA [RCV001367357]	uncertain significance	6	117675797	117675797	Human	1	name
150548511	CV1316381	insertion	NM_138459.5(NUS1):c.415+203_415+204insG	not provided [RCV001786183]	likely benign	6	117676288	117676289	Human		name
151820898	CV1338329	single nucleotide variant	NM_138459.5(NUS1):c.199C>A (p.Arg67Ser)	Congenital disorder of glycosylation, type IAA [RCV001900872]	uncertain significance	6	117675869	117675869	Human	1	name
151810616	CV1345158	single nucleotide variant	NM_138459.5(NUS1):c.185T>G (p.Val62Gly)	Congenital disorder of glycosylation, type IAA [RCV001878232]	uncertain significance	6	117675855	117675855	Human	1	name
151835984	CV1347166	single nucleotide variant	NM_138459.5(NUS1):c.224G>A (p.Gly75Glu)	Congenital disorder of glycosylation, type IAA [RCV002031293]	uncertain significance	6	117675894	117675894	Human	1	name
151817074	CV1356392	single nucleotide variant	NM_138459.5(NUS1):c.174G>T (p.Lys58Asn)	Congenital disorder of glycosylation, type IAA [RCV001919194]\|not provided [RCV002074438]	likely benign\|uncertain significance	6	117675844	117675844	Human	1	name
151812104	CV1359576	single nucleotide variant	NM_138459.5(NUS1):c.262C>T (p.Arg88Cys)	Congenital disorder of glycosylation, type IAA [RCV001991934]	uncertain significance	6	117675932	117675932	Human	1	name
151744037	CV1367988	single nucleotide variant	NM_138459.5(NUS1):c.202C>T (p.His68Tyr)	Congenital disorder of glycosylation, type IAA [RCV001871312]	uncertain significance	6	117675872	117675872	Human	1	name
151834307	CV1394115	single nucleotide variant	NM_138459.5(NUS1):c.154C>G (p.Leu52Val)	Congenital disorder of glycosylation, type IAA [RCV002051039]	uncertain significance	6	117675824	117675824	Human	1	name
151881577	CV1395870	single nucleotide variant	NM_138459.5(NUS1):c.214C>A (p.Pro72Thr)	Congenital disorder of glycosylation, type IAA [RCV002036969]	uncertain significance	6	117675884	117675884	Human	1	name
151741233	CV1425384	single nucleotide variant	NM_138459.5(NUS1):c.123C>G (p.Cys41Trp)	Congenital disorder of glycosylation, type IAA [RCV001926483]	uncertain significance	6	117675793	117675793	Human	1	name
151832648	CV1447887	single nucleotide variant	NM_138459.5(NUS1):c.271G>A (p.Gly91Ser)	Congenital disorder of glycosylation, type IAA [RCV001920641]\|Inborn genetic diseases [RCV005374891]	uncertain significance	6	117675941	117675941	Human	2	name
151876953	CV1484580	single nucleotide variant	NM_138459.5(NUS1):c.175C>T (p.Pro59Ser)	Congenital disorder of glycosylation, type IAA [RCV001982024]	uncertain significance	6	117675845	117675845	Human	1	name
151828478	CV1489128	single nucleotide variant	NM_138459.5(NUS1):c.166C>T (p.Leu56Phe)	Congenital disorder of glycosylation, type IAA [RCV001934825]\|Inborn genetic diseases [RCV002548076]	uncertain significance	6	117675836	117675836	Human	2	name
153001853	CV1682714	microsatellite	NM_138459.5(NUS1):c.25_26del (p.Trp9fs)	not provided [RCV002251793]	pathogenic	6	117675692	117675693	Human		name
155715840	CV1774142	single nucleotide variant	NM_138459.5(NUS1):c.223G>T (p.Gly75Trp)	Congenital disorder of glycosylation, type IAA [RCV002296419]	uncertain significance	6	117675893	117675893	Human	1	name
155749714	CV1774662	single nucleotide variant	NM_138459.5(NUS1):c.178C>G (p.Pro60Ala)	Congenital disorder of glycosylation, type IAA [RCV002304940]	uncertain significance	6	117675848	117675848	Human	1	name
155681109	CV1776692	single nucleotide variant	NM_138459.5(NUS1):c.130G>A (p.Ala44Thr)	Congenital disorder of glycosylation, type IAA [RCV002298240]	uncertain significance	6	117675800	117675800	Human	1	name
155706059	CV1778284	single nucleotide variant	NM_138459.5(NUS1):c.133T>C (p.Ser45Pro)	Congenital disorder of glycosylation, type IAA [RCV002295917]	uncertain significance	6	117675803	117675803	Human	1	name
155706072	CV1778286	single nucleotide variant	NM_138459.5(NUS1):c.136G>C (p.Ala46Pro)	Congenital disorder of glycosylation, type IAA [RCV002295919]	uncertain significance	6	117675806	117675806	Human	1	name
156387071	CV1890440	single nucleotide variant	NM_138459.5(NUS1):c.108C>G (p.Ile36Met)	Congenital disorder of glycosylation, type IAA [RCV003093782]\|not provided [RCV003134637]	uncertain significance	6	117675778	117675778	Human	1	name
156400109	CV1892776	single nucleotide variant	NM_138459.5(NUS1):c.221G>A (p.Gly74Glu)	Congenital disorder of glycosylation, type IAA [RCV003069052]\|not provided [RCV003138494]	uncertain significance	6	117675891	117675891	Human	1	name
155939009	CV1892787	single nucleotide variant	NM_138459.5(NUS1):c.119G>A (p.Cys40Tyr)	Congenital disorder of glycosylation, type IAA [RCV002571604]\|Intellectual disability, autosomal dominant 55, with seizures [RCV002510754]	uncertain significance	6	117675789	117675789	Human	2	name
156276763	CV1911910	single nucleotide variant	NM_138459.5(NUS1):c.197G>A (p.Arg66His)	Congenital disorder of glycosylation, type IAA [RCV002628292]	uncertain significance	6	117675867	117675867	Human	1	name
156368685	CV1919912	single nucleotide variant	NM_138459.5(NUS1):c.220G>T (p.Gly74Trp)	Congenital disorder of glycosylation, type IAA [RCV002603010]\|Inborn genetic diseases [RCV004654148]	uncertain significance	6	117675890	117675890	Human	2	name
156419406	CV1932781	single nucleotide variant	NM_138459.5(NUS1):c.199C>T (p.Arg67Cys)	Congenital disorder of glycosylation, type IAA [RCV002612638]	uncertain significance	6	117675869	117675869	Human	1	name
156442016	CV1941679	single nucleotide variant	NM_138459.5(NUS1):c.158G>A (p.Gly53Asp)	Congenital disorder of glycosylation, type IAA [RCV003112352]\|not provided [RCV003434695]	uncertain significance	6	117675828	117675828	Human	1	name
156376769	CV1956671	single nucleotide variant	NM_138459.5(NUS1):c.200G>C (p.Arg67Pro)	Congenital disorder of glycosylation, type IAA [RCV002582868]	uncertain significance	6	117675870	117675870	Human	1	name
156392375	CV2005909	single nucleotide variant	NM_138459.5(NUS1):c.215C>T (p.Pro72Leu)	Congenital disorder of glycosylation, type IAA [RCV002680894]	uncertain significance	6	117675885	117675885	Human	1	name
156098859	CV2042081	single nucleotide variant	NM_138459.5(NUS1):c.209G>A (p.Arg70Gln)	Congenital disorder of glycosylation, type IAA [RCV002761238]	uncertain significance	6	117675879	117675879	Human	1	name
156023553	CV2043322	single nucleotide variant	NM_138459.5(NUS1):c.274C>A (p.Arg92Ser)	Congenital disorder of glycosylation, type IAA [RCV002780774]	uncertain significance	6	117675944	117675944	Human	1	name
156265682	CV2125272	single nucleotide variant	NM_138459.5(NUS1):c.214C>T (p.Pro72Ser)	Congenital disorder of glycosylation, type IAA [RCV002934044]\|Inborn genetic diseases [RCV002966145]	likely benign\|uncertain significance	6	117675884	117675884	Human	2	name
156054956	CV2137386	single nucleotide variant	NM_138459.5(NUS1):c.105G>T (p.Trp35Cys)	Congenital disorder of glycosylation, type IAA [RCV003000000]	uncertain significance	6	117675775	117675775	Human	1	name
156268692	CV2167902	deletion	NM_138459.5(NUS1):c.482del (p.Gly161fs)	Congenital disorder of glycosylation, type IAA [RCV003026908]	pathogenic	6	117693106	117693106	Human	1	name
156284204	CV2288959	single nucleotide variant	NM_138459.5(NUS1):c.128C>G (p.Ala43Gly)	Inborn genetic diseases [RCV002878391]	uncertain significance	6	117675798	117675798	Human	1	name
156149155	CV2321894	single nucleotide variant	NM_138459.5(NUS1):c.277T>A (p.Ser93Thr)	Congenital disorder of glycosylation, type IAA [RCV003591990]\|Inborn genetic diseases [RCV002954544]	uncertain significance	6	117675947	117675947	Human	2	name
243055480	CV2408413	single nucleotide variant	NM_138459.5(NUS1):c.220G>A (p.Gly74Arg)	not provided [RCV003131846]	uncertain significance	6	117675890	117675890	Human		name
401721588	CV2683574	single nucleotide variant	NM_138459.5(NUS1):c.169C>T (p.Arg57Cys)	Congenital disorder of glycosylation, type IAA [RCV003592009]\|Inborn genetic diseases [RCV003244488]	uncertain significance	6	117675839	117675839	Human	2	name
401756358	CV2687108	single nucleotide variant	NM_138459.5(NUS1):c.152C>T (p.Pro51Leu)	Inborn genetic diseases [RCV003255610]	uncertain significance	6	117675822	117675822	Human	1	name
401798350	CV2741443	duplication	NM_138459.5(NUS1):c.677dup (p.Leu226fs)	Intellectual disability, autosomal dominant 55, with seizures [RCV003322661]	likely pathogenic	6	117694164	117694165	Human	1	name
401937651	CV2798934	single nucleotide variant	NM_138459.5(NUS1):c.213C>G (p.His71Gln)	NUS1-related disorder [RCV003416742]	uncertain significance	6	117675883	117675883	Human		name , trait , alternate_id
405039579	CV2914976	deletion	NM_138459.5(NUS1):c.378del (p.Val127fs)	Congenital disorder of glycosylation, type IAA [RCV003591526]	pathogenic	6	117676047	117676047	Human	1	name
405139877	CV2942373	single nucleotide variant	NM_138459.5(NUS1):c.125G>C (p.Arg42Pro)	Congenital disorder of glycosylation, type IAA [RCV003755171]	uncertain significance	6	117675795	117675795	Human	1	name
405142008	CV2965108	single nucleotide variant	NM_138459.5(NUS1):c.170G>T (p.Arg57Leu)	Congenital disorder of glycosylation, type IAA [RCV003755407]	uncertain significance	6	117675840	117675840	Human	1	name
405145740	CV3006233	single nucleotide variant	NM_138459.5(NUS1):c.110G>A (p.Trp37Ter)	Congenital disorder of glycosylation, type IAA [RCV003755818]	pathogenic	6	117675780	117675780	Human	1	name
405149037	CV3042469	single nucleotide variant	NM_138459.5(NUS1):c.277T>G (p.Ser93Ala)	Congenital disorder of glycosylation, type IAA [RCV003756098]	uncertain significance	6	117675947	117675947	Human	1	name
405149806	CV3054965	single nucleotide variant	NM_138459.5(NUS1):c.124C>T (p.Arg42Cys)	Congenital disorder of glycosylation, type IAA [RCV003756221]	uncertain significance	6	117675794	117675794	Human	1	name
405150657	CV3066928	single nucleotide variant	NM_138459.5(NUS1):c.236C>T (p.Ala79Val)	Congenital disorder of glycosylation, type IAA [RCV003756300]\|Inborn genetic diseases [RCV005377527]	uncertain significance	6	117675906	117675906	Human	2	name
405154230	CV3076357	single nucleotide variant	NM_138459.5(NUS1):c.178C>T (p.Pro60Ser)	Congenital disorder of glycosylation, type IAA [RCV003756526]	uncertain significance	6	117675848	117675848	Human	1	name
405218302	CV3135694	single nucleotide variant	NM_138459.5(NUS1):c.254T>A (p.Met85Lys)	Congenital disorder of glycosylation, type IAA [RCV003824319]	uncertain significance	6	117675924	117675924	Human	1	name
405108672	CV3136708	single nucleotide variant	NM_138459.5(NUS1):c.226T>G (p.Ser76Ala)	Congenital disorder of glycosylation, type IAA [RCV003835862]	uncertain significance	6	117675896	117675896	Human	1	name
405240814	CV3176813	single nucleotide variant	NM_138459.5(NUS1):c.274C>G (p.Arg92Gly)	Congenital disorder of glycosylation, type IAA [RCV003867251]	uncertain significance	6	117675944	117675944	Human	1	name
405291533	CV3205775	duplication	NM_138459.5(NUS1):c.380dup (p.Ile129fs)	NUS1-related disorder [RCV003963907]	likely pathogenic	6	117676049	117676050	Human		name , trait , alternate_id
405681059	CV3352562	single nucleotide variant	NM_138459.5(NUS1):c.196C>G (p.Arg66Gly)	Inborn genetic diseases [RCV004488695]	likely benign	6	117675866	117675866	Human	1	name
405681063	CV3352563	single nucleotide variant	NM_138459.5(NUS1):c.247C>T (p.His83Tyr)	Inborn genetic diseases [RCV004488696]	uncertain significance	6	117675917	117675917	Human	1	name
407428977	CV3413364	duplication	NM_138459.5(NUS1):c.647dup (p.Arg217fs)	Intellectual disability, autosomal dominant 55, with seizures [RCV004594770]	pathogenic	6	117694132	117694133	Human	1	name
408385014	CV3506588	single nucleotide variant	NM_138459.5(NUS1):c.290T>A (p.Leu97Gln)	Congenital disorder of glycosylation, type IAA [RCV005103649]\|NUS1-related disorder [RCV004732253]	uncertain significance	6	117675960	117675960	Human	1	name , trait , alternate_id
596947300	CV3548850	duplication	NM_138459.5(NUS1):c.622dup (p.Cys208fs)	not provided [RCV004811174]	pathogenic	6	117694107	117694108	Human		name
596947631	CV3549190	duplication	NM_138459.5(NUS1):c.367dup (p.Trp123fs)	not provided [RCV004811514]	pathogenic	6	117676036	117676037	Human		name
596938409	CV3550253	single nucleotide variant	NM_138459.5(NUS1):c.162C>G (p.Phe54Leu)	Congenital disorder of glycosylation, type IAA [RCV004813555]	uncertain significance	6	117675832	117675832	Human	1	name
597657461	CV3731680	single nucleotide variant	NM_138459.5(NUS1):c.218G>A (p.Arg73His)	not provided [RCV005001861]	uncertain significance	6	117675888	117675888	Human		name
597857570	CV3769518	single nucleotide variant	NM_138459.5(NUS1):c.295G>T (p.Val99Leu)	Congenital disorder of glycosylation, type IAA [RCV005105559]	uncertain significance	6	117675965	117675965	Human	1	name
597902120	CV3779200	deletion	NM_138459.5(NUS1):c.427del (p.Arg143fs)	Congenital disorder of glycosylation, type IAA [RCV005127277]	pathogenic	6	117693050	117693050	Human	1	name
597885304	CV3780717	single nucleotide variant	NM_138459.5(NUS1):c.245A>T (p.His82Leu)	Congenital disorder of glycosylation, type IAA [RCV005124845]	uncertain significance	6	117675915	117675915	Human	1	name
597863548	CV3814042	single nucleotide variant	NM_138459.5(NUS1):c.217C>T (p.Arg73Cys)	Congenital disorder of glycosylation, type IAA [RCV005147111]	uncertain significance	6	117675887	117675887	Human	1	name
597965891	CV3823630	single nucleotide variant	NM_138459.5(NUS1):c.251G>A (p.Arg84Gln)	Congenital disorder of glycosylation, type IAA [RCV005165050]	uncertain significance	6	117675921	117675921	Human	1	name
597840777	CV3825413	single nucleotide variant	NM_138459.5(NUS1):c.268G>A (p.Asp90Asn)	Congenital disorder of glycosylation, type IAA [RCV005172096]	uncertain significance	6	117675938	117675938	Human	1	name
597871958	CV3835798	single nucleotide variant	NM_138459.5(NUS1):c.112C>T (p.Arg38Trp)	Congenital disorder of glycosylation, type IAA [RCV005176789]	uncertain significance	6	117675782	117675782	Human	1	name
597920029	CV3842546	single nucleotide variant	NM_138459.5(NUS1):c.106A>T (p.Ile36Phe)	Congenital disorder of glycosylation, type IAA [RCV005184031]	uncertain significance	6	117675776	117675776	Human	1	name
597858894	CV3850258	single nucleotide variant	NM_138459.5(NUS1):c.259T>G (p.Trp87Gly)	Congenital disorder of glycosylation, type IAA [RCV005195591]	uncertain significance	6	117675929	117675929	Human	1	name
598222658	CV3892279	duplication	NM_138459.5(NUS1):c.314dup (p.Thr106fs)	Intellectual disability, autosomal dominant 55, with seizures [RCV005253618]	likely pathogenic	6	117675983	117675984	Human	1	name
598235636	CV4004894	single nucleotide variant	NM_138459.5(NUS1):c.292C>T (p.Pro98Ser)	Inborn genetic diseases [RCV005382038]	uncertain significance	6	117675962	117675962	Human	1	name
616934372	CV4012370	single nucleotide variant	NM_138459.5(NUS1):c.220G>C (p.Gly74Arg)	not specified [RCV005409406]	uncertain significance	6	117675890	117675890	Human		name
616938098	CV4013898	single nucleotide variant	NM_138459.5(NUS1):c.145C>A (p.Leu49Ile)	Intellectual disability, autosomal dominant 55, with seizures [RCV005413390]	uncertain significance	6	117675815	117675815	Human	1	name
13506434	CV480768	deletion	NM_138459.5(NUS1):c.743del (p.Asp248fs)	Intellectual disability, autosomal dominant 55, with seizures [RCV000577851]	pathogenic	6	117703656	117703656	Human	1	name
15166072	CV699279	single nucleotide variant	NM_138459.5(NUS1):c.197G>C (p.Arg66Pro)	Congenital disorder of glycosylation, type IAA [RCV000948745]\|NUS1-related disorder [RCV003978178]\|not provided [RCV001776072]	benign\|likely benign	6	117675867	117675867	Human	1	name , trait , alternate_id
38476543	CV933147	single nucleotide variant	NM_138459.5(NUS1):c.100A>G (p.Asn34Asp)	Congenital disorder of glycosylation, type IAA [RCV001204730]	uncertain significance	6	117675770	117675770	Human	1	name
40887555	CV973496	single nucleotide variant	NM_138459.5(NUS1):c.104G>A (p.Trp35Ter)	Inborn genetic diseases [RCV001267175]	pathogenic	6	117675774	117675774	Human	1	name
150529740	CV1292957	single nucleotide variant	NM_138459.5(NUS1):c.650G>T (p.Arg217Ile)	Congenital disorder of glycosylation, type IAA [RCV002032758]\|Inborn genetic diseases [RCV003284385]\|not provided [RCV001756350]	uncertain significance	6	117694139	117694139	Human	2	name
150540599	CV1296384	single nucleotide variant	NM_138459.5(NUS1):c.449A>G (p.Asp150Gly)	not provided [RCV001760451]	uncertain significance	6	117693075	117693075	Human		name
150528274	CV1301798	single nucleotide variant	NM_138459.5(NUS1):c.689T>C (p.Leu230Pro)	not provided [RCV001755170]	uncertain significance	6	117694178	117694178	Human		name
151353474	CV1326612	single nucleotide variant	NM_138459.5(NUS1):c.686T>G (p.Leu229Ter)	not provided [RCV001816440]	likely pathogenic	6	117694175	117694175	Human		name
151736042	CV1354798	single nucleotide variant	NM_138459.5(NUS1):c.353C>A (p.Ala118Glu)	Congenital disorder of glycosylation, type IAA [RCV001892767]	uncertain significance	6	117676023	117676023	Human	1	name
151768460	CV1367445	single nucleotide variant	NM_138459.5(NUS1):c.719T>G (p.Leu240Ter)	Congenital disorder of glycosylation, type IAA [RCV001863845]	pathogenic	6	117703632	117703632	Human	1	name
151869924	CV1375276	single nucleotide variant	NM_138459.5(NUS1):c.638A>G (p.Gln213Arg)	Congenital disorder of glycosylation, type IAA [RCV001960284]	uncertain significance	6	117694127	117694127	Human	1	name
151844243	CV1375945	single nucleotide variant	NM_138459.5(NUS1):c.787A>G (p.Ile263Val)	Congenital disorder of glycosylation, type IAA [RCV001995127]	uncertain significance	6	117703700	117703700	Human	1	name
151812869	CV1382504	single nucleotide variant	NM_138459.5(NUS1):c.613C>G (p.Gln205Glu)	Congenital disorder of glycosylation, type IAA [RCV002049025]	uncertain significance	6	117694102	117694102	Human	1	name
151733223	CV1386640	single nucleotide variant	NM_138459.5(NUS1):c.674C>T (p.Thr225Met)	Congenital disorder of glycosylation, type IAA [RCV001911094]	uncertain significance	6	117694163	117694163	Human	1	name
151730339	CV1396841	single nucleotide variant	NM_138459.5(NUS1):c.420T>G (p.Ile140Met)	Congenital disorder of glycosylation, type IAA [RCV001910801]	uncertain significance	6	117693046	117693046	Human	1	name
151765460	CV1403300	single nucleotide variant	NM_138459.5(NUS1):c.745A>G (p.Ser249Gly)	Congenital disorder of glycosylation, type IAA [RCV001914456]	uncertain significance	6	117703658	117703658	Human	1	name
151859558	CV1403760	single nucleotide variant	NM_138459.5(NUS1):c.538C>G (p.Gln180Glu)	Congenital disorder of glycosylation, type IAA [RCV001996959]\|Inborn genetic diseases [RCV004641836]	uncertain significance	6	117693164	117693164	Human	2	name
151744111	CV1404620	single nucleotide variant	NM_138459.5(NUS1):c.523A>G (p.Asn175Asp)	Congenital disorder of glycosylation, type IAA [RCV002022625]	uncertain significance	6	117693149	117693149	Human	1	name
151830354	CV1405408	single nucleotide variant	NM_138459.5(NUS1):c.445A>G (p.Met149Val)	Congenital disorder of glycosylation, type IAA [RCV001901749]\|not provided [RCV003130592]	uncertain significance	6	117693071	117693071	Human	1	name
151856845	CV1410349	single nucleotide variant	NM_138459.5(NUS1):c.335C>G (p.Pro112Arg)	Congenital disorder of glycosylation, type IAA [RCV001996641]\|Inborn genetic diseases [RCV004641835]\|not provided [RCV005057821]\|not specified [RCV002246612]	uncertain significance	6	117676005	117676005	Human	2	name
151880255	CV1411282	single nucleotide variant	NM_138459.5(NUS1):c.601G>A (p.Val201Ile)	Congenital disorder of glycosylation, type IAA [RCV002020048]	uncertain significance	6	117694090	117694090	Human	1	name
151818613	CV1420826	single nucleotide variant	NM_138459.5(NUS1):c.416G>A (p.Gly139Asp)	Congenital disorder of glycosylation, type IAA [RCV002049567]	uncertain significance	6	117693042	117693042	Human	1	name
151775646	CV1427464	single nucleotide variant	NM_138459.5(NUS1):c.596A>C (p.Asp199Ala)	Congenital disorder of glycosylation, type IAA [RCV001864488]	uncertain significance	6	117694085	117694085	Human	1	name
151794817	CV1434340	single nucleotide variant	NM_138459.5(NUS1):c.671A>G (p.Asp224Gly)	Congenital disorder of glycosylation, type IAA [RCV001866581]\|Intellectual disability, autosomal dominant 55, with seizures [RCV002290780]	uncertain significance	6	117694160	117694160	Human	2	name
151872068	CV1436809	single nucleotide variant	NM_138459.5(NUS1):c.351C>G (p.Ile117Met)	Congenital disorder of glycosylation, type IAA [RCV001998479]	uncertain significance	6	117676021	117676021	Human	1	name
151767956	CV1444446	single nucleotide variant	NM_138459.5(NUS1):c.629T>C (p.Leu210Ser)	Congenital disorder of glycosylation, type IAA [RCV001949877]\|not provided [RCV003134260]	uncertain significance	6	117694118	117694118	Human	1	name
151761366	CV1459667	single nucleotide variant	NM_138459.5(NUS1):c.881A>G (p.Ter294Trp)	Congenital disorder of glycosylation, type IAA [RCV002044317]	uncertain significance	6	117707014	117707014	Human	1	name
151796461	CV1471284	single nucleotide variant	NM_138459.5(NUS1):c.523A>T (p.Asn175Tyr)	Congenital disorder of glycosylation, type IAA [RCV001952524]	uncertain significance	6	117693149	117693149	Human	1	name
151783494	CV1474436	single nucleotide variant	NM_138459.5(NUS1):c.805C>T (p.His269Tyr)	Congenital disorder of glycosylation, type IAA [RCV001930658]	uncertain significance	6	117706938	117706938	Human	1	name
151815691	CV1485622	single nucleotide variant	NM_138459.5(NUS1):c.548A>G (p.Asn183Ser)	Congenital disorder of glycosylation, type IAA [RCV002029400]	uncertain significance	6	117694037	117694037	Human	1	name
151853179	CV1490328	single nucleotide variant	NM_138459.5(NUS1):c.524A>G (p.Asn175Ser)	Congenital disorder of glycosylation, type IAA [RCV001958264]	uncertain significance	6	117693150	117693150	Human	1	name
151878122	CV1493617	single nucleotide variant	NM_138459.5(NUS1):c.487G>C (p.Asp163His)	Congenital disorder of glycosylation, type IAA [RCV001982162]	uncertain significance	6	117693113	117693113	Human	1	name
151892660	CV1493844	single nucleotide variant	NM_138459.5(NUS1):c.413A>G (p.Gln138Arg)	Congenital disorder of glycosylation, type IAA [RCV001944348]	uncertain significance	6	117676083	117676083	Human	1	name
151891766	CV1502979	single nucleotide variant	NM_138459.5(NUS1):c.498A>T (p.Lys166Asn)	Congenital disorder of glycosylation, type IAA [RCV001943488]	uncertain significance	6	117693124	117693124	Human	1	name
151834601	CV1505123	single nucleotide variant	NM_138459.5(NUS1):c.844C>T (p.Arg282Cys)	Congenital disorder of glycosylation, type IAA [RCV001976999]\|Inborn genetic diseases [RCV002579689]\|not provided [RCV004694094]	likely pathogenic\|uncertain significance	6	117706977	117706977	Human	2	name
151826200	CV1507263	single nucleotide variant	NM_138459.5(NUS1):c.698A>G (p.Asn233Ser)	Congenital disorder of glycosylation, type IAA [RCV001955235]	uncertain significance	6	117703611	117703611	Human	1	name
151811674	CV1515666	single nucleotide variant	NM_138459.5(NUS1):c.868C>T (p.Arg290Cys)	Congenital disorder of glycosylation, type IAA [RCV002012498]\|NUS1-related epilepsy-myoclonus-ataxia syndrome [RCV004799678]	likely pathogenic\|uncertain significance	6	117707001	117707001	Human	1	name , trait
152158709	CV1564465	single nucleotide variant	NM_138459.5(NUS1):c.578C>T (p.Pro193Leu)	Congenital disorder of glycosylation, type IAA [RCV002140550]	likely benign	6	117694067	117694067	Human	1	name
155721468	CV1773487	single nucleotide variant	NM_138459.5(NUS1):c.758T>C (p.Phe253Ser)	Congenital disorder of glycosylation, type IAA [RCV002301312]	uncertain significance	6	117703671	117703671	Human	1	name
156365078	CV1895804	single nucleotide variant	NM_138459.5(NUS1):c.346G>C (p.Asp116His)	Congenital disorder of glycosylation, type IAA [RCV003091998]	uncertain significance	6	117676016	117676016	Human	1	name
156280005	CV1912122	single nucleotide variant	NM_138459.5(NUS1):c.422T>G (p.Phe141Cys)	Congenital disorder of glycosylation, type IAA [RCV002628396]	uncertain significance	6	117693048	117693048	Human	1	name
156409043	CV1922162	single nucleotide variant	NM_138459.5(NUS1):c.599T>C (p.Ile200Thr)	Congenital disorder of glycosylation, type IAA [RCV002607438]	uncertain significance	6	117694088	117694088	Human	1	name
155911982	CV1935281	single nucleotide variant	NM_138459.5(NUS1):c.405C>G (p.Tyr135Ter)	Intellectual disability, autosomal dominant 55, with seizures [RCV002510610]	pathogenic	6	117676075	117676075	Human	1	name
156437411	CV1947416	single nucleotide variant	NM_138459.5(NUS1):c.502T>C (p.Ser168Pro)	Congenital disorder of glycosylation, type IAA [RCV003106947]	uncertain significance	6	117693128	117693128	Human	1	name
156175833	CV2023007	single nucleotide variant	NM_138459.5(NUS1):c.446T>C (p.Met149Thr)	Congenital disorder of glycosylation, type IAA [RCV002765459]	uncertain significance	6	117693072	117693072	Human	1	name
155912598	CV2029577	single nucleotide variant	NM_138459.5(NUS1):c.580G>A (p.Glu194Lys)	Congenital disorder of glycosylation, type IAA [RCV002750249]	uncertain significance	6	117694069	117694069	Human	1	name
156124361	CV2052481	single nucleotide variant	NM_138459.5(NUS1):c.352G>T (p.Ala118Ser)	Congenital disorder of glycosylation, type IAA [RCV002825426]	uncertain significance	6	117676022	117676022	Human	1	name
156313990	CV2063621	single nucleotide variant	NM_138459.5(NUS1):c.502T>G (p.Ser168Ala)	Congenital disorder of glycosylation, type IAA [RCV002834287]	uncertain significance	6	117693128	117693128	Human	1	name
156314546	CV2107846	single nucleotide variant	NM_138459.5(NUS1):c.596A>G (p.Asp199Gly)	Congenital disorder of glycosylation, type IAA [RCV002937366]	uncertain significance	6	117694085	117694085	Human	1	name
156378797	CV2117791	single nucleotide variant	NM_138459.5(NUS1):c.370T>A (p.Cys124Ser)	Congenital disorder of glycosylation, type IAA [RCV002942976]	uncertain significance	6	117676040	117676040	Human	1	name
156225852	CV2144498	single nucleotide variant	NM_138459.5(NUS1):c.415G>A (p.Gly139Ser)	Congenital disorder of glycosylation, type IAA [RCV003007556]	uncertain significance	6	117676085	117676085	Human	1	name
155995108	CV2147903	single nucleotide variant	NM_138459.5(NUS1):c.695C>G (p.Ser232Ter)	Congenital disorder of glycosylation, type IAA [RCV003017014]	pathogenic	6	117703608	117703608	Human	1	name
156089984	CV2155588	single nucleotide variant	NM_138459.5(NUS1):c.634G>T (p.Ala212Ser)	Congenital disorder of glycosylation, type IAA [RCV003020647]	uncertain significance	6	117694123	117694123	Human	1	name
156321882	CV2166626	single nucleotide variant	NM_138459.5(NUS1):c.508G>A (p.Glu170Lys)	Congenital disorder of glycosylation, type IAA [RCV003029223]	uncertain significance	6	117693134	117693134	Human	1	name
156181689	CV2167589	single nucleotide variant	NM_138459.5(NUS1):c.842T>C (p.Leu281Pro)	Congenital disorder of glycosylation, type IAA [RCV003023846]	uncertain significance	6	117706975	117706975	Human	1	name
156049840	CV2169055	single nucleotide variant	NM_138459.5(NUS1):c.437C>A (p.Ser146Tyr)	Congenital disorder of glycosylation, type IAA [RCV003019358]\|Inborn genetic diseases [RCV005382526]	uncertain significance	6	117693063	117693063	Human	2	name
156205200	CV2179258	single nucleotide variant	NM_138459.5(NUS1):c.627G>T (p.Gln209His)	Congenital disorder of glycosylation, type IAA [RCV003024594]	uncertain significance	6	117694116	117694116	Human	1	name
156324987	CV2184208	single nucleotide variant	NM_138459.5(NUS1):c.301A>G (p.Met101Val)	Congenital disorder of glycosylation, type IAA [RCV003046876]	uncertain significance	6	117675971	117675971	Human	1	name
156299165	CV2191279	single nucleotide variant	NM_138459.5(NUS1):c.299A>C (p.His100Pro)	Congenital disorder of glycosylation, type IAA [RCV003061877]	uncertain significance	6	117675969	117675969	Human	1	name
156435398	CV2403539	single nucleotide variant	NM_138459.5(NUS1):c.328C>T (p.Gln110Ter)	Intellectual disability, autosomal dominant 55, with seizures [RCV003128001]	pathogenic	6	117675998	117675998	Human	1	name
243055407	CV2408412	single nucleotide variant	NM_138459.5(NUS1):c.470A>T (p.Gln157Leu)	not provided [RCV003131845]	uncertain significance	6	117693096	117693096	Human		name
243057556	CV2408416	single nucleotide variant	NM_138459.5(NUS1):c.338G>A (p.Ser113Asn)	not provided [RCV003133097]	uncertain significance	6	117676008	117676008	Human		name
243057461	CV2408417	single nucleotide variant	NM_138459.5(NUS1):c.666T>G (p.Asp222Glu)	not provided [RCV003133098]	uncertain significance	6	117694155	117694155	Human		name
11531291	CV247614	single nucleotide variant	NM_138459.5(NUS1):c.869G>A (p.Arg290His)	Congenital disorder of glycosylation [RCV001262137]\|Congenital disorder of glycosylation, type IAA [RCV000239673]\|Intellectual disability, autosomal dominant 55, with seizures [RCV001253663]\|NUS1-related disorder [RCV004701345]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	117707002	117707002	Human	3	name , trait , alternate_id
329954890	CV2670822	single nucleotide variant	NM_138459.5(NUS1):c.560C>T (p.Ala187Val)	Inborn genetic diseases [RCV004636720]\|not provided [RCV003236090]	uncertain significance	6	117694049	117694049	Human	1	name
329951874	CV2671477	microsatellite	NM_138459.5(NUS1):c.48_49del (p.Cys17fs)	Intellectual disability, autosomal dominant 55, with seizures [RCV003236701]	pathogenic	6	117675716	117675717	Human		name
401726964	CV2736213	single nucleotide variant	NM_138459.5(NUS1):c.768G>A (p.Trp256Ter)	not provided [RCV003312661]	likely pathogenic	6	117703681	117703681	Human		name
401869380	CV2750732	single nucleotide variant	NM_138459.5(NUS1):c.472G>T (p.Glu158Ter)	Intellectual disability, autosomal dominant 55, with seizures [RCV003334448]	pathogenic	6	117693098	117693098	Human	1	name
401920893	CV2820668	single nucleotide variant	NM_138459.5(NUS1):c.338G>T (p.Ser113Ile)	not provided [RCV003432025]	uncertain significance	6	117676008	117676008	Human		name
401944361	CV2831621	single nucleotide variant	NM_138459.5(NUS1):c.616G>T (p.Asp206Tyr)	Congenital bilateral perisylvian syndrome [RCV003445286]	likely pathogenic	6	117694105	117694105	Human	2	name
401944776	CV2840597	single nucleotide variant	NM_138459.5(NUS1):c.307C>G (p.Leu103Val)	Congenital disorder of glycosylation, type IAA [RCV003755041]\|not provided [RCV003457483]	uncertain significance	6	117675977	117675977	Human	1	name
405051005	CV2873587	single nucleotide variant	NM_138459.5(NUS1):c.418A>G (p.Ile140Val)	Congenital disorder of glycosylation, type IAA [RCV003592850]	uncertain significance	6	117693044	117693044	Human	1	name
405043633	CV2927074	single nucleotide variant	NM_138459.5(NUS1):c.577C>G (p.Pro193Ala)	Congenital disorder of glycosylation, type IAA [RCV003592164]	uncertain significance	6	117694066	117694066	Human	1	name
405140157	CV2956898	single nucleotide variant	NM_138459.5(NUS1):c.554A>T (p.His185Leu)	Congenital disorder of glycosylation, type IAA [RCV003755202]	uncertain significance	6	117694043	117694043	Human	1	name
405141113	CV2962756	single nucleotide variant	NM_138459.5(NUS1):c.383G>A (p.Gly128Asp)	Congenital disorder of glycosylation, type IAA [RCV003755305]	uncertain significance	6	117676053	117676053	Human	1	name
405142244	CV2965794	single nucleotide variant	NM_138459.5(NUS1):c.329A>G (p.Gln110Arg)	Congenital disorder of glycosylation, type IAA [RCV003755437]	uncertain significance	6	117675999	117675999	Human	1	name
405141408	CV2970867	single nucleotide variant	NM_138459.5(NUS1):c.601G>T (p.Val201Leu)	Congenital disorder of glycosylation, type IAA [RCV003755339]	uncertain significance	6	117694090	117694090	Human	1	name
405142086	CV2972409	single nucleotide variant	NM_138459.5(NUS1):c.875G>A (p.Gly292Glu)	Congenital disorder of glycosylation, type IAA [RCV003755419]	uncertain significance	6	117707008	117707008	Human	1	name
405142524	CV2976641	single nucleotide variant	NM_138459.5(NUS1):c.308T>G (p.Leu103Arg)	Congenital disorder of glycosylation, type IAA [RCV003755469]	likely pathogenic	6	117675978	117675978	Human	1	name
405144511	CV2981891	single nucleotide variant	NM_138459.5(NUS1):c.565A>T (p.Lys189Ter)	Congenital disorder of glycosylation, type IAA [RCV003755525]	pathogenic	6	117694054	117694054	Human	1	name
405143978	CV2991462	single nucleotide variant	NM_138459.5(NUS1):c.521G>A (p.Ser174Asn)	Congenital disorder of glycosylation, type IAA [RCV003755619]	uncertain significance	6	117693147	117693147	Human	1	name
405144344	CV3002515	single nucleotide variant	NM_138459.5(NUS1):c.500A>G (p.Tyr167Cys)	Congenital disorder of glycosylation, type IAA [RCV003755658]	uncertain significance	6	117693126	117693126	Human	1	name
405145369	CV3005515	single nucleotide variant	NM_138459.5(NUS1):c.684T>A (p.Ser228Arg)	Congenital disorder of glycosylation, type IAA [RCV003755777]	uncertain significance	6	117694173	117694173	Human	1	name
405150190	CV3048633	single nucleotide variant	NM_138459.5(NUS1):c.304G>A (p.Gly102Ser)	Congenital disorder of glycosylation, type IAA [RCV003756257]	uncertain significance	6	117675974	117675974	Human	1	name
405152562	CV3066554	single nucleotide variant	NM_138459.5(NUS1):c.844C>G (p.Arg282Gly)	Congenital disorder of glycosylation, type IAA [RCV003756466]	uncertain significance	6	117706977	117706977	Human	1	name
405152895	CV3069507	single nucleotide variant	NM_138459.5(NUS1):c.679G>C (p.Ala227Pro)	Congenital disorder of glycosylation, type IAA [RCV003756431]	uncertain significance	6	117694168	117694168	Human	1	name
405091134	CV3118437	single nucleotide variant	NM_138459.5(NUS1):c.646A>G (p.Lys216Glu)	Congenital disorder of glycosylation, type IAA [RCV003811079]	uncertain significance	6	117694135	117694135	Human	1	name
405124305	CV3131778	single nucleotide variant	NM_138459.5(NUS1):c.302T>C (p.Met101Thr)	Congenital disorder of glycosylation, type IAA [RCV003837642]	uncertain significance	6	117675972	117675972	Human	1	name
405129416	CV3133200	single nucleotide variant	NM_138459.5(NUS1):c.313A>G (p.Ile105Val)	Congenital disorder of glycosylation, type IAA [RCV003838170]	uncertain significance	6	117675983	117675983	Human	1	name
405169420	CV3156914	single nucleotide variant	NM_138459.5(NUS1):c.475C>T (p.Leu159Phe)	Congenital disorder of glycosylation, type IAA [RCV003857618]	uncertain significance	6	117693101	117693101	Human	1	name
405244157	CV3161207	single nucleotide variant	NM_138459.5(NUS1):c.788T>C (p.Ile263Thr)	Congenital disorder of glycosylation, type IAA [RCV003868116]	uncertain significance	6	117703701	117703701	Human	1	name
405239211	CV3165861	single nucleotide variant	NM_138459.5(NUS1):c.598A>G (p.Ile200Val)	Congenital disorder of glycosylation, type IAA [RCV003866873]	uncertain significance	6	117694087	117694087	Human	1	name
402495893	CV3179180	single nucleotide variant	NM_138459.5(NUS1):c.385A>G (p.Ile129Val)	Congenital disorder of glycosylation, type IAA [RCV003877447]	uncertain significance	6	117676055	117676055	Human	1	name
405261941	CV3184848	single nucleotide variant	NM_138459.5(NUS1):c.439A>T (p.Arg147Ter)	Intellectual disability, autosomal dominant 55, with seizures [RCV003885421]	likely pathogenic	6	117693065	117693065	Human	1	name
405681072	CV3352565	single nucleotide variant	NM_138459.5(NUS1):c.490T>A (p.Cys164Ser)	Inborn genetic diseases [RCV004488698]	uncertain significance	6	117693116	117693116	Human	1	name
407429389	CV3413800	single nucleotide variant	NM_138459.5(NUS1):c.478C>G (p.Leu160Val)	Intellectual disability, autosomal dominant 55, with seizures [RCV004595209]	uncertain significance	6	117693104	117693104	Human	1	name
408380776	CV3501267	single nucleotide variant	NM_138459.5(NUS1):c.872T>C (p.Leu291Pro)	not provided [RCV004727356]	uncertain significance	6	117707005	117707005	Human		name
408380879	CV3501325	single nucleotide variant	NM_138459.5(NUS1):c.370T>C (p.Cys124Arg)	not provided [RCV004727414]	uncertain significance	6	117676040	117676040	Human		name
408383614	CV3506947	single nucleotide variant	NM_138459.5(NUS1):c.551G>C (p.Cys184Ser)	NUS1-related disorder [RCV004730756]	uncertain significance	6	117694040	117694040	Human		name , trait , alternate_id
408385594	CV3520253	single nucleotide variant	NM_138459.5(NUS1):c.645A>C (p.Gln215His)	not provided [RCV004760074]	uncertain significance	6	117694134	117694134	Human		name
408385970	CV3520447	single nucleotide variant	NM_138459.5(NUS1):c.616G>A (p.Asp206Asn)	not provided [RCV004760268]	uncertain significance	6	117694105	117694105	Human		name
596921644	CV3535266	single nucleotide variant	NM_138459.5(NUS1):c.626A>T (p.Gln209Leu)	not provided [RCV004784825]	uncertain significance	6	117694115	117694115	Human		name
596928860	CV3541706	single nucleotide variant	NM_138459.5(NUS1):c.861T>A (p.Cys287Ter)	Intellectual disability, autosomal dominant 55, with seizures [RCV004797580]	likely pathogenic	6	117706994	117706994	Human	1	name
596941826	CV3543877	single nucleotide variant	NM_138459.5(NUS1):c.368G>A (p.Trp123Ter)	NUS1-related disorder [RCV004799867]	pathogenic	6	117676038	117676038	Human		name , trait , alternate_id
597632064	CV3552772	single nucleotide variant	NM_138459.5(NUS1):c.814A>T (p.Ile272Phe)	not provided [RCV004823600]	uncertain significance	6	117706947	117706947	Human		name
597691096	CV3570145	single nucleotide variant	NM_138459.5(NUS1):c.470A>G (p.Gln157Arg)	Congenital disorder of glycosylation, type IAA [RCV005107650]\|Inborn genetic diseases [RCV004954163]	uncertain significance	6	117693096	117693096	Human	2	name
597830684	CV3743222	single nucleotide variant	NM_138459.5(NUS1):c.643C>A (p.Gln215Lys)	Congenital disorder of glycosylation, type IAA [RCV005062230]	uncertain significance	6	117694132	117694132	Human	1	name
597967231	CV3751784	single nucleotide variant	NM_138459.5(NUS1):c.469C>G (p.Gln157Glu)	Congenital disorder of glycosylation, type IAA [RCV005083154]	uncertain significance	6	117693095	117693095	Human	1	name
597929004	CV3783888	single nucleotide variant	NM_138459.5(NUS1):c.794C>G (p.Ser265Cys)	Congenital disorder of glycosylation, type IAA [RCV005116368]	uncertain significance	6	117706927	117706927	Human	1	name
597975927	CV3796015	single nucleotide variant	NM_138459.5(NUS1):c.482G>A (p.Gly161Asp)	Congenital disorder of glycosylation, type IAA [RCV005144846]	uncertain significance	6	117693108	117693108	Human	1	name
597900130	CV3796519	single nucleotide variant	NM_138459.5(NUS1):c.358C>G (p.Leu120Val)	Congenital disorder of glycosylation, type IAA [RCV005152602]	uncertain significance	6	117676028	117676028	Human	1	name
597910871	CV3850435	single nucleotide variant	NM_138459.5(NUS1):c.550T>G (p.Cys184Gly)	Congenital disorder of glycosylation, type IAA [RCV005203583]	uncertain significance	6	117694039	117694039	Human	1	name
597932831	CV3862120	single nucleotide variant	NM_138459.5(NUS1):c.362T>C (p.Val121Ala)	Congenital disorder of glycosylation, type IAA [RCV005206984]	uncertain significance	6	117676032	117676032	Human	1	name
597845033	CV3880297	single nucleotide variant	NM_138459.5(NUS1):c.614A>C (p.Gln205Pro)	not provided [RCV005227185]	uncertain significance	6	117694103	117694103	Human		name
598130024	CV3886359	single nucleotide variant	NM_138459.5(NUS1):c.640A>T (p.Lys214Ter)	Intellectual disability, autosomal dominant 55, with seizures [RCV005244156]	likely pathogenic	6	117694129	117694129	Human	1	name
598159620	CV3897125	single nucleotide variant	NM_138459.5(NUS1):c.398G>T (p.Ser133Ile)	not provided [RCV005368099]	uncertain significance	6	117676068	117676068	Human		name
13625386	CV521968	single nucleotide variant	NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr)	Congenital disorder of glycosylation, type IAA [RCV000653379]	uncertain significance	6	117706936	117706936	Human	1	name
13813152	CV565353	single nucleotide variant	NM_138459.5(NUS1):c.506C>G (p.Pro169Arg)	Congenital disorder of glycosylation, type IAA [RCV000689957]\|Intellectual disability, autosomal dominant 55, with seizures [RCV001335392]\|NUS1-related disorder [RCV003938040]\|not provided [RCV003334020]	likely benign\|uncertain significance	6	117693132	117693132	Human	2	name , trait , alternate_id
13811361	CV565356	single nucleotide variant	NM_138459.5(NUS1):c.790G>A (p.Val264Ile)	Congenital disorder of glycosylation, type IAA [RCV000688711]	uncertain significance	6	117703703	117703703	Human	1	name
14707456	CV634521	single nucleotide variant	NM_138459.5(NUS1):c.640A>G (p.Lys214Glu)	Congenital disorder of glycosylation, type IAA [RCV000792334]\|not provided [RCV003311889]\|not specified [RCV004768652]	likely benign\|uncertain significance	6	117694129	117694129	Human	1	name
15129606	CV710143	single nucleotide variant	NM_138459.5(NUS1):c.537T>A (p.Asp179Glu)	Congenital disorder of glycosylation, type IAA [RCV000964286]	benign	6	117693163	117693163	Human	1	name
26910074	CV831470	single nucleotide variant	NM_138459.5(NUS1):c.845G>A (p.Arg282His)	Congenital disorder of glycosylation, type IAA [RCV001038601]\|not provided [RCV003883535]	uncertain significance	6	117706978	117706978	Human	1	name
39456971	CV966254	single nucleotide variant	NM_138459.5(NUS1):c.697A>G (p.Asn233Asp)	Congenital disorder of glycosylation, type IAA [RCV003754905]\|Intellectual disability, autosomal dominant 55, with seizures [RCV004799423]\|not provided [RCV004809548]	uncertain significance	6	117703610	117703610	Human	2	name
40814535	CV969113	single nucleotide variant	NM_138459.5(NUS1):c.734G>T (p.Gly245Val)	Intellectual disability, autosomal dominant 55, with seizures [RCV001580577]\|not provided [RCV001260226]	pathogenic	6	117703647	117703647	Human	1	name
40814537	CV969114	single nucleotide variant	NM_138459.5(NUS1):c.752T>G (p.Leu251Ter)	Intellectual disability, autosomal dominant 55, with seizures [RCV001580578]\|not provided [RCV001260227]	pathogenic	6	117703665	117703665	Human	1	name
40887338	CV973497	single nucleotide variant	NM_138459.5(NUS1):c.443T>A (p.Leu148Ter)	Inborn genetic diseases [RCV001266872]	pathogenic	6	117693069	117693069	Human	1	name
40890128	CV975172	duplication	NM_138459.5(NUS1):c.28_29dup (p.Val11fs)	not provided [RCV001268726]	likely pathogenic	6	117675696	117675697	Human		name
156417525	CV1909794	microsatellite	NM_138459.5(NUS1):c.68CCT[1] (p.Ser24del)	Congenital disorder of glycosylation, type IAA [RCV002610762]\|NUS1-related disorder [RCV003410106]	uncertain significance	6	117675738	117675740	Human		name , trait , alternate_id
405146573	CV3025454	deletion	NM_138459.5(NUS1):c.94_101del (p.Thr32fs)	Congenital disorder of glycosylation, type IAA [RCV003755901]	pathogenic	6	117675764	117675771	Human	1	name
405853782	CV3395205	insertion	NM_138459.5(NUS1):c.415+2_415+3insCGTAGGT	Intellectual disability, autosomal dominant 55, with seizures [RCV004555347]	likely pathogenic	6	117676083	117676084	Human	1	name
155643667	CV1708022	deletion	NM_138459.5(NUS1):c.220_244del (p.Gly74fs)	Intellectual disability, autosomal dominant 55, with seizures [RCV002289483]	likely pathogenic	6	117675889	117675913	Human	1	name
401797563	CV2741918	deletion	NM_138459.5(NUS1):c.128_141del (p.Ala43fs)	Intellectual disability, autosomal dominant 55, with seizures [RCV003324097]	pathogenic	6	117675790	117675803	Human	1	name
405037801	CV2908109	duplication	NM_138459.5(NUS1):c.234_280dup (p.Leu94fs)	Congenital disorder of glycosylation, type IAA [RCV003591350]	pathogenic	6	117675900	117675901	Human	1	name
405145110	CV3007922	deletion	NM_138459.5(NUS1):c.-118_159del (p.Met1fs)	Congenital disorder of glycosylation, type IAA [RCV003755743]	likely pathogenic	6	117675553	117675829	Human	1	name
405147395	CV3023589	duplication	NM_138459.5(NUS1):c.119_132dup (p.Ser45fs)	Congenital disorder of glycosylation, type IAA [RCV003755955]	pathogenic	6	117675788	117675789	Human	1	name
13506447	CV480769	duplication	NM_138459.5(NUS1):c.128_141dup (p.Val48fs)	Intellectual disability, autosomal dominant 55, with seizures [RCV000577867]\|not provided [RCV001090683]	pathogenic	6	117675789	117675790	Human	1	name
21075009	CV798567	deletion	NM_138459.5(NUS1):c.238_263del (p.Ala80fs)	Intellectual disability, autosomal dominant 55, with seizures [RCV000995824]	pathogenic	6	117675908	117675933	Human	1	name
25320626	CV805463	deletion	NM_138459.5(NUS1):c.218_242del (p.Arg73fs)	not provided [RCV001009239]	pathogenic	6	117675884	117675908	Human		name
126730383	CV985965	insertion	NM_138459.5(NUS1):c.92_93insAG (p.Thr32fs)	Intellectual disability, autosomal dominant 55, with seizures [RCV001294141]	pathogenic	6	117675761	117675762	Human		name
151768291	CV1486169	duplication	NM_138459.5(NUS1):c.765_769dup (p.His257fs)	Congenital disorder of glycosylation, type IAA [RCV002044991]	pathogenic\|uncertain significance	6	117703676	117703677	Human	1	name
155642897	CV1707542	microsatellite	NM_138459.5(NUS1):c.366GTG[1] (p.Trp123del)	Intellectual disability, autosomal dominant 55, with seizures [RCV002289003]	uncertain significance	6	117676036	117676038	Human		name
401937718	CV2796869	deletion	NM_138459.5(NUS1):c.621_622del (p.Phe207fs)	NUS1-related disorder [RCV003416811]	likely pathogenic	6	117694108	117694109	Human		name , trait , alternate_id
405043698	CV2923310	microsatellite	NM_138459.5(NUS1):c.836_837dup (p.Ala280fs)	Congenital disorder of glycosylation, type IAA [RCV003592169]	pathogenic	6	117706965	117706966	Human		name
405145638	CV3002828	microsatellite	NM_138459.5(NUS1):c.368_372del (p.Trp123fs)	Congenital disorder of glycosylation, type IAA [RCV003755678]	pathogenic	6	117676031	117676035	Human		name
407425464	CV3411265	deletion	NM_138459.5(NUS1):c.861_873del (p.Cys287fs)	not provided [RCV004588956]	uncertain significance	6	117706991	117707003	Human		name
40889863	CV975173	deletion	NM_138459.5(NUS1):c.672_673del (p.Thr225fs)	not provided [RCV001268357]	likely pathogenic	6	117694160	117694161	Human		name
42722935	CV985228	insertion	NM_138459.5(NUS1):c.93_94insCAGG (p.Thr32fs)	Intellectual disability, autosomal dominant 55, with seizures [RCV001292934]	pathogenic	6	117675763	117675764	Human		name
150546400	CV1296212	deletion	NM_138459.5(NUS1):c.22_45del (p.Val8_Leu15del)	not provided [RCV001763502]	uncertain significance	6	117675688	117675711	Human		name
151886375	CV1451190	indel	NM_138459.5(NUS1):c.74_75delinsAA (p.Trp25Ter)	Congenital disorder of glycosylation, type IAA [RCV002037957]	pathogenic	6	117675744	117675745	Human		name
156152499	CV2023112	deletion	NM_138459.5(NUS1):c.17_40del (p.Glu6_His13del)	Congenital disorder of glycosylation, type IAA [RCV002741268]	uncertain significance	6	117675684	117675707	Human	1	name
597922438	CV3781792	indel	NM_138459.5(NUS1):c.196_197delinsGA (p.Arg66Asp)	Congenital disorder of glycosylation, type IAA [RCV005130464]	uncertain significance	6	117675866	117675867	Human		name
13807487	CV563348	indel	NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys)	Congenital disorder of glycosylation, type IAA [RCV000686783]	uncertain significance	6	117675868	117675869	Human		name
151726804	CV1387234	insertion	NM_138459.5(NUS1):c.791+16_791+17insTTTGTTTAGATTCA	Congenital disorder of glycosylation, type IAA [RCV001910445]	likely benign	6	117703720	117703721	Human	1	name
408388315	CV3522622	duplication	NM_138459.5(NUS1):c.38_46dup (p.Leu15_Leu16insHisAlaLeu)	not provided [RCV004769003]	uncertain significance	6	117675702	117675703	Human		name
597665616	CV3732635	indel	NM_138459.5(NUS1):c.299_303delinsTT (p.His100_Met101delinsLeu)	not provided [RCV005004106]	uncertain significance	6	117675969	117675973	Human		name
405052147	CV2888067	duplication	NM_138459.5(NUS1):c.29_52dup (p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys)	Congenital disorder of glycosylation, type IAA [RCV003592956]	uncertain significance	6	117675697	117675698	Human	1	name
598160447	CV3897273	duplication	NM_138459.5(NUS1):c.139_162dup (p.Phe54_Thr55insAlaValLeuAlaProLeuGlyPhe)	not provided [RCV005368247]	uncertain significance	6	117675807	117675808	Human		name
156357815	CV1891253	indel	NM_138459.5(NUS1):c.93_101delinsAGCCAGGAACTGGAT (p.Thr32_Asn34delinsAlaArgAsnTrpIle)	Congenital disorder of glycosylation, type IAA [RCV003091481]	uncertain significance	6	117675763	117675771	Human		name

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