4337[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 144731	GRCh38/hg38 6p21.2(chr6:39127448-40287232)x3	DAAM2, DAAM2-AS1 +23 more	Copy number gain	See cases	GLikely benign
Select item 907105	NM_001201427.2(DAAM2):c.*2246T>C	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 907106	NM_001201427.2(DAAM2):c.*2366C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356587	NM_001201427.2(DAAM2):c.*2378G>A	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356588	NM_001201427.2(DAAM2):c.*2392G>C	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 903739	NM_001201427.2(DAAM2):c.*2409G>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 356589	NM_001201427.2(DAAM2):c.*2411T>C	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 356590	NM_001201427.2(DAAM2):c.*2427C>G	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 903740	NM_001201427.2(DAAM2):c.*2436C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356591	NM_001201427.2(DAAM2):c.*2442C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356592	NM_001201427.2(DAAM2):c.2451_2455dup	DAAM2, MOCS1	Duplication (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GUncertain significance
Select item 356593	NM_001201427.2(DAAM2):c.*2463C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 903741	NM_001201427.2(DAAM2):c.*2485A>C	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 903742	NM_001201427.2(DAAM2):c.*2488C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 905656	NM_001201427.2(DAAM2):c.*2512C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356594	NM_001201427.2(DAAM2):c.2545_2548dup	DAAM2, MOCS1	Duplication (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GBenign
Select item 905657	NM_001201427.2(DAAM2):c.*2568G>C	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356595	NM_001201427.2(DAAM2):c.*2609C>T	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GUncertain significance
Select item 356596	NM_001201427.2(DAAM2):c.*2655ATCT[3]	DAAM2, MOCS1	Microsatellite (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GUncertain significance
Select item 356597	NM_001201427.2(DAAM2):c.*2655ATCT[1]	DAAM2, MOCS1	Microsatellite (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GLikely benign
Select item 905658	NM_001201427.2(DAAM2):c.*2691C>T	MOCS1, DAAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 356598	NM_001201427.2(DAAM2):c.*2691C>A	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 356599	NM_001201427.2(DAAM2):c.*2692G>A	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 905659	NM_001201427.2(DAAM2):c.*2818T>C	DAAM2, MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356600	NM_001358530.2(MOCS1):c.*1445C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356601	NM_001358530.2(MOCS1):c.*1436C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356602	NM_001358530.2(MOCS1):c.*1433T>A	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GUncertain significance
Select item 356603	NM_001358530.2(MOCS1):c.*1424C>G	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 356604	NM_001358530.2(MOCS1):c.*1405G>C	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 356605	NM_001358530.2(MOCS1):c.*1389dup	MOCS1	Duplication (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GLikely benign
Select item 356606	NM_001358530.2(MOCS1):c.1348_1351dup	MOCS1	Duplication (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GLikely benign
Select item 906168	NM_001358530.2(MOCS1):c.*1341T>A	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356607	NM_001358530.2(MOCS1):c.*1334A>C	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 906169	NM_001358530.2(MOCS1):c.*1307A>G	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356608	NM_001358530.2(MOCS1):c.*1305C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356609	NM_001358530.2(MOCS1):c.*1136A>C	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 356610	NM_001358530.2(MOCS1):c.*1117A>C	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356611	NM_001358530.2(MOCS1):c.*1113T>G	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 356612	NM_001358530.2(MOCS1):c.*1067A>C	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356613	NM_001358530.2(MOCS1):c.1062_1063dup	MOCS1	Duplication (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GUncertain significance
Select item 356614	NM_001358530.2(MOCS1):c.*1063T>A	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 907167	NM_001358530.2(MOCS1):c.*1046A>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356615	NM_001358530.2(MOCS1):c.*1003G>A	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356616	NM_001358530.2(MOCS1):c.*1002C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 356617	NM_001358530.2(MOCS1):c.*990T>C	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 356618	NM_001358530.2(MOCS1):c.*987C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 356619	NM_001358530.2(MOCS1):c.*908AATC[5]	MOCS1	Microsatellite (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GUncertain significance
Select item 356620	NM_001358530.2(MOCS1):c.*908AATC[3]	MOCS1	Microsatellite (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GLikely benign
Select item 903819	NM_001358530.2(MOCS1):c.*888C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 903820	NM_001358530.2(MOCS1):c.*826A>C	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 356621	NM_001358530.2(MOCS1):c.*824C>G	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 903821	NM_001358530.2(MOCS1):c.*803C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356622	NM_001358530.2(MOCS1):c.771_772dup	MOCS1	Duplication (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GUncertain significance
Select item 356624	NM_001358530.2(MOCS1):c.*762G>A	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356623	NM_001358530.2(MOCS1):c.759_761dup	MOCS1	Duplication (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GUncertain significance
Select item 903822	NM_001358530.2(MOCS1):c.*756A>C	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356625	NM_001358530.2(MOCS1):c.*739C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356626	NM_001358530.2(MOCS1):c.*734C>G	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 356627	NM_001358530.2(MOCS1):c.*664T>C	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 905720	NM_001358530.2(MOCS1):c.*659A>G	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356628	NM_001358530.2(MOCS1):c.*638C>G	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 905721	NM_001358530.2(MOCS1):c.*633C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356629	NM_001358530.2(MOCS1):c.*578C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 356630	NM_001358530.2(MOCS1):c.*523TCCTG[4]	MOCS1	Microsatellite (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GLikely benign
Select item 905722	NM_001358530.2(MOCS1):c.*523T>C	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356631	NM_001358530.2(MOCS1):c.*477C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356632	NM_001358530.2(MOCS1):c.*451C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 356633	NM_001358530.2(MOCS1):c.*423C>A	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GUncertain significance
Select item 356634	NM_001358530.2(MOCS1):c.*400C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356635	NM_001358530.2(MOCS1):c.*378G>A	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GBenign
Select item 356636	NM_001358530.2(MOCS1):c.*327G>A	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 906232	NM_001358530.2(MOCS1):c.*326C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 906233	NM_001358530.2(MOCS1):c.*282T>C	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 906234	NM_001358530.2(MOCS1):c.*142C>G	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356637	NM_001358530.2(MOCS1):c.*135T>G	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 906235	NM_001358530.2(MOCS1):c.*120C>T	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 356638	NM_001358530.2(MOCS1):c.*84A>G	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 907234	NM_001358530.2(MOCS1):c.*76T>C	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 356639	NM_001358530.2(MOCS1):c.*2A>G	MOCS1	Single nucleotide variant (3 prime UTR variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 2086968	NM_001358530.2(MOCS1):c.1907C>T (p.Ala636Val)	MOCS1 (A620V +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 1976090	NM_001358530.2(MOCS1):c.1904G>A (p.Arg635Gln)	MOCS1 (R548Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 1386585	NM_001358530.2(MOCS1):c.1894dup (p.Asp632fs)	MOCS1 (D632fs +2 more)	Duplication (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 2097926	NM_001358530.2(MOCS1):c.1894G>A (p.Asp632Asn)	MOCS1 (D616N +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 2047512	NM_001358530.2(MOCS1):c.1891G>A (p.Gly631Arg)	MOCS1 (G615R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 1975427	NM_001358530.2(MOCS1):c.1889G>A (p.Arg630Gln)	MOCS1 (R614Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 1711627	NM_001358530.2(MOCS1):c.1889G>C (p.Arg630Pro)	MOCS1 (R543P +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1973962	NM_001358530.2(MOCS1):c.1888C>T (p.Arg630Trp)	MOCS1 (R543W +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 2099262	NM_001358530.2(MOCS1):c.1879GGT[3] (p.Gly628_Gln629insGly)	MOCS1	Microsatellite (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 2698381	NM_001358530.2(MOCS1):c.1881T>G (p.Gly627=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 2093199	NM_001358530.2(MOCS1):c.1868T>C (p.Ile623Thr)	MOCS1 (I536T +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 2682608	NM_001358530.2(MOCS1):c.1858_1859dup (p.Lys621fs)	MOCS1 (K534fs +2 more)	Duplication (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1606459	NM_001358530.2(MOCS1):c.1860C>A (p.Ile620=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 1972482	NM_001358530.2(MOCS1):c.1852GAG[1] (p.Glu619del)	MOCS1 (E532del +2 more)	Microsatellite (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 2875780	NM_001358530.2(MOCS1):c.1854G>A (p.Glu618=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 1972918	NM_001358530.2(MOCS1):c.1853A>G (p.Glu618Gly)	MOCS1 (E602G +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance
Select item 2697271	NM_001358530.2(MOCS1):c.1848G>T (p.Val616=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 1972331	NM_001358530.2(MOCS1):c.1848G>A (p.Val616=)	MOCS1	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GLikely benign
Select item 1975040	NM_001358530.2(MOCS1):c.1823G>A (p.Cys608Tyr)	MOCS1 (C592Y +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	GUncertain significance

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