ClinVar for MedGen (Select 75652) - ClinVar

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Items: 46

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 3566441.	NM_001358530.2(MOCS1):c.1687C>G (p.Gln563Glu) GRCh37: Chr6:39874357 GRCh38: Chr6:39906581	MOCS1	Q476E, Q547E, Q563E	Combined molybdoflavoprotein enzyme deficiency, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3566332.	NM_001358530.2(MOCS1):c.*423C>A GRCh37: Chr6:39873710 GRCh38: Chr6:39905934	MOCS1		Combined molybdoflavoprotein enzyme deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3566303.	NM_001358530.2(MOCS1):c.*523TCCTG[4] GRCh37: Chr6:39873595-39873596 GRCh38: Chr6:39905819-39905820	MOCS1		Combined molybdoflavoprotein enzyme deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3566234.	NM_001358530.2(MOCS1):c.759_761dup GRCh37: Chr6:39873371-39873372 GRCh38: Chr6:39905595-39905596	MOCS1		Combined molybdoflavoprotein enzyme deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3566225.	NM_001358530.2(MOCS1):c.771_772dup GRCh37: Chr6:39873360-39873361 GRCh38: Chr6:39905584-39905585	MOCS1		Combined molybdoflavoprotein enzyme deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3566206.	NM_001358530.2(MOCS1):c.*908AATC[3] GRCh37: Chr6:39873210-39873213 GRCh38: Chr6:39905434-39905437	MOCS1		Combined molybdoflavoprotein enzyme deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3566197.	NM_001358530.2(MOCS1):c.*908AATC[5] GRCh37: Chr6:39873209-39873210 GRCh38: Chr6:39905433-39905434	MOCS1		Combined molybdoflavoprotein enzyme deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3566138.	NM_001358530.2(MOCS1):c.1062_1063dup GRCh37: Chr6:39873069-39873070 GRCh38: Chr6:39905293-39905294	MOCS1		Combined molybdoflavoprotein enzyme deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3566069.	NM_001358530.2(MOCS1):c.1348_1351dup GRCh37: Chr6:39872781-39872782 GRCh38: Chr6:39905005-39905006	MOCS1		Combined molybdoflavoprotein enzyme deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35660510.	NM_001358530.2(MOCS1):c.*1389dup GRCh37: Chr6:39872743-39872744 GRCh38: Chr6:39904967-39904968	MOCS1		Combined molybdoflavoprotein enzyme deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35660211.	NM_001358530.2(MOCS1):c.*1433T>A GRCh37: Chr6:39872700 GRCh38: Chr6:39904924	MOCS1		Combined molybdoflavoprotein enzyme deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35659712.	NM_001201427.2(DAAM2):c.*2655ATCT[1] GRCh37: Chr6:39872466-39872469 GRCh38: Chr6:39904690-39904693	DAAM2, MOCS1		Combined molybdoflavoprotein enzyme deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35659613.	NM_001201427.2(DAAM2):c.*2655ATCT[3] GRCh37: Chr6:39872465-39872466 GRCh38: Chr6:39904689-39904690	DAAM2, MOCS1		Combined molybdoflavoprotein enzyme deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35659514.	NM_001201427.2(DAAM2):c.*2609C>T GRCh37: Chr6:39872422 GRCh38: Chr6:39904646	DAAM2, MOCS1		Combined molybdoflavoprotein enzyme deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35659415.	NM_001201427.2(DAAM2):c.2545_2548dup GRCh37: Chr6:39872354-39872355 GRCh38: Chr6:39904578-39904579	DAAM2, MOCS1		Combined molybdoflavoprotein enzyme deficiency	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35659216.	NM_001201427.2(DAAM2):c.2451_2455dup GRCh37: Chr6:39872262-39872263 GRCh38: Chr6:39904486-39904487	DAAM2, MOCS1		Combined molybdoflavoprotein enzyme deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35388017.	NM_004531.5(MOCS2):c.99-8_99-5del GRCh37: Chr5:52398059-52398062 GRCh38: Chr5:53102229-53102232	MOCS2		not provided, Combined molybdoflavoprotein enzyme deficiency	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 35387918.	NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala) GRCh37: Chr5:52398005 GRCh38: Chr5:53102175	MOCS2	T50A	not provided, Combined molybdoflavoprotein enzyme deficiency	Benign/Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35387819.	NM_004531.5(MOCS2):c.255A>G (p.Lys85=) GRCh37: Chr5:52397311 GRCh38: Chr5:53101481	MOCS2		not provided, Combined molybdoflavoprotein enzyme deficiency	Benign/Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35387520.	NM_004531.5(MOCS2):c.*44A>C GRCh37: Chr5:52394388 GRCh38: Chr5:53098558	ITGA2, MOCS2		Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Platelet-type bleeding disorder 9, Combined molybdoflavoprotein enzyme deficiency	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 35387321.	NM_004531.5(MOCS2):c.*171G>C GRCh37: Chr5:52394261 GRCh38: Chr5:53098431	ITGA2, MOCS2		Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Combined molybdoflavoprotein enzyme deficiency, Platelet-type bleeding disorder 9	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 35387222.	NM_004531.5(MOCS2):c.*321A>G GRCh37: Chr5:52394111 GRCh38: Chr5:53098281	ITGA2, MOCS2		Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Platelet-type bleeding disorder 9, Combined molybdoflavoprotein enzyme deficiency	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 35387023.	NM_004531.5(MOCS2):c.*413del GRCh37: Chr5:52394019 GRCh38: Chr5:53098189	ITGA2, MOCS2		Platelet-type bleeding disorder 9, Combined molybdoflavoprotein enzyme deficiency, not provided	Benign/Likely benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35386824.	NM_002203.4(ITGA2):c.*4098C>G GRCh37: Chr5:52390527 GRCh38: Chr5:53094697	ITGA2, MOCS2		Combined molybdoflavoprotein enzyme deficiency, Platelet-type bleeding disorder 9	Benign/Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35386725.	NM_002203.4(ITGA2):c.*4045AGT[1] GRCh37: Chr5:52390473-52390475 GRCh38: Chr5:53094643-53094645	ITGA2, MOCS2		Combined molybdoflavoprotein enzyme deficiency, Platelet-type bleeding disorder 9	Benign/Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35386126.	NM_002203.4(ITGA2):c.*3986A>C GRCh37: Chr5:52390415 GRCh38: Chr5:53094585	MOCS2, ITGA2		Combined molybdoflavoprotein enzyme deficiency, Platelet-type bleeding disorder 9	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35386027.	NM_002203.4(ITGA2):c.*3918G>C GRCh37: Chr5:52390347 GRCh38: Chr5:53094517	ITGA2, MOCS2		Combined molybdoflavoprotein enzyme deficiency, Platelet-type bleeding disorder 9	Benign/Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35385728.	NM_002203.4(ITGA2):c.3763_3764del GRCh37: Chr5:52390191-52390192 GRCh38: Chr5:53094361-53094362	ITGA2, MOCS2		Combined molybdoflavoprotein enzyme deficiency, Platelet-type bleeding disorder 9	Benign/Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35385129.	NM_002203.4(ITGA2):c.3385_3386insGAAA GRCh37: Chr5:52389811-52389812 GRCh38: Chr5:53093981-53093982	ITGA2, MOCS2		Combined molybdoflavoprotein enzyme deficiency, Platelet-type bleeding disorder 9	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35384630.	NM_002203.4(ITGA2):c.*3164G>A GRCh37: Chr5:52389593 GRCh38: Chr5:53093763	ITGA2, MOCS2		Combined molybdoflavoprotein enzyme deficiency, Platelet-type bleeding disorder 9	Benign/Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35384131.	NM_002203.4(ITGA2):c.*3026A>G GRCh37: Chr5:52389455 GRCh38: Chr5:53093625	ITGA2, MOCS2		Combined molybdoflavoprotein enzyme deficiency, Platelet-type bleeding disorder 9	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35384032.	NM_002203.4(ITGA2):c.*2999A>G GRCh37: Chr5:52389428 GRCh38: Chr5:53093598	ITGA2, MOCS2		Combined molybdoflavoprotein enzyme deficiency, Platelet-type bleeding disorder 9	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35383933.	NM_002203.4(ITGA2):c.*2940G>A GRCh37: Chr5:52389369 GRCh38: Chr5:53093539	ITGA2, MOCS2		Platelet-type bleeding disorder 9, Combined molybdoflavoprotein enzyme deficiency	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35383834.	NM_002203.4(ITGA2):c.*2939C>T GRCh37: Chr5:52389368 GRCh38: Chr5:53093538	ITGA2, MOCS2		Platelet-type bleeding disorder 9, Combined molybdoflavoprotein enzyme deficiency	Benign/Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35382935.	NM_002203.4(ITGA2):c.*2574C>G GRCh37: Chr5:52389003 GRCh38: Chr5:53093173	ITGA2, MOCS2		Platelet-type bleeding disorder 9, Combined molybdoflavoprotein enzyme deficiency	Benign/Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35382836.	NM_002203.4(ITGA2):c.*2570C>T GRCh37: Chr5:52388999 GRCh38: Chr5:53093169	ITGA2, MOCS2		Platelet-type bleeding disorder 9, Combined molybdoflavoprotein enzyme deficiency	Benign/Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35382737.	NM_002203.4(ITGA2):c.*2570C>A GRCh37: Chr5:52388999 GRCh38: Chr5:53093169	ITGA2, MOCS2		Platelet-type bleeding disorder 9, Combined molybdoflavoprotein enzyme deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35382438.	NM_002203.4(ITGA2):c.*2505CAAA[3] GRCh37: Chr5:52388934-52388937 GRCh38: Chr5:53093104-53093107	ITGA2, MOCS2		Combined molybdoflavoprotein enzyme deficiency, Platelet-type bleeding disorder 9	Benign/Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35381439.	NM_002203.4(ITGA2):c.*2041del GRCh37: Chr5:52388455 GRCh38: Chr5:53092625	ITGA2, MOCS2		Platelet-type bleeding disorder 9, Combined molybdoflavoprotein enzyme deficiency	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35380940.	NM_002203.4(ITGA2):c.*1764del GRCh37: Chr5:52388187 GRCh38: Chr5:53092357	ITGA2, MOCS2		Platelet-type bleeding disorder 9, Combined molybdoflavoprotein enzyme deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35380341.	NM_002203.4(ITGA2):c.*1252G>A GRCh37: Chr5:52387681 GRCh38: Chr5:53091851	ITGA2, MOCS2		Platelet-type bleeding disorder 9, Combined molybdoflavoprotein enzyme deficiency	Benign/Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35380042.	NM_002203.4(ITGA2):c.*894C>T GRCh37: Chr5:52387323 GRCh38: Chr5:53091493	ITGA2, MOCS2		Platelet-type bleeding disorder 9, Combined molybdoflavoprotein enzyme deficiency	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35379743.	NM_002203.4(ITGA2):c.760_761insTTAT GRCh37: Chr5:52387187-52387188 GRCh38: Chr5:53091357-53091358	ITGA2, MOCS2		Platelet-type bleeding disorder 9, Combined molybdoflavoprotein enzyme deficiency	Benign/Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35379644.	NM_002203.4(ITGA2):c.*721A>C GRCh37: Chr5:52387150 GRCh38: Chr5:53091320	ITGA2, MOCS2		Combined molybdoflavoprotein enzyme deficiency, Platelet-type bleeding disorder 9	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35379245.	NM_002203.4(ITGA2):c.475_477del GRCh37: Chr5:52386902-52386904 GRCh38: Chr5:53091072-53091074	ITGA2, MOCS2		Combined molybdoflavoprotein enzyme deficiency, Platelet-type bleeding disorder 9	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 611046.	NM_004531.5(MOCS2):c.346_349del (p.Val116fs) GRCh37: Chr5:52397217-52397220 GRCh38: Chr5:53101387-53101390	MOCS2	V116fs	Combined molybdoflavoprotein enzyme deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter

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Items: 46