ClinVar for MedGen (Select 75652) - ClinVar

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

Links from MedGen

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063887	NM_001358530.2(MOCS1):c.124-124_124-123del	MOCS1 (M1fs)	Deletion (intron variant +2 more)	Combined molybdoflavoprotein enzyme deficiency	GLikely pathogenic
Select item 356644	NM_001358530.2(MOCS1):c.1687C>G (p.Gln563Glu)	MOCS1 (Q476E +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Combined molybdoflavoprotein enzyme deficiency +2 more	GUncertain significance
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 356630	NM_001358530.2(MOCS1):c.*523TCCTG[4]	MOCS1	Microsatellite (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GLikely benign
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 356622	NM_001358530.2(MOCS1):c.771_772dup	MOCS1	Duplication (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 356619	NM_001358530.2(MOCS1):c.*908AATC[5]	MOCS1	Microsatellite (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	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 356606	NM_001358530.2(MOCS1):c.1348_1351dup	MOCS1	Duplication (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GLikely benign
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 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 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 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 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 356594	NM_001201427.2(DAAM2):c.2545_2548dup	DAAM2, MOCS1	Duplication (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency	GBenign
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 353880	NM_004531.5(MOCS2):c.99-8_99-5del	MOCS2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353879	NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala)	MOCS2 (T50A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 353878	NM_004531.5(MOCS2):c.255A>G (p.Lys85=)	MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 353875	NM_004531.5(MOCS2):c.*44A>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Platelet-type bleeding disorder 9 +2 more	GConflicting classifications of pathogenicity
Select item 353873	NM_004531.5(MOCS2):c.*171G>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Platelet-type bleeding disorder 9 +2 more	GConflicting classifications of pathogenicity
Select item 353872	NM_004531.5(MOCS2):c.*321A>G	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Platelet-type bleeding disorder 9 +2 more	GConflicting classifications of pathogenicity
Select item 353870	NM_004531.5(MOCS2):c.*413del	ITGA2, MOCS2	Deletion (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 353868	NM_002203.4(ITGA2):c.*4098C>G	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353867	NM_002203.4(ITGA2):c.*4045AGT[1]	ITGA2, MOCS2	Microsatellite (non-coding transcript variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GBenign/Likely benign
Select item 353861	NM_002203.4(ITGA2):c.*3986A>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353860	NM_002203.4(ITGA2):c.*3918G>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353857	NM_002203.4(ITGA2):c.3763_3764del	ITGA2, MOCS2	Deletion (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GBenign/Likely benign
Select item 353851	NM_002203.4(ITGA2):c.3385_3386insGAAA	ITGA2, MOCS2	Insertion (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GBenign
Select item 353846	NM_002203.4(ITGA2):c.*3164G>A	ITGA2, MOCS2	Single nucleotide variant (non-coding transcript variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353841	NM_002203.4(ITGA2):c.*3026A>G	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353840	NM_002203.4(ITGA2):c.*2999A>G	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353839	NM_002203.4(ITGA2):c.*2940G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353838	NM_002203.4(ITGA2):c.*2939C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353829	NM_002203.4(ITGA2):c.*2574C>G	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353828	NM_002203.4(ITGA2):c.*2570C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353827	NM_002203.4(ITGA2):c.*2570C>A	MOCS2, ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GLikely benign
Select item 353824	NM_002203.4(ITGA2):c.*2505CAAA[3]	ITGA2, MOCS2	Microsatellite (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GBenign/Likely benign
Select item 353814	NM_002203.4(ITGA2):c.*2041del	ITGA2, MOCS2	Deletion (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353809	NM_002203.4(ITGA2):c.*1764del	ITGA2, MOCS2	Deletion (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GLikely benign
Select item 353803	NM_002203.4(ITGA2):c.*1252G>A	MOCS2, ITGA2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353800	NM_002203.4(ITGA2):c.*894C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353797	NM_002203.4(ITGA2):c.760_761insTTAT	ITGA2, MOCS2	Insertion (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign/Likely benign
Select item 353796	NM_002203.4(ITGA2):c.*721A>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 353792	NM_002203.4(ITGA2):c.475_477del	ITGA2, MOCS2	Deletion (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +1 more	GBenign
Select item 6110	NM_004531.5(MOCS2):c.346_349del (p.Val116fs)	MOCS2 (V116fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 47