4338[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
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 353796	NM_002203.4(ITGA2):c.*721A>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +2 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 353800	NM_002203.4(ITGA2):c.*894C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +2 more	GBenign
Select item 353803	NM_002203.4(ITGA2):c.*1252G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +2 more	GBenign/Likely benign
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 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 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 353828	NM_002203.4(ITGA2):c.*2570C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +2 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 353829	NM_002203.4(ITGA2):c.*2574C>G	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 353838	NM_002203.4(ITGA2):c.*2939C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +2 more	GBenign/Likely benign
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 +2 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 +2 more	GBenign
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 +2 more	GBenign
Select item 353846	NM_002203.4(ITGA2):c.*3164G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +2 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 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 905632	NM_002203.4(ITGA2):c.*3813G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Platelet-type bleeding disorder 9 +1 more	GUncertain significance
Select item 353860	NM_002203.4(ITGA2):c.*3918G>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	Combined molybdoflavoprotein enzyme deficiency +2 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 +2 more	GBenign
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 353868	NM_002203.4(ITGA2):c.*4098C>G	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 907140	NM_004531.5(MOCS2):c.*2900A>G	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GLikely benign
Select item 907141	NM_004531.5(MOCS2):c.*2877G>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907142	NM_004531.5(MOCS2):c.*2675A>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907143	NM_004531.5(MOCS2):c.*2672G>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907144	NM_004531.5(MOCS2):c.*2651G>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GBenign
Select item 907145	NM_004531.5(MOCS2):c.*2609G>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 903786	NM_004531.5(MOCS2):c.*2582A>C	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Platelet-type bleeding disorder 9 +1 more	GBenign
Select item 903787	NM_004531.5(MOCS2):c.*2415C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 903788	NM_004531.5(MOCS2):c.*2357T>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GLikely benign
Select item 903789	NM_004531.5(MOCS2):c.*2158C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 903790	NM_004531.5(MOCS2):c.*2045G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GConflicting classifications of pathogenicity
Select item 905687	NM_004531.5(MOCS2):c.*2032G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +2 more	GBenign
Select item 905688	NM_004531.5(MOCS2):c.*1918A>G	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 905689	NM_004531.5(MOCS2):c.*1913G>A	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +2 more	GBenign/Likely benign
Select item 905690	NM_004531.5(MOCS2):c.*1872C>T	ITGA2, MOCS2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 906212	NM_004531.5(MOCS2):c.*1673T>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GBenign
Select item 906213	NM_004531.5(MOCS2):c.*1658G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 906214	NM_004531.5(MOCS2):c.*1545G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 906215	NM_004531.5(MOCS2):c.*1544C>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GBenign
Select item 906216	NM_004531.5(MOCS2):c.*1483C>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907205	NM_004531.5(MOCS2):c.*1424G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907206	NM_004531.5(MOCS2):c.*1284C>G	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907207	NM_004531.5(MOCS2):c.*1167G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907208	NM_004531.5(MOCS2):c.*1011G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GBenign
Select item 907209	NM_004531.5(MOCS2):c.*876T>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 907210	NM_004531.5(MOCS2):c.*837T>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 907211	NM_004531.5(MOCS2):c.*735G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GBenign
Select item 903860	NM_004531.5(MOCS2):c.*722T>C	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 903861	NM_004531.5(MOCS2):c.*673A>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 903862	NM_004531.5(MOCS2):c.*651G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 903863	NM_004531.5(MOCS2):c.*566C>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B +1 more	GBenign
Select item 353869	NM_004531.5(MOCS2):c.*532G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 903864	NM_004531.5(MOCS2):c.*518C>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
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 353871	NM_004531.5(MOCS2):c.*372G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 2655461	NM_004531.5(MOCS2):c.*371C>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 905757	NM_004531.5(MOCS2):c.*344C>T	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
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 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 353874	NM_004531.5(MOCS2):c.*143G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 905758	NM_004531.5(MOCS2):c.*122G>A	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
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 905759	NM_004531.5(MOCS2):c.*32C>G	MOCS2	Single nucleotide variant (3 prime UTR variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GUncertain significance
Select item 6115	NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr)	MOCS2	Single nucleotide variant (stop lost +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1169214	NM_004531.5(MOCS2):c.560A>G (p.Asn187Ser)	MOCS2 (N187S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2197042	NM_004531.5(MOCS2):c.555A>T (p.Ala185=)	MOCS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2121495	NM_004531.5(MOCS2):c.550T>C (p.Trp184Arg)	MOCS2 (W184R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1062327	NM_004531.5(MOCS2):c.550T>G (p.Trp184Gly)	MOCS2 (W184G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1145597	NM_004531.5(MOCS2):c.540A>G (p.Lys180=)	MOCS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 6108	NM_004531.5(MOCS2):c.539_540del (p.Lys180fs)	MOCS2 (K180fs)	Deletion (frameshift variant +1 more)	Abnormality of metabolism/homeostasis +2 more	GLikely pathogenic
Select item 1450807	NM_004531.5(MOCS2):c.539A>G (p.Lys180Arg)	MOCS2 (K180R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1119571	NM_004531.5(MOCS2):c.534A>G (p.Gly178=)	MOCS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1102045	NM_004531.5(MOCS2):c.531A>G (p.Lys177=)	MOCS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1439457	NM_004531.5(MOCS2):c.523A>G (p.Thr175Ala)	MOCS2 (T175A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2052660	NM_004531.5(MOCS2):c.519A>G (p.Ser173=)	MOCS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1475527	NM_004531.5(MOCS2):c.514G>C (p.Glu172Gln)	MOCS2 (E172Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2043497	NM_004531.5(MOCS2):c.512A>G (p.Glu171Gly)	MOCS2 (E171G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1436575	NM_004531.5(MOCS2):c.511G>A (p.Glu171Lys)	MOCS2 (E171K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1132764	NM_004531.5(MOCS2):c.510C>T (p.Tyr170=)	MOCS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1056219	NM_004531.5(MOCS2):c.509A>G (p.Tyr170Cys)	MOCS2 (Y170C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2125699	NM_004531.5(MOCS2):c.507A>G (p.Ile169Met)	MOCS2 (I169M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 6109	NM_004531.5(MOCS2):c.502G>A (p.Glu168Lys)	MOCS2 (E168K)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	GPathogenic
Select item 3043570	NM_004531.5(MOCS2):c.502-3T>C	MOCS2	Single nucleotide variant (intron variant)	MOCS2-related disorder	GLikely benign
Select item 1953923	NM_004531.5(MOCS2):c.502-7T>A	MOCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1131668	NM_004531.5(MOCS2):c.502-7T>G	MOCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865314	NM_004531.5(MOCS2):c.502-14A>G	MOCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703437	NM_004531.5(MOCS2):c.502-15G>A	MOCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803163	NM_004531.5(MOCS2):c.502-19T>C	MOCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246252	NM_004531.5(MOCS2):c.502-188del	MOCS2	Deletion (intron variant)	not provided	GBenign
Select item 2792678	NM_004531.5(MOCS2):c.501+19A>G	MOCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581141	NM_004531.5(MOCS2):c.501+7T>A	MOCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1428549	NM_004531.5(MOCS2):c.501+4A>G	MOCS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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