MOV10[gene] - ClinVar

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

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 57493	GRCh38/hg38 1p13.2(chr1:112147402-113470058)x3	CAPZA1, CTTNBP2NL +61 more	Copy number gain	See cases	GUncertain significance
Select item 146756	GRCh38/hg38 1p13.2(chr1:112625023-113046966)x3	CAPZA1, LINC01356 +27 more	Copy number gain	See cases	GLikely benign
Select item 783293	NM_001321324.2(MOV10):c.78G>A (p.Leu26=)	MOV10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2221440	NM_001321324.2(MOV10):c.94C>A (p.Arg32Ser)	MOV10 (R32S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 57014	GRCh38/hg38 1p13.2(chr1:112687324-113216458)x3	LINC01356, LINC01357 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2568814	NM_001321324.2(MOV10):c.235C>G (p.Leu79Val)	MOV10 (L23V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318919	NM_001321324.2(MOV10):c.236T>C (p.Leu79Pro)	MOV10 (L23P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470998	NM_001321324.2(MOV10):c.284T>C (p.Leu95Pro)	MOV10 (L39P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457611	NM_001321324.2(MOV10):c.327G>T (p.Lys109Asn)	MOV10 (K109N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295270	NM_001321324.2(MOV10):c.368G>A (p.Gly123Asp)	MOV10 (G67D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036675	NM_001321324.2(MOV10):c.418C>G (p.Leu140Val)	MOV10 (L140V +1 more)	Single nucleotide variant (missense variant)	MOV10-related condition	GLikely benign
Select item 2603504	NM_001321324.2(MOV10):c.425G>A (p.Arg142His)	MOV10 (R142H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713189	NM_001321324.2(MOV10):c.537C>T (p.Phe179=)	MOV10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2545623	NM_001321324.2(MOV10):c.597T>A (p.His199Gln)	MOV10 (H143Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518376	NM_001321324.2(MOV10):c.700A>C (p.Ile234Leu)	MOV10 (I234L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248607	NM_001321324.2(MOV10):c.703G>A (p.Ala235Thr)	MOV10 (A235T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731932	NM_001321324.2(MOV10):c.774G>A (p.Arg258=)	MOV10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342312	NM_001321324.2(MOV10):c.869C>T (p.Ala290Val)	MOV10 (A234V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2280505	NM_001321324.2(MOV10):c.961G>T (p.Ala321Ser)	MOV10 (A265S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593270	NM_001321324.2(MOV10):c.1085C>T (p.Ser362Leu)	MOV10 (S362L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773150	NM_001321324.2(MOV10):c.1141-6C>T	MOV10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2287791	NM_001321324.2(MOV10):c.1240A>G (p.Lys414Glu)	MOV10 (K414E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468161	NM_001321324.2(MOV10):c.1396C>T (p.Arg466Cys)	MOV10 (R466C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392069	NM_001321324.2(MOV10):c.1703G>A (p.Arg568Gln)	MOV10 (R568Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770115	NM_001321324.2(MOV10):c.1779+5T>C	MOV10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2321997	NM_001321324.2(MOV10):c.1792T>G (p.Trp598Gly)	MOV10 (W598G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731063	NM_001321324.2(MOV10):c.1797C>T (p.Asp599=)	MOV10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2603684	NM_001321324.2(MOV10):c.1798G>A (p.Ala600Thr)	MOV10 (A544T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780257	NM_001321324.2(MOV10):c.1893G>C (p.Ser631=)	MOV10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2602853	NM_001321324.2(MOV10):c.2138A>T (p.Tyr713Phe)	MOV10 (Y713F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548885	NM_001321324.2(MOV10):c.2147G>A (p.Gly716Asp)	MOV10 (G660D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513328	NM_001321324.2(MOV10):c.2272G>A (p.Val758Met)	MOV10 (V702M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604185	NM_001321324.2(MOV10):c.2285G>A (p.Arg762His)	MOV10 (R706H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786401	NM_001321324.2(MOV10):c.2294G>A (p.Arg765His)	MOV10 (R765H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2599011	NM_001321324.2(MOV10):c.2300C>T (p.Ala767Val)	MOV10 (A767V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467824	NM_001321324.2(MOV10):c.2521C>T (p.Arg841Cys)	MOV10 (R785C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481311	NM_001321324.2(MOV10):c.2689G>A (p.Gly897Ser)	MOV10 (G897S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 929739	NM_001321324.2(MOV10):c.2831A>G (p.Tyr944Cys)	MOV10 (Y888C +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 2553993	NM_001321324.2(MOV10):c.2942T>A (p.Leu981His)	MOV10 (L981H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623609	NM_001321324.2(MOV10):c.2969G>T (p.Gly990Val)	MOV10 (G934V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711972	NM_001321324.2(MOV10):c.2979G>T (p.Leu993=)	MOV10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2331069	NM_001321324.2(MOV10):c.2997G>C (p.Trp999Cys)	MOV10 (W943C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 549573	NC_000001.11:g.112796384_112887499dup	LINC01356, CAPZA1 +12 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 3063355	GRCh37/hg19 1p13.2(chr1:113095600-113554789)x3	CAPZA1, MOV10 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2685818	GRCh37/hg19 1p13.2(chr1:113223619-113676753)x3	LRIG2, MOV10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685817	GRCh37/hg19 1p13.2(chr1:113201375-113571076)x3	CAPZA1, MOV10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685816	GRCh37/hg19 1p13.2(chr1:113192038-113703255)x3	CAPZA1, LRIG2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	CSDE1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	DDX20, LRIF1 +34 more	Deletion	not provided	GPathogenic
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 687081	GRCh37/hg19 1p13.2(chr1:113234268-113743303)x3	LRIG2, MOV10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 253907	GRCh37/hg19 1p13.2(chr1:113213652-113947403)x3	CAPZA1, MAGI3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 221415	GRCh37/hg19 1p13.2(chr1:113134186-113265713)x3	CAPZA1, MOV10 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61