ClinVar for Gene (Select 389) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2367773	NM_175744.5(RHOC):c.443C>T (p.Ala148Val)	RHOC (A148V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336435	NM_175744.5(RHOC):c.545G>A (p.Arg182His)	RHOC (R182H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305408	NM_175744.5(RHOC):c.415G>A (p.Val139Ile)	RHOC (V139I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274581	NM_175744.5(RHOC):c.69C>G (p.Ile23Met)	RHOC (I23M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809109	GRCh37/hg19 1p13.2(chr1:113247034-113775137)x3	LRIG2, PPM1J +3 more	Copy number gain	not provided	GUncertain significance
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 565140	GRCh37/hg19 1p13.2(chr1:113247033-113784170)x3	LRIG2, SLC16A1 +3 more	Copy number gain	not provided	GLikely benign
Select item 565139	GRCh37/hg19 1p13.2(chr1:113247033-113703255)x3	SLC16A1, TAFA3 +3 more	Copy number gain	not provided	GLikely benign
Select item 549573	NC_000001.11:g.112796384_112887499dup	LINC01356, CAPZA1 +12 more	Duplication	Primary amenorrhea	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
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 146756	GRCh38/hg38 1p13.2(chr1:112625023-113046966)x3	CAPZA1, LINC01356 +27 more	Copy number gain	See cases	GLikely benign
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 57014	GRCh38/hg38 1p13.2(chr1:112687324-113216458)x3	LINC01356, LINC01357 +32 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 32