1099[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 3134920	NM_006768.5(BRAP):c.1766A>G (p.Lys589Arg)	BRAP (K589R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351677	NM_006768.5(BRAP):c.1760G>A (p.Arg587His)	BRAP (R587H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134919	NM_006768.5(BRAP):c.1757G>T (p.Gly586Val)	BRAP (G586V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134918	NM_006768.5(BRAP):c.1730G>A (p.Gly577Asp)	BRAP (G577D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134917	NM_006768.5(BRAP):c.1726G>C (p.Gly576Arg)	BRAP (G576R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486126	NM_006768.5(BRAP):c.1697T>C (p.Met566Thr)	BRAP (M566T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485551	NM_006768.5(BRAP):c.1540G>A (p.Val514Met)	BRAP (V514M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461227	NM_006768.5(BRAP):c.1534G>A (p.Glu512Lys)	BRAP (E512K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134915	NM_006768.5(BRAP):c.1442C>G (p.Ala481Gly)	BRAP (A481G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768584	NM_006768.5(BRAP):c.1353G>A (p.Lys451=)	BRAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3134914	NM_006768.5(BRAP):c.1259G>A (p.Arg420Gln)	BRAP (R420Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134913	NM_006768.5(BRAP):c.1177G>A (p.Gly393Arg)	BRAP (G393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781699	NM_006768.5(BRAP):c.1065G>A (p.Thr355=)	BRAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715522	NM_006768.5(BRAP):c.1023C>T (p.Val341=)	BRAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2234227	NM_006768.5(BRAP):c.947A>C (p.Lys316Thr)	BRAP (K316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489490	NM_006768.5(BRAP):c.935T>C (p.Val312Ala)	BRAP (V312A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490648	NM_006768.5(BRAP):c.928G>A (p.Glu310Lys)	BRAP (E310K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277906	NM_006768.5(BRAP):c.851A>C (p.Asn284Thr)	BRAP (N284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768585	NM_006768.5(BRAP):c.750C>T (p.Gly250=)	BRAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2622453	NM_006768.5(BRAP):c.722G>A (p.Arg241Lys)	BRAP (R241K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768586	NM_006768.5(BRAP):c.579T>C (p.Ile193=)	BRAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2520437	NM_006768.5(BRAP):c.566A>G (p.Glu189Gly)	BRAP (E189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605738	NM_006768.5(BRAP):c.493A>G (p.Ile165Val)	BRAP (I165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400075	NM_006768.5(BRAP):c.327A>C (p.Glu109Asp)	BRAP (E109D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328192	NM_006768.5(BRAP):c.316C>A (p.His106Asn)	BRAP (H106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538632	NM_006768.5(BRAP):c.229A>G (p.Met77Val)	BRAP (M77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519784	NM_006768.5(BRAP):c.211G>C (p.Asp71His)	BRAP (D71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248869	NM_006768.5(BRAP):c.145G>A (p.Glu49Lys)	BRAP (E49K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778660	NM_006768.5(BRAP):c.126C>T (p.Ala42=)	BRAP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2519122	NM_006768.5(BRAP):c.116C>G (p.Thr39Arg)	BRAP (T39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134921	NM_006768.5(BRAP):c.19G>C (p.Val7Leu)	BRAP (V7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980455	GRCh37/hg19 12q24.12(chr12:111870610-112123552)x3	BRAP, ATXN2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 624470	GRCh37/hg19 12q24.12(chr12:111861041-112280895)x3	ATXN2, BRAP +4 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253882	GRCh37/hg19 12q24.12(chr12:111965765-112147523)x1	ATXN2, BRAP +1 more	Copy number loss	See cases	GUncertain significance

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Items: 40