ClinVar for Gene (Select 8029) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256867	NM_001081.4(CUBN):c.10390C>G (p.Pro3464Ala)	CUBN (P3464A)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign	GUncertain significance
Select item 3255214	NM_001081.4(CUBN):c.10009_10012del (p.Leu3337fs)	CUBN (L3337fs)	Microsatellite (frameshift variant)	Proteinuria, chronic benign	GPathogenic
Select item 3254665	NM_001081.4(CUBN):c.3889C>T (p.Pro1297Ser)	CUBN (P1297S)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign	GUncertain significance
Select item 3244830	NC_000010.10:g.(?_17151619)_(17157616_?)del	CUBN	Deletion	Imerslund-Grasbeck syndrome	GPathogenic
Select item 3237407	NM_001081.4(CUBN):c.1231-5C>G	CUBN, LOC129390143	Single nucleotide variant (intron variant)	Proteinuria, chronic benign	GUncertain significance
Select item 3237403	NM_001081.4(CUBN):c.6905C>T (p.Pro2302Leu)	CUBN (P2302L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 3236198	NM_001081.4(CUBN):c.5698G>A (p.Glu1900Lys)	CUBN (E1900K)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 3235995	NM_001081.4(CUBN):c.6297_6298insT (p.Arg2100Ter)	CUBN (R2100*)	Insertion (nonsense)	Imerslund-Grasbeck syndrome type 1	GPathogenic
Select item 3235994	NM_001081.4(CUBN):c.4042G>T (p.Gly1348Ter)	CUBN (G1348*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome type 1	GPathogenic
Select item 3235177	NM_001081.4(CUBN):c.5927-1G>A	CUBN	Single nucleotide variant (splice acceptor variant)	Imerslund-Grasbeck syndrome type 1	GLikely pathogenic
Select item 3220910	NM_001081.4(CUBN):c.591C>G (p.Tyr197Ter)	CUBN (Y197*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome type 1	GPathogenic
Select item 3078940	NM_001081.4(CUBN):c.9772A>C (p.Ser3258Arg)	CUBN (S3258R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078939	NM_001081.4(CUBN):c.9278A>G (p.His3093Arg)	CUBN (H3093R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078937	NM_001081.4(CUBN):c.9182A>T (p.Asp3061Val)	CUBN (D3061V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078936	NM_001081.4(CUBN):c.8620G>A (p.Val2874Met)	CUBN (V2874M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078934	NM_001081.4(CUBN):c.7732C>T (p.Pro2578Ser)	CUBN (P2578S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078933	NM_001081.4(CUBN):c.7654T>C (p.Ser2552Pro)	CUBN (S2552P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078932	NM_001081.4(CUBN):c.7466G>A (p.Arg2489Gln)	CUBN (R2489Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3078931	NM_001081.4(CUBN):c.7426C>T (p.Arg2476Trp)	CUBN (R2476W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078929	NM_001081.4(CUBN):c.7345A>G (p.Met2449Val)	CUBN (M2449V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3078928	NM_001081.4(CUBN):c.7202A>G (p.His2401Arg)	CUBN (H2401R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078927	NM_001081.4(CUBN):c.6893G>A (p.Gly2298Glu)	CUBN (G2298E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078926	NM_001081.4(CUBN):c.6808G>A (p.Glu2270Lys)	CUBN (E2270K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078925	NM_001081.4(CUBN):c.6398A>C (p.His2133Pro)	CUBN (H2133P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078924	NM_001081.4(CUBN):c.6110T>C (p.Leu2037Pro)	CUBN (L2037P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078923	NM_001081.4(CUBN):c.6011T>A (p.Val2004Glu)	CUBN (V2004E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078922	NM_001081.4(CUBN):c.5720A>C (p.Tyr1907Ser)	CUBN (Y1907S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078921	NM_001081.4(CUBN):c.5579A>G (p.His1860Arg)	CUBN (H1860R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078920	NM_001081.4(CUBN):c.5566A>T (p.Ile1856Phe)	CUBN (I1856F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078919	NM_001081.4(CUBN):c.5254C>T (p.Pro1752Ser)	CUBN (P1752S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078918	NM_001081.4(CUBN):c.5030G>A (p.Arg1677His)	CUBN (R1677H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078917	NM_001081.4(CUBN):c.494C>T (p.Pro165Leu)	CUBN (P165L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078916	NM_001081.4(CUBN):c.4924C>T (p.Pro1642Ser)	CUBN (P1642S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078915	NM_001081.4(CUBN):c.4490G>C (p.Arg1497Thr)	CUBN (R1497T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078914	NM_001081.4(CUBN):c.4241A>G (p.Asn1414Ser)	CUBN (N1414S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078913	NM_001081.4(CUBN):c.3739C>T (p.Leu1247Phe)	CUBN (L1247F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078912	NM_001081.4(CUBN):c.2886A>G (p.Ile962Met)	CUBN (I962M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3078911	NM_001081.4(CUBN):c.225T>A (p.Asp75Glu)	CUBN (D75E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3078910	NM_001081.4(CUBN):c.2209A>C (p.Met737Leu)	CUBN (M737L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078909	NM_001081.4(CUBN):c.1974C>A (p.Asp658Glu)	CUBN (D658E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078908	NM_001081.4(CUBN):c.1828T>C (p.Tyr610His)	CUBN (Y610H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078907	NM_001081.4(CUBN):c.1550C>G (p.Thr517Ser)	CUBN (T517S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078906	NM_001081.4(CUBN):c.143G>A (p.Arg48Lys)	CUBN (R48K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078905	NM_001081.4(CUBN):c.1285T>A (p.Cys429Ser)	CUBN, LOC129390143 (C429S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078904	NM_001081.4(CUBN):c.10738C>G (p.Pro3580Ala)	CUBN (P3580A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078903	NM_001081.4(CUBN):c.1061C>T (p.Ser354Leu)	CUBN (S354L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065527	NM_001081.4(CUBN):c.3220T>A (p.Cys1074Ser)	CUBN (C1074S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 3063830	NM_001081.4(CUBN):c.8909G>A (p.Arg2970His)	CUBN (R2970H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063176	GRCh37/hg19 10p13(chr10:15634150-16873686)x3	C1QL3, CUBN +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063173	GRCh37/hg19 10p13(chr10:15595630-16873686)x3	C1QL3, CUBN +4 more	Copy number gain	not specified	GUncertain significance
Select item 3061627	NM_001081.4(CUBN):c.108C>T (p.Ser36=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3061232	NM_001081.4(CUBN):c.9797G>C (p.Gly3266Ala)	CUBN (G3266A)	Single nucleotide variant (missense variant)	CUBN-related disorder	GUncertain significance
Select item 3058346	NM_001081.4(CUBN):c.9975A>G (p.Leu3325=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3057767	NM_001081.4(CUBN):c.10359G>A (p.Leu3453=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3055580	NM_001081.4(CUBN):c.828A>G (p.Thr276=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3054023	NM_001081.4(CUBN):c.6272-4G>A	CUBN	Single nucleotide variant (intron variant)	CUBN-related disorder	GLikely benign
Select item 3053969	NM_001081.4(CUBN):c.7489C>T (p.Leu2497=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3048520	NM_001081.4(CUBN):c.10180+6G>A	CUBN	Single nucleotide variant (intron variant)	CUBN-related disorder	GLikely benign
Select item 3047353	NM_001081.4(CUBN):c.3330-2A>G	CUBN	Single nucleotide variant (splice acceptor variant)	CUBN-related disorder	GLikely pathogenic
Select item 3044047	NM_001081.4(CUBN):c.4459C>A (p.Arg1487=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3043882	NM_001081.4(CUBN):c.2349C>T (p.Thr783=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3041970	NM_001081.4(CUBN):c.5643A>T (p.Thr1881=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3041321	NM_001081.4(CUBN):c.5952G>A (p.Thr1984=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3040926	NM_001081.4(CUBN):c.6435T>C (p.Ser2145=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3039767	NM_001081.4(CUBN):c.8175C>T (p.His2725=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3036185	NM_001081.4(CUBN):c.2791+7G>A	CUBN	Single nucleotide variant (intron variant)	CUBN-related disorder	GLikely benign
Select item 3034924	NM_001081.4(CUBN):c.3015T>C (p.Cys1005=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3032800	NM_001081.4(CUBN):c.120A>G (p.Gln40=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3032437	NM_001081.4(CUBN):c.7764C>T (p.Asp2588=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3032400	NM_001081.4(CUBN):c.2262G>A (p.Glu754=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3032390	NM_001081.4(CUBN):c.9393G>A (p.Val3131=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3030826	NM_001081.4(CUBN):c.2447-5T>A	CUBN	Single nucleotide variant (intron variant)	CUBN-related disorder	GLikely benign
Select item 3030167	NM_001081.4(CUBN):c.5199A>G (p.Ala1733=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 3026568	NM_001081.4(CUBN):c.1030G>A (p.Gly344Arg)	CUBN (G344R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023470	NM_001081.4(CUBN):c.1230+20T>C	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3020833	NM_001081.4(CUBN):c.9827-20G>A	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3018543	NM_001081.4(CUBN):c.8811A>G (p.Pro2937=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3017213	NM_001081.4(CUBN):c.8691A>T (p.Thr2897=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3016791	NM_001081.4(CUBN):c.8592C>T (p.Phe2864=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3014898	NM_001081.4(CUBN):c.6716A>G (p.His2239Arg)	CUBN (H2239R)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 3013947	NM_001081.4(CUBN):c.10528+1G>A	CUBN	Single nucleotide variant (splice donor variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 3012546	NM_001081.4(CUBN):c.1111+11A>G	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3010430	NM_001081.4(CUBN):c.312A>G (p.Gln104=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 3008677	NM_001081.4(CUBN):c.9237-1G>C	CUBN	Single nucleotide variant (splice acceptor variant)	Imerslund-Grasbeck syndrome	GLikely pathogenic
Select item 3003075	NM_001081.4(CUBN):c.9538G>A (p.Asp3180Asn)	CUBN (D3180N)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 2998338	NM_001081.4(CUBN):c.2111-20C>T	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2998106	NM_001081.4(CUBN):c.7884T>C (p.Cys2628=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2997668	NM_001081.4(CUBN):c.7612T>C (p.Ser2538Pro)	CUBN (S2538P)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome	GUncertain significance
Select item 2989601	NM_001081.4(CUBN):c.5733+9C>T	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2987136	NM_001081.4(CUBN):c.1674C>T (p.Leu558=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2984600	NM_001081.4(CUBN):c.2447-9T>C	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2982712	NM_001081.4(CUBN):c.8756-18C>A	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2974678	NM_001081.4(CUBN):c.884-8T>C	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2963036	NM_001081.4(CUBN):c.9786A>G (p.Leu3262=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2962981	NM_001081.4(CUBN):c.1231-10T>C	CUBN, LOC129390143	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2960213	NM_001081.4(CUBN):c.6276C>A (p.Cys2092Ter)	CUBN (C2092*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome	GPathogenic
Select item 2959664	NM_001081.4(CUBN):c.6696G>A (p.Val2232=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2958744	NM_001081.4(CUBN):c.8165del (p.Pro2722fs)	CUBN (P2722fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome	GPathogenic
Select item 2957805	NM_001081.4(CUBN):c.2110+17T>C	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome	GLikely benign
Select item 2955116	NM_001081.4(CUBN):c.6504C>A (p.Pro2168=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome	GLikely benign

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