"Ambry Genetics"[submitter] AND "CUBN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2418777	NM_001081.4(CUBN):c.10835G>A (p.Arg3612Gln)	CUBN (R3612Q)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2307559	NM_001081.4(CUBN):c.10804G>A (p.Val3602Ile)	CUBN (V3602I)	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 880058	NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe)	CUBN (S3579F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1483766	NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser)	CUBN (A3577S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +4 more	GUncertain significance
Select item 2247006	NM_001081.4(CUBN):c.10586G>C (p.Gly3529Ala)	CUBN (G3529A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1425700	NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys)	CUBN (E3443K)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +3 more	GUncertain significance
Select item 2489790	NM_001081.4(CUBN):c.10285C>G (p.Gln3429Glu)	CUBN (Q3429E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 299363	NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile)	CUBN (V3423I)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GBenign/Likely benign
Select item 2611616	NM_001081.4(CUBN):c.10143C>A (p.Asn3381Lys)	CUBN (N3381K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270280	NM_001081.4(CUBN):c.10138G>C (p.Val3380Leu)	CUBN (V3380L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 299370	NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu)	CUBN (S3359L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3270304	NM_001081.4(CUBN):c.10071T>A (p.Asn3357Lys)	CUBN (N3357K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272149	NM_001081.4(CUBN):c.10046C>T (p.Ser3349Leu)	CUBN (S3349L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1016175	NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu)	CUBN (P3343L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 2381836	NM_001081.4(CUBN):c.9941C>T (p.Pro3314Leu)	CUBN (P3314L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270283	NM_001081.4(CUBN):c.9925G>C (p.Val3309Leu)	CUBN (V3309L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2085892	NM_001081.4(CUBN):c.9667T>C (p.Tyr3223His)	CUBN (Y3223H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3270301	NM_001081.4(CUBN):c.9653A>T (p.Asp3218Val)	CUBN (D3218V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1908873	NM_001081.4(CUBN):c.9622G>A (p.Ala3208Thr)	CUBN (A3208T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2545740	NM_001081.4(CUBN):c.9512C>T (p.Pro3171Leu)	CUBN (P3171L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246190	NM_001081.4(CUBN):c.9509C>T (p.Ser3170Phe)	CUBN (S3170F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325729	NM_001081.4(CUBN):c.9446A>C (p.Gln3149Pro)	CUBN (Q3149P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 299382	NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn)	CUBN (D3100N)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	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 2264596	NM_001081.4(CUBN):c.9272G>T (p.Cys3091Phe)	CUBN (C3091F)	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 3270303	NM_001081.4(CUBN):c.9181G>T (p.Asp3061Tyr)	CUBN (D3061Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 655284	NM_001081.4(CUBN):c.9166G>A (p.Ala3056Thr)	CUBN (A3056T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2541880	NM_001081.4(CUBN):c.9107C>T (p.Ser3036Phe)	CUBN (S3036F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254741	NM_001081.4(CUBN):c.9095A>G (p.Tyr3032Cys)	CUBN (Y3032C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 299384	NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)	CUBN (E3021K)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 299386	NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu)	CUBN (P3012L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 2286575	NM_001081.4(CUBN):c.9001G>A (p.Asp3001Asn)	CUBN (D3001N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 501125	NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile)	CUBN (V2990I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2601245	NM_001081.4(CUBN):c.8851G>A (p.Glu2951Lys)	CUBN (E2951K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217266	NM_001081.4(CUBN):c.8780C>T (p.Pro2927Leu)	CUBN (P2927L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1319047	NM_001081.4(CUBN):c.8765G>A (p.Ser2922Asn)	CUBN (S2922N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2232359	NM_001081.4(CUBN):c.8696C>G (p.Thr2899Ser)	CUBN (T2899S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 658610	NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala)	CUBN (P2894A)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +3 more	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 877384	NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys)	CUBN (E2873K)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 649888	NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly)	CUBN (C2860G)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +3 more	GUncertain significance
Select item 2287537	NM_001081.4(CUBN):c.8539T>A (p.Phe2847Ile)	CUBN (F2847I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557475	NM_001081.4(CUBN):c.8471A>G (p.Asn2824Ser)	CUBN (N2824S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325273	NM_001081.4(CUBN):c.8444C>T (p.Thr2815Ile)	CUBN (T2815I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275825	NM_001081.4(CUBN):c.8409A>T (p.Leu2803Phe)	CUBN (L2803F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270372	NM_001081.4(CUBN):c.8357A>G (p.Asp2786Gly)	CUBN (D2786G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321317	NM_001081.4(CUBN):c.8293G>A (p.Gly2765Arg)	CUBN (G2765R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 299408	NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr)	CUBN (D2735Y)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1403720	NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp)	CUBN (G2695D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 3270279	NM_001081.4(CUBN):c.8080A>C (p.Ile2694Leu)	CUBN (I2694L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559431	NM_001081.4(CUBN):c.8036G>C (p.Gly2679Ala)	CUBN (G2679A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 299413	NM_001081.4(CUBN):c.8021G>A (p.Arg2674His)	CUBN (R2674H)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 2469769	NM_001081.4(CUBN):c.7907G>A (p.Arg2636Gln)	CUBN (R2636Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531183	NM_001081.4(CUBN):c.7870A>C (p.Ser2624Arg)	CUBN (S2624R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284404	NM_001081.4(CUBN):c.7814A>G (p.Asn2605Ser)	CUBN (N2605S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366516	NM_001081.4(CUBN):c.7788C>A (p.Asn2596Lys)	CUBN (N2596K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533707	NM_001081.4(CUBN):c.7733C>T (p.Pro2578Leu)	CUBN (P2578L)	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 2242719	NM_001081.4(CUBN):c.7495C>G (p.Leu2499Val)	CUBN (L2499V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369570	NM_001081.4(CUBN):c.7489C>A (p.Leu2497Met)	CUBN (L2497M)	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 2487045	NM_001081.4(CUBN):c.7454C>G (p.Pro2485Arg)	CUBN (P2485R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2540465	NM_001081.4(CUBN):c.7409A>G (p.Asn2470Ser)	CUBN (N2470S)	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 2283327	NM_001081.4(CUBN):c.7312G>C (p.Ala2438Pro)	CUBN (A2438P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 699684	NM_001081.4(CUBN):c.7300G>A (p.Gly2434Ser)	CUBN (G2434S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1906624	NM_001081.4(CUBN):c.7291G>T (p.Val2431Phe)	CUBN (V2431F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2559156	NM_001081.4(CUBN):c.7121A>C (p.Tyr2374Ser)	CUBN (Y2374S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235663	NM_001081.4(CUBN):c.7120T>C (p.Tyr2374His)	CUBN (Y2374H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 299427	NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val)	CUBN (G2369V)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 2464577	NM_001081.4(CUBN):c.7087T>C (p.Cys2363Arg)	CUBN (C2363R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287481	NM_001081.4(CUBN):c.6904C>T (p.Pro2302Ser)	CUBN (P2302S)	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 2295383	NM_001081.4(CUBN):c.6868G>A (p.Ala2290Thr)	CUBN (A2290T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295382	NM_001081.4(CUBN):c.6867T>G (p.Asp2289Glu)	CUBN (D2289E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 698278	NM_001081.4(CUBN):c.6822-6C>T	CUBN	Single nucleotide variant (intron variant)	Proteinuria, chronic benign +3 more	GConflicting classifications of pathogenicity
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 578989	NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu)	CUBN (P2243L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2382496	NM_001081.4(CUBN):c.6641G>A (p.Ser2214Asn)	CUBN (S2214N)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GUncertain significance
Select item 439577	NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg)	CUBN (G2205R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 2611096	NM_001081.4(CUBN):c.6511G>C (p.Gly2171Arg)	CUBN (G2171R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2712358	NM_001081.4(CUBN):c.6490C>T (p.Pro2164Ser)	CUBN (P2164S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3270300	NM_001081.4(CUBN):c.6480T>A (p.Asp2160Glu)	CUBN (D2160E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408424	NM_001081.4(CUBN):c.6467G>T (p.Arg2156Ile)	CUBN (R2156I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600735	NM_001081.4(CUBN):c.6444C>G (p.Asn2148Lys)	CUBN (N2148K)	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 1928401	NM_001081.4(CUBN):c.6364G>A (p.Val2122Ile)	CUBN (V2122I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2559397	NM_001081.4(CUBN):c.6362A>G (p.His2121Arg)	CUBN (H2121R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1403722	NM_001081.4(CUBN):c.6344A>G (p.Asn2115Ser)	CUBN (N2115S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1348531	NM_001081.4(CUBN):c.6320A>C (p.Lys2107Thr)	CUBN (K2107T)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GUncertain significance
Select item 439587	NM_001081.4(CUBN):c.6268A>G (p.Lys2090Glu)	CUBN (K2090E)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +3 more	GUncertain significance
Select item 2115638	NM_001081.4(CUBN):c.6256G>A (p.Ala2086Thr)	CUBN (A2086T)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GUncertain significance
Select item 2527335	NM_001081.4(CUBN):c.6202T>C (p.Tyr2068His)	CUBN (Y2068H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2616445	NM_001081.4(CUBN):c.6193A>G (p.Thr2065Ala)	CUBN (T2065A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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