ClinVar for MedGen (Select 865256) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338368	NM_001081.4(CUBN):c.9286_9287del (p.Leu3096fs)	CUBN (L3096fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome type 1	GPathogenic
Select item 3336804	NM_001081.4(CUBN):c.2301G>C (p.Glu767Asp)	CUBN (E767D)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1	GPathogenic
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 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 2585161	NM_001081.4(CUBN):c.4351-1G>C	CUBN	Single nucleotide variant (splice acceptor variant)	Imerslund-Grasbeck syndrome type 1	GLikely pathogenic
Select item 1805548	NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)	CUBN (L2301*)	Duplication (nonsense +1 more)	Imerslund-Grasbeck syndrome type 1	GPathogenic
Select item 1709747	NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)	CUBN (A816T)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1	GUncertain significance
Select item 1701633	NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val)	CUBN (A1202V)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +1 more	GUncertain significance
Select item 1699902	NM_001081.4(CUBN):c.2792-1G>T	CUBN	Single nucleotide variant (splice acceptor variant)	Proteinuria, chronic benign +1 more	GLikely pathogenic
Select item 1670809	NM_001081.4(CUBN):c.5964C>T (p.Pro1988=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GLikely benign
Select item 1665227	NM_001081.4(CUBN):c.2997A>G (p.Thr999=)	CUBN	Single nucleotide variant (synonymous variant)	Proteinuria, chronic benign +2 more	GLikely benign
Select item 1665165	NM_001081.4(CUBN):c.3672+20C>T	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome +2 more	GLikely benign
Select item 1642624	NM_001081.4(CUBN):c.5469C>T (p.Ile1823=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +2 more	GLikely benign
Select item 1639495	NM_001081.4(CUBN):c.9826+15G>A	CUBN	Single nucleotide variant (intron variant)	Proteinuria, chronic benign +2 more	GLikely benign
Select item 1631641	NM_001081.4(CUBN):c.7533+17G>A	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome +2 more	GLikely benign
Select item 1629467	NM_001081.4(CUBN):c.2110+18T>C	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome +2 more	GBenign/Likely benign
Select item 1622542	NM_001081.4(CUBN):c.8410+18T>C	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome +2 more	GLikely benign
Select item 1614313	NM_001081.4(CUBN):c.10038C>T (p.His3346=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +2 more	GLikely benign
Select item 1600533	NM_001081.4(CUBN):c.6462+19C>G	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome +2 more	GBenign/Likely benign
Select item 1590987	NM_001081.4(CUBN):c.8913C>T (p.Ser2971=)	CUBN	Single nucleotide variant (synonymous variant)	Proteinuria, chronic benign +2 more	GLikely benign
Select item 1587149	NM_001081.4(CUBN):c.9455-13T>C	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GLikely benign
Select item 1586088	NM_001081.4(CUBN):c.4959G>A (p.Ala1653=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GLikely benign
Select item 1571700	NM_001081.4(CUBN):c.7000+15A>T	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GLikely benign
Select item 1562504	NM_001081.4(CUBN):c.4696-16G>T	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GBenign
Select item 1562480	NM_001081.4(CUBN):c.1112-12A>G	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome +2 more	GLikely benign
Select item 1552192	NM_001081.4(CUBN):c.5733+16C>T	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GLikely benign
Select item 1533539	NM_001081.4(CUBN):c.1644T>C (p.Phe548=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GLikely benign
Select item 1514979	NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu)	CUBN (P3412L)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	GUncertain significance
Select item 1501240	NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser)	CUBN (N3176S)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	GUncertain significance
Select item 1500467	NM_001081.4(CUBN):c.1418-9C>A	CUBN	Single nucleotide variant (intron variant)	Proteinuria, chronic benign +2 more	GUncertain significance
Select item 1492739	NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala)	CUBN (E1786A)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
Select item 1490662	NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val)	CUBN (D2639V)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	GUncertain significance
Select item 1486054	NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr)	CUBN (A1920T)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 1485275	NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp)	CUBN (R2063W)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +4 more	GUncertain significance
Select item 1485050	NM_001081.4(CUBN):c.2476G>A (p.Val826Ile)	CUBN (V826I)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 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 1478369	NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val)	CUBN (I2071V)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	GUncertain significance
Select item 1475448	NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg)	CUBN (G818R)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	GUncertain significance
Select item 1473548	NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala)	CUBN, LOC129390143 (T412A)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GUncertain significance
Select item 1449996	NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg)	CUBN (G613R)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	GUncertain significance
Select item 1447337	NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg)	CUBN (P2466R)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GUncertain significance
Select item 1440219	NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr)	CUBN (C932Y)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	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 1422089	NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr)	CUBN (A931T)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GUncertain significance
Select item 1420081	NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr)	CUBN (D2455Y)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GUncertain significance
Select item 1418251	NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu)	CUBN (P1866L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
Select item 1416251	NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val)	CUBN (I1310V)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	GUncertain significance
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 1401828	NM_001081.4(CUBN):c.5982G>A (p.Pro1994=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
Select item 1397779	NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro)	CUBN (S3599P)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	GUncertain significance
Select item 1397683	NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr)	CUBN (H1330Y)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
Select item 1389292	NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser)	CUBN (N2085S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
Select item 1382019	NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr)	CUBN (S913T)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +3 more	GUncertain significance
Select item 1380388	NM_001081.4(CUBN):c.614C>T (p.Thr205Met)	CUBN, LOC126860871 (T205M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1378907	NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg)	CUBN (Q1645R)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GUncertain significance
Select item 1378666	NM_001081.4(CUBN):c.1715A>T (p.His572Leu)	CUBN (H572L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +3 more	GUncertain significance
Select item 1370428	NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)	CUBN (R1636L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1357526	NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys)	CUBN, LOC129390143 (W424C)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	GUncertain significance
Select item 1353782	NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys)	CUBN (S2087C)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 1350271	NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys)	CUBN (R1377C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1333207	NM_001081.4(CUBN):c.6821+3A>G	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GUncertain significance
Select item 1327311	NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys)	CUBN (R1547C)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 1322176	NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)	CUBN (W3411*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome type 1 +2 more	GPathogenic
Select item 1322175	NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)	CUBN (E3538*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome type 1 +3 more	GPathogenic/Likely pathogenic
Select item 1318759	NM_001081.4(CUBN):c.5965G>A (p.Val1989Met)	CUBN (V1989M)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
Select item 1255423	NM_001081.4(CUBN):c.594-34G>A	CUBN, LOC126860871	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GBenign
Select item 1255422	NM_001081.4(CUBN):c.6463-22A>C	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GBenign
Select item 1248498	NM_001081.4(CUBN):c.7912+25T>C	CUBN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1230954	NM_001081.4(CUBN):c.4970-22A>C	CUBN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1220779	NM_001081.4(CUBN):c.593+33dup	CUBN	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1179177	NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)	CUBN (E266*)	Single nucleotide variant (nonsense)	Proteinuria, chronic benign +1 more	GPathogenic
Select item 1179174	NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)	CUBN (W2821*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome type 1 +2 more	GPathogenic
Select item 1179172	NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter)	CUBN (R2919*)	Single nucleotide variant (nonsense)	Proteinuria, chronic benign +1 more	GLikely pathogenic
Select item 1174349	NM_001081.4(CUBN):c.10180+30A>G	CUBN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1169337	NM_001081.4(CUBN):c.123-16C>G	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GBenign
Select item 1144183	NM_001081.4(CUBN):c.1704C>G (p.Leu568=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GLikely benign
Select item 1140545	NM_001081.4(CUBN):c.5424G>T (p.Val1808=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +2 more	GLikely benign
Select item 1138262	NM_001081.4(CUBN):c.5355G>A (p.Leu1785=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +2 more	GLikely benign
Select item 1127819	NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +2 more	GLikely benign
Select item 1098928	NM_001081.4(CUBN):c.2961C>T (p.Asn987=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +2 more	GLikely benign
Select item 1082454	NM_001081.4(CUBN):c.5130C>T (p.Ser1710=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GLikely benign
Select item 1074937	NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)	CUBN (R3488*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1060913	NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser)	CUBN (G2856S)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	GUncertain significance
Select item 1040445	NM_001081.4(CUBN):c.427A>C (p.Asn143His)	CUBN (N143H)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +3 more	GUncertain significance
Select item 1036352	NM_001081.4(CUBN):c.5416C>A (p.His1806Asn)	CUBN (H1806N)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 1036062	NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala)	CUBN (V2659A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1034822	NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg)	CUBN (Q341R)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GUncertain significance
Select item 1033272	NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu)	CUBN (P2469L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GUncertain significance
Select item 1033271	NM_001081.4(CUBN):c.4165del (p.Tyr1389fs)	CUBN (Y1389fs)	Deletion (frameshift variant)	Proteinuria, chronic benign +2 more	GPathogenic/Likely pathogenic
Select item 1032915	NM_030943.4(AMN):c.1324G>A (p.Val442Ile)	AMN (V442I)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 1029049	NM_001081.4(CUBN):c.265A>C (p.Lys89Gln)	CUBN (K89Q)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GUncertain significance
Select item 1023718	NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn)	CUBN (D1568N)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	GUncertain significance
Select item 1023714	NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly)	CUBN (S3369G)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 1022289	NM_001081.4(CUBN):c.6821+2T>C	CUBN	Single nucleotide variant (splice donor variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1021317	NM_001081.4(CUBN):c.10838G>A (p.Arg3613His)	CUBN (R3613H)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GUncertain significance

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