"PreventionGenetics, part of Exact Sciences"[submitter] AND "CUBN"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1531238	NM_001081.4(CUBN):c.10834C>T (p.Arg3612Trp)	CUBN (R3612W)	Single nucleotide variant (missense variant)	CUBN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 299356	NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg)	CUBN (G3587R)	Single nucleotide variant (missense variant)	CUBN-related disorder +2 more	GBenign/Likely benign
Select item 2058356	NM_001081.4(CUBN):c.10644T>A (p.Leu3548=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	GLikely benign
Select item 299360	NM_001081.4(CUBN):c.10383C>T (p.Ser3461=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +3 more	GBenign/Likely 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 1918292	NM_001081.4(CUBN):c.10250A>G (p.Asn3417Ser)	CUBN (N3417S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GUncertain significance
Select item 3048520	NM_001081.4(CUBN):c.10180+6G>A	CUBN	Single nucleotide variant (intron variant)	CUBN-related disorder	GLikely benign
Select item 299367	NM_001081.4(CUBN):c.10119C>A (p.Val3373=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2155667	NM_001081.4(CUBN):c.10033-1G>A	CUBN	Single nucleotide variant (splice acceptor variant)	Imerslund-Grasbeck syndrome +1 more	GLikely pathogenic
Select item 695383	NM_001081.4(CUBN):c.10002G>C (p.Gln3334His)	CUBN (Q3334H)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 532212	NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu)	CUBN (S3329L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GBenign/Likely benign
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 599125	NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg)	CUBN (W3308R)	Single nucleotide variant (missense variant)	CUBN-related disorder +2 more	GConflicting classifications of pathogenicity
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 2199840	NM_001081.4(CUBN):c.9690G>A (p.Ala3230=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	GLikely benign
Select item 299375	NM_001081.4(CUBN):c.9664-9T>G	CUBN	Single nucleotide variant (intron variant)	CUBN-related disorder +2 more	GConflicting classifications of pathogenicity
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 1624877	NM_001081.4(CUBN):c.9315C>T (p.Ser3105=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +1 more	GLikely benign
Select item 289031	NM_001081.4(CUBN):c.9236+8A>G	CUBN	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2730303	NM_001081.4(CUBN):c.9229G>A (p.Glu3077Lys)	CUBN (E3077K)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GLikely benign
Select item 1646390	NM_001081.4(CUBN):c.9207C>T (p.Thr3069=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +1 more	GLikely benign
Select item 697026	NM_001081.4(CUBN):c.9207C>A (p.Thr3069=)	CUBN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 697027	NM_001081.4(CUBN):c.9206C>T (p.Thr3069Ile)	CUBN (T3069I)	Single nucleotide variant (missense variant)	CUBN-related disorder +1 more	GBenign
Select item 522508	NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg)	CUBN (G3027R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 501125	NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile)	CUBN (V2990I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2738408	NM_001081.4(CUBN):c.8937C>T (p.Asn2979=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +1 more	GLikely benign
Select item 439582	NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)	CUBN (F2965S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1133381	NM_001081.4(CUBN):c.8739C>T (p.Ser2913=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	GLikely benign
Select item 299396	NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile)	CUBN (V2901I)	Single nucleotide variant (missense variant)	CUBN-related disorder +3 more	GUncertain significance
Select item 299397	NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile)	CUBN (V2891I)	Single nucleotide variant (missense variant)	CUBN-related disorder +3 more	GBenign
Select item 299402	NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys)	CUBN (E2827K)	Single nucleotide variant (missense variant)	CUBN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 299403	NM_001081.4(CUBN):c.8412T>C (p.Gly2804=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2628983	NM_001081.4(CUBN):c.8355del (p.Asp2786fs)	CUBN (D2786fs)	Deletion (frameshift variant)	CUBN-related disorder	GPathogenic
Select item 2417574	NM_001081.4(CUBN):c.8279T>C (p.Ile2760Thr)	CUBN (I2760T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely 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 299410	NM_001081.4(CUBN):c.8139C>A (p.Thr2713=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +2 more	GBenign
Select item 1036062	NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala)	CUBN (V2659A)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 696925	NM_001081.4(CUBN):c.7971A>G (p.Pro2657=)	CUBN	Single nucleotide variant (synonymous variant)	Proteinuria, chronic benign +3 more	GLikely benign
Select item 878998	NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)	CUBN (I2613L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 3053969	NM_001081.4(CUBN):c.7489C>T (p.Leu2497=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign
Select item 299424	NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu)	CUBN (D2455E)	Single nucleotide variant (missense variant)	CUBN-related disorder +3 more	GBenign/Likely benign
Select item 463389	NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr)	CUBN (M2449T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 189227	NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)	CUBN (E2310fs)	Deletion (frameshift variant)	Imerslund-Grasbeck syndrome +4 more	GPathogenic
Select item 299433	NM_001081.4(CUBN):c.6924A>T (p.Ser2308=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +3 more	GBenign/Likely benign
Select item 644562	NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp)	CUBN (R2283W)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 2142928	NM_001081.4(CUBN):c.6822-1G>A	CUBN	Single nucleotide variant (splice acceptor variant)	Proteinuria, chronic benign +2 more	GLikely pathogenic
Select item 698278	NM_001081.4(CUBN):c.6822-6C>T	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2631798	NM_001081.4(CUBN):c.6772C>T (p.Arg2258Cys)	CUBN (R2258C)	Single nucleotide variant (missense variant)	CUBN-related disorder	GUncertain significance
Select item 1130023	NM_001081.4(CUBN):c.6630T>C (p.Tyr2210=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	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 299441	NM_001081.4(CUBN):c.6276C>T (p.Cys2092=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +3 more	GBenign/Likely 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 1353782	NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys)	CUBN (S2087C)	Single nucleotide variant (missense variant)	CUBN-related disorder +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 532209	NM_001081.4(CUBN):c.6142C>G (p.Gln2048Glu)	CUBN (Q2048E)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GLikely benign
Select item 392184	NM_001081.4(CUBN):c.6125-2A>G	CUBN	Single nucleotide variant (splice acceptor variant)	CUBN-related disorder +2 more	GUncertain significance
Select item 829936	NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)	CUBN (R2030*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2724896	NM_001081.4(CUBN):c.5985C>A (p.Gly1995=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	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 299449	NM_001081.4(CUBN):c.5926+5G>A	CUBN	Single nucleotide variant (intron variant)	CUBN-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 631629	NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)	CUBN (T1972fs)	Microsatellite (frameshift variant)	Imerslund-Grasbeck syndrome +2 more	GConflicting classifications of pathogenicity
Select item 299452	NM_001081.4(CUBN):c.5862G>A (p.Lys1954=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 698526	NM_001081.4(CUBN):c.5857G>C (p.Gly1953Arg)	CUBN (G1953R)	Single nucleotide variant (missense variant)	CUBN-related disorder +1 more	GLikely benign
Select item 1019224	NM_001081.4(CUBN):c.5851A>G (p.Ile1951Val)	CUBN (I1951V)	Single nucleotide variant (missense variant)	CUBN-related disorder +1 more	GUncertain significance
Select item 299454	NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr)	CUBN (S1947Y)	Single nucleotide variant (missense variant)	CUBN-related disorder +4 more	GConflicting classifications of pathogenicity
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 581662	NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)	CUBN (R1810*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1140545	NM_001081.4(CUBN):c.5424G>T (p.Val1808=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GLikely benign
Select item 1118009	NM_001081.4(CUBN):c.5223G>A (p.Thr1741=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	GLikely benign
Select item 698182	NM_001081.4(CUBN):c.5210-7C>G	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome +3 more	GBenign/Likely 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 695883	NM_001081.4(CUBN):c.5196C>T (p.Thr1732=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +2 more	GLikely benign
Select item 299474	NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)	CUBN (A1690V)	Single nucleotide variant (missense variant)	CUBN-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 695690	NM_001081.4(CUBN):c.5011A>C (p.Arg1671=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GBenign/Likely benign
Select item 546272	NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)	CUBN (L1557F)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +3 more	GConflicting classifications of pathogenicity
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 2181567	NM_001081.4(CUBN):c.4366G>A (p.Asp1456Asn)	CUBN (D1456N)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +2 more	GConflicting classifications of pathogenicity
Select item 800253	NM_001081.4(CUBN):c.4350+5G>A	CUBN	Single nucleotide variant (intron variant)	CUBN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 698722	NM_001081.4(CUBN):c.4212C>T (p.Ser1404=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +3 more	GBenign/Likely benign
Select item 695884	NM_001081.4(CUBN):c.4200C>T (p.Gly1400=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GBenign/Likely benign
Select item 299482	NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 877581	NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser)	CUBN (A1202S)	Single nucleotide variant (missense variant)	CUBN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 299487	NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr)	CUBN (A1202T)	Single nucleotide variant (missense variant)	CUBN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2077494	NM_001081.4(CUBN):c.3528C>T (p.Phe1176=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +1 more	GBenign/Likely 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 299493	NM_001081.4(CUBN):c.3252A>G (p.Gln1084=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +3 more	GConflicting classifications of pathogenicity
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 1665227	NM_001081.4(CUBN):c.2997A>G (p.Thr999=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +3 more	GLikely benign
Select item 878600	NM_001081.4(CUBN):c.2932C>A (p.His978Asn)	CUBN (H978N)	Single nucleotide variant (missense variant)	CUBN-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 299496	NM_001081.4(CUBN):c.2922C>T (p.Phe974=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder +4 more	GBenign/Likely benign
Select item 2634353	NM_001081.4(CUBN):c.2845C>T (p.Pro949Ser)	CUBN (P949S)	Single nucleotide variant (missense variant)	CUBN-related disorder +1 more	GUncertain significance
Select item 3036185	NM_001081.4(CUBN):c.2791+7G>A	CUBN	Single nucleotide variant (intron variant)	CUBN-related disorder	GLikely benign
Select item 1170341	NM_001081.4(CUBN):c.2677A>G (p.Thr893Ala)	CUBN (T893A)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +1 more	GBenign/Likely benign
Select item 879198	NM_001081.4(CUBN):c.2673C>T (p.Cys891=)	CUBN	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 299500	NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys)	CUBN (E886K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 299505	NM_001081.4(CUBN):c.2483G>A (p.Arg828His)	CUBN (R828H)	Single nucleotide variant (missense variant)	CUBN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3030826	NM_001081.4(CUBN):c.2447-5T>A	CUBN	Single nucleotide variant (intron 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 3032400	NM_001081.4(CUBN):c.2262G>A (p.Glu754=)	CUBN	Single nucleotide variant (synonymous variant)	CUBN-related disorder	GLikely benign

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