C4016819[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 939620	NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln)	CUBN (R3618Q)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
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
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 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 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 877271	NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser)	CUBN (G3526S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
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 299361	NM_001081.4(CUBN):c.10363-3A>G	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
Select item 532200	NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn)	CUBN (D3451N)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +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 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 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 299368	NM_001081.4(CUBN):c.10102A>G (p.Met3368Val)	CUBN (M3368V)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GUncertain significance
Select item 299369	NM_001081.4(CUBN):c.10077G>C (p.Ser3359=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GConflicting classifications of pathogenicity
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 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 599125	NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg)	CUBN (W3308R)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +1 more	GUncertain significance
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 695872	NM_001081.4(CUBN):c.9705G>A (p.Thr3235=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +3 more	GLikely benign
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 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 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 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 850065	NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val)	CUBN (I3047V)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	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 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 880163	NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)	CUBN (S2964C)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GUncertain significance
Select item 299394	NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser)	CUBN (N2942S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
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 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 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 299398	NM_001081.4(CUBN):c.8656G>A (p.Val2886Met)	CUBN (V2886M)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	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 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 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 1622542	NM_001081.4(CUBN):c.8410+18T>C	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome +2 more	GLikely benign
Select item 878408	NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu)	CUBN (P2758L)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +1 more	GUncertain significance
Select item 299407	NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn)	CUBN (T2741N)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +1 more	GUncertain significance
Select item 836690	NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala)	CUBN (D2735A)	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 648044	NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg)	CUBN (G2691R)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +3 more	GUncertain significance
Select item 1002884	NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu)	CUBN (F2686L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	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 1021114	NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu)	CUBN (Q2664E)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 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 696925	NM_001081.4(CUBN):c.7971A>G (p.Pro2657=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome +2 more	GLikely benign
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 1631641	NM_001081.4(CUBN):c.7533+17G>A	CUBN	Single nucleotide variant (intron variant)	Imerslund-Grasbeck syndrome +2 more	GLikely benign
Select item 699694	NM_001081.4(CUBN):c.7491G>A (p.Leu2497=)	CUBN	Single nucleotide variant (synonymous variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GLikely benign
Select item 1014319	NM_001081.4(CUBN):c.7434C>T (p.Cys2478=)	CUBN	Single nucleotide variant (synonymous variant)	Proteinuria, chronic benign +2 more	GConflicting classifications of pathogenicity
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 656522	NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys)	CUBN (Y2468C)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +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 947587	NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val)	CUBN (I2460V)	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 664524	NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln)	CUBN (R2444Q)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	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 936927	NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)	CUBN (W2365*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome type 1 +2 more	GPathogenic/Likely pathogenic
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 878461	NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile)	CUBN (S2321I)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +1 more	GUncertain significance
Select item 189227	NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)	CUBN (E2310fs)	Deletion (frameshift variant)	Chronic kidney disease +4 more	GPathogenic
Select item 644562	NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp)	CUBN (R2283W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 660857	NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser)	CUBN (N2278S)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +2 more	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 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 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 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 532204	NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile)	CUBN (V2221I)	Single nucleotide variant (missense variant)	not provided +3 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 800746	NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)	CUBN (S2187L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 439585	NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly)	CUBN (D2160G)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
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 299440	NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser)	CUBN (G2093S)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +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 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 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 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 829936	NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)	CUBN (R2030*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome +3 more	GPathogenic/Likely pathogenic
Select item 699668	NM_001081.4(CUBN):c.6039C>T (p.Pro2013=)	CUBN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 572770	NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met)	CUBN (T2007M)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome +4 more	GConflicting classifications of pathogenicity
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 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 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 993928	NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val)	CUBN (D1986V)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +3 more	GUncertain significance
Select item 877486	NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val)	CUBN (I1973V)	Single nucleotide variant (missense variant)	Proteinuria, chronic benign +1 more	GUncertain significance
Select item 299451	NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr)	CUBN (P1971T)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +3 more	GBenign/Likely benign
Select item 696243	NM_001081.4(CUBN):c.5841C>T (p.Ser1947=)	CUBN	Single nucleotide variant (synonymous variant)	Proteinuria, chronic benign +2 more	GLikely benign
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 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 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 532202	NM_001081.4(CUBN):c.5580T>A (p.His1860Gln)	CUBN (H1860Q)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
Select item 940719	NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu)	CUBN (I1850L)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
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 879096	NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val)	CUBN (I1823V)	Single nucleotide variant (missense variant)	Imerslund-Grasbeck syndrome type 1 +2 more	GUncertain significance
Select item 581662	NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)	CUBN (R1810*)	Single nucleotide variant (nonsense)	not provided +3 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 +2 more	GLikely benign
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

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