"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NOTCH2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1371402	NM_024408.4(NOTCH2):c.7377G>A (p.Met2459Ile)	NOTCH2 (M2459I)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 595622	NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser)	NOTCH2 (A2448S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +3 more	GConflicting classifications of pathogenicity
Select item 1629266	NM_024408.4(NOTCH2):c.7326C>T (p.Ser2442=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 134987	NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)	NOTCH2 (L2408H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +4 more	GBenign/Likely benign
Select item 134984	NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly)	NOTCH2 (A2397G)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 1574670	NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 596091	NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +3 more	GBenign/Likely benign
Select item 593802	NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val)	NOTCH2 (M2358V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 290772	NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=)	NOTCH2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1405698	NM_024408.4(NOTCH2):c.7040G>A (p.Arg2347His)	NOTCH2 (R2347H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 1353734	NM_024408.4(NOTCH2):c.7016T>C (p.Met2339Thr)	NOTCH2 (M2339T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 290972	NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GConflicting classifications of pathogenicity
Select item 463177	NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro)	NOTCH2 (A2333P)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GLikely benign
Select item 134982	NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala)	NOTCH2 (T2327A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GConflicting classifications of pathogenicity
Select item 1436118	NM_024408.4(NOTCH2):c.6911T>C (p.Ile2304Thr)	NOTCH2 (I2304T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1518082	NM_024408.4(NOTCH2):c.6904C>G (p.Pro2302Ala)	NOTCH2 (P2302A)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 291198	NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln)	NOTCH2 (R2298Q)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1440665	NM_024408.4(NOTCH2):c.6878A>C (p.His2293Pro)	NOTCH2 (H2293P)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1355144	NM_024408.4(NOTCH2):c.6868G>A (p.Glu2290Lys)	NOTCH2 (E2290K)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 499864	NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His)	NOTCH2 (R2256H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1695778	NM_024408.4(NOTCH2):c.6618A>C (p.Glu2206Asp)	NOTCH2 (E2206D)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 594888	NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr)	NOTCH2 (A2188T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 595364	NM_024408.4(NOTCH2):c.6547A>G (p.Met2183Val)	NOTCH2 (M2183V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 598276	NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +2 more	GBenign/Likely benign
Select item 499623	NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +2 more	GBenign/Likely benign
Select item 598183	NM_024408.4(NOTCH2):c.6481G>A (p.Val2161Ile)	NOTCH2 (V2161I)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 501463	NM_024408.4(NOTCH2):c.6338C>T (p.Pro2113Leu)	NOTCH2 (P2113L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +3 more	GUncertain significance
Select item 1044085	NM_024408.4(NOTCH2):c.6313C>T (p.Arg2105Trp)	NOTCH2 (R2105W)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 134985	NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met)	NOTCH2 (V2075M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 829922	NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys)	NOTCH2 (R2060C)	Single nucleotide variant (missense variant)	NOTCH2-related disorder +2 more	GUncertain significance
Select item 289384	NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn)	NOTCH2 (D2040N)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 520581	NM_024408.4(NOTCH2):c.6079A>G (p.Lys2027Glu)	NOTCH2 (K2027E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 196923	NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln)	NOTCH2 (R2019Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1490219	NM_024408.4(NOTCH2):c.6055C>G (p.Arg2019Gly)	NOTCH2 (R2019G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 289806	NM_024408.4(NOTCH2):c.6052G>T (p.Ala2018Ser)	NOTCH2 (A2018S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 1372284	NM_024408.4(NOTCH2):c.6008G>A (p.Arg2003Gln)	NOTCH2 (R2003Q)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 597266	NM_024408.4(NOTCH2):c.6004A>G (p.Asn2002Asp)	NOTCH2 (N2002D)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +3 more	GUncertain significance
Select item 286430	NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala)	NOTCH2 (T1993A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 952730	NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His)	NOTCH2 (R1895H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GConflicting classifications of pathogenicity
Select item 1438596	NM_024408.4(NOTCH2):c.5540AAGATG[1] (p.1847ED[1])	NOTCH2	Microsatellite (inframe_deletion)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 1359168	NM_024408.4(NOTCH2):c.5423C>T (p.Thr1808Ile)	NOTCH2 (T1808I)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 1523901	NM_024408.4(NOTCH2):c.5398C>T (p.Arg1800Cys)	NOTCH2 (R1800C)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1590104	NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GBenign/Likely benign
Select item 1588243	NM_024408.4(NOTCH2):c.5214-12T>C	NOTCH2	Single nucleotide variant (intron variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GLikely benign
Select item 501462	NM_024408.4(NOTCH2):c.5156G>A (p.Arg1719Gln)	NOTCH2 (R1719Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1028811	NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His)	NOTCH2 (Q1677H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 134977	NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile)	NOTCH2 (V1667I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1596662	NM_024408.4(NOTCH2):c.4998C>T (p.Val1666=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 1430909	NM_024408.4(NOTCH2):c.4922A>C (p.Lys1641Thr)	NOTCH2 (K1641T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 598586	NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His)	NOTCH2 (R1578H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 806200	NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg)	NOTCH2 (S1564R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1663258	NM_024408.4(NOTCH2):c.4665T>C (p.Pro1555=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 289193	NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser)	NOTCH2 (N1465S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 286546	NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +3 more	GBenign/Likely benign
Select item 1437501	NM_024408.4(NOTCH2):c.4270A>G (p.Thr1424Ala)	NOTCH2 (T1424A)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 1513963	NM_024408.4(NOTCH2):c.4229G>A (p.Arg1410His)	NOTCH2 (R1410H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 593827	NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg)	NOTCH2 (H1390R)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +3 more	GUncertain significance
Select item 134974	NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp)	NOTCH2 (R1372W)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 134973	NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His)	NOTCH2 (R1332H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 597664	NM_024408.4(NOTCH2):c.3916G>A (p.Asp1306Asn)	NOTCH2 (D1306N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1579947	NM_024408.4(NOTCH2):c.3912C>T (p.Phe1304=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GLikely benign
Select item 502271	NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser)	NOTCH2 (T1303S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 502782	NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His)	NOTCH2 (R1293H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 1430584	NM_024408.4(NOTCH2):c.3701A>G (p.His1234Arg)	NOTCH2 (H1234R)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 134970	NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr)	NOTCH2 (H1234Y)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 289229	NM_024408.4(NOTCH2):c.3670G>A (p.Glu1224Lys)	NOTCH2 (E1224K)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 596711	NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn)	NOTCH2 (Y1186N)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +3 more	GUncertain significance
Select item 1565970	NM_024408.4(NOTCH2):c.3523-15_3523-13del	NOTCH2	Deletion (intron variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GLikely benign
Select item 595426	NM_024408.4(NOTCH2):c.3467A>G (p.Asn1156Ser)	NOTCH2 (N1156S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +3 more	GUncertain significance
Select item 1564834	NM_024408.4(NOTCH2):c.3462G>A (p.Ala1154=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GLikely benign
Select item 1488275	NM_024408.4(NOTCH2):c.3430A>G (p.Ser1144Gly)	NOTCH2 (S1144G)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 134966	NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser)	NOTCH2 (G1130S)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 284952	NM_024408.4(NOTCH2):c.3305A>G (p.Asn1102Ser)	NOTCH2 (N1102S)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 1449537	NM_024408.4(NOTCH2):c.3298G>A (p.Val1100Met)	NOTCH2 (V1100M)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 134965	NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)	NOTCH2 (R1069Q)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GConflicting classifications of pathogenicity
Select item 501164	NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr)	NOTCH2 (P1052T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +3 more	GUncertain significance
Select item 194987	NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser)	NOTCH2 (G1016S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1262351	NM_024408.4(NOTCH2):c.2981+11A>G	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome +2 more	GBenign/Likely benign
Select item 1374353	NM_024408.4(NOTCH2):c.2948A>G (p.His983Arg)	NOTCH2 (H983R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1017215	NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg)	NOTCH2 (G929R)	Single nucleotide variant (missense variant)	NOTCH2-related disorder +3 more	GUncertain significance
Select item 1598592	NM_024408.4(NOTCH2):c.2752+17G>C	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome +1 more	GBenign/Likely benign
Select item 1460637	NM_024408.4(NOTCH2):c.2699C>T (p.Pro900Leu)	NOTCH2 (P900L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 595624	NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser)	NOTCH2 (G893S)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1386470	NM_024408.4(NOTCH2):c.2647A>G (p.Met883Val)	NOTCH2 (M883V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1693990	NM_024408.4(NOTCH2):c.2642C>T (p.Pro881Leu)	NOTCH2 (P881L)	Single nucleotide variant (missense variant)	NOTCH2-related disorder +3 more	GUncertain significance
Select item 502698	NM_024408.4(NOTCH2):c.2584G>T (p.Ala862Ser)	NOTCH2 (A862S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 1449908	NM_024408.4(NOTCH2):c.2501T>G (p.Leu834Trp)	NOTCH2 (L834W)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 1600586	NM_024408.4(NOTCH2):c.2480-4C>G	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome +1 more	GBenign/Likely benign
Select item 1518071	NM_024408.4(NOTCH2):c.2381T>C (p.Val794Ala)	NOTCH2 (V794A)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 759239	NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GLikely benign
Select item 1431081	NM_024408.4(NOTCH2):c.2239G>A (p.Ala747Thr)	NOTCH2 (A747T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 1463178	NM_024408.4(NOTCH2):c.2142C>G (p.His714Gln)	NOTCH2 (H714Q)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 497630	NM_024408.4(NOTCH2):c.2026+6G>T	NOTCH2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 957268	NM_024408.4(NOTCH2):c.1978A>G (p.Met660Val)	NOTCH2 (M660V)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 1580348	NM_024408.4(NOTCH2):c.1803C>T (p.Gly601=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GLikely benign
Select item 282715	NM_024408.4(NOTCH2):c.1681+9C>A	NOTCH2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1239348	NM_024408.4(NOTCH2):c.1568-17C>T	NOTCH2	Single nucleotide variant (intron variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GBenign/Likely benign
Select item 1232150	NM_024408.4(NOTCH2):c.1567+12C>T	NOTCH2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 463171	NM_024408.4(NOTCH2):c.1248G>A (p.Val416=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 1582799	NM_024408.4(NOTCH2):c.1158G>A (p.Lys386=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GLikely benign

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