ClinVar for MedGen (Select 341844) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062308	NM_024408.4(NOTCH2):c.6139del (p.Arg2047fs)	NOTCH2 (R2047fs)	Deletion (frameshift variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GLikely pathogenic
Select item 2664920	NM_024408.4(NOTCH2):c.3302C>T (p.Pro1101Leu)	NOTCH2 (P1101L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GUncertain significance
Select item 2582733	NM_024408.4(NOTCH2):c.4747T>C (p.Ser1583Pro)	NOTCH2 (S1583P)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GUncertain significance
Select item 2582390	NM_024408.4(NOTCH2):c.1492T>C (p.Cys498Arg)	NOTCH2 (C498R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GLikely pathogenic
Select item 2581163	NM_024408.4(NOTCH2):c.6028-5T>A	NOTCH2	Single nucleotide variant (intron variant)	Alagille syndrome due to a NOTCH2 point mutation	GLikely pathogenic
Select item 2580974	NM_024408.4(NOTCH2):c.2896G>C (p.Asp966His)	NOTCH2 (D966H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GUncertain significance
Select item 1805691	NM_024408.4(NOTCH2):c.4593dup (p.Leu1532fs)	NOTCH2 (L1532fs)	Duplication (frameshift variant)	Alagille syndrome due to a NOTCH2 point mutation	GPathogenic
Select item 1805576	NM_024408.4(NOTCH2):c.3661C>A (p.Leu1221Ile)	NOTCH2 (L1221I)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GUncertain significance
Select item 1709409	NM_024408.4(NOTCH2):c.3301C>T (p.Pro1101Ser)	NOTCH2 (P1101S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GUncertain significance
Select item 1703257	NM_024408.4(NOTCH2):c.5930-2A>G	NOTCH2	Single nucleotide variant (splice acceptor variant)	Alagille syndrome due to a NOTCH2 point mutation	GPathogenic
Select item 1699130	NM_024408.4(NOTCH2):c.2365G>A (p.Gly789Ser)	NOTCH2 (G789S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GUncertain significance
Select item 1699062	NM_024408.4(NOTCH2):c.4019C>T (p.Ala1340Val)	NOTCH2 (A1340V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	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 1693990	NM_024408.4(NOTCH2):c.2642C>T (p.Pro881Leu)	NOTCH2 (P881L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +3 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 1631293	NM_024408.4(NOTCH2):c.1109-12A>C	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 1629266	NM_024408.4(NOTCH2):c.7326C>T (p.Ser2442=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GLikely benign
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 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 1596662	NM_024408.4(NOTCH2):c.4998C>T (p.Val1666=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related condition +2 more	GLikely benign
Select item 1590104	NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +2 more	GBenign/Likely benign
Select item 1588243	NM_024408.4(NOTCH2):c.5214-12T>C	NOTCH2	Single nucleotide variant (intron 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)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 1580348	NM_024408.4(NOTCH2):c.1803C>T (p.Gly601=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related condition +2 more	GLikely benign
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 1574670	NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related condition +2 more	GLikely benign
Select item 1565970	NM_024408.4(NOTCH2):c.3523-15_3523-13del	NOTCH2	Deletion (intron variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 1564834	NM_024408.4(NOTCH2):c.3462G>A (p.Ala1154=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
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 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 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 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 1490219	NM_024408.4(NOTCH2):c.6055C>G (p.Arg2019Gly)	NOTCH2 (R2019G)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
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 1485372	NM_024408.4(NOTCH2):c.881T>A (p.Phe294Tyr)	NOTCH2 (F294Y)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1463178	NM_024408.4(NOTCH2):c.2142C>G (p.His714Gln)	NOTCH2 (H714Q)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 1460637	NM_024408.4(NOTCH2):c.2699C>T (p.Pro900Leu)	NOTCH2 (P900L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1449908	NM_024408.4(NOTCH2):c.2501T>G (p.Leu834Trp)	NOTCH2 (L834W)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1449537	NM_024408.4(NOTCH2):c.3298G>A (p.Val1100Met)	NOTCH2 (V1100M)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1440665	NM_024408.4(NOTCH2):c.6878A>C (p.His2293Pro)	NOTCH2 (H2293P)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
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 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 1436118	NM_024408.4(NOTCH2):c.6911T>C (p.Ile2304Thr)	NOTCH2 (I2304T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 1431081	NM_024408.4(NOTCH2):c.2239G>A (p.Ala747Thr)	NOTCH2 (A747T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1430909	NM_024408.4(NOTCH2):c.4922A>C (p.Lys1641Thr)	NOTCH2 (K1641T)	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 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 1397141	NM_024408.4(NOTCH2):c.2440A>G (p.Ile814Val)	NOTCH2 (I814V)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 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 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 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 1371402	NM_024408.4(NOTCH2):c.7377G>A (p.Met2459Ile)	NOTCH2 (M2459I)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1359168	NM_024408.4(NOTCH2):c.5423C>T (p.Thr1808Ile)	NOTCH2 (T1808I)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 1355144	NM_024408.4(NOTCH2):c.6868G>A (p.Glu2290Lys)	NOTCH2 (E2290K)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1353734	NM_024408.4(NOTCH2):c.7016T>C (p.Met2339Thr)	NOTCH2 (M2339T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1329467	NM_024408.4(NOTCH2):c.6586C>T (p.Gln2196Ter)	NOTCH2 (Q2196*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GLikely pathogenic
Select item 1310937	NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln)	NOTCH2 (R1875Q)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GConflicting classifications of pathogenicity
Select item 1301776	NM_024408.4(NOTCH2):c.8C>T (p.Ala3Val)	NOTCH2 (A3V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GLikely benign
Select item 1293670	NM_024408.4(NOTCH2):c.2753-44C>T	NOTCH2	Single nucleotide variant (intron variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GBenign
Select item 1283582	NM_024408.4(NOTCH2):c.1108+30A>G	NOTCH2	Single nucleotide variant (intron variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GBenign
Select item 1262351	NM_024408.4(NOTCH2):c.2981+11A>G	NOTCH2	Single nucleotide variant (intron variant)	Alagille syndrome due to a NOTCH2 point mutation +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 1239185	NM_024408.4(NOTCH2):c.1108+14G>A	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)	Hajdu-Cheney syndrome +2 more	GBenign/Likely benign
Select item 1199418	NM_024408.4(NOTCH2):c.853C>T (p.Arg285Cys)	NOTCH2 (R285C)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 1176201	NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +3 more	GLikely benign
Select item 1174922	NM_024408.4(NOTCH2):c.15C>T (p.Arg5=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GBenign
Select item 1044085	NM_024408.4(NOTCH2):c.6313C>T (p.Arg2105Trp)	NOTCH2 (R2105W)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 1034043	NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala)	NOTCH2 (G240A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 1034042	NM_024408.4(NOTCH2):c.2587C>T (p.Pro863Ser)	NOTCH2 (P863S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GLikely pathogenic
Select item 1028814	NM_024408.4(NOTCH2):c.686C>A (p.Pro229His)	NOTCH2 (P229H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 1028813	NM_024408.4(NOTCH2):c.6325A>G (p.Lys2109Glu)	NOTCH2 (K2109E)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	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 1017215	NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg)	NOTCH2 (G929R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 1012187	NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr)	NOTCH2 (M2042T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GPathogenic
Select item 989251	NM_024408.4(NOTCH2):c.836T>G (p.Val279Gly)	NOTCH2 (V279G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GUncertain significance
Select item 970952	NM_024408.4(NOTCH2):c.3406C>G (p.Gln1136Glu)	NOTCH2 (Q1136E)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GConflicting classifications of pathogenicity
Select item 957268	NM_024408.4(NOTCH2):c.1978A>G (p.Met660Val)	NOTCH2 (M660V)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 952730	NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His)	NOTCH2 (R1895H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 931169	NM_024408.4(NOTCH2):c.5327T>C (p.Leu1776Ser)	NOTCH2 (L1776S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GUncertain significance
Select item 829922	NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys)	NOTCH2 (R2060C)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 829914	NM_024408.4(NOTCH2):c.5132T>C (p.Leu1711Pro)	NOTCH2 (L1711P)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GUncertain significance
Select item 812146	NM_024408.4(NOTCH2):c.4647T>G (p.Ile1549Met)	NOTCH2 (I1549M)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 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 801539	NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter)	NOTCH2 (R29*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 759239	NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related condition +2 more	GLikely benign
Select item 684619	NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr)	NOTCH2 (H1882Y)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GPathogenic
Select item 684618	NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu)	NOTCH2 (S1741L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation	GPathogenic
Select item 635423	NM_024408.4(NOTCH2):c.6460del (p.Ser2153_Leu2154insTer)	NOTCH2	Deletion (nonsense)	Alagille syndrome due to a NOTCH2 point mutation	GLikely pathogenic
Select item 599225	NM_024408.4(NOTCH2):c.5431C>T (p.Gln1811Ter)	NOTCH2 (Q1811*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a NOTCH2 point mutation	GLikely pathogenic
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 +3 more	GUncertain significance
Select item 598276	NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=)	NOTCH2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 598183	NM_024408.4(NOTCH2):c.6481G>A (p.Val2161Ile)	NOTCH2 (V2161I)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GUncertain significance
Select item 597664	NM_024408.4(NOTCH2):c.3916G>A (p.Asp1306Asn)	NOTCH2 (D1306N)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 597266	NM_024408.4(NOTCH2):c.6004A>G (p.Asn2002Asp)	NOTCH2 (N2002D)	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)	VATER association +3 more	GUncertain significance
Select item 596091	NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +3 more	GBenign/Likely benign
Select item 595897	NM_024408.4(NOTCH2):c.815G>A (p.Gly272Glu)	NOTCH2 (G272E)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 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 595622	NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser)	NOTCH2 (A2448S)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +3 more	GConflicting classifications of pathogenicity

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