"Eurofins Ntd Llc (ga)"[submitter] AND "NOTCH2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 596950	NM_024408.4(NOTCH2):c.7416A>C (p.Ter2472Cys)	NOTCH2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 196924	NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 499063	NM_024408.4(NOTCH2):c.7368G>A (p.Gly2456=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 501321	NM_024408.4(NOTCH2):c.7356G>C (p.Gln2452His)	NOTCH2 (Q2452H)	Single nucleotide variant (missense variant)	not provided	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 261705	NM_024408.4(NOTCH2):c.7341T>A (p.Gly2447=)	NOTCH2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 594602	NM_024408.4(NOTCH2):c.7338G>A (p.Gly2446=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 594758	NM_024408.4(NOTCH2):c.7288C>T (p.Pro2430Ser)	NOTCH2 (P2430S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 289980	NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 500330	NM_024408.4(NOTCH2):c.7224C>G (p.Leu2408=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 134987	NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)	NOTCH2 (L2408H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 497629	NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln)	NOTCH2 (R2400Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502692	NM_024408.4(NOTCH2):c.7174T>C (p.Tyr2392His)	NOTCH2 (Y2392H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596091	NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=)	NOTCH2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 134983	NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala)	NOTCH2 (P2359A)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 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 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 196927	NM_024408.4(NOTCH2):c.6997G>A (p.Ala2333Thr)	NOTCH2 (A2333T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593210	NM_024408.4(NOTCH2):c.6985C>T (p.Pro2329Ser)	NOTCH2 (P2329S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 595865	NM_024408.4(NOTCH2):c.6962C>T (p.Ala2321Val)	NOTCH2 (A2321V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498688	NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196925	NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val)	NOTCH2 (A2319V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 594467	NM_024408.4(NOTCH2):c.6924G>A (p.Gln2308=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 287631	NM_024408.4(NOTCH2):c.6921C>T (p.Phe2307=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	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 499172	NM_024408.4(NOTCH2):c.6859A>T (p.Arg2287Trp)	NOTCH2 (R2287W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291244	NM_024408.4(NOTCH2):c.6837T>A (p.His2279Gln)	NOTCH2 (H2279Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501022	NM_024408.4(NOTCH2):c.6808A>G (p.Met2270Val)	NOTCH2 (M2270V)	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)	Congenital anomaly of kidney and urinary tract +3 more	GUncertain significance
Select item 196926	NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys)	NOTCH2 (R2256C)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 291032	NM_024408.4(NOTCH2):c.6703A>G (p.Ser2235Gly)	NOTCH2 (S2235G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594642	NM_024408.4(NOTCH2):c.6685C>T (p.His2229Tyr)	NOTCH2 (H2229Y)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 595794	NM_024408.4(NOTCH2):c.6673C>T (p.Leu2225=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
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 284332	NM_024408.4(NOTCH2):c.6496T>C (p.Ser2166Pro)	NOTCH2 (S2166P)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GConflicting classifications of pathogenicity
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 287036	NM_024408.4(NOTCH2):c.6479A>G (p.Tyr2160Cys)	NOTCH2 (Y2160C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 288692	NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 287235	NM_024408.4(NOTCH2):c.6464A>C (p.Glu2155Ala)	NOTCH2 (E2155A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597993	NM_024408.4(NOTCH2):c.6412A>G (p.Lys2138Glu)	NOTCH2 (K2138E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291023	NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)	NOTCH2 (K2121N)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GConflicting classifications of pathogenicity
Select item 282549	NM_024408.4(NOTCH2):c.6362A>G (p.Lys2121Arg)	NOTCH2 (K2121R)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GConflicting classifications of pathogenicity
Select item 595692	NM_024408.4(NOTCH2):c.6345C>T (p.Ser2115=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 595188	NM_024408.4(NOTCH2):c.6344G>A (p.Ser2115Asn)	NOTCH2 (S2115N)	Single nucleotide variant (missense variant)	not provided	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 595680	NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr)	NOTCH2 (S2103T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GConflicting classifications of pathogenicity
Select item 597758	NM_024408.4(NOTCH2):c.6270T>G (p.Ser2090=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 290966	NM_024408.4(NOTCH2):c.6251T>A (p.Ile2084Asn)	NOTCH2 (I2084N)	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)	Hajdu-Cheney syndrome +3 more	GBenign/Likely benign
Select item 598456	NM_024408.4(NOTCH2):c.6222C>T (p.Thr2074=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497770	NM_024408.4(NOTCH2):c.6182T>C (p.Leu2061Pro)	NOTCH2 (L2061P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283612	NM_024408.4(NOTCH2):c.6159C>T (p.Arg2053=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 595139	NM_024408.4(NOTCH2):c.6152G>C (p.Arg2051Pro)	NOTCH2 (R2051P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501328	NM_024408.4(NOTCH2):c.6152G>A (p.Arg2051Gln)	NOTCH2 (R2051Q)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GUncertain significance
Select item 597065	NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln)	NOTCH2 (R2047Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 593421	NM_024408.4(NOTCH2):c.6139C>G (p.Arg2047Gly)	NOTCH2 (R2047G)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 598432	NM_024408.4(NOTCH2):c.6124A>G (p.Met2042Val)	NOTCH2 (M2042V)	Single nucleotide variant (missense variant)	not provided	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 502696	NM_024408.4(NOTCH2):c.6104A>G (p.Asn2035Ser)	NOTCH2 (N2035S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 500159	NM_024408.4(NOTCH2):c.6103A>C (p.Asn2035His)	NOTCH2 (N2035H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286650	NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn)	NOTCH2 (H2032N)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +2 more	GBenign/Likely benign
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 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 594493	NM_024408.4(NOTCH2):c.6042G>C (p.Leu2014=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 288194	NM_024408.4(NOTCH2):c.6028-4G>A	NOTCH2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502600	NM_024408.4(NOTCH2):c.6027+10G>T	NOTCH2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 597845	NM_024408.4(NOTCH2):c.6027G>A (p.Lys2009=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 597811	NM_024408.4(NOTCH2):c.6026A>G (p.Lys2009Arg)	NOTCH2 (K2009R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 41266	NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter)	NOTCH2 (R2003*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 500633	NM_024408.4(NOTCH2):c.5959G>T (p.Val1987Phe)	NOTCH2 (V1987F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498173	NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 196792	NM_024408.4(NOTCH2):c.5871G>A (p.Glu1957=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 595365	NM_024408.4(NOTCH2):c.5862G>A (p.Leu1954=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 41264	NM_024408.4(NOTCH2):c.5858G>A (p.Arg1953His)	NOTCH2 (R1953H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 41263	NM_024408.4(NOTCH2):c.5857C>T (p.Arg1953Cys)	NOTCH2 (R1953C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593902	NM_024408.4(NOTCH2):c.5843del (p.Leu1948fs)	NOTCH2 (L1948fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 501855	NM_024408.4(NOTCH2):c.5834C>T (p.Thr1945Ile)	NOTCH2 (T1945I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499060	NM_024408.4(NOTCH2):c.5815G>T (p.Ala1939Ser)	NOTCH2 (A1939S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 594227	NM_024408.4(NOTCH2):c.5782-10C>T	NOTCH2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 289122	NM_024408.4(NOTCH2):c.5781+10A>C	NOTCH2	Single nucleotide variant (intron variant)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 595407	NM_024408.4(NOTCH2):c.5740C>T (p.Leu1914Phe)	NOTCH2 (L1914F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502328	NM_024408.4(NOTCH2):c.5732G>A (p.Arg1911His)	NOTCH2 (R1911H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 593268	NM_024408.4(NOTCH2):c.5664dup (p.Arg1889fs)	NOTCH2 (R1889fs)	Duplication (frameshift variant)	Hajdu-Cheney syndrome +1 more	GPathogenic
Select item 595891	NM_024408.4(NOTCH2):c.5630G>T (p.Gly1877Val)	NOTCH2 (G1877V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500794	NM_024408.4(NOTCH2):c.5480-7C>T	NOTCH2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 284210	NM_024408.4(NOTCH2):c.5413C>T (p.Leu1805=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 596976	NM_024408.4(NOTCH2):c.5407C>T (p.Pro1803Ser)	NOTCH2 (P1803S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597724	NM_024408.4(NOTCH2):c.5362C>G (p.Pro1788Ala)	NOTCH2 (P1788A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597984	NM_024408.4(NOTCH2):c.5348C>G (p.Pro1783Arg)	NOTCH2 (P1783R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290780	NM_024408.4(NOTCH2):c.5329C>T (p.Leu1777Phe)	NOTCH2 (L1777F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134980	NM_024408.4(NOTCH2):c.5314G>A (p.Glu1772Lys)	NOTCH2 (E1772K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598411	NM_024408.4(NOTCH2):c.5310+5G>A	NOTCH2	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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