NOTCH2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 151326	GRCh38/hg38 1p12(chr1:118752239-119977596)x3	ADAM30, HAO2 +42 more	Copy number gain	See cases	GLikely benign
Select item 155139	GRCh38/hg38 1p12(chr1:118933857-119977655)x1	ADAM30, HAO2 +38 more	Copy number loss	See cases	GUncertain significance
Select item 153442	GRCh38/hg38 1p12(chr1:119772887-120006962)x3	ADAM30, LOC111776218 +5 more	Copy number gain	See cases	GUncertain significance
Select item 154812	GRCh38/hg38 1p12(chr1:119780904-119977655)x3	ADAM30, LOC111776218 +4 more	Copy number gain	See cases	GUncertain significance
Select item 147485	GRCh38/hg38 1p12(chr1:119816901-119977655)x3	ADAM30, LOC111776218 +3 more	Copy number gain	See cases	GUncertain significance
Select item 3032797	NM_024408.4(NOTCH2):c.*9A>C	NOTCH2	Single nucleotide variant (3 prime UTR variant)	NOTCH2-related disorder	GLikely benign
Select item 596950	NM_024408.4(NOTCH2):c.7416A>C (p.Ter2472Cys)	NOTCH2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1927348	NM_024408.4(NOTCH2):c.7413G>C (p.Ala2471=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 196924	NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=)	NOTCH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3028996	NM_024408.4(NOTCH2):c.7412C>T (p.Ala2471Val)	NOTCH2 (A2471V)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 2118969	NM_024408.4(NOTCH2):c.7405G>A (p.Val2469Ile)	NOTCH2 (V2469I)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 1964735	NM_024408.4(NOTCH2):c.7402C>A (p.Gln2468Lys)	NOTCH2 (Q2468K)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 591347	NM_024408.4(NOTCH2):c.7391ACA[2] (p.Asn2466del)	NOTCH2 (N2466del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3007567	NM_024408.4(NOTCH2):c.7390C>G (p.His2464Asp)	NOTCH2 (H2464D)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2746569	NM_024408.4(NOTCH2):c.7390C>T (p.His2464Tyr)	NOTCH2 (H2464Y)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2860093	NM_024408.4(NOTCH2):c.7389A>G (p.Pro2463=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
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 2783128	NM_024408.4(NOTCH2):c.7376T>C (p.Met2459Thr)	NOTCH2 (M2459T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2102486	NM_024408.4(NOTCH2):c.7368G>C (p.Gly2456=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
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 2897386	NM_024408.4(NOTCH2):c.7364C>T (p.Pro2455Leu)	NOTCH2 (P2455L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 1477658	NM_024408.4(NOTCH2):c.7358G>A (p.Arg2453Gln)	NOTCH2 (R2453Q)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 1383618	NM_024408.4(NOTCH2):c.7356G>T (p.Gln2452His)	NOTCH2 (Q2452H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
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 2894175	NM_024408.4(NOTCH2):c.7353T>A (p.Gly2451=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2015217	NM_024408.4(NOTCH2):c.7353T>C (p.Gly2451=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 595622	NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser)	NOTCH2 (A2448S)	Single nucleotide variant (missense variant)	not provided +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 2068546	NM_024408.4(NOTCH2):c.7338G>T (p.Gly2446=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder +1 more	GLikely benign
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 2880131	NM_024408.4(NOTCH2):c.7337G>A (p.Gly2446Glu)	NOTCH2 (G2446E)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 1424925	NM_024408.4(NOTCH2):c.7336G>C (p.Gly2446Arg)	NOTCH2 (G2446R)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
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 2050630	NM_024408.4(NOTCH2):c.7323C>A (p.Thr2441=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2854430	NM_024408.4(NOTCH2):c.7318A>G (p.Thr2440Ala)	NOTCH2 (T2440A)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2001133	NM_024408.4(NOTCH2):c.7317G>T (p.Val2439=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2862885	NM_024408.4(NOTCH2):c.7301C>A (p.Ser2434Tyr)	NOTCH2 (S2434Y)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 594758	NM_024408.4(NOTCH2):c.7288C>T (p.Pro2430Ser)	NOTCH2 (P2430S)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 950930	NM_024408.4(NOTCH2):c.7280G>C (p.Ser2427Thr)	NOTCH2 (S2427T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 1930385	NM_024408.4(NOTCH2):c.7269C>A (p.Asp2423Glu)	NOTCH2 (D2423E)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2827356	NM_024408.4(NOTCH2):c.7265C>T (p.Pro2422Leu)	NOTCH2 (P2422L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 289980	NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2917421	NM_024408.4(NOTCH2):c.7224C>T (p.Leu2408=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
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)	Hajdu-Cheney syndrome +5 more	GBenign/Likely benign
Select item 2061656	NM_024408.4(NOTCH2):c.7218T>C (p.Gly2406=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 1998023	NM_024408.4(NOTCH2):c.7217G>T (p.Gly2406Val)	NOTCH2 (G2406V)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 134986	NM_024408.4(NOTCH2):c.7209T>A (p.Ser2403Arg)	NOTCH2 (S2403R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2754391	NM_024408.4(NOTCH2):c.7206C>G (p.Pro2402=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2662993	NM_024408.4(NOTCH2):c.7205C>G (p.Pro2402Arg)	NOTCH2 (P2402R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497629	NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln)	NOTCH2 (R2400Q)	Single nucleotide variant (missense variant)	NOTCH2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 518450	NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter)	NOTCH2 (R2400*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1985533	NM_024408.4(NOTCH2):c.7197G>A (p.Glu2399=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2579346	NM_024408.4(NOTCH2):c.7195G>A (p.Glu2399Lys)	NOTCH2 (E2399K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134984	NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly)	NOTCH2 (A2397G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GUncertain significance
Select item 2048092	NM_024408.4(NOTCH2):c.7176T>C (p.Tyr2392=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
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 30061	NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter)	NOTCH2 (Q2389*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome	GPathogenic
Select item 2096763	NM_024408.4(NOTCH2):c.7159C>A (p.Pro2387Thr)	NOTCH2 (P2387T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 1616924	NM_024408.4(NOTCH2):c.7146G>A (p.Lys2382=)	NOTCH2	Single nucleotide variant (synonymous variant)	NOTCH2-related disorder +1 more	GLikely benign
Select item 1574670	NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GLikely benign
Select item 2197663	NM_024408.4(NOTCH2):c.7136C>T (p.Ser2379Phe)	NOTCH2 (S2379F)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 1953787	NM_024408.4(NOTCH2):c.7130C>T (p.Pro2377Leu)	NOTCH2 (P2377L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2050244	NM_024408.4(NOTCH2):c.7129C>A (p.Pro2377Thr)	NOTCH2 (P2377T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3030094	NM_024408.4(NOTCH2):c.7127T>C (p.Phe2376Ser)	NOTCH2 (F2376S)	Single nucleotide variant (missense variant)	NOTCH2-related disorder	GUncertain significance
Select item 2138836	NM_024408.4(NOTCH2):c.7126T>C (p.Phe2376Leu)	NOTCH2 (F2376L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2202321	NM_024408.4(NOTCH2):c.7125T>C (p.Pro2375=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2077985	NM_024408.4(NOTCH2):c.7125T>G (p.Pro2375=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 2639040	NM_024408.4(NOTCH2):c.7120C>G (p.His2374Asp)	NOTCH2 (H2374D)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +1 more	GUncertain significance
Select item 30058	NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter)	NOTCH2 (Y2373*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome	GPathogenic
Select item 2185132	NM_024408.4(NOTCH2):c.7114G>A (p.Ala2372Thr)	NOTCH2 (A2372T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2768810	NM_024408.4(NOTCH2):c.7112C>T (p.Pro2371Leu)	NOTCH2 (P2371L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2801264	NM_024408.4(NOTCH2):c.7108C>G (p.Leu2370Val)	NOTCH2 (L2370V)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2127842	NM_024408.4(NOTCH2):c.7099C>T (p.Gln2367Ter)	NOTCH2 (Q2367*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome	GPathogenic
Select item 2130647	NM_024408.4(NOTCH2):c.7097C>T (p.Ala2366Val)	NOTCH2 (A2366V)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3049088	NM_024408.4(NOTCH2):c.7090C>T (p.Gln2364Ter)	NOTCH2 (Q2364*)	Single nucleotide variant (nonsense)	NOTCH2-related disorder	GLikely pathogenic
Select item 973762	NM_024408.4(NOTCH2):c.7090del (p.Gln2364fs)	NOTCH2 (Q2364fs)	Deletion (frameshift variant)	Hajdu-Cheney syndrome	GPathogenic
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 518449	NM_024408.4(NOTCH2):c.7078C>T (p.Gln2360Ter)	NOTCH2 (Q2360*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome	GPathogenic
Select item 2911023	NM_024408.4(NOTCH2):c.7077C>T (p.Pro2359=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign
Select item 134983	NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala)	NOTCH2 (P2359A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2745890	NM_024408.4(NOTCH2):c.7074G>T (p.Met2358Ile)	NOTCH2 (M2358I)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
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 1913961	NM_024408.4(NOTCH2):c.7070T>C (p.Met2357Thr)	NOTCH2 (M2357T)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2118959	NM_024408.4(NOTCH2):c.7069A>G (p.Met2357Val)	NOTCH2 (M2357V)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 3001070	NM_024408.4(NOTCH2):c.7057T>C (p.Phe2353Leu)	NOTCH2 (F2353L)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 1967066	NM_024408.4(NOTCH2):c.7055C>T (p.Ala2352Val)	NOTCH2 (A2352V)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 2581458	NM_024408.4(NOTCH2):c.7046C>T (p.Pro2349Leu)	NOTCH2 (P2349L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 290772	NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=)	NOTCH2	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a NOTCH2 point mutation +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 2723840	NM_024408.4(NOTCH2):c.7039C>T (p.Arg2347Cys)	NOTCH2 (R2347C)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 1561094	NM_024408.4(NOTCH2):c.7038C>G (p.Ala2346=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome +1 more	GLikely benign
Select item 2322685	NM_024408.4(NOTCH2):c.7036G>A (p.Ala2346Thr)	NOTCH2 (A2346T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2877291	NM_024408.4(NOTCH2):c.7030G>A (p.Glu2344Lys)	NOTCH2 (E2344K)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome	GUncertain significance
Select item 1992457	NM_024408.4(NOTCH2):c.7030G>T (p.Glu2344Ter)	NOTCH2 (E2344*)	Single nucleotide variant (nonsense)	Hajdu-Cheney syndrome	GPathogenic
Select item 2578107	NM_024408.4(NOTCH2):c.7021C>T (p.Gln2341Ter)	NOTCH2 (Q2341*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1561865	NM_024408.4(NOTCH2):c.7002C>T (p.Gly2334=)	NOTCH2	Single nucleotide variant (synonymous variant)	Hajdu-Cheney syndrome	GLikely benign

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