"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NOTCH1"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134945	NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val)	NOTCH1 (I2550V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 508344	NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=)	NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +3 more	GLikely benign
Select item 264349	NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala)	NOTCH1 (T2455A)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 409081	NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met)	NOTCH1 (V2249M)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 264003	NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)	NOTCH1 (K2174R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 449324	NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)	NOTCH1 (P2161S)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 1415264	NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln)	NOTCH1 (R2087Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 222758	NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)	NOTCH1 (A2069T)	Single nucleotide variant (missense variant)	Marfan syndrome +5 more	GConflicting classifications of pathogenicity
Select item 409043	NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn)	LOC126860794, NOTCH1 (D2020N)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 1203994	NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=)	NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +3 more	GBenign/Likely benign
Select item 241155	NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=)	NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +4 more	GBenign
Select item 1367026	NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn)	NOTCH1 (D1808N)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 582629	NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val)	NOTCH1 (M1806V)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 409080	NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu)	NOTCH1 (P1730L)	Single nucleotide variant (missense variant)	NOTCH1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 241147	NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)	NOTCH1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign/Likely benign OLikely benign
Select item 392691	NM_017617.5(NOTCH1):c.5018+13C>T	NOTCH1	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 5 +3 more	GBenign/Likely benign
Select item 134940	NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)	NOTCH1 (V1671I)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 477936	NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln)	NOTCH1 (R1663Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 263870	NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 580837	NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met)	NOTCH1 (V1599M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 415399	NM_017617.5(NOTCH1):c.4586+10C>T	NOTCH1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 856242	NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His)	NOTCH1 (R1523H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 409060	NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met)	NOTCH1 (T1491M)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 1059669	NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val)	NOTCH1 (A1458V)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 409054	NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His)	NOTCH1 (R1438H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 264469	NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His)	NOTCH1 (R1413H)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 134934	NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)	NOTCH1 (P1377S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 513558	NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 1429011	NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp)	NOTCH1 (G1353D)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +1 more	GConflicting classifications of pathogenicity
Select item 1429202	NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys)	NOTCH1 (R1330C)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 636452	NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)	NOTCH1 (V1324L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1025041	NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His)	NOTCH1 (R1302H)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 134930	NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)	NOTCH1 (R1279H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 544191	NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His)	NOTCH1 (R1263H)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 477917	NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)	NOTCH1 (V1222M)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 264061	NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser)	NOTCH1 (T1213S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GUncertain significance
Select item 658477	NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln)	NOTCH1 (R1211Q)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 575237	NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg)	NOTCH1 (H1190R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 477915	NM_017617.5(NOTCH1):c.3510+3G>A	NOTCH1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 452700	NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)	NOTCH1 (R1114H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 134927	NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val)	NOTCH1 (A1113V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 264380	NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile)	NOTCH1 (T1035I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 520078	NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser)	NOTCH1 (G1001S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 961542	NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala)	NOTCH1 (T984A)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GUncertain significance
Select item 510414	NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=)	NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +3 more	GLikely benign
Select item 1514596	NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met)	NOTCH1 (T928M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 520097	NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met)	NOTCH1 (T859M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 389533	NM_017617.5(NOTCH1):c.2468-19G>A	NOTCH1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 415401	NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +3 more	GBenign/Likely benign
Select item 477892	NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn)	NOTCH1 (D740N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 514726	NM_017617.5(NOTCH1):c.2207+15C>T	NOTCH1	Single nucleotide variant (intron variant)	Aortic valve disease 1 +3 more	GLikely benign
Select item 241122	NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=)	NOTCH1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 415381	NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=)	NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +4 more	GBenign/Likely benign
Select item 241121	NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)	NOTCH1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 951440	NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys)	NOTCH1 (R592C)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 449812	NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr)	NOTCH1 (A585T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 134907	NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val)	NOTCH1 (I567V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 567239	NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met)	NOTCH1 (T561M)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 241119	NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=)	NOTCH1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 220907	NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=)	NOTCH1	Single nucleotide variant (synonymous variant)	Aortic valve disease 1 +4 more	GBenign
Select item 392536	NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +3 more	GBenign/Likely benign
Select item 520096	NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met)	NOTCH1 (T432M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1617769	NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +2 more	GLikely benign
Select item 415396	NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +4 more	GBenign/Likely benign
Select item 409078	NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)	NOTCH1 (N280S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 134960	NM_017617.5(NOTCH1):c.826G>A (p.Val276Met)	NOTCH1 (V276M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 264044	NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn)	NOTCH1 (D259N)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +4 more	GConflicting classifications of pathogenicity
Select item 197310	NM_017617.5(NOTCH1):c.711C>T (p.Gly237=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +4 more	GBenign
Select item 376894	NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn)	NOTCH1 (S88N)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GBenign/Likely benign
Select item 477898	NM_017617.5(NOTCH1):c.236G>A (p.Arg79His)	NOTCH1 (R79H)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GUncertain significance
Select item 1314883	NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val)	LOC130003020, NOTCH1 (A12V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance

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Items: 71