"ITMI"[submitter] AND "NOTCH1"[gene] - ClinVar

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Items: 67

	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)	Aortic valve disease 1 +5 more	GLikely benign
Select item 134948	NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys)	NOTCH1 (R2549C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134947	NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu)	NOTCH1 (S2467L)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 134957	NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr)	NOTCH1 (A2331T)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GBenign/Likely benign
Select item 134956	NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln)	NOTCH1 (R2327Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 134955	NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg)	NOTCH1 (G2300R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 134954	NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)	NOTCH1 (V2285I)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 134953	NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln)	NOTCH1 (R2263Q)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +4 more	GConflicting classifications of pathogenicity
Select item 134952	NM_017617.5(NOTCH1):c.6769G>A (p.Ala2257Thr)	NOTCH1 (A2257T)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 134951	NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg)	NOTCH1 (G2245R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 134950	NM_017617.5(NOTCH1):c.6536G>A (p.Arg2179Gln)	NOTCH1 (R2179Q)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 134949	NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)	NOTCH1 (G2152R)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GBenign/Likely benign
Select item 134946	NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser)	NOTCH1 (P2137S)	Single nucleotide variant (missense variant)	NOTCH1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 133356	NM_017617.5(NOTCH1):c.5167+228T>G	NOTCH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 133357	NM_017617.5(NOTCH1):c.5167+208C>T	NOTCH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 133359	NM_017617.5(NOTCH1):c.5167+189C>G	NOTCH1	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133358	NM_017617.5(NOTCH1):c.5167+189delinsGG	NOTCH1	Indel (intron variant)	not specified	Gnot provided
Select item 133360	NM_017617.5(NOTCH1):c.5167+174G>A	NOTCH1	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133361	NM_017617.5(NOTCH1):c.5167+162G>A	NOTCH1	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133362	NM_017617.5(NOTCH1):c.5167+142A>C	NOTCH1	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133363	NM_017617.5(NOTCH1):c.5167+115G>A	NOTCH1	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133364	NM_017617.5(NOTCH1):c.5167+114C>T	NOTCH1	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133365	NM_017617.5(NOTCH1):c.5167+108C>T	NOTCH1	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133366	NM_017617.5(NOTCH1):c.5167+73G>A	NOTCH1	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133367	NM_017617.5(NOTCH1):c.5167+43_5167+44delinsT	NOTCH1	Indel (intron variant)	not specified	Gnot provided
Select item 134941	NM_017617.5(NOTCH1):c.5015G>A (p.Arg1672His)	NOTCH1 (R1672H)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 134940	NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)	NOTCH1 (V1671I)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +4 more	GBenign/Likely benign
Select item 134939	NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)	NOTCH1 (R1608H)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +4 more	GBenign/Likely benign
Select item 156007	NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr)	NOTCH1 (C1496Y)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GPathogenic
Select item 134936	NM_017617.5(NOTCH1):c.4276C>T (p.His1426Tyr)	NOTCH1 (H1426Y)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134938	NM_017617.5(NOTCH1):c.4222G>A (p.Glu1408Lys)	NOTCH1 (E1408K)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GBenign
Select item 134935	NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)	NOTCH1 (P1390T)	Single nucleotide variant (missense variant)	Connective tissue disorder +7 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 provided +4 more	GBenign/Likely benign
Select item 134933	NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys)	NOTCH1 (R1356C)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GConflicting classifications of pathogenicity
Select item 134937	NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu)	NOTCH1 (R1350L)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 134932	NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)	NOTCH1 (A1343V)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +5 more	GBenign/Likely benign
Select item 134931	NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=)	NOTCH1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 134930	NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)	NOTCH1 (R1279H)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +4 more	GBenign/Likely benign
Select item 134929	NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)	NOTCH1 (P1256L)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +4 more	GBenign/Likely benign
Select item 134928	NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn)	NOTCH1 (D1200N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 134926	NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg)	NOTCH1 (Q1134R)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GBenign/Likely benign
Select item 134927	NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val)	NOTCH1 (A1113V)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +2 more	GConflicting classifications of pathogenicity
Select item 134925	NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser)	NOTCH1 (G1071S)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +2 more	GUncertain significance
Select item 134924	NM_017617.5(NOTCH1):c.3192C>G (p.Asp1064Glu)	NOTCH1 (D1064E)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134922	NM_017617.5(NOTCH1):c.2981A>G (p.Asn994Ser)	NOTCH1 (N994S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134921	NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)	NOTCH1 (R912W)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 134920	NM_017617.5(NOTCH1):c.2635C>T (p.Arg879Trp)	NOTCH1 (R879W)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GBenign
Select item 134919	NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)	NOTCH1 (E848K)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +5 more	GBenign/Likely benign
Select item 134918	NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu)	NOTCH1 (P832L)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 134917	NM_017617.5(NOTCH1):c.2473A>G (p.Thr825Ala)	NOTCH1 (T825A)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134916	NM_017617.5(NOTCH1):c.2377_2379del (p.Asn793del)	NOTCH1 (N793del)	Deletion (inframe_deletion)	Adams-Oliver syndrome 5	GUncertain significance
Select item 134914	NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del)	NOTCH1 (N755del)	Deletion (inframe_deletion)	Aortic valve disease 1 +3 more	GUncertain significance
Select item 134915	NM_017617.5(NOTCH1):c.2247C>G (p.Asn749Lys)	NOTCH1 (N749K)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134913	NM_017617.5(NOTCH1):c.2192G>A (p.Arg731Gln)	NOTCH1 (R731Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 134912	NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His)	NOTCH1 (R703H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 134911	NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys)	NOTCH1 (E694K)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 134910	NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His)	NOTCH1 (R621H)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +4 more	GLikely benign
Select item 134908	NM_017617.5(NOTCH1):c.1754C>T (p.Ala585Val)	NOTCH1 (A585V)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134909	NM_017617.5(NOTCH1):c.1702G>A (p.Asp568Asn)	NOTCH1 (D568N)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely benign
Select item 134907	NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val)	NOTCH1 (I567V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 134960	NM_017617.5(NOTCH1):c.826G>A (p.Val276Met)	NOTCH1 (V276M)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +3 more	GUncertain significance
Select item 134959	NM_017617.5(NOTCH1):c.701G>A (p.Arg234His)	NOTCH1 (R234H)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 134958	NM_017617.5(NOTCH1):c.608G>A (p.Arg203His)	NOTCH1 (R203H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 134944	NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)	NOTCH1 (T123M)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +5 more	GBenign/Likely benign
Select item 134943	NM_017617.5(NOTCH1):c.361A>G (p.Thr121Ala)	NOTCH1 (T121A)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134942	NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser)	NOTCH1 (N104S)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +6 more	GBenign/Likely benign
Select item 134923	NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)	NOTCH1 (P22S)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +5 more	GBenign/Likely benign

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Items: 67