"Molecular and Medical Genetics Group, King's College London"[submitte - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 219383	NM_017617.5(NOTCH1):c.6049_6050del (p.Ser2017fs)	NOTCH1, LOC126860794 (S2017fs)	Deletion (frameshift variant)	Adams-Oliver syndrome 5	GPathogenic
Select item 219382	NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser)	NOTCH1 (A1740S)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +1 more	GUncertain significance
Select item 219381	NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs)	NOTCH1 (M1580fs)	Duplication (frameshift variant)	Adams-Oliver syndrome 5	GPathogenic
Select item 219380	NM_017617.5(NOTCH1):c.4663G>T (p.Glu1555Ter)	NOTCH1 (E1555*)	Single nucleotide variant (nonsense)	Adams-Oliver syndrome 5	GPathogenic
Select item 219379	NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg)	NOTCH1 (C1374R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely pathogenic
Select item 219378	NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter)	NOTCH1 (Y550*)	Duplication (nonsense)	Adams-Oliver syndrome 5	GPathogenic
Select item 219377	NM_017617.5(NOTCH1):c.1367G>A (p.Cys456Tyr)	NOTCH1 (C456Y)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely pathogenic
Select item 219376	NM_017617.5(NOTCH1):c.1345T>C (p.Cys449Arg)	NOTCH1 (C449R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GLikely pathogenic
Select item 219375	NM_017617.5(NOTCH1):c.1343G>A (p.Arg448Gln)	NOTCH1 (R448Q)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GPathogenic
Select item 219374	NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg)	NOTCH1 (P407R)	Single nucleotide variant (missense variant)	Aortic valve disease 1 +1 more	GConflicting classifications of pathogenicity