C4551851[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802112	NM_133433.4(NIPBL):c.226del (p.His76fs)	NIPBL (H76fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 1685981	NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter)	NIPBL (R1106*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 802113	NM_133433.4(NIPBL):c.4378C>T (p.Leu1460Phe)	NIPBL (L1460F)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 802114	NM_133433.4(NIPBL):c.5195A>G (p.Lys1732Arg)	NIPBL (K1732R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely benign
Select item 159142	NM_133433.4(NIPBL):c.5329-15A>G	NIPBL	Single nucleotide variant (intron variant)	NIPBL-related condition +3 more	GPathogenic
Select item 802115	NM_133433.4(NIPBL):c.6275T>G (p.Leu2092Arg)	NIPBL (L2092R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 159195	NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)	NIPBL (D2160Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1685382	NM_133433.4(NIPBL):c.6763+5G>A	NIPBL	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 1685983	NM_133433.4(NIPBL):c.7307C>T (p.Ala2436Val)	NIPBL (A2436V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GPathogenic