"Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2430134	NM_133433.4(NIPBL):c.328A>T (p.Lys110Ter)	NIPBL (K110*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 99933	NM_133433.4(NIPBL):c.5456G>A (p.Arg1819Gln)	NIPBL (R1819Q)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1 +1 more	GLikely pathogenic