"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976348	NM_133433.4(NIPBL):c.1285C>G (p.Leu429Val)	NIPBL (L429V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 982882	NM_133433.4(NIPBL):c.1717T>C (p.Cys573Arg)	NIPBL (C573R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 983016	NM_133433.4(NIPBL):c.1925C>T (p.Thr642Ile)	NIPBL (T642I)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 982917	NM_133433.4(NIPBL):c.3527A>G (p.Glu1176Gly)	NIPBL (E1176G)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 1285462	NM_133433.4(NIPBL):c.3928G>A (p.Ala1310Thr)	NIPBL (A1310T)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 99932	NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)	NIPBL (R1789Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 976378	NM_133433.4(NIPBL):c.7552G>A (p.Asp2518Asn)	NIPBL (D2518N)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 976313	NM_133433.4(NIPBL):c.8370del (p.Thr2791fs)	NIPBL (T2791fs)	Deletion (3 prime UTR variant +1 more)	Cornelia de Lange syndrome 1	GUncertain significance