C4551851[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523203	NM_133433.4(NIPBL):c.459-2A>G	NIPBL	Single nucleotide variant (splice acceptor variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 2441887	NM_133433.4(NIPBL):c.812C>T (p.Pro271Leu)	NIPBL (P271L)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 1030171	NM_133433.4(NIPBL):c.1152T>A (p.Asn384Lys)	NIPBL (N384K)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 521020	NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter)	NIPBL (R479*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 1031109	NM_133433.4(NIPBL):c.1849G>A (p.Glu617Lys)	NIPBL (E617K)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 1031110	NM_133433.4(NIPBL):c.2035T>A (p.Ser679Thr)	NIPBL (S679T)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 2441790	NM_133433.4(NIPBL):c.2093del (p.Lys697_Ser698insTer)	NIPBL	Deletion (nonsense)	Cornelia de Lange syndrome 1	GPathogenic
Select item 1031111	NM_133433.4(NIPBL):c.2405A>G (p.Lys802Arg)	NIPBL (K802R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 96336	NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)	NIPBL (R827fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2582599	NM_133433.4(NIPBL):c.4570delinsTA (p.Asp1524Ter)	NIPBL (D1524*)	Indel (nonsense)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 523201	NM_133433.4(NIPBL):c.4829T>C (p.Leu1610Pro)	NIPBL (L1610P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 159156	NM_133433.4(NIPBL):c.5709+1G>A	NIPBL	Single nucleotide variant (splice donor variant)	Cornelia de Lange syndrome 1	GPathogenic/Likely pathogenic
Select item 523202	NM_133433.4(NIPBL):c.6527T>C (p.Leu2176Pro)	NIPBL (L2176P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GLikely pathogenic
Select item 281748	NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr)	NIPBL (C2392Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 159230	NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs)	NIPBL (R2480fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1031112	NM_133433.4(NIPBL):c.7523A>G (p.Asp2508Gly)	NIPBL (D2508G)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 523222	NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter)	HDAC8 (R313* +1 more)	Single nucleotide variant (nonsense +1 more)	Cornelia de Lange syndrome 1 +1 more	GPathogenic