"Baylor Genetics"[submitter] AND "LAMB3"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030686	NM_000228.3(LAMB3):c.3382+1G>A	LAMB3	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta type 1A	GLikely pathogenic
Select item 813342	NC_000001.11:g.209617587del	LAMB3	Deletion	Junctional epidermolysis bullosa gravis of Herlitz	GLikely pathogenic
Select item 1034117	NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln)	LAMB3 (R988Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 372403	NM_000228.3(LAMB3):c.2842del (p.Val948fs)	LAMB3 (V948fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GPathogenic
Select item 14539	NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)	LAMB3 (R635*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GPathogenic
Select item 188764	NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)	LAMB3 (R569*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GPathogenic/Likely pathogenic
Select item 558343	NM_000228.3(LAMB3):c.1486-1G>A	LAMB3	Single nucleotide variant (splice acceptor variant)	Junctional epidermolysis bullosa +2 more	GLikely pathogenic
Select item 279829	NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs)	LAMB3 (N345fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 1030687	NM_000228.3(LAMB3):c.655_656delinsTC (p.Val219Ser)	LAMB3 (V219S)	Indel (missense variant)	Amelogenesis imperfecta type 1A	GUncertain significance