C4011403[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 839926	NM_000228.3(LAMB3):c.3228+1G>A	LAMB3	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta type 1A +4 more	GPathogenic
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 550265	NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp)	LAMB3 (R988W)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 449050	NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)	LAMB3 (R972*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa +4 more	GPathogenic
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 1050101	NM_000228.3(LAMB3):c.2632C>T (p.Arg878Cys)	LAMB3 (R878C)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1A +2 more	GUncertain significance
Select item 295092	NM_000228.3(LAMB3):c.2397A>G (p.Ile799Met)	LAMB3 (I799M)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1A +3 more	GUncertain significance
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 551396	NM_000228.3(LAMB3):c.1288+1G>T	LAMB3	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 265229	NM_000228.3(LAMB3):c.1132+5G>A	LAMB3	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GPathogenic/Likely pathogenic
Select item 372402	NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)	LAMB3 (Y339*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GPathogenic
Select item 188937	NM_000228.3(LAMB3):c.463dup (p.Ser155fs)	LAMB3 (S155fs)	Duplication (frameshift variant)	Amelogenesis imperfecta type 1A +3 more	GPathogenic/Likely pathogenic
Select item 14541	NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)	LAMB3 (R42*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GPathogenic
Select item 633285	NM_000228.3(LAMB3):c.31dup (p.Leu11fs)	LAMB3 (L11fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 876214	NM_000228.3(LAMB3):c.-72C>A	LOC126805999, LAMB3	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GUncertain significance