"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LMF1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 733437	NM_022773.4(LMF1):c.1608G>T (p.Val536=)	LMF1 (A510S)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 753950	NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn)	LMF1 (R464Q +4 more)	Single nucleotide variant (missense variant +1 more)	Lipase deficiency, combined +2 more	GConflicting classifications of pathogenicity
Select item 1355882	NM_022773.4(LMF1):c.1219G>A (p.Gly407Arg)	LMF1 (G274R +3 more)	Single nucleotide variant (missense variant +1 more)	Lipase deficiency, combined +2 more	GUncertain significance
Select item 1254042	NM_022773.4(LMF1):c.1092G>A (p.Arg364=)	LMF1	Single nucleotide variant (synonymous variant +1 more)	Lipase deficiency, combined +2 more	GBenign/Likely benign
Select item 1254599	NM_022773.4(LMF1):c.683G>A (p.Gly228Glu)	LMF1 (G119E +3 more)	Single nucleotide variant (missense variant +1 more)	Lipase deficiency, combined +2 more	GUncertain significance
Select item 730610	NM_022773.4(LMF1):c.384G>C (p.Leu128Phe)	LMF1 (L128F +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 594734	NM_022773.4(LMF1):c.302G>C (p.Arg101Thr)	LMF1 (R101T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign
Select item 790161	NM_022773.4(LMF1):c.95C>T (p.Ala32Val)	LMF1, LOC130058141 (A32V)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GBenign/Likely benign