"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LMF1"[gene - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675592	NM_022773.4(LMF1):c.1565G>T (p.Ser522Ile)	LMF1 (Q495H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 785517	NM_022773.4(LMF1):c.1362C>T (p.Leu454=)	LMF1	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 782342	NM_022773.4(LMF1):c.1351C>T (p.Arg451Trp)	LMF1 (R342W +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1675593	NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter)	LMF1 (Q205* +3 more)	Single nucleotide variant (nonsense +1 more)	Lipase deficiency, combined +1 more	GPathogenic
Select item 978328	NM_022773.4(LMF1):c.1060C>T (p.Arg354Trp)	LMF1 (R137W +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GBenign
Select item 1535686	NM_022773.4(LMF1):c.205C>T (p.Leu69=)	LMF1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 790160	NM_022773.4(LMF1):c.117C>A (p.Gly39=)	LMF1, LOC130058141	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GBenign/Likely benign
Select item 790161	NM_022773.4(LMF1):c.95C>T (p.Ala32Val)	LOC130058141, LMF1 (A32V)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GBenign/Likely benign
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic