"LAS1L-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 533410	NM_031206.7(LAS1L):c.1788TGA[1] (p.Asp597del)	LAS1L (D597del +3 more)	Microsatellite (inframe_deletion +1 more)	Wilson-Turner syndrome +1 more	GBenign
Select item 2420180	NM_031206.7(LAS1L):c.1209C>G (p.Leu403=)	LAS1L	Single nucleotide variant (synonymous variant +1 more)	Wilson-Turner syndrome +1 more	GBenign/Likely benign
Select item 533411	NM_031206.7(LAS1L):c.747C>T (p.Ser249=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	Wilson-Turner syndrome +1 more	GLikely benign
Select item 2660760	NM_031206.7(LAS1L):c.222G>T (p.Thr74=)	LAS1L	Single nucleotide variant (synonymous variant +2 more)	LAS1L-related disorder +1 more	GLikely benign
Select item 3031405	NM_031206.7(LAS1L):c.-3A>C	LAS1L	Single nucleotide variant (5 prime UTR variant +1 more)	LAS1L-related disorder	GLikely benign

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