"LEO1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042939	NM_138792.4(LEO1):c.1989A>T (p.Glu663Asp)	LEO1 (E603D +1 more)	Single nucleotide variant (missense variant +1 more)	LEO1-related disorder	GLikely benign
Select item 3049111	NM_138792.4(LEO1):c.1897-3305G>T	LEO1 (E644*)	Single nucleotide variant (nonsense +1 more)	LEO1-related disorder	GLikely benign
Select item 3044065	NM_138792.4(LEO1):c.1827C>T (p.Asp609=)	LEO1	Single nucleotide variant (synonymous variant)	LEO1-related disorder	GBenign
Select item 2632018	NM_138792.4(LEO1):c.1721G>A (p.Arg574Gln)	LEO1 (R514Q +1 more)	Single nucleotide variant (missense variant)	LEO1-related disorder	GUncertain significance
Select item 3046394	NM_138792.4(LEO1):c.1341-3C>T	LEO1	Single nucleotide variant (intron variant)	LEO1-related disorder	GLikely benign
Select item 3041459	NM_138792.4(LEO1):c.1240T>C (p.Leu414=)	LEO1	Single nucleotide variant (synonymous variant +1 more)	LEO1-related disorder	GBenign
Select item 2635817	NM_138792.4(LEO1):c.1139A>G (p.Asn380Ser)	LEO1 (N380S)	Single nucleotide variant (missense variant)	LEO1-related disorder	GUncertain significance
Select item 3042579	NM_138792.4(LEO1):c.1113C>T (p.Asn371=)	LEO1	Single nucleotide variant (synonymous variant)	LEO1-related disorder	GLikely benign
Select item 3053050	NM_138792.4(LEO1):c.894G>A (p.Ala298=)	LEO1	Single nucleotide variant (synonymous variant)	LEO1-related disorder	GLikely benign
Select item 3060993	NM_138792.4(LEO1):c.823A>G (p.Arg275Gly)	LEO1 (R275G)	Single nucleotide variant (missense variant)	LEO1-related disorder	GBenign
Select item 2637254	NM_138792.4(LEO1):c.668dup (p.Asp223fs)	LEO1 (D223fs)	Duplication (frameshift variant)	LEO1-related disorder	GUncertain significance
Select item 2367079	NM_138792.4(LEO1):c.190G>T (p.Asp64Tyr)	LEO1 (D64Y)	Single nucleotide variant (missense variant)	LEO1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3037915	NM_138792.4(LEO1):c.63T>C (p.Ser21=)	LEO1	Single nucleotide variant (synonymous variant)	LEO1-related disorder	GBenign