"PreventionGenetics, part of Exact Sciences"[submitter] AND "LRMDA"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034272	NM_001305581.2(LRMDA):c.124C>T (p.Leu42Phe)	LRMDA (L42F)	Single nucleotide variant (missense variant)	LRMDA-related disorder	GBenign
Select item 261988	NM_001305581.2(LRMDA):c.132-253012del	LRMDA (S8fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 41917	NM_001305581.2(LRMDA):c.150dup (p.Ala51fs)	LOC110121427, LRMDA (A51fs +1 more)	Duplication (frameshift variant +1 more)	LRMDA-related disorder +2 more	GPathogenic
Select item 261986	NM_001305581.2(LRMDA):c.193C>T (p.Leu65=)	LOC110121427, LRMDA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 261987	NM_001305581.2(LRMDA):c.228A>G (p.Arg76=)	LOC110121427, LRMDA	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 261989	NM_001305581.2(LRMDA):c.336C>T (p.Asn112=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 261990	NM_001305581.2(LRMDA):c.364T>C (p.Leu122=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	Oculocutaneous albinism type 7 +2 more	GBenign
Select item 721937	NM_001305581.2(LRMDA):c.477G>A (p.Ala159=)	LRMDA	Single nucleotide variant (synonymous variant +1 more)	LRMDA-related disorder +1 more	GBenign/Likely benign
Select item 717935	NM_001305581.2(LRMDA):c.480G>T (p.Leu160Phe)	LRMDA (L132F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 261991	NM_001305581.2(LRMDA):c.542C>T (p.Ser181Phe)	LRMDA (S153F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 261992	NM_001305581.2(LRMDA):c.611G>A (p.Gly204Glu)	LRMDA (G176E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign