ClinVar for MedGen (Select 815116) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192589	NM_001305581.2(LRMDA):c.516+53C>T	LRMDA	Single nucleotide variant (intron variant)	Oculocutaneous albinism type 7	GBenign
Select item 1192588	NM_001305581.2(LRMDA):c.398+31A>C	LRMDA	Single nucleotide variant (intron variant)	Oculocutaneous albinism type 7	GBenign
Select item 540347	NM_001029896.2(WDR45):c.254C>T (p.Ala85Val)	WDR45 (A86V +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5 +1 more	GUncertain significance
Select item 282969	NM_001029896.2(WDR45):c.838G>A (p.Val280Met)	WDR45 (V281M +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 280098	NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter)	LOC126863256, WDR45 (R7*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic
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 261986	NM_001305581.2(LRMDA):c.193C>T (p.Leu65=)	LOC110121427, LRMDA	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 209972	NM_001305581.2(LRMDA):c.351C>A (p.Asn117Lys)	LRMDA (N117K +1 more)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 7	GLikely pathogenic
Select item 41917	NM_001305581.2(LRMDA):c.150dup (p.Ala51fs)	LOC110121427, LRMDA (A51fs +1 more)	Duplication (frameshift variant +1 more)	LRMDA-related condition +2 more	GPathogenic
Select item 41916	NM_001305581.2(LRMDA):c.664C>T (p.Arg222Ter)	LRMDA (R194* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic