ClinVar for MedGen (Select 78698) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 843079	NM_002292.4(LAMB2):c.1015G>A (p.Gly339Ser)	LAMB2 (G339S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 557549	NM_000092.5(COL4A4):c.428G>T (p.Gly143Val)	COL4A4 (G143V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity