ClinVar for MedGen (Select 242750) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523327	NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys)	COL5A1, LOC101448202 (E1772K)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 374121	NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)	RPS6KA3 (A178G)	Single nucleotide variant (missense variant)	Abnormality of the lower limb +13 more	GLikely pathogenic