ClinVar for MedGen (Select 57875) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523447	NM_002016.2(FLG):c.10012A>T (p.Ser3338Cys)	FLG, FLG-AS1 (S3338C)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +4 more	GUncertain significance
Select item 523326	NM_000093.5(COL5A1):c.5150_5158del (p.Asp1717_Glu1719del)	COL5A1, LOC101448202	Deletion (inframe_deletion)	Hyperextensible skin +4 more	GLikely pathogenic
Select item 374067	NM_000093.5(COL5A1):c.2903del (p.Pro968fs)	COL5A1 (P968fs)	Deletion (frameshift variant)	Joint hypermobility +9 more	GLikely pathogenic

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