ClinVar for MedGen (Select 393597) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17137	NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)	COL11A1 (S1535P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GBenign
Select item 12713	NM_003247.5(THBS2):c.1478-8C>T	THBS2, THBS2-AS1	Single nucleotide variant (intron variant)	THBS2-related disorder +1 more	GBenign; risk factor