ClinVar for MedGen (Select 140849) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523433	NM_000501.4(ELN):c.898A>T (p.Thr300Ser)	ELN (T300S +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +9 more	GUncertain significance
Select item 523328	NM_000093.5(COL5A1):c.608G>T (p.Gly203Val)	COL5A1 (G203V)	Single nucleotide variant (missense variant)	Cataract +12 more	GLikely pathogenic
Select item 374067	NM_000093.5(COL5A1):c.2903del (p.Pro968fs)	COL5A1 (P968fs)	Deletion (frameshift variant)	Joint hyperflexibility +9 more	GLikely pathogenic
Select item 267892	46;XX;t(4;14)(p15.2;q13)dn		Translocation	Abnormality of the dentition +14 more	GLikely pathogenic
Select item 267835	46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dn		Complex	Piebaldism +15 more	GUncertain significance
Select item 17343	NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)	COL1A1 (R312C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +12 more	GPathogenic/Likely pathogenic

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