ClinVar for MedGen (Select 75670) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 440954	NM_001365276.2(TNXB):c.2531A>G (p.Gln844Arg)	TNXB (Q844R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 3	Gnot provided
Select item 424386	NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg)	COL3A1 (S1154R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 222755	NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn)	NOTCH1 (T232N)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 217018	NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val)	TNXB (D2025V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 216910	NM_000090.4(COL3A1):c.4096C>T (p.Gln1366Ter)	COL3A1 (Q1366*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely pathogenic
Select item 199744	NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)	COL3A1 (K1273R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 3 +3 more	GConflicting classifications of pathogenicity

ClinVar