"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523446	NM_001846.4(COL4A2):c.551G>A (p.Gly184Asp)	COL4A2 (G184D)	Single nucleotide variant (missense variant)	Joint hypermobility	GUncertain significance
Select item 311122	NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val)	COL4A2 (A419V)	Single nucleotide variant (missense variant)	COL4A2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 931182	NM_001846.4(COL4A2):c.1412G>A (p.Arg471His)	COL4A2, COL4A2-AS2 (R471H)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 932136	NM_001846.4(COL4A2):c.1517G>A (p.Gly506Asp)	COL4A2, COL4A2-AS2 (G506D)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 523445	NM_001846.4(COL4A2):c.1776+13A>G	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	Vasculitis	GUncertain significance
Select item 931043	NM_001846.4(COL4A2):c.2995A>G (p.Met999Val)	COL4A2 (M999V)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 932102	NM_001846.4(COL4A2):c.3397C>T (p.Pro1133Ser)	COL4A2 (P1133S)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 931894	NM_001846.4(COL4A2):c.4969G>A (p.Glu1657Lys)	COL4A2 (E1657K)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance

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