"Baylor Genetics"[submitter] AND "COL4A2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027967	NM_001846.4(COL4A2):c.286C>T (p.Pro96Ser)	COL4A2 (P96S)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 560985	NM_001846.4(COL4A2):c.316-1G>C	COL4A2	Single nucleotide variant (splice acceptor variant)	Porencephaly 2	GPathogenic
Select item 2441713	NM_001846.4(COL4A2):c.3205del (p.Arg1069fs)	COL4A2 (R1069fs)	Deletion (frameshift variant)	Porencephaly 2	GUncertain significance
Select item 2441869	NM_001846.4(COL4A2):c.3976G>A (p.Gly1326Arg)	COL4A2, COL4A2-AS1 (G1326R)	Single nucleotide variant (missense variant)	Porencephaly 2 +1 more	GUncertain significance
Select item 2442208	NM_001846.4(COL4A2):c.4264C>T (p.Gln1422Ter)	COL4A2, COL4A2-AS1 (Q1422*)	Single nucleotide variant (nonsense)	Porencephaly 2	GUncertain significance
Select item 311198	NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu)	COL4A2 (R1704L)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	GPathogenic

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