"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 895633	NM_000092.5(COL4A4):c.4081+9C>G	COL4A4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2921205	NM_000092.5(COL4A4):c.3124G>A (p.Gly1042Ser)	COL4A4 (G1042S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 255027	NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)	COL4A4 (G999E)	Single nucleotide variant (missense variant)	COL4A4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 255023	NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln)	COL4A4 (R877Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 255013	NM_000092.5(COL4A4):c.1323T>C (p.Pro441=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GBenign/Likely benign
Select item 1561337	NM_000092.5(COL4A4):c.933G>A (p.Gly311=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 931145	NM_000092.5(COL4A4):c.736-4del	COL4A4	Deletion (intron variant)	COL4A4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 438704	NM_000092.5(COL4A4):c.594+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	Benign familial hematuria +2 more	GPathogenic/Likely pathogenic

ClinVar