ClinVar for MedGen (Select 1053162) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235253	NM_000092.5(COL4A4):c.989del (p.Leu330fs)	COL4A4 (L330fs)	Deletion (frameshift variant)	Hematuria, benign familial, 1	GLikely pathogenic
Select item 3068630	NM_000091.5(COL4A3):c.3337+7C>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Hematuria, benign familial, 1	GUncertain significance
Select item 1678634	NM_000092.5(COL4A4):c.2446_2453dup (p.Val820fs)	COL4A4 (V820fs)	Duplication (frameshift variant)	Hematuria, benign familial, 1	GLikely pathogenic
Select item 1002812	NM_000092.5(COL4A4):c.871-6T>C	COL4A4	Single nucleotide variant (intron variant)	Hematuria, benign familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 552350	NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del)	COL4A4 (G1613del)	Microsatellite (inframe_deletion)	Hematuria, benign familial, 1 +1 more	GUncertain significance
Select item 17411	NM_000092.5(COL4A4):c.2878G>C (p.Gly960Arg)	COL4A4 (G960R)	Single nucleotide variant (missense variant)	Hematuria, benign familial, 1	GPathogenic
Select item 17410	NM_000092.5(COL4A4):c.3222dup (p.Gly1075fs)	COL4A4 (G1075fs)	Duplication (frameshift variant)	Hematuria, benign familial, 1	GPathogenic
Select item 17406	NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)	COL4A4 (G897E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic

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