| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion (frameshift variant) | COL4A1-related disorder | |
| | | Deletion | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | COL4A1, LOC126861856 (G449A) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A1, LOC126861856 (G437R) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861856, COL4A1 (E459Q) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A1, LOC126861856 (V432L) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A1, LOC126861856 (P451L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Single nucleotide variant (nonsense) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | COL4A1, LOC126861856 (I454L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | COL4A1, LOC126861856 (Q442H) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Deletion | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (splice donor variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | COL4A1, LOC126861856 (E456K) | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies +5 more | |
| | COL4A1, LOC126861856 (I447T) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A1, LOC126861856 (P445S) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A1, LOC126861856 (I431T) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital anomaly of kidney and urinary tract | |
| | | Single nucleotide variant (intron variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Single nucleotide variant (splice acceptor variant) | Brain small vessel disease 1 with or without ocular anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | COL4A1, LOC126861856 (G452fs) | Duplication (frameshift variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +5 more | |
| | LOC126861856, COL4A1 (I454V) | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies +4 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Insertion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |