| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Hemorrhage, intracerebral, susceptibility to | |
| | | Single nucleotide variant (missense variant) | Hemorrhage, intracerebral, susceptibility to | |
| | | Microsatellite (splice acceptor variant) | COL4A2-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COL4A2, COL4A2-AS1 (C1549Y) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A2, COL4A2-AS1 (A1328S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COL4A2, COL4A2-AS1 (G1320R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | COL4A2-related condition +1 more | |
| | COL4A2, COL4A2-AS2 (G509R) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A2, COL4A2-AS2 (C485R) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A2, COL4A2-AS2 (N537K) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A2, COL4A2-AS2 (A505S) | 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 (synonymous variant) | not provided | |
| | COL4A2, COL4A2-AS1 (H1603N) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | COL4A2, COL4A2-AS1 (S1496T) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A2, COL4A2-AS1 (A1534S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | COL4A2, COL4A2-AS2 (R484S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COL4A2, COL4A2-AS2 (A480T) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | COL4A2, COL4A2-AS2 (G503fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | COL4A2, COL4A2-AS2 (G454fs) | Deletion (frameshift variant) | not provided | |
| | | Indel (intron variant) | not provided | |
| | COL4A2, COL4A2-AS2 (G578A) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A2, COL4A2-AS2 (P520S) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A2, COL4A2-AS1 (D1366fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | COL4A2, COL4A2-AS1 (P1413fs) | Deletion (frameshift variant) | Porencephaly 2 | |
| | | Single nucleotide variant (nonsense) | Porencephaly 2 | |
| | COL4A2, COL4A2-AS1 (P1610S) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | COL4A2, COL4A2-AS1 (L1533M) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A2, COL4A2-AS2 (G466S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | COL4A2, COL4A2-AS1 (Y1557F) | Single nucleotide variant (missense variant) | COL4A2-related condition | |
| | | Single nucleotide variant (synonymous variant) | COL4A2-related condition +1 more | GConflicting classifications of pathogenicity |
| | COL4A2, COL4A2-AS2 (G539S) | Single nucleotide variant (missense variant) | COL4A2-related condition | |
| | COL4A2, COL4A2-AS2 (T555fs) | Deletion (frameshift variant) | COL4A2-related condition | |
| | COL4A2, COL4A2-AS1 (W1512*) | Single nucleotide variant (nonsense) | COL4A2-related condition | |
| | | Single nucleotide variant (splice acceptor variant) | COL4A2-related condition | |
| | COL4A2, COL4A2-AS2 (G451E) | Single nucleotide variant (non-coding transcript variant +1 more) | COL4A2-related condition | |
| | COL4A2, COL4A2-AS2 (F585S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Porencephaly 2 | |
| | COL4A2, COL4A2-AS2 (G521S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL4A2, COL4A2-AS2 (G569R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL4A2, COL4A2-AS2 (T555P) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Porencephaly 2 | |
| | | Single nucleotide variant (missense variant) | Porencephaly 2 | |
| | COL4A2, COL4A2-AS2 (D489E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL4A2, COL4A2-AS1 (D1581N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL4A2, COL4A2-AS1 (E1594Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | COL4A2, COL4A2-AS2 (L588F) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A2, COL4A2-AS1 (P1298T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL4A2, COL4A2-AS2 (G524R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL4A2, COL4A2-AS1 (Q1422*) | Single nucleotide variant (nonsense) | Porencephaly 2 | |
| | COL4A2-AS1, COL4A2 (G1326R) | Single nucleotide variant (missense variant) | COL4A2-related condition +1 more | |
| | | Deletion (frameshift variant) | Porencephaly 2 | |
| | | Single nucleotide variant (missense variant) | Porencephaly 2 | |
| | | Single nucleotide variant (missense variant) | Hemorrhage, intracerebral, susceptibility to | |
| | COL4A2, COL4A2-AS2 (G466fs) | Deletion (frameshift variant) | not provided | |
| | COL4A2, COL4A2-AS1 (P1439L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COL4A2-AS1, COL4A2 (P1412L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL4A2, COL4A2-AS1 (R1589H) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | COL4A2, COL4A2-AS1 (R1295Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | COL4A2, COL4A2-AS1 (P1585R) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | COL4A2, COL4A2-AS1 (R1540W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL4A2, COL4A2-AS2 (G457E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL4A2-AS1, COL4A2 (N1528S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL4A2-AS1, COL4A2 (N1550D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL4A2-AS1, COL4A2 (R1336K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL4A2-AS1, COL4A2 (D1562N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | COL4A2, COL4A2-AS1 (Y1490H) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COL4A2, COL4A2-AS2 (V564I) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A2, COL4A2-AS1 (R1540Q) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A2, COL4A2-AS1 (R1452W) | Single nucleotide variant (missense variant) | COL4A2-related condition +1 more | |
| | COL4A2, COL4A2-AS1 (A1526V) | Single nucleotide variant (missense variant) | not provided | |
| | COL4A2, COL4A2-AS2 (R579H) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | COL4A2, COL4A2-AS1 (A1539V) | Single nucleotide variant (missense variant) | not provided | |