Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001845.5(COL4A1):c.4738G>C (p.Gly1580Arg) | 1282 | COL4A1 | Pathogenic | 113994114 | RCV000018965; | N | MedGen:C1867983,OMIM:175780 | 13 | 110807647 | 110807647 | NM_001845.5:c.4738G>C | NP_001836.3:p.Gly1580Arg | NC_000013.10:g.110807647C>G | OMIM Allelic Variant:120130.0011 | C1867983 175780 Familial porencephaly | | |
NM_001845.5(COL4A1):c.4267G>C (p.Gly1423Arg) | 1282 | COL4A1 | Pathogenic | 113994113 | RCV000018960; | N | MedGen:C1867983,OMIM:175780 | 13 | 110814772 | 110814772 | NM_001845.5:c.4267G>C | NP_001836.3:p.Gly1423Arg | NC_000013.10:g.110814772C>G | OMIM Allelic Variant:120130.0006 | C1867983 175780 Familial porencephaly | | |
NM_001845.5(COL4A1):c.3706G>A (p.Gly1236Arg) | 1282 | COL4A1 | Pathogenic | 113994112 | RCV000018955; | N | MedGen:C1867983,OMIM:175780 | 13 | 110822930 | 110822930 | NM_001845.5:c.3706G>A | NP_001836.3:p.Gly1236Arg | NC_000013.10:g.110822930C>T | OMIM Allelic Variant:120130.0001 | C1867983 175780 Familial porencephaly | | |
NM_001845.5(COL4A1):c.3389G>A (p.Gly1130Asp) | 1282 | COL4A1 | Pathogenic | 113994111 | RCV000018959; | N | MedGen:C1867983,OMIM:175780 | 13 | 110826810 | 110826810 | NM_001845.5:c.3389G>A | NP_001836.3:p.Gly1130Asp | NC_000013.10:g.110826810C>T | OMIM Allelic Variant:120130.0005 | C1867983 175780 Familial porencephaly | | |
NM_001845.5(COL4A1):c.2662G>A (p.Gly888Arg) | 1282 | COL4A1 | Likely pathogenic | 797045034 | RCV000191072; | N | MedGen:C1843512,OMIM:607595; MedGen:C1867983,OMIM:175780 | 13 | 110830243 | 110830243 | NM_001845.5:c.2662G>A | NP_001836.3:p.Gly888Arg | NC_000013.10:g.110830243C>T | - | C1843512 607595 Brain small vessel disease with hemorrhage; C1867983 175780 Familial porencephaly | | |
NM_001845.5(COL4A1):c.2245G>A (p.Gly749Ser) | 1282 | COL4A1 | Pathogenic | 113994109 | RCV000018956; | N | MedGen:C1867983,OMIM:175780 | 13 | 110831717 | 110831717 | NM_001845.5:c.2245G>A | NP_001836.3:p.Gly749Ser | NC_000013.10:g.110831717C>T | OMIM Allelic Variant:120130.0002 | C1867983 175780 Familial porencephaly | | |
NM_001845.5(COL4A1):c.1A>T (p.Met1Leu) | 1282 | COL4A1 | Pathogenic | 113994103 | RCV000018958; | N | MedGen:C1867983,OMIM:175780 | 13 | 110959374 | 110959374 | NM_001845.5:c.1A>T | NP_001836.3:p.Met1Leu | NC_000013.10:g.110959374T>A | OMIM Allelic Variant:120130.0004 | C1867983 175780 Familial porencephaly | | |