| 150520540 | CV1289762 | single nucleotide variant | NM_001553.3(IGFBP7):c.585+4T>A | Familial retinal arterial macroaneurysm [RCV001730169]|not provided [RCV004716797] | benign | 4 | 57040820 | 57040820 | Human | 1 | name |
| 8568240 | CV39236 | single nucleotide variant | NM_001553.3(IGFBP7):c.830-1G>A | Familial retinal arterial macroaneurysm [RCV003987330]|Retinal arterial macroaneurysm with supravascular pulmonic stenosis [RCV000023215]|not provided [RCV005416323] | pathogenic|likely pathogenic|uncertain significance | 4 | 57031337 | 57031337 | Human | 1 | name |
| 15130280 | CV779041 | single nucleotide variant | NM_001553.3(IGFBP7):c.703-10T>C | not provided [RCV000964408] | benign | 4 | 57032562 | 57032562 | Human | | name |
| 405799272 | CV3264055 | single nucleotide variant | NM_001553.3(IGFBP7):c.83C>T (p.Ser28Phe) | Inborn genetic diseases [RCV004402507] | uncertain significance | 4 | 57110269 | 57110269 | Human | 1 | name |
| 15181662 | CV709401 | single nucleotide variant | NM_001553.3(IGFBP7):c.561G>A (p.Pro187=) | not provided [RCV000974447] | benign | 4 | 57040848 | 57040848 | Human | | name |
| 156399864 | CV2202271 | single nucleotide variant | NM_001553.3(IGFBP7):c.250G>A (p.Gly84Ser) | Inborn genetic diseases [RCV002656237] | uncertain significance | 4 | 57110102 | 57110102 | Human | 1 | name |
| 155974843 | CV2211211 | single nucleotide variant | NM_001553.3(IGFBP7):c.229G>A (p.Gly77Ser) | Inborn genetic diseases [RCV002687827] | uncertain significance | 4 | 57110123 | 57110123 | Human | 1 | name |
| 156297635 | CV2240875 | single nucleotide variant | NM_001553.3(IGFBP7):c.255G>A (p.Met85Ile) | Inborn genetic diseases [RCV002748262] | uncertain significance | 4 | 57110097 | 57110097 | Human | 1 | name |
| 156055124 | CV2243154 | single nucleotide variant | NM_001553.3(IGFBP7):c.226G>A (p.Ala76Thr) | Inborn genetic diseases [RCV002782251] | uncertain significance | 4 | 57110126 | 57110126 | Human | 1 | name |
| 156301547 | CV2322793 | single nucleotide variant | NM_001553.3(IGFBP7):c.167C>T (p.Ala56Val) | Inborn genetic diseases [RCV002936405] | uncertain significance | 4 | 57110185 | 57110185 | Human | 1 | name |
| 156160027 | CV2322794 | single nucleotide variant | NM_001553.3(IGFBP7):c.233G>A (p.Arg78Lys) | Inborn genetic diseases [RCV002955198] | uncertain significance | 4 | 57110119 | 57110119 | Human | 1 | name |
| 405258805 | CV3215085 | single nucleotide variant | NM_001553.3(IGFBP7):c.101C>A (p.Pro34His) | IGFBP7-related disorder [RCV003942147] | likely benign | 4 | 57110251 | 57110251 | Human | | name , trait , alternate_id |
| 407514868 | CV3440770 | single nucleotide variant | NM_001553.3(IGFBP7):c.274A>G (p.Lys92Glu) | Inborn genetic diseases [RCV004627757] | uncertain significance | 4 | 57110078 | 57110078 | Human | 1 | name |
| 407514872 | CV3440772 | single nucleotide variant | NM_001553.3(IGFBP7):c.193C>T (p.Arg65Cys) | Inborn genetic diseases [RCV004627759] | uncertain significance | 4 | 57110159 | 57110159 | Human | 1 | name |
| 597699233 | CV3680168 | single nucleotide variant | NM_001553.3(IGFBP7):c.167C>G (p.Ala56Gly) | Inborn genetic diseases [RCV004987742] | uncertain significance | 4 | 57110185 | 57110185 | Human | 1 | name |
| 598206904 | CV3975711 | single nucleotide variant | NM_001553.3(IGFBP7):c.235G>A (p.Gly79Arg) | Inborn genetic diseases [RCV005337878] | uncertain significance | 4 | 57110117 | 57110117 | Human | 1 | name |
| 151727718 | CV1241991 | single nucleotide variant | NM_001553.3(IGFBP7):c.829G>A (p.Gly277Ser) | Familial retinal arterial macroaneurysm [RCV001844360] | pathogenic | 4 | 57032426 | 57032426 | Human | 1 | name |
| 156244098 | CV2267324 | single nucleotide variant | NM_001553.3(IGFBP7):c.730G>A (p.Gly244Arg) | Inborn genetic diseases [RCV002830707] | uncertain significance | 4 | 57032525 | 57032525 | Human | 1 | name |
| 156005067 | CV2281435 | single nucleotide variant | NM_001553.3(IGFBP7):c.314C>G (p.Pro105Arg) | Inborn genetic diseases [RCV002865700] | uncertain significance | 4 | 57110038 | 57110038 | Human | 1 | name |
| 156259096 | CV2366212 | single nucleotide variant | NM_001553.3(IGFBP7):c.487G>C (p.Val163Leu) | Inborn genetic diseases [RCV003008822] | uncertain significance | 4 | 57040922 | 57040922 | Human | 1 | name |
| 155929952 | CV2369961 | single nucleotide variant | NM_001553.3(IGFBP7):c.370G>A (p.Gly124Ser) | Inborn genetic diseases [RCV002993135] | uncertain significance | 4 | 57109982 | 57109982 | Human | 1 | name |
| 156148038 | CV2377295 | single nucleotide variant | NM_001553.3(IGFBP7):c.841G>A (p.Glu281Lys) | Inborn genetic diseases [RCV002709488] | uncertain significance | 4 | 57031325 | 57031325 | Human | 1 | name |
| 156390637 | CV2383277 | single nucleotide variant | NM_001553.3(IGFBP7):c.310G>A (p.Gly104Ser) | Inborn genetic diseases [RCV002724651] | uncertain significance | 4 | 57110042 | 57110042 | Human | 1 | name |
| 329359273 | CV2450932 | single nucleotide variant | NM_001553.3(IGFBP7):c.723A>C (p.Glu241Asp) | Inborn genetic diseases [RCV003204402] | likely benign | 4 | 57032532 | 57032532 | Human | 1 | name |
| 405286550 | CV3205399 | single nucleotide variant | NM_001553.3(IGFBP7):c.431G>A (p.Gly144Glu) | IGFBP7-related disorder [RCV003959577]|Inborn genetic diseases [RCV004634413] | likely benign|uncertain significance | 4 | 57109921 | 57109921 | Human | 2 | name , trait , alternate_id |
| 405294373 | CV3215310 | single nucleotide variant | NM_001553.3(IGFBP7):c.403G>A (p.Ala135Thr) | IGFBP7-related disorder [RCV003934310] | benign | 4 | 57109949 | 57109949 | Human | | name , trait , alternate_id |
| 407514870 | CV3440771 | single nucleotide variant | NM_001553.3(IGFBP7):c.631G>C (p.Gly211Arg) | Inborn genetic diseases [RCV004627758] | uncertain significance | 4 | 57033266 | 57033266 | Human | 1 | name |
| 407511113 | CV3440773 | single nucleotide variant | NM_001553.3(IGFBP7):c.581A>G (p.Asn194Ser) | Inborn genetic diseases [RCV004626357] | uncertain significance | 4 | 57040828 | 57040828 | Human | 1 | name |
| 597699218 | CV3680166 | single nucleotide variant | NM_001553.3(IGFBP7):c.817C>G (p.Pro273Ala) | Inborn genetic diseases [RCV004987740] | uncertain significance | 4 | 57032438 | 57032438 | Human | 1 | name |
| 597699226 | CV3680167 | single nucleotide variant | NM_001553.3(IGFBP7):c.329T>C (p.Val110Ala) | Inborn genetic diseases [RCV004987741] | uncertain significance | 4 | 57110023 | 57110023 | Human | 1 | name |
| 598269074 | CV3975707 | single nucleotide variant | NM_001553.3(IGFBP7):c.638G>A (p.Arg213Gln) | Inborn genetic diseases [RCV005349831] | uncertain significance | 4 | 57033259 | 57033259 | Human | 1 | name |
| 598269078 | CV3975708 | single nucleotide variant | NM_001553.3(IGFBP7):c.406G>A (p.Ala136Thr) | Inborn genetic diseases [RCV005349832] | uncertain significance | 4 | 57109946 | 57109946 | Human | 1 | name |
| 126737924 | CV1016431 | deletion | NM_001553.3(IGFBP7):c.684del (p.Glu228_Val229insTer) | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis [RCV001328853] | pathogenic | 4 | 57033213 | 57033213 | Human | | name |