| NM_006017.3(PROM1):c.1841del (p.Gly614fs) |
deletion |
Retinitis pigmentosa 41 [RCV000005958] |
Chr4:15992318 [GRCh38]
Chr4:15993941 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) |
single nucleotide variant |
Retinal dystrophy [RCV000210292]|Retinitis pigmentosa 41 [RCV000005959]|Retinitis pigmentosa [RCV000504792] |
Chr4:15994028 [GRCh38]
Chr4:15995651 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000005962]|Macular dystrophy [RCV000787649]|Retinal dystrophy [RCV000504765]|Retinal macular dystrophy type 2 [RCV000005961]|Retinitis pigmentosa [RCV001723543]|Stargardt disease 4 [RCV000005960]|Stargardt disease 4 [RCV002496275]|Stargardt disease [RCV000787648]|not provided [RCV000479499] |
Chr4:16013299 [GRCh38]
Chr4:16014922 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 |
copy number loss |
See cases [RCV000051642] |
Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1 |
pathogenic |
| GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1 |
copy number loss |
See cases [RCV000051220] |
Chr4:14061129..20121834 [GRCh38]
Chr4:14062753..20123457 [GRCh37]
Chr4:13671851..19732555 [NCBI36]
Chr4:4p15.33-15.31 |
pathogenic |
| GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] |
Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2 |
pathogenic |
| GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 |
copy number gain |
See cases [RCV000051753] |
Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1 |
pathogenic |
| GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 |
copy number gain |
See cases [RCV000051757] |
Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14 |
pathogenic |
| GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3 |
copy number gain |
See cases [RCV000051769] |
Chr4:14659764..18274924 [GRCh38]
Chr4:14661388..18276547 [GRCh37]
Chr4:14270486..17885645 [NCBI36]
Chr4:4p15.33-15.31 |
pathogenic |
| GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 |
copy number gain |
See cases [RCV000051755] |
Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2 |
pathogenic |
| GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 |
copy number loss |
See cases [RCV000051679] |
Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32 |
pathogenic |
| NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000341369]|Retinal macular dystrophy type 2 [RCV000398024]|Retinitis pigmentosa [RCV000306230]|Stargardt disease 4 [RCV000347121]|not provided [RCV001515324]|not specified [RCV000173395] |
Chr4:16075852 [GRCh38]
Chr4:16077475 [GRCh37]
Chr4:4p15.32 |
benign|likely benign |
| NM_006017.2(PROM1):c.1164C>T (p.Ser388=) |
single nucleotide variant |
Malignant melanoma [RCV000066309] |
Chr4:16009086 [GRCh38]
Chr4:16010709 [GRCh37]
Chr4:15619807 [NCBI36]
Chr4:4p15.32 |
not provided |
| NM_006017.2(PROM1):c.1163C>T (p.Ser388Phe) |
single nucleotide variant |
Malignant melanoma [RCV000066310] |
Chr4:16009087 [GRCh38]
Chr4:16010710 [GRCh37]
Chr4:15619808 [NCBI36]
Chr4:4p15.32 |
not provided |
| NM_006017.2(PROM1):c.51C>T (p.Ser17=) |
single nucleotide variant |
Malignant melanoma [RCV000066312] |
Chr4:16075856 [GRCh38]
Chr4:16077479 [GRCh37]
Chr4:15686577 [NCBI36]
Chr4:4p15.32 |
not provided |
| NM_006017.3(PROM1):c.1003-6T>G |
single nucleotide variant |
not provided [RCV000081345] |
Chr4:16016246 [GRCh38]
Chr4:16017869 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1977C>T (p.Asn659=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000351307]|Retinal macular dystrophy type 2 [RCV000296436]|Retinitis pigmentosa [RCV000381327]|Stargardt disease 4 [RCV000326660]|not provided [RCV000892544]|not specified [RCV000081346] |
Chr4:15991228 [GRCh38]
Chr4:15992851 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2281-6C>G |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000346832]|Retinal macular dystrophy type 2 [RCV000322412]|Retinitis pigmentosa 41 [RCV001789128]|Retinitis pigmentosa [RCV000377008]|Stargardt disease 4 [RCV000291850]|not provided [RCV000826342]|not specified [RCV000081347] |
Chr4:15984361 [GRCh38]
Chr4:15985984 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.228G>A (p.Leu76=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000362013]|Retinal dystrophy [RCV003888439]|Retinal macular dystrophy type 2 [RCV000337715]|Retinitis pigmentosa [RCV000399220]|Stargardt disease 4 [RCV000302705]|not provided [RCV001518003]|not specified [RCV000081348] |
Chr4:16038994 [GRCh38]
Chr4:16040617 [GRCh37]
Chr4:4p15.32 |
benign|likely benign |
| NM_006017.3(PROM1):c.2320G>A (p.Ala774Thr) |
single nucleotide variant |
not provided [RCV000081349] |
Chr4:15984316 [GRCh38]
Chr4:15985939 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2374-5dup |
duplication |
Cone-Rod Dystrophy, Dominant [RCV000304729]|Macular dystrophy, retinal [RCV000310545]|Retinitis Pigmentosa, Recessive [RCV000264787]|Stargardt Disease, Dominant [RCV000359498]|not provided [RCV000836759]|not specified [RCV000081350] |
Chr4:15980540..15980541 [GRCh38]
Chr4:15982163..15982164 [GRCh37]
Chr4:4p15.32 |
benign|likely benign |
| NM_006017.3(PROM1):c.2374-6T>C |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000281916]|Retinal macular dystrophy type 2 [RCV000385618]|Retinitis pigmentosa 41 [RCV001789129]|Retinitis pigmentosa [RCV000276106]|Stargardt disease 4 [RCV000331161]|not provided [RCV000836688]|not specified [RCV000081351] |
Chr4:15980543 [GRCh38]
Chr4:15982166 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.2374-6delinsCC |
indel |
not provided [RCV000081352] |
Chr4:15980543 [GRCh38]
Chr4:15982166 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV002288584]|PROM1-related disorder [RCV004734647]|Retinal dystrophy [RCV000504778]|not provided [RCV000086959] |
Chr4:16000517 [GRCh38]
Chr4:16002140 [GRCh37]
Chr4:4p15.32 |
pathogenic|not provided |
| NM_006017.3(PROM1):c.1768-5C>T |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000330367]|Retinal macular dystrophy type 2 [RCV000375607]|Retinitis pigmentosa [RCV000336295]|Stargardt disease 4 [RCV000281202]|not provided [RCV000086960]|not specified [RCV000252795] |
Chr4:15992396 [GRCh38]
Chr4:15994019 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|not provided |
| NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) |
single nucleotide variant |
Autosomal recessive retinitis pigmentosa [RCV001257791]|Cone-rod dystrophy 12 [RCV000299552]|Retinal macular dystrophy type 2 [RCV000348573]|Retinitis pigmentosa 41 [RCV000987426]|Retinitis pigmentosa [RCV000390528]|Stargardt disease 4 [RCV000356757]|Stargardt disease 4 [RCV000765766]|not provided [RCV000171375] |
Chr4:16025218 [GRCh38]
Chr4:16026841 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.1863T>G (p.Phe621Leu) |
single nucleotide variant |
not provided [RCV002001781] |
Chr4:15992296 [GRCh38]
Chr4:15993919 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs) |
microsatellite |
Retinal dystrophy [RCV000504956]|Retinitis pigmentosa 41 [RCV000190617]|not provided [RCV001388264] |
Chr4:16009072..16009073 [GRCh38]
Chr4:16010695..16010696 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.1077+6C>G |
single nucleotide variant |
not provided [RCV000906134]|not specified [RCV000180629] |
Chr4:16016160 [GRCh38]
Chr4:16017783 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.134A>G (p.Asp45Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002516583]|not provided [RCV000173393] |
Chr4:16075773 [GRCh38]
Chr4:16077396 [GRCh37]
Chr4:4p15.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.103G>C (p.Glu35Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002517664]|not provided [RCV000173394] |
Chr4:16075804 [GRCh38]
Chr4:16077427 [GRCh37]
Chr4:4p15.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.96G>T (p.Trp32Cys) |
single nucleotide variant |
not provided [RCV000173396] |
Chr4:16075811 [GRCh38]
Chr4:16077434 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1495A>G (p.Ile499Val) |
single nucleotide variant |
not provided [RCV001303023] |
Chr4:16000579 [GRCh38]
Chr4:16002202 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.323G>A (p.Gly108Glu) |
single nucleotide variant |
not provided [RCV001303713] |
Chr4:16033490 [GRCh38]
Chr4:16035113 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1345G>A (p.Val449Met) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001147666]|PROM1-related disorder [RCV004539610]|Retinal macular dystrophy type 2 [RCV001147668]|Retinitis pigmentosa 41 [RCV001535742]|Retinitis pigmentosa [RCV001147667]|Stargardt disease 4 [RCV001151003]|not provided [RCV000724359] |
Chr4:16006647 [GRCh38]
Chr4:16008270 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002516634]|not provided [RCV000174559] |
Chr4:16000605 [GRCh38]
Chr4:16002228 [GRCh37]
Chr4:4p15.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 |
copy number gain |
See cases [RCV000133677] |
Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14 |
pathogenic |
| GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 |
copy number loss |
See cases [RCV000135657] |
Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32 |
pathogenic |
| GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 |
copy number gain |
See cases [RCV000137071] |
Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31 |
pathogenic |
| GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 |
copy number gain |
See cases [RCV000137261] |
Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12 |
pathogenic |
| GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 |
copy number gain |
See cases [RCV000138305] |
Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31 |
pathogenic |
| GRCh38/hg38 4p15.32(chr4:15796371-16062609)x1 |
copy number loss |
See cases [RCV000139323] |
Chr4:15796371..16062609 [GRCh38]
Chr4:15797994..16064232 [GRCh37]
Chr4:15407092..15673330 [NCBI36]
Chr4:4p15.32 |
likely benign |
| GRCh38/hg38 4p15.32(chr4:15868863-16925081)x1 |
copy number loss |
See cases [RCV000140878] |
Chr4:15868863..16925081 [GRCh38]
Chr4:15870486..16926704 [GRCh37]
Chr4:15479584..16535802 [NCBI36]
Chr4:4p15.32 |
uncertain significance |
| GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 |
copy number loss |
See cases [RCV000141502] |
Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32 |
pathogenic |
| GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 |
copy number loss |
See cases [RCV000143713] |
Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31 |
pathogenic |
| NM_006017.3(PROM1):c.1497C>T (p.Ile499=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001150904]|Retinal macular dystrophy type 2 [RCV001144801]|Retinitis pigmentosa [RCV001150902]|Stargardt disease 4 [RCV001150903]|not provided [RCV000757689]|not specified [RCV000153771] |
Chr4:16000577 [GRCh38]
Chr4:16002200 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1090C>T (p.Leu364Phe) |
single nucleotide variant |
PROM1-related disorder [RCV004734721]|not provided [RCV000153772] |
Chr4:16013326 [GRCh38]
Chr4:16014949 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.12:g.16090045C>A |
single nucleotide variant |
Lung cancer [RCV000094251] |
Chr4:16090045 [GRCh38]
Chr4:16091668 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.879C>T (p.Ser293=) |
single nucleotide variant |
not provided [RCV000180293] |
Chr4:16018446 [GRCh38]
Chr4:16020069 [GRCh37]
Chr4:4p15.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.1030A>G (p.Asn344Asp) |
single nucleotide variant |
not provided [RCV000180628] |
Chr4:16016213 [GRCh38]
Chr4:16017836 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2281-5C>G |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000285875]|Retinal macular dystrophy type 2 [RCV000260970]|Retinitis pigmentosa [RCV000316222]|Stargardt disease 4 [RCV000380196]|not provided [RCV001247620] |
Chr4:15984360 [GRCh38]
Chr4:15985983 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.-37C>T |
single nucleotide variant |
Cone-Rod Dystrophy, Dominant [RCV000324335]|Macular dystrophy, retinal [RCV000264638]|Retinitis Pigmentosa, Recessive [RCV000378966]|Stargardt Disease, Dominant [RCV000377929] |
Chr4:16075943 [GRCh38]
Chr4:16077566 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000318837]|Retinal macular dystrophy type 2 [RCV000353914]|Retinitis pigmentosa [RCV000375741]|Stargardt disease 4 [RCV000261335]|not provided [RCV001861228] |
Chr4:15979399 [GRCh38]
Chr4:15981022 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1578+9G>C |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000353950]|Retinal macular dystrophy type 2 [RCV000261455]|Retinitis pigmentosa [RCV000262727]|Stargardt disease 4 [RCV000320164]|not provided [RCV002057918] |
Chr4:16000487 [GRCh38]
Chr4:16002110 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.-168G>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000296943]|Retinal macular dystrophy type 2 [RCV000356355]|Retinitis pigmentosa [RCV000401292]|Stargardt disease 4 [RCV000261622] |
Chr4:16076074 [GRCh38]
Chr4:16077697 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1279T>A (p.Leu427Met) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000324262]|Retinal macular dystrophy type 2 [RCV000265119]|Retinitis pigmentosa [RCV000358025]|Stargardt disease 4 [RCV000266734]|not provided [RCV001241226] |
Chr4:16008971 [GRCh38]
Chr4:16010594 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.718G>A (p.Gly240Arg) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000311752]|Inborn genetic diseases [RCV004649137]|Retinal macular dystrophy type 2 [RCV000262406]|Retinitis pigmentosa [RCV000277700]|Stargardt disease 4 [RCV000368672]|not provided [RCV001350400] |
Chr4:16023392 [GRCh38]
Chr4:16025015 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.-25T>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000354399]|Retinal macular dystrophy type 2 [RCV000313534]|Retinitis pigmentosa [RCV000319521]|Stargardt disease 4 [RCV000259686] |
Chr4:16075931 [GRCh38]
Chr4:16077554 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2077-521A>G |
single nucleotide variant |
Cone-rod dystrophy 2 [RCV000186496]|Retinal dystrophy [RCV001074060] |
Chr4:15988237 [GRCh38]
Chr4:15989860 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000361771]|PROM1-related disorder [RCV004535428]|Retinal dystrophy [RCV003888691]|Retinal macular dystrophy type 2 [RCV000365161]|Retinitis pigmentosa [RCV000303463]|Stargardt disease 4 [RCV000400435]|not provided [RCV000950665]|not specified [RCV000313919] |
Chr4:16018457 [GRCh38]
Chr4:16020080 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000342856]|PROM1-related disorder [RCV004734935]|Retinal macular dystrophy type 2 [RCV000390893]|Retinitis pigmentosa [RCV000303280]|Stargardt disease 4 [RCV000297319]|not provided [RCV000356389] |
Chr4:15991277 [GRCh38]
Chr4:15992900 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.2271C>T (p.Ile757=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000390492]|Retinal macular dystrophy type 2 [RCV000401506]|Retinitis pigmentosa [RCV000352868]|Stargardt disease 4 [RCV000288468]|not provided [RCV000386501] |
Chr4:15985769 [GRCh38]
Chr4:15987392 [GRCh37]
Chr4:4p15.32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 |
copy number loss |
See cases [RCV000203431] |
Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31 |
pathogenic |
| NM_006017.3(PROM1):c.1697del (p.Asn566fs) |
deletion |
Retinal dystrophy [RCV000225407] |
Chr4:15994057 [GRCh38]
Chr4:15995680 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.2309del (p.Pro770fs) |
deletion |
Cone-rod dystrophy 12 [RCV001542528]|Retinal dystrophy [RCV000225433] |
Chr4:15984327 [GRCh38]
Chr4:15985950 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.1141+1G>A |
single nucleotide variant |
Retinal dystrophy [RCV000225496] |
Chr4:16013274 [GRCh38]
Chr4:16014897 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1141+5G>C |
single nucleotide variant |
Retinal dystrophy [RCV000225558] |
Chr4:16013270 [GRCh38]
Chr4:16014893 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.694+4A>T |
single nucleotide variant |
Retinal dystrophy [RCV000225443] |
Chr4:16024291 [GRCh38]
Chr4:16025914 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1632G>T (p.Gly544=) |
single nucleotide variant |
Retinal dystrophy [RCV000225631]|Stargardt disease 4 [RCV000765765]|not provided [RCV000488414] |
Chr4:15998435 [GRCh38]
Chr4:16000058 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1579-1G>C |
single nucleotide variant |
Retinal dystrophy [RCV000225654]|not provided [RCV001388263] |
Chr4:15998489 [GRCh38]
Chr4:16000112 [GRCh37]
Chr4:4p15.32 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.694+1G>A |
single nucleotide variant |
Retinal dystrophy [RCV000225617] |
Chr4:16024294 [GRCh38]
Chr4:16025917 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.914C>T (p.Pro305Leu) |
single nucleotide variant |
not provided [RCV001056391]|not specified [RCV000239347] |
Chr4:16018411 [GRCh38]
Chr4:16020034 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely benign|uncertain significance |
| GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 |
copy number loss |
See cases [RCV000240003] |
Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1 |
pathogenic |
| GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 |
copy number gain |
See cases [RCV000240007] |
Chr4:6447048..20490737 [GRCh37]
Chr4:4p16.1-15.31 |
pathogenic |
| NM_006017.3(PROM1):c.303+6G>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000329200]|Retinal macular dystrophy type 2 [RCV000271856]|Retinitis pigmentosa 41 [RCV001789282]|Retinitis pigmentosa [RCV000321055]|Stargardt disease 4 [RCV000359497]|not provided [RCV000836050]|not specified [RCV000253413] |
Chr4:16035729 [GRCh38]
Chr4:16037352 [GRCh37]
Chr4:4p15.32 |
benign |
| GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
not specified [RCV003986479] |
Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11 |
pathogenic |
| NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000380476]|Retinal dystrophy [RCV003888823]|Retinal macular dystrophy type 2 [RCV000322364]|Retinitis pigmentosa [RCV000283728]|Stargardt disease 4 [RCV000323535]|not provided [RCV000594499] |
Chr4:16000498 [GRCh38]
Chr4:16002121 [GRCh37]
Chr4:4p15.32 |
likely pathogenic|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2364C>T (p.Ile788=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000399730]|Retinal macular dystrophy type 2 [RCV000283949]|Retinitis pigmentosa [RCV000399383]|Stargardt disease 4 [RCV000339031]|not provided [RCV001442000] |
Chr4:15984272 [GRCh38]
Chr4:15985895 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.*1078A>G |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000343278]|Retinal macular dystrophy type 2 [RCV000399307]|Retinitis pigmentosa [RCV000337375]|Stargardt disease 4 [RCV000279953]|not provided [RCV004716173] |
Chr4:15968315 [GRCh38]
Chr4:15969938 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000336904]|Retinal macular dystrophy type 2 [RCV000401671]|Retinitis pigmentosa [RCV000281988]|Stargardt disease 4 [RCV000385701] |
Chr4:15991251 [GRCh38]
Chr4:15992874 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000399717]|PROM1-related disorder [RCV004530408]|Retinal dystrophy [RCV003888825]|Retinal macular dystrophy type 2 [RCV000335053]|Retinitis pigmentosa [RCV000304480]|Stargardt disease 4 [RCV000282344]|not provided [RCV002057919] |
Chr4:16018362 [GRCh38]
Chr4:16019985 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000268102]|Retinal macular dystrophy type 2 [RCV000360430]|Retinitis pigmentosa [RCV000298692]|Stargardt disease 4 [RCV000390262]|not provided [RCV001861231] |
Chr4:16025266 [GRCh38]
Chr4:16026889 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis) |
deletion |
Retinal dystrophy [RCV001075616]|not provided [RCV000487614] |
Chr4:16009021..16009041 [GRCh38]
Chr4:16010644..16010664 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000273932]|Retinal macular dystrophy type 2 [RCV000333734]|Retinitis pigmentosa [RCV000327985]|Stargardt disease 4 [RCV000368597]|not provided [RCV001850847] |
Chr4:16075752 [GRCh38]
Chr4:16077375 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000355970]|Retinal macular dystrophy type 2 [RCV000319916]|Retinitis pigmentosa [RCV000274073]|Stargardt disease 4 [RCV000368747]|not provided [RCV000839749] |
Chr4:15984352 [GRCh38]
Chr4:15985975 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1983+14G>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000324663]|Retinal macular dystrophy type 2 [RCV000355042]|Retinitis pigmentosa [RCV000360716]|Stargardt disease 4 [RCV000260205]|not provided [RCV001511591]|not specified [RCV000244142] |
Chr4:15991208 [GRCh38]
Chr4:15992831 [GRCh37]
Chr4:4p15.32 |
benign|likely benign |
| NM_006017.3(PROM1):c.678G>A (p.Ala226=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000345958]|Retinal dystrophy [RCV003888827]|Retinal macular dystrophy type 2 [RCV000384160]|Retinitis pigmentosa [RCV000376482]|Stargardt disease 4 [RCV000283971]|not provided [RCV000912093] |
Chr4:16024311 [GRCh38]
Chr4:16025934 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000388672]|Retinal dystrophy [RCV003888822]|Retinal macular dystrophy type 2 [RCV000296764]|Retinitis pigmentosa [RCV000331908]|Stargardt disease 4 [RCV000274437]|not provided [RCV001301011] |
Chr4:15979426 [GRCh38]
Chr4:15981049 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.792G>A (p.Lys264=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000317930]|Retinal macular dystrophy type 2 [RCV000386341]|Retinitis pigmentosa [RCV000334145]|Stargardt disease 4 [RCV000274554]|not provided [RCV003766007] |
Chr4:16018533 [GRCh38]
Chr4:16020156 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 |
copy number gain |
See cases [RCV000240562] |
Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11 |
pathogenic |
| NM_006017.3(PROM1):c.1454+15CT[2] |
microsatellite |
not provided [RCV001519118]|not specified [RCV000244489] |
Chr4:16006518..16006519 [GRCh38]
Chr4:16008141..16008142 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.15C>T (p.Leu5=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000312520]|Retinal macular dystrophy type 2 [RCV000367292]|Retinitis pigmentosa [RCV000398887]|Stargardt disease 4 [RCV000277416]|not provided [RCV001512766]|not specified [RCV000249658] |
Chr4:16075892 [GRCh38]
Chr4:16077515 [GRCh37]
Chr4:4p15.32 |
benign|likely benign |
| NM_006017.3(PROM1):c.*1052G>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000328709]|Retinal macular dystrophy type 2 [RCV000306689]|Retinitis pigmentosa [RCV000363732]|Stargardt disease 4 [RCV000271338] |
Chr4:15968341 [GRCh38]
Chr4:15969964 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000265916]|Retinal macular dystrophy type 2 [RCV000384959]|Retinitis pigmentosa [RCV000271855]|Stargardt disease 4 [RCV000320991]|not provided [RCV001225542] |
Chr4:15991223 [GRCh38]
Chr4:15992846 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.786G>A (p.Ala262=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000279196]|Retinal dystrophy [RCV003888660]|Retinal macular dystrophy type 2 [RCV000379416]|Retinitis pigmentosa [RCV000336486]|Stargardt disease 4 [RCV000375986]|not provided [RCV000836779]|not specified [RCV000250373] |
Chr4:16018539 [GRCh38]
Chr4:16020162 [GRCh37]
Chr4:4p15.32 |
benign|likely benign |
| NM_006017.3(PROM1):c.129C>T (p.Thr43=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000388410]|Retinal macular dystrophy type 2 [RCV000375651]|Retinitis pigmentosa [RCV000279950]|Stargardt disease 4 [RCV000316444]|not provided [RCV001509696]|not specified [RCV000252686] |
Chr4:16075778 [GRCh38]
Chr4:16077401 [GRCh37]
Chr4:4p15.32 |
benign|likely benign |
| NM_006017.3(PROM1):c.2281-20_2281-11del |
deletion |
Cone-rod dystrophy 12 [RCV000239774]|Cone-rod dystrophy [RCV002267734] |
Chr4:15984366..15984375 [GRCh38]
Chr4:15985989..15985998 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000240342]|Cone-rod dystrophy [RCV002267733]|Stargardt disease 4 [RCV002247690]|not provided [RCV001390399] |
Chr4:16009093 [GRCh38]
Chr4:16010716 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1911+14G>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000357535]|Retinal macular dystrophy type 2 [RCV000309053]|Retinitis pigmentosa [RCV000363702]|Stargardt disease 4 [RCV000272696]|not provided [RCV001513432] |
Chr4:15992234 [GRCh38]
Chr4:15993857 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.717C>T (p.Gly239=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000324190]|Retinal macular dystrophy type 2 [RCV000266664]|Retinitis pigmentosa [RCV000315947]|Stargardt disease 4 [RCV000372846]|not provided [RCV001454692] |
Chr4:16023393 [GRCh38]
Chr4:16025016 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.*84del |
deletion |
Cone-Rod Dystrophy, Dominant [RCV000302181]|Macular dystrophy, retinal [RCV000266972]|Retinitis Pigmentosa, Recessive [RCV000359246]|Stargardt Disease, Dominant [RCV000305762] |
Chr4:15969309 [GRCh38]
Chr4:15970932 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.843C>T (p.His281=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000276686]|Retinal macular dystrophy type 2 [RCV000307126]|Retinitis pigmentosa [RCV000273099]|Stargardt disease 4 [RCV000364245]|not provided [RCV002057920] |
Chr4:16018482 [GRCh38]
Chr4:16020105 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.181A>G (p.Ile61Val) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000273204]|Retinal macular dystrophy type 2 [RCV000308324]|Retinitis pigmentosa [RCV000400360]|Stargardt disease 4 [RCV000363045]|not provided [RCV001439949] |
Chr4:16075726 [GRCh38]
Chr4:16077349 [GRCh37]
Chr4:4p15.32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.*684C>T |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000316805]|Retinal macular dystrophy type 2 [RCV000278098]|Retinitis pigmentosa [RCV000373870]|Stargardt disease 4 [RCV000281713] |
Chr4:15968709 [GRCh38]
Chr4:15970332 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1579-6T>C |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000369060]|Retinal macular dystrophy type 2 [RCV000277946]|Retinitis pigmentosa [RCV000314370]|Stargardt disease 4 [RCV000363164]|not provided [RCV000956181] |
Chr4:15998494 [GRCh38]
Chr4:16000117 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.276+15G>T |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000278099]|Retinal macular dystrophy type 2 [RCV000295776]|Retinitis pigmentosa [RCV000394477]|Stargardt disease 4 [RCV000350668] |
Chr4:16038931 [GRCh38]
Chr4:16040554 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2211+7C>T |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000391793]|Retinal macular dystrophy type 2 [RCV000366791]|Retinitis pigmentosa [RCV000300221]|Stargardt disease 4 [RCV000312096]|not provided [RCV001455863] |
Chr4:15985950 [GRCh38]
Chr4:15987573 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.-148G>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000314617]|Retinal macular dystrophy type 2 [RCV000396125]|Retinitis pigmentosa [RCV000350732]|Stargardt disease 4 [RCV000350327] |
Chr4:16076054 [GRCh38]
Chr4:16077677 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1683-3C>T |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000302494]|Retinal macular dystrophy type 2 [RCV000398666]|Retinitis pigmentosa [RCV000348076]|Stargardt disease 4 [RCV000308385]|not provided [RCV000886518] |
Chr4:15994074 [GRCh38]
Chr4:15995697 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.631-14T>C |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000314928]|Retinal macular dystrophy type 2 [RCV000287975]|Retinitis pigmentosa [RCV000396849]|Stargardt disease 4 [RCV000345306]|Stargardt disease 4 [RCV002502339]|not provided [RCV001518834] |
Chr4:16024372 [GRCh38]
Chr4:16025995 [GRCh37]
Chr4:4p15.32 |
benign|likely benign |
| NM_006017.3(PROM1):c.277-15C>T |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000332880]|Retinal macular dystrophy type 2 [RCV000381583]|Retinitis pigmentosa [RCV000389815]|Stargardt disease 4 [RCV000289511]|not provided [RCV002057921] |
Chr4:16035776 [GRCh38]
Chr4:16037399 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2508G>A (p.Met836Ile) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000344815]|Retinal macular dystrophy type 2 [RCV000339072]|Retinitis pigmentosa [RCV000291042]|Stargardt disease 4 [RCV000383008] |
Chr4:15979886 [GRCh38]
Chr4:15981509 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000291776]|Retinal macular dystrophy type 2 [RCV000344405]|Retinitis pigmentosa [RCV000400713]|Stargardt disease 4 [RCV000383774]|not provided [RCV001510571] |
Chr4:16000583 [GRCh38]
Chr4:16002206 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000398824]|Retinal dystrophy [RCV003888826]|Retinal macular dystrophy type 2 [RCV000347822]|Retinitis pigmentosa [RCV000369682]|Stargardt disease 4 [RCV000308028]|not provided [RCV001300200] |
Chr4:16023379 [GRCh38]
Chr4:16025002 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2309C>A (p.Pro770His) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000314748]|PROM1-related disorder [RCV004544649]|Retinal macular dystrophy type 2 [RCV000393001]|Retinitis pigmentosa [RCV000363627]|Stargardt disease 4 [RCV000308984]|not provided [RCV001518533] |
Chr4:15984327 [GRCh38]
Chr4:15985950 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.*667A>C |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000348387]|Retinal macular dystrophy type 2 [RCV000352014]|Retinitis pigmentosa [RCV000386635]|Stargardt disease 4 [RCV000294834]|not provided [RCV001660729] |
Chr4:15968726 [GRCh38]
Chr4:15970349 [GRCh37]
Chr4:4p15.32 |
benign|likely benign |
| NM_006017.3(PROM1):c.1377C>T (p.Gly459=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000352517]|Retinal macular dystrophy type 2 [RCV000295344]|Retinitis pigmentosa [RCV000401437]|Stargardt disease 4 [RCV000312842]|not provided [RCV001861230] |
Chr4:16006615 [GRCh38]
Chr4:16008238 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1344C>T (p.Ile448=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000354443]|PROM1-related disorder [RCV004530407]|Retinal dystrophy [RCV003888824]|Retinal macular dystrophy type 2 [RCV000407818]|Retinitis pigmentosa [RCV000297263]|Stargardt disease 4 [RCV000355570]|not provided [RCV000998227] |
Chr4:16006648 [GRCh38]
Chr4:16008271 [GRCh37]
Chr4:4p15.32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.105A>G (p.Glu35=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000340399]|Retinal macular dystrophy type 2 [RCV000280677]|Retinitis pigmentosa [RCV000398030]|Stargardt disease 4 [RCV000286424] |
Chr4:16075802 [GRCh38]
Chr4:16077425 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2374-14dup |
duplication |
Cone-Rod Dystrophy, Dominant [RCV000325557]|Macular dystrophy, retinal [RCV000365045]|Retinitis Pigmentosa, Recessive [RCV000389475]|Stargardt Disease, Dominant [RCV000270462]|not provided [RCV000948275] |
Chr4:15980542..15980543 [GRCh38]
Chr4:15982165..15982166 [GRCh37]
Chr4:4p15.32 |
benign|uncertain significance |
| NM_006017.3(PROM1):c.321A>C (p.Ala107=) |
single nucleotide variant |
not provided [RCV000308326] |
Chr4:16033492 [GRCh38]
Chr4:16035115 [GRCh37]
Chr4:4p15.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.*963A>G |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000323028]|Retinal macular dystrophy type 2 [RCV000358063]|Retinitis pigmentosa [RCV000265688]|Stargardt disease 4 [RCV000380018] |
Chr4:15968430 [GRCh38]
Chr4:15970053 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2373+13C>G |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000373139]|Retinal macular dystrophy type 2 [RCV000342928]|Retinitis pigmentosa [RCV000278589]|Stargardt disease 4 [RCV000318449] |
Chr4:15984250 [GRCh38]
Chr4:15985873 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000269012]|Retinal macular dystrophy type 2 [RCV000333496]|Retinitis pigmentosa [RCV000274850]|Stargardt disease 4 [RCV000387939] |
Chr4:15992288 [GRCh38]
Chr4:15993911 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2319C>T (p.Thr773=) |
single nucleotide variant |
not provided [RCV000487690] |
Chr4:15984317 [GRCh38]
Chr4:15985940 [GRCh37]
Chr4:4p15.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV003236583]|Cone-rod dystrophy [RCV001199723]|Retinitis pigmentosa 41 [RCV003338612]|Stargardt disease 4 [RCV000765764]|not provided [RCV000487979] |
Chr4:15991259 [GRCh38]
Chr4:15992882 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 |
copy number gain |
FETAL DEMISE [RCV002282978] |
Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12 |
pathogenic |
| NM_006017.3(PROM1):c.1218C>G (p.Leu406=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000388013]|Retinal macular dystrophy type 2 [RCV000295982]|Retinitis pigmentosa [RCV000394593]|Stargardt disease 4 [RCV000348661]|not provided [RCV001504867] |
Chr4:16009032 [GRCh38]
Chr4:16010655 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.*551A>T |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000308271]|Retinal macular dystrophy type 2 [RCV000408241]|Retinitis pigmentosa [RCV000400044]|Stargardt disease 4 [RCV000346622] |
Chr4:15968842 [GRCh38]
Chr4:15970465 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.*1160A>G |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000320454]|Retinal macular dystrophy type 2 [RCV000377430]|Retinitis pigmentosa [RCV000285990]|Stargardt disease 4 [RCV000291140] |
Chr4:15968233 [GRCh38]
Chr4:15969856 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000372017]|Retinal macular dystrophy type 2 [RCV000399513]|Retinitis pigmentosa [RCV000287085]|Stargardt disease 4 [RCV000342027]|not provided [RCV001861229] |
Chr4:15994037 [GRCh38]
Chr4:15995660 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.785-11T>G |
single nucleotide variant |
Cone-Rod Dystrophy, Dominant [RCV000287210]|Macular dystrophy, retinal [RCV000339818]|Retinitis Pigmentosa, Recessive [RCV000309550]|Stargardt Disease, Dominant [RCV000401786] |
Chr4:16018551 [GRCh38]
Chr4:16020174 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000327805]|Retinal macular dystrophy type 2 [RCV000287882]|Retinitis pigmentosa [RCV000384644]|Stargardt disease 4 [RCV000326558] |
Chr4:16008979 [GRCh38]
Chr4:16010602 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2480T>C (p.Val827Ala) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000298975]|Retinal macular dystrophy type 2 [RCV000335189]|Retinitis pigmentosa [RCV000392496]|Stargardt disease 4 [RCV000401717]|not provided [RCV003542299] |
Chr4:15980431 [GRCh38]
Chr4:15982054 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.*1070A>G |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000368634]|Retinal macular dystrophy type 2 [RCV000407525]|Retinitis pigmentosa [RCV000311499]|Stargardt disease 4 [RCV000407588] |
Chr4:15968323 [GRCh38]
Chr4:15969946 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.-127A>G |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000290663]|Retinal macular dystrophy type 2 [RCV000289358]|Retinitis pigmentosa [RCV000384989]|Stargardt disease 4 [RCV000344310]|Stargardt disease 4 [RCV002480212] |
Chr4:16076033 [GRCh38]
Chr4:16077656 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.97A>G (p.Asn33Asp) |
single nucleotide variant |
not provided [RCV000592517] |
Chr4:16075810 [GRCh38]
Chr4:16077433 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.524A>G (p.Tyr175Cys) |
single nucleotide variant |
not provided [RCV000592738]|not specified [RCV001000733] |
Chr4:16025298 [GRCh38]
Chr4:16026921 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1234del (p.Tyr412fs) |
deletion |
PROM1-related disorder [RCV004530703]|Retinal dystrophy [RCV001074705]|not provided [RCV000591097] |
Chr4:16009016 [GRCh38]
Chr4:16010639 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002536520]|not provided [RCV000734444] |
Chr4:15998457 [GRCh38]
Chr4:16000080 [GRCh37]
Chr4:4p15.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.2(PROM1):c.(1578+1_1579-1)_(1911+1_1912-1)del |
deletion |
Retinal dystrophy [RCV000416309] |
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.1077+1G>C |
single nucleotide variant |
not provided [RCV000734753] |
Chr4:16016165 [GRCh38]
Chr4:16017788 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) |
duplication |
Autosomal recessive retinitis pigmentosa [RCV001257789]|Cone-rod dystrophy 12 [RCV000761312]|Cone-rod dystrophy 2 [RCV001255712]|PROM1-related disorder [RCV000779436]|Retinal dystrophy [RCV000505153]|Retinitis pigmentosa 41 [RCV000987422]|Retinitis pigmentosa [RCV001003127]|Stargardt disease [RCV002467446]|not provided [RCV000413568] |
Chr4:16006637..16006638 [GRCh38]
Chr4:16008260..16008261 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.2211+30C>T |
single nucleotide variant |
not provided [RCV001545372] |
Chr4:15985927 [GRCh38]
Chr4:15987550 [GRCh37]
Chr4:4p15.32 |
likely benign |
| GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 |
copy number loss |
See cases [RCV000449197] |
Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31 |
pathogenic |
| NM_006017.3(PROM1):c.622del (p.Thr208fs) |
deletion |
Retinal dystrophy [RCV001073994]|Retinitis pigmentosa 41 [RCV000454283]|not provided [RCV001048594] |
Chr4:16025200 [GRCh38]
Chr4:16026823 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 |
copy number gain |
See cases [RCV000446451] |
Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001147772]|Retinal macular dystrophy type 2 [RCV001147773]|Retinitis pigmentosa [RCV001147774]|Stargardt disease 4 [RCV001151114]|not provided [RCV000431346] |
Chr4:16009051 [GRCh38]
Chr4:16010674 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.436C>T (p.Arg146Ter) |
single nucleotide variant |
Retinal dystrophy [RCV000504986]|Retinitis pigmentosa 41 [RCV000987427]|not provided [RCV001865639] |
Chr4:16033377 [GRCh38]
Chr4:16035000 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1002+5G>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001145013]|Retinal dystrophy [RCV000505134]|Retinal macular dystrophy type 2 [RCV001145014]|Retinitis pigmentosa [RCV001145015]|Stargardt disease 4 [RCV001146960] |
Chr4:16018318 [GRCh38]
Chr4:16019941 [GRCh37]
Chr4:4p15.32 |
likely pathogenic|uncertain significance |
| NM_006017.3(PROM1):c.730C>T (p.Arg244Ter) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV003236584]|Retinal dystrophy [RCV000504621]|not provided [RCV001857223] |
Chr4:16023380 [GRCh38]
Chr4:16025003 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1710C>A (p.Tyr570Ter) |
single nucleotide variant |
Retinitis pigmentosa [RCV000504677]|not provided [RCV001857222] |
Chr4:15994044 [GRCh38]
Chr4:15995667 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 |
copy number loss |
See cases [RCV000510662] |
Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 |
copy number gain |
See cases [RCV000511193] |
Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1 |
pathogenic |
| GRCh37/hg19 4p15.32(chr4:15974221-16897124)x3 |
copy number gain |
See cases [RCV000510880] |
Chr4:15974221..16897124 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| GRCh37/hg19 4p15.32(chr4:15836236-16942209)x3 |
copy number gain |
See cases [RCV000510810] |
Chr4:15836236..16942209 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2189A>G (p.Asn730Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003292505]|Retinal dystrophy [RCV003889292] |
Chr4:15985979 [GRCh38]
Chr4:15987602 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NM_006017.3(PROM1):c.1578+1G>A |
single nucleotide variant |
Cone-rod dystrophy [RCV001199726]|Retinal dystrophy [RCV003889918]|not provided [RCV000513607] |
Chr4:16000495 [GRCh38]
Chr4:16002118 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.85C>T (p.Pro29Ser) |
single nucleotide variant |
Retinal dystrophy [RCV003889942]|not provided [RCV000658995] |
Chr4:16075822 [GRCh38]
Chr4:16077445 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.533T>C (p.Val178Ala) |
single nucleotide variant |
not provided [RCV000658994] |
Chr4:16025289 [GRCh38]
Chr4:16026912 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1983+5G>T |
single nucleotide variant |
Usher syndrome [RCV000678601]|not provided [RCV003565438] |
Chr4:15991217 [GRCh38]
Chr4:15992840 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter) |
single nucleotide variant |
Usher syndrome [RCV000678600] |
Chr4:16000612 [GRCh38]
Chr4:16002235 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.262dup (p.Ile88fs) |
duplication |
Cone-rod dystrophy 12 [RCV000678603] |
Chr4:16038959..16038960 [GRCh38]
Chr4:16040582..16040583 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2450A>G (p.Lys817Arg) |
single nucleotide variant |
Retinitis pigmentosa 41 [RCV000678602]|not provided [RCV002298735] |
Chr4:15980461 [GRCh38]
Chr4:15982084 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
not provided [RCV000682363] |
Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11 |
pathogenic |
| GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 |
copy number loss |
not provided [RCV000682373] |
Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1 |
pathogenic |
| NM_006017.3(PROM1):c.456C>G (p.Pro152=) |
single nucleotide variant |
not provided [RCV001470779]|not specified [RCV001000893] |
Chr4:16033357 [GRCh38]
Chr4:16034980 [GRCh37]
Chr4:4p15.32 |
likely benign |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 |
copy number gain |
not provided [RCV000743201] |
Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11 |
pathogenic |
| GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 |
copy number gain |
not provided [RCV000743154] |
Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12 |
pathogenic |
| NM_006017.3(PROM1):c.1768-4G>A |
single nucleotide variant |
not provided [RCV000979322] |
Chr4:15992395 [GRCh38]
Chr4:15994018 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2582+43C>T |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001789547]|Retinal macular dystrophy type 2 [RCV001789546]|Retinitis pigmentosa 41 [RCV001789544]|Stargardt disease 4 [RCV001789545]|not provided [RCV001709322] |
Chr4:15979352 [GRCh38]
Chr4:15980975 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1301+2T>C |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV000761332]|Cone-rod dystrophy [RCV001199727]|Retinitis pigmentosa 41 [RCV001592948]|not provided [RCV001093373] |
Chr4:16008947 [GRCh38]
Chr4:16010570 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.1136T>C (p.Val379Ala) |
single nucleotide variant |
not provided [RCV000762094] |
Chr4:16013280 [GRCh38]
Chr4:16014903 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.83C>A (p.Ala28Asp) |
single nucleotide variant |
not provided [RCV000762095] |
Chr4:16075824 [GRCh38]
Chr4:16077447 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2514-4A>G |
single nucleotide variant |
not provided [RCV000762137] |
Chr4:15979467 [GRCh38]
Chr4:15981090 [GRCh37]
Chr4:4p15.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.1577G>A (p.Arg526Gln) |
single nucleotide variant |
not provided [RCV000762138] |
Chr4:16000497 [GRCh38]
Chr4:16002120 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002550601]|Retinitis pigmentosa 41 [RCV000987421]|not provided [RCV001220696] |
Chr4:15992379 [GRCh38]
Chr4:15994002 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2373+84T>G |
single nucleotide variant |
not provided [RCV001708035] |
Chr4:15984179 [GRCh38]
Chr4:15985802 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001146664]|Retinal dystrophy [RCV003890297]|Retinal macular dystrophy type 2 [RCV001144701]|Retinitis pigmentosa [RCV001144702]|Stargardt disease 4 [RCV001144703]|not provided [RCV002557089] |
Chr4:15994044 [GRCh38]
Chr4:15995667 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.906C>T (p.Leu302=) |
single nucleotide variant |
not provided [RCV000998229] |
Chr4:16018419 [GRCh38]
Chr4:16020042 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.304-98dup |
duplication |
not provided [RCV001692878] |
Chr4:16033586..16033587 [GRCh38]
Chr4:16035209..16035210 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.*1149A>G |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001148168]|Retinal macular dystrophy type 2 [RCV001149730]|Retinitis pigmentosa [RCV001148169]|Stargardt disease 4 [RCV001148170] |
Chr4:15968244 [GRCh38]
Chr4:15969867 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1003-97T>C |
single nucleotide variant |
not provided [RCV001681858] |
Chr4:16016337 [GRCh38]
Chr4:16017960 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1751A>G (p.His584Arg) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001150812]|PROM1-related disorder [RCV004535951]|Retinal macular dystrophy type 2 [RCV001150810]|Retinitis pigmentosa [RCV001150809]|Stargardt disease 4 [RCV001150811]|not provided [RCV000969187] |
Chr4:15994003 [GRCh38]
Chr4:15995626 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1194G>A (p.Gln398=) |
single nucleotide variant |
not provided [RCV000881222] |
Chr4:16009056 [GRCh38]
Chr4:16010679 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1576C>G (p.Arg526Gly) |
single nucleotide variant |
Retinal dystrophy [RCV001075274] |
Chr4:16000498 [GRCh38]
Chr4:16002121 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1697dup (p.Asn566fs) |
duplication |
Retinal dystrophy [RCV001075408]|not provided [RCV001862849] |
Chr4:15994056..15994057 [GRCh38]
Chr4:15995679..15995680 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001145008]|Retinal macular dystrophy type 2 [RCV001151120]|Retinitis pigmentosa [RCV001151121]|Stargardt disease 4 [RCV001151119]|not provided [RCV001044541] |
Chr4:16009098 [GRCh38]
Chr4:16010721 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2590C>T (p.Gln864Ter) |
single nucleotide variant |
not provided [RCV001067541] |
Chr4:15971075 [GRCh38]
Chr4:15972698 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) |
copy number loss |
not provided [RCV000767707] |
Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1 |
pathogenic |
| NC_000004.12:g.(?_16075687)_(16075906_?)del |
deletion |
not provided [RCV001033490] |
Chr4:16077310..16077529 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2472G>A (p.Ser824=) |
single nucleotide variant |
not provided [RCV001047040] |
Chr4:15980439 [GRCh38]
Chr4:15982062 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NC_000004.12:g.(?_16048828)_(16075906_?)del |
deletion |
not provided [RCV001032002] |
Chr4:16050451..16077529 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.303+1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001073433]|not provided [RCV001066624] |
Chr4:16035734 [GRCh38]
Chr4:16037357 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.1139C>T (p.Ala380Val) |
single nucleotide variant |
Retinal dystrophy [RCV001073902]|not provided [RCV002554690] |
Chr4:16013277 [GRCh38]
Chr4:16014900 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1579-2A>C |
single nucleotide variant |
Retinal dystrophy [RCV001073944]|not provided [RCV001244457] |
Chr4:15998490 [GRCh38]
Chr4:16000113 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.695-6A>G |
single nucleotide variant |
Retinal dystrophy [RCV001073979]|not provided [RCV001483536] |
Chr4:16023421 [GRCh38]
Chr4:16025044 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1768-4G>T |
single nucleotide variant |
Retinal dystrophy [RCV001074047]|not provided [RCV002067733] |
Chr4:15992395 [GRCh38]
Chr4:15994018 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro) |
single nucleotide variant |
Retinal dystrophy [RCV001074064]|Stargardt disease 4 [RCV002482152]|not provided [RCV001092551] |
Chr4:15980465 [GRCh38]
Chr4:15982088 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.12:g.(?_16016166)_(16075906_?)dup |
duplication |
not provided [RCV001033765] |
Chr4:16017789..16077529 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2479G>A (p.Val827Met) |
single nucleotide variant |
Retinal dystrophy [RCV001075108]|not provided [RCV002554743] |
Chr4:15980432 [GRCh38]
Chr4:15982055 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1229_1230del (p.Ser410fs) |
microsatellite |
PROM1-related disorder [RCV000779437] |
Chr4:16009020..16009021 [GRCh38]
Chr4:16010643..16010644 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.12:g.8398067_17505522inv |
inversion |
Dihydropteridine reductase deficiency [RCV000768549] |
Chr4:8398067..17505522 [GRCh38]
Chr4:4p16.1-15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys) |
single nucleotide variant |
Retinal dystrophy [RCV001075504]|Retinitis pigmentosa [RCV000787917]|not provided [RCV001058099] |
Chr4:15987683 [GRCh38]
Chr4:15989306 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic|uncertain significance |
| NM_006017.3(PROM1):c.303+10T>G |
single nucleotide variant |
not provided [RCV000925682] |
Chr4:16035725 [GRCh38]
Chr4:16037348 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.921C>T (p.Cys307=) |
single nucleotide variant |
not provided [RCV000982506] |
Chr4:16018404 [GRCh38]
Chr4:16020027 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1128G>A (p.Thr376=) |
single nucleotide variant |
not provided [RCV000909771] |
Chr4:16013288 [GRCh38]
Chr4:16014911 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1142-1G>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001352977]|Retinal dystrophy [RCV001075075]|Retinal macular dystrophy type 2 [RCV003987756]|Stargardt disease 4 [RCV002497313]|not provided [RCV000998228] |
Chr4:16009109 [GRCh38]
Chr4:16010732 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.677C>T (p.Ala226Val) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001147962]|Retinal macular dystrophy type 2 [RCV001149511]|Retinitis pigmentosa [RCV001147963]|Stargardt disease 4 [RCV001147961]|not provided [RCV000998230] |
Chr4:16024312 [GRCh38]
Chr4:16025935 [GRCh37]
Chr4:4p15.32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) |
single nucleotide variant |
Retinal dystrophy [RCV003889979]|Retinitis pigmentosa 41 [RCV000784975]|not provided [RCV001093370] |
Chr4:15989758 [GRCh38]
Chr4:15991381 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2130+95G>A |
single nucleotide variant |
not provided [RCV000836737] |
Chr4:15987568 [GRCh38]
Chr4:15989191 [GRCh37]
Chr4:4p15.32 |
benign |
| NC_000004.12:g.15984361G>C |
single nucleotide variant |
not provided [RCV000826342] |
Chr4:15985984 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1911+8G>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001146547]|Retinal macular dystrophy type 2 [RCV001149316]|Retinitis pigmentosa [RCV000787863]|Stargardt disease 4 [RCV001146548]|not provided [RCV000895051] |
Chr4:15992240 [GRCh38]
Chr4:15993863 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV003225955]|Retinitis pigmentosa [RCV000787650]|not provided [RCV001388262] |
Chr4:15980450 [GRCh38]
Chr4:15982073 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NC_000004.12:g.16035729C>T |
single nucleotide variant |
not provided [RCV000836050] |
Chr4:16037352 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.*640T>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001148385]|Retinal macular dystrophy type 2 [RCV001147456]|Retinitis pigmentosa [RCV001147457]|Stargardt disease 4 [RCV001147455] |
Chr4:15968753 [GRCh38]
Chr4:15970376 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001149625]|Retinal macular dystrophy type 2 [RCV001149626]|Retinitis pigmentosa [RCV001149624]|Stargardt disease 4 [RCV001149627] |
Chr4:16038972 [GRCh38]
Chr4:16040595 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1407G>A (p.Pro469=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001146764]|Retinal dystrophy [RCV003890301]|Retinal macular dystrophy type 2 [RCV001146765]|Retinitis pigmentosa [RCV001146763]|Stargardt disease 4 [RCV001146762]|not provided [RCV001442163] |
Chr4:16006585 [GRCh38]
Chr4:16008208 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1984-1G>T |
single nucleotide variant |
Cone-rod dystrophy [RCV003324540]|Leber congenital amaurosis [RCV003324541]|PROM1-related disorder [RCV004536013]|Retinitis pigmentosa 41 [RCV000987420]|Stargardt disease [RCV002467454]|not provided [RCV001049161] |
Chr4:15989825 [GRCh38]
Chr4:15991448 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.784+1G>A |
single nucleotide variant |
Leber congenital amaurosis [RCV003324543]|Retinal dystrophy [RCV001075553]|Retinitis pigmentosa 41 [RCV000987424]|Stargardt disease [RCV002466264]|not provided [RCV001047807] |
Chr4:16023325 [GRCh38]
Chr4:16024948 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001198630]|Retinitis pigmentosa 41 [RCV000987425]|not provided [RCV001383311] |
Chr4:16024337 [GRCh38]
Chr4:16025960 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 |
copy number loss |
See cases [RCV001007422] |
Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2 |
pathogenic |
| NM_006017.3(PROM1):c.1387T>C (p.Tyr463His) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001146766]|Retinal macular dystrophy type 2 [RCV001146767]|Retinitis pigmentosa [RCV001146768]|Stargardt disease 4 [RCV001147665] |
Chr4:16006605 [GRCh38]
Chr4:16008228 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.784+64T>C |
single nucleotide variant |
not provided [RCV000836687] |
Chr4:16023262 [GRCh38]
Chr4:16024885 [GRCh37]
Chr4:4p15.32 |
benign |
| NC_000004.12:g.15980543A>G |
single nucleotide variant |
not provided [RCV000836688] |
Chr4:15982166 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1578+69A>G |
single nucleotide variant |
not provided [RCV000836736] |
Chr4:16000427 [GRCh38]
Chr4:16002050 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.2281-64C>T |
single nucleotide variant |
not provided [RCV000836738] |
Chr4:15984419 [GRCh38]
Chr4:15986042 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.2094C>T (p.Ser698=) |
single nucleotide variant |
not provided [RCV000919293] |
Chr4:15987699 [GRCh38]
Chr4:15989322 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2112C>T (p.Arg704=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001146426]|Retinal macular dystrophy type 2 [RCV001146425]|Retinitis pigmentosa [RCV001146427]|Stargardt disease 4 [RCV001146424]|Stargardt disease [RCV000844932]|not provided [RCV000908779] |
Chr4:15987681 [GRCh38]
Chr4:15989304 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance|not provided |
| NC_000004.12:g.15980541dup |
duplication |
not provided [RCV000836759] |
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.630+2T>A |
single nucleotide variant |
Retinal dystrophy [RCV001075335]|Retinitis pigmentosa [RCV000787651] |
Chr4:16025190 [GRCh38]
Chr4:16026813 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.2489+8T>C |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001150065]|Retinal macular dystrophy type 2 [RCV001148499]|Retinitis pigmentosa [RCV001148497]|Stargardt disease 4 [RCV001148498] |
Chr4:15980414 [GRCh38]
Chr4:15982037 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.*198T>C |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001149948]|Retinal macular dystrophy type 2 [RCV001149946]|Retinitis pigmentosa [RCV001149947]|Stargardt disease 4 [RCV001149945] |
Chr4:15969195 [GRCh38]
Chr4:15970818 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2387T>A (p.Phe796Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004031620]|not provided [RCV001051890] |
Chr4:15980524 [GRCh38]
Chr4:15982147 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001149203]|PROM1-related disorder [RCV004734032]|Retinal macular dystrophy type 2 [RCV001146429]|Retinitis pigmentosa [RCV001146430]|Stargardt disease 4 [RCV001146428]|not provided [RCV001229010] |
Chr4:15987699 [GRCh38]
Chr4:15989322 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1738A>C (p.Asn580His) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001144700]|Retinal dystrophy [RCV003890296]|Retinal macular dystrophy type 2 [RCV001150814]|Retinitis pigmentosa [RCV001150815]|Stargardt disease 4 [RCV001150813]|not provided [RCV001300999] |
Chr4:15994016 [GRCh38]
Chr4:15995639 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1856A>G (p.Gln619Arg) |
single nucleotide variant |
not provided [RCV000998225] |
Chr4:15992303 [GRCh38]
Chr4:15993926 [GRCh37]
Chr4:4p15.32 |
likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 |
copy number gain |
not provided [RCV001005510] |
Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2 |
pathogenic |
| NM_006017.3(PROM1):c.869del (p.Ser290fs) |
deletion |
Cone-rod dystrophy [RCV003324542]|Retinitis pigmentosa 41 [RCV000987423]|not provided [RCV001858666] |
Chr4:16018456 [GRCh38]
Chr4:16020079 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1301+11C>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001151006]|Retinal macular dystrophy type 2 [RCV001151004]|Retinitis pigmentosa [RCV001144910]|Stargardt disease 4 [RCV001151005] |
Chr4:16008938 [GRCh38]
Chr4:16010561 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1301+10T>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001144914]|Retinal macular dystrophy type 2 [RCV001144912]|Retinitis pigmentosa [RCV001144911]|Stargardt disease 4 [RCV001144913] |
Chr4:16008939 [GRCh38]
Chr4:16010562 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001145315]|Retinal dystrophy [RCV003890299]|Retinal macular dystrophy type 2 [RCV001145317]|Retinitis pigmentosa [RCV001145316]|Stargardt disease 4 [RCV001147260]|not provided [RCV001366102] |
Chr4:16075749 [GRCh38]
Chr4:16077372 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.*781G>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001149842]|Retinal macular dystrophy type 2 [RCV001145504]|Retinitis pigmentosa [RCV001149844]|Stargardt disease 4 [RCV001149843] |
Chr4:15968612 [GRCh38]
Chr4:15970235 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1767+4A>G |
single nucleotide variant |
Isolated macular dystrophy [RCV001199728] |
Chr4:15993983 [GRCh38]
Chr4:15995606 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.89A>G (p.Lys30Arg) |
single nucleotide variant |
not provided [RCV001233243] |
Chr4:16075818 [GRCh38]
Chr4:16077441 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1682+3A>G |
single nucleotide variant |
Retinitis pigmentosa 41 [RCV003483804]|not provided [RCV001240494] |
Chr4:15998382 [GRCh38]
Chr4:16000005 [GRCh37]
Chr4:4p15.32 |
pathogenic|not provided |
| NM_006017.3(PROM1):c.2281-2A>G |
single nucleotide variant |
Retinitis pigmentosa 41 [RCV003483805]|not provided [RCV001240495] |
Chr4:15984357 [GRCh38]
Chr4:15985980 [GRCh37]
Chr4:4p15.32 |
likely pathogenic|not provided |
| NM_006017.3(PROM1):c.847C>A (p.Gln283Lys) |
single nucleotide variant |
not provided [RCV001240496] |
Chr4:16018478 [GRCh38]
Chr4:16020101 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1301+3G>A |
single nucleotide variant |
PROM1-related disorder [RCV004538442]|not provided [RCV001204990] |
Chr4:16008946 [GRCh38]
Chr4:16010569 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2340T>G (p.Asp780Glu) |
single nucleotide variant |
not provided [RCV001240747] |
Chr4:15984296 [GRCh38]
Chr4:15985919 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.149G>A (p.Gly50Glu) |
single nucleotide variant |
not provided [RCV001222847] |
Chr4:16075758 [GRCh38]
Chr4:16077381 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2111G>A (p.Arg704His) |
single nucleotide variant |
not provided [RCV001224497] |
Chr4:15987682 [GRCh38]
Chr4:15989305 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1834G>A (p.Ala612Thr) |
single nucleotide variant |
not provided [RCV001206215] |
Chr4:15992325 [GRCh38]
Chr4:15993948 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2471C>T (p.Ser824Leu) |
single nucleotide variant |
not provided [RCV001209225] |
Chr4:15980440 [GRCh38]
Chr4:15982063 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1796A>T (p.Glu599Val) |
single nucleotide variant |
not provided [RCV001242110] |
Chr4:15992363 [GRCh38]
Chr4:15993986 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1778G>A (p.Ser593Asn) |
single nucleotide variant |
not provided [RCV001242134] |
Chr4:15992381 [GRCh38]
Chr4:15994004 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1455-1G>A |
single nucleotide variant |
not provided [RCV001207406] |
Chr4:16000620 [GRCh38]
Chr4:16002243 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.2362_2372del (p.Ile788fs) |
deletion |
not provided [RCV001207407] |
Chr4:15984264..15984274 [GRCh38]
Chr4:15985887..15985897 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.247G>A (p.Ala83Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003284047]|not provided [RCV001207483] |
Chr4:16038975 [GRCh38]
Chr4:16040598 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1730A>G (p.Asn577Ser) |
single nucleotide variant |
not provided [RCV001202102] |
Chr4:15994024 [GRCh38]
Chr4:15995647 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2281-3del |
deletion |
not provided [RCV001229533] |
Chr4:15984358 [GRCh38]
Chr4:15985981 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.253G>T (p.Glu85Ter) |
single nucleotide variant |
not provided [RCV001236342] |
Chr4:16038969 [GRCh38]
Chr4:16040592 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1 |
copy number loss |
not provided [RCV000998337] |
Chr4:13529798..22750583 [GRCh37]
Chr4:4p15.33-15.2 |
uncertain significance |
| NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs) |
deletion |
Leber congenital amaurosis 1 [RCV000855429] |
Chr4:15992281..15992282 [GRCh38]
Chr4:15993904..15993905 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001144804]|Retinal dystrophy [RCV003890298]|Retinal macular dystrophy type 2 [RCV001144802]|Retinitis pigmentosa [RCV001146761]|Stargardt disease 4 [RCV001144803]|not provided [RCV001326038] |
Chr4:16000606 [GRCh38]
Chr4:16002229 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.706G>A (p.Val236Met) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001147065]|Retinal dystrophy [RCV003890302]|Retinal macular dystrophy type 2 [RCV001147960]|Retinitis pigmentosa [RCV001147064]|Stargardt disease 4 [RCV001147066]|not provided [RCV001234845] |
Chr4:16023404 [GRCh38]
Chr4:16025027 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1628_1629del (p.Ser543fs) |
microsatellite |
not provided [RCV001093371] |
Chr4:15998438..15998439 [GRCh38]
Chr4:16000061..16000062 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2130+2del |
deletion |
Autosomal recessive retinitis pigmentosa [RCV001257790]|not provided [RCV001211454] |
Chr4:15987661 [GRCh38]
Chr4:15989284 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.2211+6C>T |
single nucleotide variant |
not provided [RCV001245772] |
Chr4:15985951 [GRCh38]
Chr4:15987574 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2280+35G>A |
single nucleotide variant |
not provided [RCV001666448] |
Chr4:15985725 [GRCh38]
Chr4:15987348 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1455-75G>A |
single nucleotide variant |
not provided [RCV001710400] |
Chr4:16000694 [GRCh38]
Chr4:16002317 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.684A>G (p.Thr228=) |
single nucleotide variant |
not provided [RCV000883168] |
Chr4:16024305 [GRCh38]
Chr4:16025928 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.139del (p.His47fs) |
deletion |
Leber congenital amaurosis 1 [RCV000855430]|Retinitis pigmentosa 41 [RCV002051900]|not provided [RCV001858523] |
Chr4:16075768 [GRCh38]
Chr4:16077391 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.801A>G (p.Lys267=) |
single nucleotide variant |
not provided [RCV000903691] |
Chr4:16018524 [GRCh38]
Chr4:16020147 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.333A>G (p.Leu111=) |
single nucleotide variant |
Retinal dystrophy [RCV003890055]|not provided [RCV000910468] |
Chr4:16033480 [GRCh38]
Chr4:16035103 [GRCh37]
Chr4:4p15.32 |
benign|likely benign |
| NM_006017.3(PROM1):c.303+1G>T |
single nucleotide variant |
not provided [RCV001226730] |
Chr4:16035734 [GRCh38]
Chr4:16037357 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.1945T>C (p.Ser649Pro) |
single nucleotide variant |
not provided [RCV001208274] |
Chr4:15991260 [GRCh38]
Chr4:15992883 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.734T>C (p.Leu245Pro) |
single nucleotide variant |
Stargardt disease 4 [RCV001199380] |
Chr4:16023376 [GRCh38]
Chr4:16024999 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.*681C>G |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001145505]|Retinal macular dystrophy type 2 [RCV001145507]|Retinitis pigmentosa [RCV001147454]|Stargardt disease 4 [RCV001145506] |
Chr4:15968712 [GRCh38]
Chr4:15970335 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.*107G>T |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001145613]|Retinal macular dystrophy type 2 [RCV001145610]|Retinitis pigmentosa [RCV001145612]|Stargardt disease 4 [RCV001145611] |
Chr4:15969286 [GRCh38]
Chr4:15970909 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1272A>T (p.Leu424Phe) |
single nucleotide variant |
not provided [RCV001245343] |
Chr4:16008978 [GRCh38]
Chr4:16010601 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1984C>A (p.Pro662Thr) |
single nucleotide variant |
not provided [RCV001236912] |
Chr4:15989824 [GRCh38]
Chr4:15991447 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.*580T>A |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001148388]|Retinal macular dystrophy type 2 [RCV001148389]|Retinitis pigmentosa [RCV001148387]|Stargardt disease 4 [RCV001148386] |
Chr4:15968813 [GRCh38]
Chr4:15970436 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1925C>T (p.Pro642Leu) |
single nucleotide variant |
not provided [RCV001227856] |
Chr4:15991280 [GRCh38]
Chr4:15992903 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2021C>T (p.Ala674Val) |
single nucleotide variant |
not provided [RCV001057906] |
Chr4:15989787 [GRCh38]
Chr4:15991410 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.50C>A (p.Ser17Tyr) |
single nucleotide variant |
not provided [RCV001221310] |
Chr4:16075857 [GRCh38]
Chr4:16077480 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1954T>C (p.Tyr652His) |
single nucleotide variant |
not provided [RCV001243730] |
Chr4:15991251 [GRCh38]
Chr4:15992874 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2397A>G (p.Gly799=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001143945]|Retinal macular dystrophy type 2 [RCV001143946]|Retinitis pigmentosa [RCV001143944]|Stargardt disease 4 [RCV001143943] |
Chr4:15980514 [GRCh38]
Chr4:15982137 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.731G>T (p.Arg244Leu) |
single nucleotide variant |
not provided [RCV001221834] |
Chr4:16023379 [GRCh38]
Chr4:16025002 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2170C>T (p.Gln724Ter) |
single nucleotide variant |
not provided [RCV001241892] |
Chr4:15985998 [GRCh38]
Chr4:15987621 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1455-4C>A |
single nucleotide variant |
not provided [RCV000998226] |
Chr4:16000623 [GRCh38]
Chr4:16002246 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.714A>G (p.Gly238=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001147060]|PROM1-related disorder [RCV004735870]|Retinal macular dystrophy type 2 [RCV001147063]|Retinitis pigmentosa [RCV001147062]|Stargardt disease 4 [RCV001147061]|not provided [RCV000890690]|not specified [RCV001000892] |
Chr4:16023396 [GRCh38]
Chr4:16025019 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.999G>A (p.Arg333=) |
single nucleotide variant |
not provided [RCV000911905] |
Chr4:16018326 [GRCh38]
Chr4:16019949 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1279T>C (p.Leu427=) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001146867]|Retinal macular dystrophy type 2 [RCV001144915]|Retinitis pigmentosa [RCV001144916]|Stargardt disease 4 [RCV001144917]|not provided [RCV000935482] |
Chr4:16008971 [GRCh38]
Chr4:16010594 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1983+62T>G |
single nucleotide variant |
not provided [RCV001659556] |
Chr4:15991160 [GRCh38]
Chr4:15992783 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.304-98_304-94dup |
duplication |
not provided [RCV001563184] |
Chr4:16033586..16033587 [GRCh38]
Chr4:16035209..16035210 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.631-2A>G |
single nucleotide variant |
Retinal dystrophy [RCV002466816] |
Chr4:16024360 [GRCh38]
Chr4:16025983 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2131-75T>G |
single nucleotide variant |
not provided [RCV001581974] |
Chr4:15986112 [GRCh38]
Chr4:15987735 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.694+81G>A |
single nucleotide variant |
not provided [RCV001676925] |
Chr4:16024214 [GRCh38]
Chr4:16025837 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.304-98_304-97dup |
duplication |
not provided [RCV001597406] |
Chr4:16033586..16033587 [GRCh38]
Chr4:16035209..16035210 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1455-46A>G |
single nucleotide variant |
not provided [RCV001641695] |
Chr4:16000665 [GRCh38]
Chr4:16002288 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.2076+80C>T |
single nucleotide variant |
not provided [RCV001686750] |
Chr4:15989652 [GRCh38]
Chr4:15991275 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.981_987delinsCTGGCTTAGAG (p.Ser328fs) |
indel |
not provided [RCV001009126] |
Chr4:16018338..16018344 [GRCh38]
Chr4:16019961..16019967 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.510-48A>G |
single nucleotide variant |
not provided [RCV001716482] |
Chr4:16025360 [GRCh38]
Chr4:16026983 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001150066]|Retinal dystrophy [RCV003890308]|Retinal macular dystrophy type 2 [RCV001150067]|Retinitis pigmentosa [RCV001150069]|Stargardt disease 4 [RCV001150068]|not provided [RCV001326315] |
Chr4:15980426 [GRCh38]
Chr4:15982049 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|uncertain significance |
| NM_006017.3(PROM1):c.*189A>G |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001145609]|Retinal macular dystrophy type 2 [RCV001149950]|Retinitis pigmentosa [RCV001149951]|Stargardt disease 4 [RCV001149949] |
Chr4:15969204 [GRCh38]
Chr4:15970827 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 |
copy number loss |
not provided [RCV001005519] |
Chr4:5914109..17264668 [GRCh37]
Chr4:4p16.2-15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.400C>T (p.Arg134Cys) |
single nucleotide variant |
Stargardt disease 4 [RCV001199381]|not specified [RCV001002450] |
Chr4:16033413 [GRCh38]
Chr4:16035036 [GRCh37]
Chr4:4p15.32 |
pathogenic|uncertain significance |
| NM_006017.3(PROM1):c.2130+95del |
deletion |
not provided [RCV001707470] |
Chr4:15987568 [GRCh38]
Chr4:15989191 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1276dup (p.Thr426fs) |
duplication |
not provided [RCV001063591] |
Chr4:16008973..16008974 [GRCh38]
Chr4:16010596..16010597 [GRCh37]
Chr4:4p15.32 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_006017.3(PROM1):c.1956T>G (p.Tyr652Ter) |
single nucleotide variant |
Retinitis pigmentosa 41 [RCV001591824]|not provided [RCV002569129] |
Chr4:15991249 [GRCh38]
Chr4:15992872 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.694+65T>C |
single nucleotide variant |
not provided [RCV001691393] |
Chr4:16024230 [GRCh38]
Chr4:16025853 [GRCh37]
Chr4:4p15.32 |
benign |
| GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 |
copy number loss |
not provided [RCV001537927] |
Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31 |
pathogenic |
| NM_006017.3(PROM1):c.304-98_304-95dup |
duplication |
not provided [RCV001610210] |
Chr4:16033586..16033587 [GRCh38]
Chr4:16035209..16035210 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1339C>G (p.Leu447Val) |
single nucleotide variant |
not provided [RCV001065899] |
Chr4:16006653 [GRCh38]
Chr4:16008276 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2582+9A>C |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001145615]|Retinal macular dystrophy type 2 [RCV001145728]|Retinitis pigmentosa [RCV001145616]|Stargardt disease 4 [RCV001145614]|not provided [RCV002557115] |
Chr4:15979386 [GRCh38]
Chr4:15981009 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.232A>C (p.Lys78Gln) |
single nucleotide variant |
not provided [RCV001235550] |
Chr4:16038990 [GRCh38]
Chr4:16040613 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1563C>A (p.Ser521Arg) |
single nucleotide variant |
not provided [RCV001207513] |
Chr4:16000511 [GRCh38]
Chr4:16002134 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1528A>T (p.Asn510Tyr) |
single nucleotide variant |
not provided [RCV001208447] |
Chr4:16000546 [GRCh38]
Chr4:16002169 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV003883533]|Cone-rod dystrophy [RCV003324549]|Retinal dystrophy [RCV001075595]|not provided [RCV001037546] |
Chr4:16024347 [GRCh38]
Chr4:16025970 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001149207]|Retinal macular dystrophy type 2 [RCV001149205]|Retinitis pigmentosa [RCV001149206]|Stargardt disease 4 [RCV001149204]|not provided [RCV002557210] |
Chr4:15989758 [GRCh38]
Chr4:15991381 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2540A>G (p.His847Arg) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001198793] |
Chr4:15979437 [GRCh38]
Chr4:15981060 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2415A>T (p.Leu805Phe) |
single nucleotide variant |
Retinal dystrophy [RCV001074912] |
Chr4:15980496 [GRCh38]
Chr4:15982119 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2373G>T (p.Leu791Phe) |
single nucleotide variant |
Retinal dystrophy [RCV001075023] |
Chr4:15984263 [GRCh38]
Chr4:15985886 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.77_78del (p.Thr26fs) |
microsatellite |
Retinal dystrophy [RCV001075126] |
Chr4:16075829..16075830 [GRCh38]
Chr4:16077452..16077453 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.2131-1G>A |
single nucleotide variant |
Retinal dystrophy [RCV001075128]|not provided [RCV003679034] |
Chr4:15986038 [GRCh38]
Chr4:15987661 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.2490-2A>G |
single nucleotide variant |
Retinal dystrophy [RCV001075507]|Retinal macular dystrophy type 2 [RCV001724244]|not provided [RCV001228903] |
Chr4:15979906 [GRCh38]
Chr4:15981529 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.1682+1G>T |
single nucleotide variant |
Retinal dystrophy [RCV001075727] |
Chr4:15998384 [GRCh38]
Chr4:16000007 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 |
copy number gain |
See cases [RCV001194594] |
Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11 |
pathogenic |
| NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001151116]|Retinal macular dystrophy type 2 [RCV001151118]|Retinitis pigmentosa [RCV001151115]|Stargardt disease 4 [RCV001151117]|not provided [RCV001858986] |
Chr4:16009055 [GRCh38]
Chr4:16010678 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1911+9C>T |
single nucleotide variant |
not provided [RCV001043956] |
Chr4:15992239 [GRCh38]
Chr4:15993862 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2167G>A (p.Ala723Thr) |
single nucleotide variant |
not provided [RCV001044564] |
Chr4:15986001 [GRCh38]
Chr4:15987624 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1500del (p.Ile500fs) |
deletion |
Retinitis pigmentosa 41 [RCV001587222]|not provided [RCV001204940] |
Chr4:16000574 [GRCh38]
Chr4:16002197 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1A>G (p.Met1Val) |
single nucleotide variant |
not provided [RCV001063747] |
Chr4:16075906 [GRCh38]
Chr4:16077529 [GRCh37]
Chr4:4p15.32 |
likely pathogenic|uncertain significance |
| NC_000004.12:g.(?_15992248)_(15998488_?)del |
deletion |
not provided [RCV001032243] |
Chr4:15993871..16000111 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.2414dup (p.Leu805fs) |
duplication |
Retinitis pigmentosa [RCV001199724]|not provided [RCV001092552] |
Chr4:15980496..15980497 [GRCh38]
Chr4:15982119..15982120 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2211+1G>A |
single nucleotide variant |
Cone-rod dystrophy [RCV001199725]|not provided [RCV001092553] |
Chr4:15985956 [GRCh38]
Chr4:15987579 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.1384G>A (p.Gly462Ser) |
single nucleotide variant |
not provided [RCV001206998] |
Chr4:16006608 [GRCh38]
Chr4:16008231 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.383A>G (p.Tyr128Cys) |
single nucleotide variant |
not provided [RCV001230833] |
Chr4:16033430 [GRCh38]
Chr4:16035053 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.11T>C (p.Val4Ala) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001198097] |
Chr4:16075896 [GRCh38]
Chr4:16077519 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NC_000004.12:g.(?_15992248)_(15994071_?)del |
deletion |
not provided [RCV001033034] |
Chr4:15993871..15995694 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.380G>T (p.Gly127Val) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001145211]|Retinal macular dystrophy type 2 [RCV001145212]|Retinitis pigmentosa [RCV001145210]|Stargardt disease 4 [RCV001147172] |
Chr4:16033433 [GRCh38]
Chr4:16035056 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.*1143A>C |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001149732]|Retinal macular dystrophy type 2 [RCV001149731]|Retinitis pigmentosa [RCV001149733]|Stargardt disease 4 [RCV001149734] |
Chr4:15968250 [GRCh38]
Chr4:15969873 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2300C>T (p.Ser767Leu) |
single nucleotide variant |
Retinal dystrophy [RCV001073268]|not provided [RCV001862491] |
Chr4:15984336 [GRCh38]
Chr4:15985959 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1002+6C>T |
single nucleotide variant |
Retinal dystrophy [RCV001073374] |
Chr4:16018317 [GRCh38]
Chr4:16019940 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2020G>T (p.Ala674Ser) |
single nucleotide variant |
Retinal dystrophy [RCV001073409]|not provided [RCV003768989] |
Chr4:15989788 [GRCh38]
Chr4:15991411 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1337C>A (p.Thr446Asn) |
single nucleotide variant |
not provided [RCV001093372] |
Chr4:16006655 [GRCh38]
Chr4:16008278 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1234_1239del (p.Tyr412_Val413del) |
deletion |
not provided [RCV001071556] |
Chr4:16009011..16009016 [GRCh38]
Chr4:16010634..16010639 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001145010]|Retinal macular dystrophy type 2 [RCV001145009]|Retinitis pigmentosa [RCV001145011]|Stargardt disease 4 [RCV001145012]|not provided [RCV001071853] |
Chr4:16016207 [GRCh38]
Chr4:16017830 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2327A>T (p.Asp776Val) |
single nucleotide variant |
Retinal dystrophy [RCV001073905]|Retinitis pigmentosa 41 [RCV001376252]|Stargardt disease 4 [RCV002489720]|not provided [RCV001862810] |
Chr4:15984309 [GRCh38]
Chr4:15985932 [GRCh37]
Chr4:4p15.32 |
likely pathogenic|uncertain significance |
| NM_006017.3(PROM1):c.132A>T (p.Gln44His) |
single nucleotide variant |
not provided [RCV001038799] |
Chr4:16075775 [GRCh38]
Chr4:16077398 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.335G>A (p.Cys112Tyr) |
single nucleotide variant |
not provided [RCV001230832] |
Chr4:16033478 [GRCh38]
Chr4:16035101 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1309G>A (p.Gly437Ser) |
single nucleotide variant |
not provided [RCV001245767] |
Chr4:16006683 [GRCh38]
Chr4:16008306 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.376G>A (p.Val126Met) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001147176]|Retinal macular dystrophy type 2 [RCV001147175]|Retinitis pigmentosa [RCV001147174]|Stargardt disease 4 [RCV001147173]|not provided [RCV001241210] |
Chr4:16033437 [GRCh38]
Chr4:16035060 [GRCh37]
Chr4:4p15.32 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006017.3(PROM1):c.*985C>G |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001147340]|Retinal macular dystrophy type 2 [RCV001148280]|Retinitis pigmentosa [RCV001147339]|Stargardt disease 4 [RCV001147341] |
Chr4:15968408 [GRCh38]
Chr4:15970031 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1204A>G (p.Ile402Val) |
single nucleotide variant |
not provided [RCV001233531] |
Chr4:16009046 [GRCh38]
Chr4:16010669 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1579-12A>C |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001147571]|Retinal macular dystrophy type 2 [RCV001147573]|Retinitis pigmentosa [RCV001147572]|Stargardt disease 4 [RCV001147574]|not provided [RCV002070791] |
Chr4:15998500 [GRCh38]
Chr4:16000123 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1166T>C (p.Ile389Thr) |
single nucleotide variant |
not provided [RCV001205431] |
Chr4:16009084 [GRCh38]
Chr4:16010707 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1238T>A (p.Val413Asp) |
single nucleotide variant |
Retinal dystrophy [RCV001075086]|not provided [RCV003558655] |
Chr4:16009012 [GRCh38]
Chr4:16010635 [GRCh37]
Chr4:4p15.32 |
likely pathogenic|uncertain significance |
| NM_006017.3(PROM1):c.1414C>T (p.Arg472Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001075098]|not provided [RCV001240750] |
Chr4:16006578 [GRCh38]
Chr4:16008201 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.879C>A (p.Ser293Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001075103]|not provided [RCV001862843] |
Chr4:16018446 [GRCh38]
Chr4:16020069 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.562A>G (p.Lys188Glu) |
single nucleotide variant |
Retinal dystrophy [RCV001075458]|not provided [RCV001318959] |
Chr4:16025260 [GRCh38]
Chr4:16026883 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.53T>C (p.Phe18Ser) |
single nucleotide variant |
Retinal dystrophy [RCV001075541] |
Chr4:16075854 [GRCh38]
Chr4:16077477 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1709_1710insAA (p.Tyr570Ter) |
insertion |
not provided [RCV001231904] |
Chr4:15994044..15994045 [GRCh38]
Chr4:15995667..15995668 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2236A>C (p.Ile746Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002563728]|not provided [RCV001229587] |
Chr4:15985804 [GRCh38]
Chr4:15987427 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1150_1151del (p.Arg384fs) |
deletion |
Cone-rod dystrophy 2 [RCV001255713] |
Chr4:16009099..16009100 [GRCh38]
Chr4:16010722..16010723 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1853T>G (p.Leu618Arg) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV004691623] |
Chr4:15992306 [GRCh38]
Chr4:15993929 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.1983+43T>C |
single nucleotide variant |
not provided [RCV001641581] |
Chr4:15991179 [GRCh38]
Chr4:15992802 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1557C>G (p.Tyr519Ter) |
single nucleotide variant |
Autosomal recessive retinitis pigmentosa [RCV001257888] |
Chr4:16000517 [GRCh38]
Chr4:16002140 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2209G>T (p.Glu737Ter) |
single nucleotide variant |
Retinitis pigmentosa 41 [RCV001808087] |
Chr4:15985959 [GRCh38]
Chr4:15987582 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| GRCh37/hg19 4p15.32(chr4:16042466-16135616)x1 |
copy number loss |
not provided [RCV001259844] |
Chr4:16042466..16135616 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| GRCh37/hg19 4p15.32(chr4:15940736-16004666)x1 |
copy number loss |
not provided [RCV001259845] |
Chr4:15940736..16004666 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.199C>T (p.Gln67Ter) |
single nucleotide variant |
not provided [RCV001268778] |
Chr4:16075708 [GRCh38]
Chr4:16077331 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.661A>C (p.Thr221Pro) |
single nucleotide variant |
not provided [RCV001303720] |
Chr4:16024328 [GRCh38]
Chr4:16025951 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.728A>C (p.Asp243Ala) |
single nucleotide variant |
not provided [RCV001341658] |
Chr4:16023382 [GRCh38]
Chr4:16025005 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1656G>A (p.Met552Ile) |
single nucleotide variant |
not provided [RCV001341688] |
Chr4:15998411 [GRCh38]
Chr4:16000034 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2476G>C (p.Asp826His) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001352997] |
Chr4:15980435 [GRCh38]
Chr4:15982058 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.2513+3A>T |
single nucleotide variant |
not provided [RCV001298667] |
Chr4:15979878 [GRCh38]
Chr4:15981501 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1746T>G (p.Ser582Arg) |
single nucleotide variant |
not provided [RCV001301526] |
Chr4:15994008 [GRCh38]
Chr4:15995631 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1683-8T>A |
single nucleotide variant |
not provided [RCV001312039] |
Chr4:15994079 [GRCh38]
Chr4:15995702 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NC_000004.11:g.(?_15964081)_(16172352_?)dup |
duplication |
not provided [RCV001324923] |
Chr4:15964081..16172352 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1611C>G (p.Asp537Glu) |
single nucleotide variant |
not provided [RCV001308630] |
Chr4:15998456 [GRCh38]
Chr4:16000079 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1378G>A (p.Val460Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003263938]|not provided [RCV001307993] |
Chr4:16006614 [GRCh38]
Chr4:16008237 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.605G>T (p.Arg202Leu) |
single nucleotide variant |
not provided [RCV001319685] |
Chr4:16025217 [GRCh38]
Chr4:16026840 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.439C>T (p.Gln147Ter) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001330187] |
Chr4:16033374 [GRCh38]
Chr4:16034997 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2576T>A (p.Met859Lys) |
single nucleotide variant |
not provided [RCV001318165] |
Chr4:15979401 [GRCh38]
Chr4:15981024 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.835A>G (p.Ser279Gly) |
single nucleotide variant |
not provided [RCV001309434] |
Chr4:16018490 [GRCh38]
Chr4:16020113 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1184A>G (p.Asn395Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004036160]|not provided [RCV001300040] |
Chr4:16009066 [GRCh38]
Chr4:16010689 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2555A>G (p.Tyr852Cys) |
single nucleotide variant |
not provided [RCV001307138] |
Chr4:15979422 [GRCh38]
Chr4:15981045 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1927G>A (p.Ala643Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004035938]|Retinal dystrophy [RCV003888039]|not provided [RCV001340401] |
Chr4:15991278 [GRCh38]
Chr4:15992901 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1127C>T (p.Thr376Met) |
single nucleotide variant |
not provided [RCV001299825] |
Chr4:16013289 [GRCh38]
Chr4:16014912 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2272G>A (p.Glu758Lys) |
single nucleotide variant |
not provided [RCV001337452] |
Chr4:15985768 [GRCh38]
Chr4:15987391 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.572G>A (p.Arg191Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004034964]|Retinal dystrophy [RCV003888021]|not provided [RCV001319351] |
Chr4:16025250 [GRCh38]
Chr4:16026873 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.950A>G (p.Asn317Ser) |
single nucleotide variant |
not provided [RCV001324781] |
Chr4:16018375 [GRCh38]
Chr4:16019998 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1663A>C (p.Thr555Pro) |
single nucleotide variant |
not provided [RCV001298540] |
Chr4:15998404 [GRCh38]
Chr4:16000027 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1784G>A (p.Ser595Asn) |
single nucleotide variant |
not provided [RCV001350589] |
Chr4:15992375 [GRCh38]
Chr4:15993998 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1454+4A>G |
single nucleotide variant |
not provided [RCV001316380] |
Chr4:16006534 [GRCh38]
Chr4:16008157 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2078G>A (p.Ser693Asn) |
single nucleotide variant |
not provided [RCV001297900] |
Chr4:15987715 [GRCh38]
Chr4:15989338 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2521A>G (p.Asn841Asp) |
single nucleotide variant |
not provided [RCV001327288] |
Chr4:15979456 [GRCh38]
Chr4:15981079 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1705A>C (p.Thr569Pro) |
single nucleotide variant |
not provided [RCV001351173] |
Chr4:15994049 [GRCh38]
Chr4:15995672 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.313T>C (p.Tyr105His) |
single nucleotide variant |
not provided [RCV001302710] |
Chr4:16033500 [GRCh38]
Chr4:16035123 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 |
copy number gain |
not provided [RCV001537928] |
Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1 |
pathogenic |
| NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter) |
single nucleotide variant |
Stargardt disease [RCV002466268]|not provided [RCV001383295] |
Chr4:15989785 [GRCh38]
Chr4:15991408 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1070T>A (p.Val357Asp) |
single nucleotide variant |
not provided [RCV001373125] |
Chr4:16016173 [GRCh38]
Chr4:16017796 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1697A>T (p.Asn566Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004036266]|not provided [RCV001303100] |
Chr4:15994057 [GRCh38]
Chr4:15995680 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.380G>A (p.Gly127Glu) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001353023] |
Chr4:16033433 [GRCh38]
Chr4:16035056 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.1344C>A (p.Ile448=) |
single nucleotide variant |
not provided [RCV001342269] |
Chr4:16006648 [GRCh38]
Chr4:16008271 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2281-7_2281-6delinsAG |
indel |
not provided [RCV001320287] |
Chr4:15984361..15984362 [GRCh38]
Chr4:15985984..15985985 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.880G>A (p.Val294Met) |
single nucleotide variant |
not provided [RCV001321966] |
Chr4:16018445 [GRCh38]
Chr4:16020068 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1578G>A (p.Arg526=) |
single nucleotide variant |
not provided [RCV001344948] |
Chr4:16000496 [GRCh38]
Chr4:16002119 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.203C>T (p.Pro68Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003355375]|not provided [RCV001305657] |
Chr4:16075704 [GRCh38]
Chr4:16077327 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.449A>G (p.Asn150Ser) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001330188] |
Chr4:16033364 [GRCh38]
Chr4:16034987 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1616A>T (p.Glu539Val) |
single nucleotide variant |
Retinal dystrophy [RCV003888048]|not provided [RCV001347031] |
Chr4:15998451 [GRCh38]
Chr4:16000074 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2401G>A (p.Ala801Thr) |
single nucleotide variant |
not provided [RCV001306934] |
Chr4:15980510 [GRCh38]
Chr4:15982133 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2596T>G (p.Ter866Gly) |
single nucleotide variant |
not provided [RCV001347171] |
Chr4:15971069 [GRCh38]
Chr4:15972692 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1301+1G>A |
single nucleotide variant |
not provided [RCV002284632] |
Chr4:16008948 [GRCh38]
Chr4:16010571 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.2095G>A (p.Val699Ile) |
single nucleotide variant |
Retinal dystrophy [RCV003888042]|not provided [RCV001342581] |
Chr4:15987698 [GRCh38]
Chr4:15989321 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.559A>G (p.Ile187Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004036224]|not provided [RCV001302085] |
Chr4:16025263 [GRCh38]
Chr4:16026886 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1300T>C (p.Trp434Arg) |
single nucleotide variant |
not provided [RCV001346148] |
Chr4:16008950 [GRCh38]
Chr4:16010573 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1289A>C (p.Tyr430Ser) |
single nucleotide variant |
not provided [RCV001350584] |
Chr4:16008961 [GRCh38]
Chr4:16010584 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2099A>G (p.Lys700Arg) |
single nucleotide variant |
not provided [RCV001319293] |
Chr4:15987694 [GRCh38]
Chr4:15989317 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.475G>A (p.Ala159Thr) |
single nucleotide variant |
not provided [RCV001302254] |
Chr4:16033338 [GRCh38]
Chr4:16034961 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1196G>A (p.Arg399His) |
single nucleotide variant |
PROM1-related disorder [RCV004734132]|not provided [RCV001344246] |
Chr4:16009054 [GRCh38]
Chr4:16010677 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1077G>T (p.Gln359His) |
single nucleotide variant |
not provided [RCV001359441] |
Chr4:16016166 [GRCh38]
Chr4:16017789 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1151G>C (p.Arg384Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004034531]|not provided [RCV001359481] |
Chr4:16009099 [GRCh38]
Chr4:16010722 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1927G>T (p.Ala643Ser) |
single nucleotide variant |
not provided [RCV001350395] |
Chr4:15991278 [GRCh38]
Chr4:15992901 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1718T>A (p.Leu573His) |
single nucleotide variant |
not provided [RCV001315100] |
Chr4:15994036 [GRCh38]
Chr4:15995659 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1589C>T (p.Thr530Ile) |
single nucleotide variant |
not provided [RCV001316154] |
Chr4:15998478 [GRCh38]
Chr4:16000101 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.645A>G (p.Ile215Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003166825]|PROM1-related disorder [RCV004734121]|not provided [RCV001317327] |
Chr4:16024344 [GRCh38]
Chr4:16025967 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1834G>C (p.Ala612Pro) |
single nucleotide variant |
not provided [RCV001373086] |
Chr4:15992325 [GRCh38]
Chr4:15993948 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1385G>T (p.Gly462Val) |
single nucleotide variant |
not provided [RCV001963879] |
Chr4:16006607 [GRCh38]
Chr4:16008230 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.971G>A (p.Ser324Asn) |
single nucleotide variant |
not provided [RCV001364282] |
Chr4:16018354 [GRCh38]
Chr4:16019977 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1077+3A>T |
single nucleotide variant |
not provided [RCV001345533] |
Chr4:16016163 [GRCh38]
Chr4:16017786 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2516T>C (p.Met839Thr) |
single nucleotide variant |
not provided [RCV001301133] |
Chr4:15979461 [GRCh38]
Chr4:15981084 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1960C>G (p.Leu654Val) |
single nucleotide variant |
not provided [RCV001345599] |
Chr4:15991245 [GRCh38]
Chr4:15992868 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1435G>A (p.Gly479Arg) |
single nucleotide variant |
not provided [RCV001366257] |
Chr4:16006557 [GRCh38]
Chr4:16008180 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.356T>G (p.Phe119Cys) |
single nucleotide variant |
not provided [RCV001318327] |
Chr4:16033457 [GRCh38]
Chr4:16035080 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1002+20C>T |
single nucleotide variant |
not provided [RCV001412483] |
Chr4:16018303 [GRCh38]
Chr4:16019926 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.389T>C (p.Phe130Ser) |
single nucleotide variant |
not provided [RCV001366894] |
Chr4:16033424 [GRCh38]
Chr4:16035047 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2435C>T (p.Ala812Val) |
single nucleotide variant |
not provided [RCV001318558] |
Chr4:15980476 [GRCh38]
Chr4:15982099 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2181C>G (p.Ile727Met) |
single nucleotide variant |
not provided [RCV001300217] |
Chr4:15985987 [GRCh38]
Chr4:15987610 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.522C>G (p.Phe174Leu) |
single nucleotide variant |
not provided [RCV001368562] |
Chr4:16025300 [GRCh38]
Chr4:16026923 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1849A>C (p.Asn617His) |
single nucleotide variant |
Inborn genetic diseases [RCV004651625]|not provided [RCV001367420] |
Chr4:15992310 [GRCh38]
Chr4:15993933 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.401G>C (p.Arg134Pro) |
single nucleotide variant |
not provided [RCV001358930] |
Chr4:16033412 [GRCh38]
Chr4:16035035 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.521T>C (p.Phe174Ser) |
single nucleotide variant |
not provided [RCV001365674] |
Chr4:16025301 [GRCh38]
Chr4:16026924 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2305A>T (p.Lys769Ter) |
single nucleotide variant |
not provided [RCV001389343] |
Chr4:15984331 [GRCh38]
Chr4:15985954 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.220+10G>A |
single nucleotide variant |
not provided [RCV001490326] |
Chr4:16075677 [GRCh38]
Chr4:16077300 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.784+2T>C |
single nucleotide variant |
not provided [RCV001377654] |
Chr4:16023324 [GRCh38]
Chr4:16024947 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.1995T>C (p.Asn665=) |
single nucleotide variant |
not provided [RCV001478395] |
Chr4:15989813 [GRCh38]
Chr4:15991436 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.984_985del (p.Ser328fs) |
deletion |
not provided [RCV001384691] |
Chr4:16018340..16018341 [GRCh38]
Chr4:16019963..16019964 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2199T>C (p.Ser733=) |
single nucleotide variant |
not provided [RCV001451361] |
Chr4:15985969 [GRCh38]
Chr4:15987592 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.400_401insTGTATTT (p.Arg134fs) |
insertion |
not provided [RCV001385185] |
Chr4:16033412..16033413 [GRCh38]
Chr4:16035035..16035036 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2458C>G (p.Arg820Gly) |
single nucleotide variant |
not provided [RCV001475285] |
Chr4:15980453 [GRCh38]
Chr4:15982076 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1560G>A (p.Thr520=) |
single nucleotide variant |
not provided [RCV001479737] |
Chr4:16000514 [GRCh38]
Chr4:16002137 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.221-5del |
deletion |
not provided [RCV001519669] |
Chr4:16039006 [GRCh38]
Chr4:16040629 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.2489+7A>G |
single nucleotide variant |
PROM1-related disorder [RCV004734170]|not provided [RCV001400017] |
Chr4:15980415 [GRCh38]
Chr4:15982038 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1077+17A>T |
single nucleotide variant |
not provided [RCV001491284] |
Chr4:16016149 [GRCh38]
Chr4:16017772 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2151A>G (p.Leu717=) |
single nucleotide variant |
not provided [RCV001474054] |
Chr4:15986017 [GRCh38]
Chr4:15987640 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1302-4C>T |
single nucleotide variant |
not provided [RCV001425887] |
Chr4:16006694 [GRCh38]
Chr4:16008317 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.18C>A (p.Gly6=) |
single nucleotide variant |
not provided [RCV001503940] |
Chr4:16075889 [GRCh38]
Chr4:16077512 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2115A>G (p.Thr705=) |
single nucleotide variant |
not provided [RCV001429501] |
Chr4:15987678 [GRCh38]
Chr4:15989301 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.630+19A>G |
single nucleotide variant |
not provided [RCV001461157] |
Chr4:16025173 [GRCh38]
Chr4:16026796 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2281-23T>G |
single nucleotide variant |
not provided [RCV001519115] |
Chr4:15984378 [GRCh38]
Chr4:15986001 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.277-5T>A |
single nucleotide variant |
not provided [RCV001432622] |
Chr4:16035766 [GRCh38]
Chr4:16037389 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2085A>G (p.Leu695=) |
single nucleotide variant |
not provided [RCV001407164] |
Chr4:15987708 [GRCh38]
Chr4:15989331 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1330C>T (p.Leu444=) |
single nucleotide variant |
not provided [RCV001409515] |
Chr4:16006662 [GRCh38]
Chr4:16008285 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.220+2T>A |
single nucleotide variant |
not provided [RCV001377841] |
Chr4:16075685 [GRCh38]
Chr4:16077308 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.2329dup (p.Thr777fs) |
duplication |
PROM1-related disorder [RCV004699365]|not provided [RCV001389543] |
Chr4:15984306..15984307 [GRCh38]
Chr4:15985929..15985930 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2215del (p.Thr739fs) |
deletion |
Retinal macular dystrophy type 2 [RCV003989690]|not provided [RCV001388358] |
Chr4:15985825 [GRCh38]
Chr4:15987448 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1912A>G (p.Thr638Ala) |
single nucleotide variant |
PROM1-related disorder [RCV004734178]|not provided [RCV001410027] |
Chr4:15991293 [GRCh38]
Chr4:15992916 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.785-18C>T |
single nucleotide variant |
not provided [RCV001446887] |
Chr4:16018558 [GRCh38]
Chr4:16020181 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.967C>T (p.Leu323=) |
single nucleotide variant |
not provided [RCV001449451] |
Chr4:16018358 [GRCh38]
Chr4:16019981 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NC_000004.11:g.(?_16034907)_(16037404_?)del |
deletion |
not provided [RCV001390051] |
Chr4:16034907..16037404 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2130+1G>C |
single nucleotide variant |
not provided [RCV001379295] |
Chr4:15987662 [GRCh38]
Chr4:15989285 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.2043C>T (p.His681=) |
single nucleotide variant |
not provided [RCV001416059] |
Chr4:15989765 [GRCh38]
Chr4:15991388 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2198_2199del (p.Ser733fs) |
microsatellite |
not provided [RCV001388682] |
Chr4:15985969..15985970 [GRCh38]
Chr4:15987592..15987593 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2481G>A (p.Val827=) |
single nucleotide variant |
not provided [RCV001442001] |
Chr4:15980430 [GRCh38]
Chr4:15982053 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.477A>G (p.Ala159=) |
single nucleotide variant |
PROM1-related disorder [RCV004531242]|not provided [RCV001408111] |
Chr4:16033336 [GRCh38]
Chr4:16034959 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.108G>A (p.Leu36=) |
single nucleotide variant |
not provided [RCV001403930] |
Chr4:16075799 [GRCh38]
Chr4:16077422 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1683-14G>A |
single nucleotide variant |
not provided [RCV001402686] |
Chr4:15994085 [GRCh38]
Chr4:15995708 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.303+15T>G |
single nucleotide variant |
not provided [RCV001404030] |
Chr4:16035720 [GRCh38]
Chr4:16037343 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.695-16G>C |
single nucleotide variant |
not provided [RCV001401801] |
Chr4:16023431 [GRCh38]
Chr4:16025054 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.509+8C>T |
single nucleotide variant |
not provided [RCV001457632] |
Chr4:16033296 [GRCh38]
Chr4:16034919 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.808T>C (p.Leu270=) |
single nucleotide variant |
PROM1-related disorder [RCV004533880]|not provided [RCV001495501] |
Chr4:16018517 [GRCh38]
Chr4:16020140 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.963G>A (p.Leu321=) |
single nucleotide variant |
not provided [RCV001465504] |
Chr4:16018362 [GRCh38]
Chr4:16019985 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2131-17G>C |
single nucleotide variant |
not provided [RCV001519874] |
Chr4:15986054 [GRCh38]
Chr4:15987677 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1003-35A>C |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV001789502]|Retinal macular dystrophy type 2 [RCV001789501]|Retinitis pigmentosa 41 [RCV001789499]|Stargardt disease 4 [RCV001789500]|not provided [RCV001674013] |
Chr4:16016275 [GRCh38]
Chr4:16017898 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.509+9_509+10del |
deletion |
not provided [RCV001503536] |
Chr4:16033294..16033295 [GRCh38]
Chr4:16034917..16034918 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2280+49T>C |
single nucleotide variant |
not provided [RCV001686398] |
Chr4:15985711 [GRCh38]
Chr4:15987334 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1263C>T (p.His421=) |
single nucleotide variant |
not provided [RCV001453118] |
Chr4:16008987 [GRCh38]
Chr4:16010610 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1926C>T (p.Pro642=) |
single nucleotide variant |
not provided [RCV001471310] |
Chr4:15991279 [GRCh38]
Chr4:15992902 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.807G>A (p.Ala269=) |
single nucleotide variant |
Retinal dystrophy [RCV003888201]|not provided [RCV001478005] |
Chr4:16018518 [GRCh38]
Chr4:16020141 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1142-17G>T |
single nucleotide variant |
not provided [RCV001513507] |
Chr4:16009125 [GRCh38]
Chr4:16010748 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1767+92G>A |
single nucleotide variant |
not provided [RCV001674555] |
Chr4:15993895 [GRCh38]
Chr4:15995518 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.540T>C (p.Asn180=) |
single nucleotide variant |
not provided [RCV001502941] |
Chr4:16025282 [GRCh38]
Chr4:16026905 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1579-16del |
deletion |
not provided [RCV001495185] |
Chr4:15998504 [GRCh38]
Chr4:16000127 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2476del (p.Asp826fs) |
deletion |
not provided [RCV001384986] |
Chr4:15980435 [GRCh38]
Chr4:15982058 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2281-4del |
deletion |
not provided [RCV001509943] |
Chr4:15984359 [GRCh38]
Chr4:15985982 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.2130+15T>C |
single nucleotide variant |
not provided [RCV001497430] |
Chr4:15987648 [GRCh38]
Chr4:15989271 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2253A>G (p.Glu751=) |
single nucleotide variant |
not provided [RCV001452918] |
Chr4:15985787 [GRCh38]
Chr4:15987410 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2513+19A>G |
single nucleotide variant |
not provided [RCV001461583] |
Chr4:15979862 [GRCh38]
Chr4:15981485 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2454C>T (p.Tyr818=) |
single nucleotide variant |
PROM1-related disorder [RCV004533928]|not provided [RCV001513817] |
Chr4:15980457 [GRCh38]
Chr4:15982080 [GRCh37]
Chr4:4p15.32 |
benign|likely benign |
| NM_006017.3(PROM1):c.2238A>T (p.Ile746=) |
single nucleotide variant |
not provided [RCV001478401] |
Chr4:15985802 [GRCh38]
Chr4:15987425 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1984-10C>G |
single nucleotide variant |
not provided [RCV001484996] |
Chr4:15989834 [GRCh38]
Chr4:15991457 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2374-16G>A |
single nucleotide variant |
not provided [RCV001513506] |
Chr4:15980553 [GRCh38]
Chr4:15982176 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.2484C>T (p.Tyr828=) |
single nucleotide variant |
not provided [RCV001434396] |
Chr4:15980427 [GRCh38]
Chr4:15982050 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2280+8G>A |
single nucleotide variant |
not provided [RCV001466123] |
Chr4:15985752 [GRCh38]
Chr4:15987375 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2514-12T>C |
single nucleotide variant |
not provided [RCV001423698] |
Chr4:15979475 [GRCh38]
Chr4:15981098 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NC_000004.11:g.(?_16034927)_(16050534_?)dup |
duplication |
not provided [RCV001378352] |
Chr4:16034927..16050534 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.349C>T (p.Leu117=) |
single nucleotide variant |
not provided [RCV001461595] |
Chr4:16033464 [GRCh38]
Chr4:16035087 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2358C>T (p.Tyr786=) |
single nucleotide variant |
not provided [RCV001515341] |
Chr4:15984278 [GRCh38]
Chr4:15985901 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1301+10_1301+11delinsAA |
indel |
not provided [RCV001416363] |
Chr4:16008938..16008939 [GRCh38]
Chr4:16010561..16010562 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1141+11_1141+12del |
microsatellite |
not provided [RCV001497021] |
Chr4:16013263..16013264 [GRCh38]
Chr4:16014886..16014887 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2196del (p.Ser733fs) |
deletion |
not provided [RCV001384538] |
Chr4:15985972 [GRCh38]
Chr4:15987595 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.781A>G (p.Thr261Ala) |
single nucleotide variant |
not provided [RCV003105159] |
Chr4:16023329 [GRCh38]
Chr4:16024952 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.958A>G (p.Arg320Gly) |
single nucleotide variant |
not provided [RCV001755584] |
Chr4:16018367 [GRCh38]
Chr4:16019990 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.695G>T (p.Ser232Ile) |
single nucleotide variant |
not provided [RCV001759025] |
Chr4:16023415 [GRCh38]
Chr4:16025038 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.599A>G (p.Asp200Gly) |
single nucleotide variant |
not provided [RCV001768338] |
Chr4:16025223 [GRCh38]
Chr4:16026846 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.818T>A (p.Met273Lys) |
single nucleotide variant |
not provided [RCV001769830] |
Chr4:16018507 [GRCh38]
Chr4:16020130 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1302G>A (p.Trp434Ter) |
single nucleotide variant |
not provided [RCV001795530] |
Chr4:16006690 [GRCh38]
Chr4:16008313 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2490-84del |
deletion |
not provided [RCV001733453] |
Chr4:15979988 [GRCh38]
Chr4:15981611 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1739A>G (p.Asn580Ser) |
single nucleotide variant |
not provided [RCV001757806] |
Chr4:15994015 [GRCh38]
Chr4:15995638 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.276+2T>C |
single nucleotide variant |
Retinitis pigmentosa 41 [RCV001808139] |
Chr4:16038944 [GRCh38]
Chr4:16040567 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.401G>A (p.Arg134His) |
single nucleotide variant |
not provided [RCV001863469] |
Chr4:16033412 [GRCh38]
Chr4:16035035 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.179A>G (p.His60Arg) |
single nucleotide variant |
not provided [RCV001929737] |
Chr4:16075728 [GRCh38]
Chr4:16077351 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1150A>G (p.Arg384Gly) |
single nucleotide variant |
not provided [RCV001929918] |
Chr4:16009100 [GRCh38]
Chr4:16010723 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.116C>A (p.Thr39Lys) |
single nucleotide variant |
not provided [RCV001896241] |
Chr4:16075791 [GRCh38]
Chr4:16077414 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2296G>A (p.Ala766Thr) |
single nucleotide variant |
PROM1-related disorder [RCV004543671]|not provided [RCV001971411] |
Chr4:15984340 [GRCh38]
Chr4:15985963 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2515A>G (p.Met839Val) |
single nucleotide variant |
not provided [RCV002005010] |
Chr4:15979462 [GRCh38]
Chr4:15981085 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2593C>A (p.His865Asn) |
single nucleotide variant |
not provided [RCV001915216] |
Chr4:15971072 [GRCh38]
Chr4:15972695 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.268T>A (p.Tyr90Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002563481]|not provided [RCV001987984] |
Chr4:16038954 [GRCh38]
Chr4:16040577 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1559C>T (p.Thr520Met) |
single nucleotide variant |
not provided [RCV001987048] |
Chr4:16000515 [GRCh38]
Chr4:16002138 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1939C>T (p.Leu647Phe) |
single nucleotide variant |
not provided [RCV002002732] |
Chr4:15991266 [GRCh38]
Chr4:15992889 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1163C>A (p.Ser388Tyr) |
single nucleotide variant |
not provided [RCV002044326] |
Chr4:16009087 [GRCh38]
Chr4:16010710 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.220+1G>C |
single nucleotide variant |
not provided [RCV002044375] |
Chr4:16075686 [GRCh38]
Chr4:16077309 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.908A>G (p.Asn303Ser) |
single nucleotide variant |
not provided [RCV001913380] |
Chr4:16018417 [GRCh38]
Chr4:16020040 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.199C>G (p.Gln67Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004042486]|not provided [RCV002025196] |
Chr4:16075708 [GRCh38]
Chr4:16077331 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2458C>T (p.Arg820Cys) |
single nucleotide variant |
not provided [RCV001971184] |
Chr4:15980453 [GRCh38]
Chr4:15982076 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.442A>T (p.Lys148Ter) |
single nucleotide variant |
not provided [RCV001949537] |
Chr4:16033371 [GRCh38]
Chr4:16034994 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2062A>G (p.Ile688Val) |
single nucleotide variant |
Retinal dystrophy [RCV003888893]|not provided [RCV001896873] |
Chr4:15989746 [GRCh38]
Chr4:15991369 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2408T>C (p.Val803Ala) |
single nucleotide variant |
not provided [RCV001965179] |
Chr4:15980503 [GRCh38]
Chr4:15982126 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.406T>A (p.Cys136Ser) |
single nucleotide variant |
not provided [RCV002006409] |
Chr4:16033407 [GRCh38]
Chr4:16035030 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1085A>G (p.Gln362Arg) |
single nucleotide variant |
not provided [RCV002023110] |
Chr4:16013331 [GRCh38]
Chr4:16014954 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.895C>T (p.Arg299Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003264138]|not provided [RCV001872260] |
Chr4:16018430 [GRCh38]
Chr4:16020053 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.743A>G (p.Asn248Ser) |
single nucleotide variant |
not provided [RCV002039636] |
Chr4:16023367 [GRCh38]
Chr4:16024990 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1697A>G (p.Asn566Ser) |
single nucleotide variant |
not provided [RCV001890884] |
Chr4:15994057 [GRCh38]
Chr4:15995680 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.557G>A (p.Arg186Gln) |
single nucleotide variant |
not provided [RCV002021374] |
Chr4:16025265 [GRCh38]
Chr4:16026888 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1204A>C (p.Ile402Leu) |
single nucleotide variant |
not provided [RCV002023594] |
Chr4:16009046 [GRCh38]
Chr4:16010669 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1533G>A (p.Val511=) |
single nucleotide variant |
not provided [RCV001913904] |
Chr4:16000541 [GRCh38]
Chr4:16002164 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.11:g.(?_15972690)_(16077529_?)del |
deletion |
not provided [RCV001970204] |
Chr4:15972690..16077529 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NC_000004.11:g.(?_16077290)_(16077529_?)del |
deletion |
not provided [RCV001970205] |
Chr4:16077290..16077529 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2296G>T (p.Ala766Ser) |
single nucleotide variant |
not provided [RCV001983381] |
Chr4:15984340 [GRCh38]
Chr4:15985963 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1603A>C (p.Asn535His) |
single nucleotide variant |
not provided [RCV001966838] |
Chr4:15998464 [GRCh38]
Chr4:16000087 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1767+1G>A |
single nucleotide variant |
not provided [RCV002039254] |
Chr4:15993986 [GRCh38]
Chr4:15995609 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 |
copy number loss |
not provided [RCV001829146] |
Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31 |
pathogenic |
| GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3 |
copy number gain |
not provided [RCV001834299] |
Chr4:9577432..16223471 [GRCh37]
Chr4:4p16.1-15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.83C>T (p.Ala28Val) |
single nucleotide variant |
not provided [RCV001893786] |
Chr4:16075824 [GRCh38]
Chr4:16077447 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.152C>T (p.Pro51Leu) |
single nucleotide variant |
not provided [RCV002023071] |
Chr4:16075755 [GRCh38]
Chr4:16077378 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.133G>A (p.Asp45Asn) |
single nucleotide variant |
not provided [RCV002023758] |
Chr4:16075774 [GRCh38]
Chr4:16077397 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2373+5G>T |
single nucleotide variant |
not provided [RCV001927785] |
Chr4:15984258 [GRCh38]
Chr4:15985881 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.307G>T (p.Val103Phe) |
single nucleotide variant |
not provided [RCV002001889] |
Chr4:16033506 [GRCh38]
Chr4:16035129 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1287G>C (p.Glu429Asp) |
single nucleotide variant |
not provided [RCV001889871] |
Chr4:16008963 [GRCh38]
Chr4:16010586 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2130G>A (p.Leu710=) |
single nucleotide variant |
not provided [RCV002020387] |
Chr4:15987663 [GRCh38]
Chr4:15989286 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.806C>T (p.Ala269Val) |
single nucleotide variant |
not provided [RCV002020805] |
Chr4:16018519 [GRCh38]
Chr4:16020142 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1441G>T (p.Val481Phe) |
single nucleotide variant |
not provided [RCV001887364] |
Chr4:16006551 [GRCh38]
Chr4:16008174 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1022A>G (p.Glu341Gly) |
single nucleotide variant |
not provided [RCV002000341] |
Chr4:16016221 [GRCh38]
Chr4:16017844 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.896G>A (p.Arg299Gln) |
single nucleotide variant |
not provided [RCV001944400] |
Chr4:16018429 [GRCh38]
Chr4:16020052 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1052C>T (p.Thr351Ile) |
single nucleotide variant |
not provided [RCV001878906] |
Chr4:16016191 [GRCh38]
Chr4:16017814 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1189A>C (p.Thr397Pro) |
single nucleotide variant |
not provided [RCV001940975] |
Chr4:16009061 [GRCh38]
Chr4:16010684 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.124G>A (p.Glu42Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004044407]|Retinal dystrophy [RCV003888948]|not provided [RCV001963385] |
Chr4:16075783 [GRCh38]
Chr4:16077406 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1525G>A (p.Ala509Thr) |
single nucleotide variant |
not provided [RCV001999598] |
Chr4:16000549 [GRCh38]
Chr4:16002172 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.11:g.(?_15993851)_(15995714_?)del |
deletion |
not provided [RCV001884100] |
Chr4:15993851..15995714 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1105G>A (p.Asp369Asn) |
single nucleotide variant |
not provided [RCV002019544] |
Chr4:16013311 [GRCh38]
Chr4:16014934 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.754del (p.Val252fs) |
deletion |
not provided [RCV001979040] |
Chr4:16023356 [GRCh38]
Chr4:16024979 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1282dup (p.Glu428fs) |
duplication |
not provided [RCV001999843] |
Chr4:16008967..16008968 [GRCh38]
Chr4:16010590..16010591 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1002G>A (p.Gln334=) |
single nucleotide variant |
not provided [RCV001943418] |
Chr4:16018323 [GRCh38]
Chr4:16019946 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1712G>A (p.Gly571Asp) |
single nucleotide variant |
not provided [RCV001996313] |
Chr4:15994042 [GRCh38]
Chr4:15995665 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1946C>A (p.Ser649Ter) |
single nucleotide variant |
not provided [RCV002035347] |
Chr4:15991259 [GRCh38]
Chr4:15992882 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1615G>A (p.Glu539Lys) |
single nucleotide variant |
not provided [RCV001960770] |
Chr4:15998452 [GRCh38]
Chr4:16000075 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.631C>T (p.Gln211Ter) |
single nucleotide variant |
not provided [RCV001993253] |
Chr4:16024358 [GRCh38]
Chr4:16025981 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.205C>T (p.Arg69Cys) |
single nucleotide variant |
not provided [RCV001888346] |
Chr4:16075702 [GRCh38]
Chr4:16077325 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1301G>A (p.Trp434Ter) |
single nucleotide variant |
not provided [RCV002000216] |
Chr4:16008949 [GRCh38]
Chr4:16010572 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.478A>G (p.Ile160Val) |
single nucleotide variant |
not provided [RCV001993418] |
Chr4:16033335 [GRCh38]
Chr4:16034958 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1074_1076dup (p.Gln359dup) |
duplication |
not provided [RCV001942607] |
Chr4:16016166..16016167 [GRCh38]
Chr4:16017789..16017790 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1645_1648del (p.Lys549fs) |
deletion |
not provided [RCV001975075] |
Chr4:15998419..15998422 [GRCh38]
Chr4:16000042..16000045 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1591C>T (p.Pro531Ser) |
single nucleotide variant |
not provided [RCV001954184] |
Chr4:15998476 [GRCh38]
Chr4:16000099 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1569A>C (p.Glu523Asp) |
single nucleotide variant |
not provided [RCV001933579] |
Chr4:16000505 [GRCh38]
Chr4:16002128 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.392G>T (p.Cys131Phe) |
single nucleotide variant |
not provided [RCV001993579] |
Chr4:16033421 [GRCh38]
Chr4:16035044 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1178T>G (p.Ile393Ser) |
single nucleotide variant |
not provided [RCV002030582] |
Chr4:16009072 [GRCh38]
Chr4:16010695 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1760T>C (p.Ile587Thr) |
single nucleotide variant |
not provided [RCV001921745] |
Chr4:15993994 [GRCh38]
Chr4:15995617 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1450A>G (p.Met484Val) |
single nucleotide variant |
Stargardt disease 4 [RCV002486592]|not provided [RCV002028275] |
Chr4:16006542 [GRCh38]
Chr4:16008165 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.11:g.(?_16017769)_(16017883_?)del |
deletion |
not provided [RCV001920642] |
Chr4:16017769..16017883 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2049A>T (p.Gln683His) |
single nucleotide variant |
not provided [RCV002031097] |
Chr4:15989759 [GRCh38]
Chr4:15991382 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1135G>A (p.Val379Ile) |
single nucleotide variant |
not provided [RCV002015668] |
Chr4:16013281 [GRCh38]
Chr4:16014904 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.221-20T>G |
single nucleotide variant |
not provided [RCV001922504] |
Chr4:16039021 [GRCh38]
Chr4:16040644 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2421G>A (p.Pro807=) |
single nucleotide variant |
not provided [RCV001952171] |
Chr4:15980490 [GRCh38]
Chr4:15982113 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.314A>G (p.Tyr105Cys) |
single nucleotide variant |
not provided [RCV001932845] |
Chr4:16033499 [GRCh38]
Chr4:16035122 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.848A>G (p.Gln283Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004043467]|not provided [RCV001932892] |
Chr4:16018477 [GRCh38]
Chr4:16020100 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.262A>T (p.Ile88Phe) |
single nucleotide variant |
not provided [RCV001901089] |
Chr4:16038960 [GRCh38]
Chr4:16040583 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1906G>T (p.Ala636Ser) |
single nucleotide variant |
not provided [RCV001931664] |
Chr4:15992253 [GRCh38]
Chr4:15993876 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.789C>G (p.Ile263Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004039866]|not provided [RCV001937282] |
Chr4:16018536 [GRCh38]
Chr4:16020159 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2092A>G (p.Ser698Gly) |
single nucleotide variant |
not provided [RCV001973439] |
Chr4:15987701 [GRCh38]
Chr4:15989324 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1406C>T (p.Pro469Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004039867]|not provided [RCV001937293] |
Chr4:16006586 [GRCh38]
Chr4:16008209 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.444G>A (p.Lys148=) |
single nucleotide variant |
not provided [RCV001973597] |
Chr4:16033369 [GRCh38]
Chr4:16034992 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1526C>A (p.Ala509Glu) |
single nucleotide variant |
not provided [RCV001934419] |
Chr4:16000548 [GRCh38]
Chr4:16002171 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1424T>A (p.Val475Asp) |
single nucleotide variant |
Stargardt disease [RCV002466272]|not provided [RCV001866864] |
Chr4:16006568 [GRCh38]
Chr4:16008191 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic|uncertain significance |
| NM_006017.3(PROM1):c.220+6T>G |
single nucleotide variant |
not provided [RCV002046417] |
Chr4:16075681 [GRCh38]
Chr4:16077304 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1327T>C (p.Ser443Pro) |
single nucleotide variant |
not provided [RCV001878413] |
Chr4:16006665 [GRCh38]
Chr4:16008288 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.970A>G (p.Ser324Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004651925]|not provided [RCV002049017] |
Chr4:16018355 [GRCh38]
Chr4:16019978 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.695-11T>G |
single nucleotide variant |
not provided [RCV001998754] |
Chr4:16023426 [GRCh38]
Chr4:16025049 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1276A>G (p.Thr426Ala) |
single nucleotide variant |
not provided [RCV002019996] |
Chr4:16008974 [GRCh38]
Chr4:16010597 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1648_1651del (p.Ser550fs) |
deletion |
not provided [RCV001932469] |
Chr4:15998416..15998419 [GRCh38]
Chr4:16000039..16000042 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1486A>G (p.Ile496Val) |
single nucleotide variant |
not provided [RCV001905806] |
Chr4:16000588 [GRCh38]
Chr4:16002211 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1953A>G (p.Ala651=) |
single nucleotide variant |
not provided [RCV001932566] |
Chr4:15991252 [GRCh38]
Chr4:15992875 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.425A>G (p.Glu142Gly) |
single nucleotide variant |
not provided [RCV001935442] |
Chr4:16033388 [GRCh38]
Chr4:16035011 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.370C>G (p.Pro124Ala) |
single nucleotide variant |
not provided [RCV001898295] |
Chr4:16033443 [GRCh38]
Chr4:16035066 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1423_1424del (p.Val475fs) |
microsatellite |
not provided [RCV002047188] |
Chr4:16006568..16006569 [GRCh38]
Chr4:16008191..16008192 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.221-1_223dup |
duplication |
not provided [RCV001995032] |
Chr4:16038998..16038999 [GRCh38]
Chr4:16040621..16040622 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.673A>C (p.Lys225Gln) |
single nucleotide variant |
not provided [RCV001958032] |
Chr4:16024316 [GRCh38]
Chr4:16025939 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2136A>G (p.Arg712=) |
single nucleotide variant |
not provided [RCV001959383] |
Chr4:15986032 [GRCh38]
Chr4:15987655 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.1887_1890del (p.Met629fs) |
microsatellite |
not provided [RCV001974695] |
Chr4:15992269..15992272 [GRCh38]
Chr4:15993892..15993895 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1660C>G (p.Leu554Val) |
single nucleotide variant |
not provided [RCV001960036] |
Chr4:15998407 [GRCh38]
Chr4:16000030 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1579-3T>G |
single nucleotide variant |
Stargardt disease [RCV002466273]|not provided [RCV001906702] |
Chr4:15998491 [GRCh38]
Chr4:16000114 [GRCh37]
Chr4:4p15.32 |
pathogenic|uncertain significance |
| NM_006017.3(PROM1):c.785-17G>A |
single nucleotide variant |
not provided [RCV002011228] |
Chr4:16018557 [GRCh38]
Chr4:16020180 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.386dup (p.Phe130fs) |
duplication |
not provided [RCV001935709] |
Chr4:16033426..16033427 [GRCh38]
Chr4:16035049..16035050 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1033G>A (p.Val345Ile) |
single nucleotide variant |
not provided [RCV001982118] |
Chr4:16016210 [GRCh38]
Chr4:16017833 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.11:g.(?_15985866)_(15986004_?)del |
deletion |
not provided [RCV001997457] |
Chr4:15985866..15986004 [GRCh37]
Chr4:4p15.32 |
likely pathogenic|uncertain significance |
| NM_006017.3(PROM1):c.1711G>A (p.Gly571Ser) |
single nucleotide variant |
not provided [RCV002050345] |
Chr4:15994043 [GRCh38]
Chr4:15995666 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.11:g.(?_15985866)_(15989359_?)del |
deletion |
not provided [RCV001996870] |
Chr4:15985866..15989359 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.245A>G (p.Lys82Arg) |
single nucleotide variant |
not provided [RCV001960781] |
Chr4:16038977 [GRCh38]
Chr4:16040600 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1922C>T (p.Ser641Phe) |
single nucleotide variant |
not provided [RCV001905053] |
Chr4:15991283 [GRCh38]
Chr4:15992906 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.414A>T (p.Lys138Asn) |
single nucleotide variant |
not provided [RCV001884698] |
Chr4:16033399 [GRCh38]
Chr4:16035022 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2104C>G (p.Leu702Val) |
single nucleotide variant |
not provided [RCV002019606] |
Chr4:15987689 [GRCh38]
Chr4:15989312 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2280+1G>A |
single nucleotide variant |
not provided [RCV001998124] |
Chr4:15985759 [GRCh38]
Chr4:15987382 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.1789G>A (p.Glu597Lys) |
single nucleotide variant |
not provided [RCV001981258] |
Chr4:15992370 [GRCh38]
Chr4:15993993 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2258A>G (p.Tyr753Cys) |
single nucleotide variant |
not provided [RCV001939945] |
Chr4:15985782 [GRCh38]
Chr4:15987405 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.751C>G (p.Pro251Ala) |
single nucleotide variant |
not provided [RCV002046975] |
Chr4:16023359 [GRCh38]
Chr4:16024982 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1042G>A (p.Val348Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002549001]|not provided [RCV002027963] |
Chr4:16016201 [GRCh38]
Chr4:16017824 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2198C>T (p.Ser733Phe) |
single nucleotide variant |
not provided [RCV001991615] |
Chr4:15985970 [GRCh38]
Chr4:15987593 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.11:g.(?_15477557)_(16020183_?)del |
deletion |
Joubert syndrome [RCV001958571] |
Chr4:15477557..16020183 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1651A>G (p.Lys551Glu) |
single nucleotide variant |
not provided [RCV002027084] |
Chr4:15998416 [GRCh38]
Chr4:16000039 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2384G>T (p.Trp795Leu) |
single nucleotide variant |
not provided [RCV001990087] |
Chr4:15980527 [GRCh38]
Chr4:15982150 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1768C>T (p.His590Tyr) |
single nucleotide variant |
not provided [RCV001916931] |
Chr4:15992391 [GRCh38]
Chr4:15994014 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.9C>T (p.Leu3=) |
single nucleotide variant |
PROM1-related disorder [RCV004538693]|not provided [RCV001956699] |
Chr4:16075898 [GRCh38]
Chr4:16077521 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1405C>A (p.Pro469Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004045963]|not provided [RCV002010730] |
Chr4:16006587 [GRCh38]
Chr4:16008210 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2213A>C (p.Glu738Ala) |
single nucleotide variant |
not provided [RCV001979335] |
Chr4:15985827 [GRCh38]
Chr4:15987450 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.605G>A (p.Arg202Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004041228]|not provided [RCV001921944] |
Chr4:16025217 [GRCh38]
Chr4:16026840 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.505A>G (p.Ile169Val) |
single nucleotide variant |
not provided [RCV001900432] |
Chr4:16033308 [GRCh38]
Chr4:16034931 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.361A>T (p.Ile121Phe) |
single nucleotide variant |
not provided [RCV002049362] |
Chr4:16033452 [GRCh38]
Chr4:16035075 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.642T>C (p.Tyr214=) |
single nucleotide variant |
not provided [RCV001956048] |
Chr4:16024347 [GRCh38]
Chr4:16025970 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.532G>A (p.Val178Met) |
single nucleotide variant |
not provided [RCV001995055] |
Chr4:16025290 [GRCh38]
Chr4:16026913 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1147A>G (p.Lys383Glu) |
single nucleotide variant |
not provided [RCV001979379] |
Chr4:16009103 [GRCh38]
Chr4:16010726 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.10G>A (p.Val4Ile) |
single nucleotide variant |
not provided [RCV001978293] |
Chr4:16075897 [GRCh38]
Chr4:16077520 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2212-4C>G |
single nucleotide variant |
not provided [RCV002188608] |
Chr4:15985832 [GRCh38]
Chr4:15987455 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1983+18G>A |
single nucleotide variant |
not provided [RCV002128609] |
Chr4:15991204 [GRCh38]
Chr4:15992827 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.756T>A (p.Val252=) |
single nucleotide variant |
not provided [RCV002168657] |
Chr4:16023354 [GRCh38]
Chr4:16024977 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.111T>A (p.Pro37=) |
single nucleotide variant |
not provided [RCV002087503] |
Chr4:16075796 [GRCh38]
Chr4:16077419 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2374-13T>A |
single nucleotide variant |
not provided [RCV002209002] |
Chr4:15980550 [GRCh38]
Chr4:15982173 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1392C>T (p.Asp464=) |
single nucleotide variant |
not provided [RCV002165558] |
Chr4:16006600 [GRCh38]
Chr4:16008223 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.694+20_694+21del |
deletion |
not provided [RCV002110918] |
Chr4:16024274..16024275 [GRCh38]
Chr4:16025897..16025898 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.276+11A>G |
single nucleotide variant |
not provided [RCV002165487] |
Chr4:16038935 [GRCh38]
Chr4:16040558 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.784+14A>G |
single nucleotide variant |
not provided [RCV002189598] |
Chr4:16023312 [GRCh38]
Chr4:16024935 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2281-16G>A |
single nucleotide variant |
not provided [RCV002209530] |
Chr4:15984371 [GRCh38]
Chr4:15985994 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1179C>T (p.Ile393=) |
single nucleotide variant |
not provided [RCV002091216] |
Chr4:16009071 [GRCh38]
Chr4:16010694 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1077+15A>G |
single nucleotide variant |
not provided [RCV002223607] |
Chr4:16016151 [GRCh38]
Chr4:16017774 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2489+9G>A |
single nucleotide variant |
not provided [RCV002187393] |
Chr4:15980413 [GRCh38]
Chr4:15982036 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.695-10T>G |
single nucleotide variant |
not provided [RCV002188184] |
Chr4:16023425 [GRCh38]
Chr4:16025048 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2281-10A>G |
single nucleotide variant |
not provided [RCV002127537] |
Chr4:15984365 [GRCh38]
Chr4:15985988 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2076+12C>T |
single nucleotide variant |
not provided [RCV002085023] |
Chr4:15989720 [GRCh38]
Chr4:15991343 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1386C>T (p.Gly462=) |
single nucleotide variant |
not provided [RCV002148588] |
Chr4:16006606 [GRCh38]
Chr4:16008229 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1003-11T>C |
single nucleotide variant |
not provided [RCV002146727] |
Chr4:16016251 [GRCh38]
Chr4:16017874 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2212-16T>G |
single nucleotide variant |
not provided [RCV002166552] |
Chr4:15985844 [GRCh38]
Chr4:15987467 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.177G>C (p.Val59=) |
single nucleotide variant |
not provided [RCV002073870] |
Chr4:16075730 [GRCh38]
Chr4:16077353 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2280+19A>G |
single nucleotide variant |
not provided [RCV002207549] |
Chr4:15985741 [GRCh38]
Chr4:15987364 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.630+10A>G |
single nucleotide variant |
not provided [RCV002088130] |
Chr4:16025182 [GRCh38]
Chr4:16026805 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.15C>G (p.Leu5=) |
single nucleotide variant |
not provided [RCV002187702] |
Chr4:16075892 [GRCh38]
Chr4:16077515 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1578+7A>G |
single nucleotide variant |
not provided [RCV002080067] |
Chr4:16000489 [GRCh38]
Chr4:16002112 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2281-22C>G |
single nucleotide variant |
not provided [RCV002153674] |
Chr4:15984377 [GRCh38]
Chr4:15986000 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2489+13G>A |
single nucleotide variant |
not provided [RCV002152445] |
Chr4:15980409 [GRCh38]
Chr4:15982032 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.891C>T (p.Ser297=) |
single nucleotide variant |
not provided [RCV002135131] |
Chr4:16018434 [GRCh38]
Chr4:16020057 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1767+18T>C |
single nucleotide variant |
not provided [RCV002134404] |
Chr4:15993969 [GRCh38]
Chr4:15995592 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.277-14G>A |
single nucleotide variant |
not provided [RCV002134390] |
Chr4:16035775 [GRCh38]
Chr4:16037398 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.888T>A (p.Thr296=) |
single nucleotide variant |
not provided [RCV002146177] |
Chr4:16018437 [GRCh38]
Chr4:16020060 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1078-16T>C |
single nucleotide variant |
not provided [RCV002170390] |
Chr4:16013354 [GRCh38]
Chr4:16014977 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.510-20C>T |
single nucleotide variant |
not provided [RCV002191927] |
Chr4:16025332 [GRCh38]
Chr4:16026955 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1047T>C (p.Leu349=) |
single nucleotide variant |
not provided [RCV002079143] |
Chr4:16016196 [GRCh38]
Chr4:16017819 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.6C>G (p.Ala2=) |
single nucleotide variant |
not provided [RCV002153779] |
Chr4:16075901 [GRCh38]
Chr4:16077524 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1041C>T (p.Asn347=) |
single nucleotide variant |
not provided [RCV002150138] |
Chr4:16016202 [GRCh38]
Chr4:16017825 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2076+17T>C |
single nucleotide variant |
not provided [RCV002146595] |
Chr4:15989715 [GRCh38]
Chr4:15991338 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1984-14T>C |
single nucleotide variant |
not provided [RCV002171177] |
Chr4:15989838 [GRCh38]
Chr4:15991461 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2130+15dup |
duplication |
not provided [RCV002193880] |
Chr4:15987647..15987648 [GRCh38]
Chr4:15989270..15989271 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.277-14G>T |
single nucleotide variant |
not provided [RCV002194609] |
Chr4:16035775 [GRCh38]
Chr4:16037398 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1962A>G (p.Leu654=) |
single nucleotide variant |
not provided [RCV002196490] |
Chr4:15991243 [GRCh38]
Chr4:15992866 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1768-16C>T |
single nucleotide variant |
not provided [RCV002133744] |
Chr4:15992407 [GRCh38]
Chr4:15994030 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.631-17G>A |
single nucleotide variant |
not provided [RCV002092770] |
Chr4:16024375 [GRCh38]
Chr4:16025998 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1716T>C (p.Thr572=) |
single nucleotide variant |
not provided [RCV002077706] |
Chr4:15994038 [GRCh38]
Chr4:15995661 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2478C>T (p.Asp826=) |
single nucleotide variant |
not provided [RCV002076527] |
Chr4:15980433 [GRCh38]
Chr4:15982056 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1182C>T (p.Asp394=) |
single nucleotide variant |
not provided [RCV002169458] |
Chr4:16009068 [GRCh38]
Chr4:16010691 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1596C>T (p.Tyr532=) |
single nucleotide variant |
not provided [RCV002212232] |
Chr4:15998471 [GRCh38]
Chr4:16000094 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.509+13T>C |
single nucleotide variant |
not provided [RCV002166402] |
Chr4:16033291 [GRCh38]
Chr4:16034914 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2076+16G>T |
single nucleotide variant |
not provided [RCV002150709] |
Chr4:15989716 [GRCh38]
Chr4:15991339 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1983+17C>T |
single nucleotide variant |
not provided [RCV002131208] |
Chr4:15991205 [GRCh38]
Chr4:15992828 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2131-16_2131-15del |
microsatellite |
not provided [RCV002159768] |
Chr4:15986052..15986053 [GRCh38]
Chr4:15987675..15987676 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2281-8C>T |
single nucleotide variant |
not provided [RCV002135652] |
Chr4:15984363 [GRCh38]
Chr4:15985986 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1301+11C>T |
single nucleotide variant |
not provided [RCV002135666] |
Chr4:16008938 [GRCh38]
Chr4:16010561 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.876C>A (p.Thr292=) |
single nucleotide variant |
not provided [RCV002082063] |
Chr4:16018449 [GRCh38]
Chr4:16020072 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2028T>A (p.Thr676=) |
single nucleotide variant |
not provided [RCV002156883] |
Chr4:15989780 [GRCh38]
Chr4:15991403 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1320C>T (p.Val440=) |
single nucleotide variant |
not provided [RCV002102612] |
Chr4:16006672 [GRCh38]
Chr4:16008295 [GRCh37]
Chr4:4p15.32 |
likely benign|conflicting interpretations of pathogenicity |
| NM_006017.3(PROM1):c.2131-18T>C |
single nucleotide variant |
not provided [RCV002199676] |
Chr4:15986055 [GRCh38]
Chr4:15987678 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1722C>T (p.His574=) |
single nucleotide variant |
not provided [RCV002181038] |
Chr4:15994032 [GRCh38]
Chr4:15995655 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.279A>G (p.Pro93=) |
single nucleotide variant |
not provided [RCV002163307] |
Chr4:16035759 [GRCh38]
Chr4:16037382 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1302-6C>T |
single nucleotide variant |
not provided [RCV002104236] |
Chr4:16006696 [GRCh38]
Chr4:16008319 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.630+8C>A |
single nucleotide variant |
not provided [RCV002204596] |
Chr4:16025184 [GRCh38]
Chr4:16026807 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.220+19G>A |
single nucleotide variant |
not provided [RCV002136449] |
Chr4:16075668 [GRCh38]
Chr4:16077291 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1410C>A (p.Thr470=) |
single nucleotide variant |
not provided [RCV002160917] |
Chr4:16006582 [GRCh38]
Chr4:16008205 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.220+7G>A |
single nucleotide variant |
not provided [RCV002120642] |
Chr4:16075680 [GRCh38]
Chr4:16077303 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.333A>C (p.Leu111=) |
single nucleotide variant |
not provided [RCV002144012] |
Chr4:16033480 [GRCh38]
Chr4:16035103 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1221A>G (p.Ser407=) |
single nucleotide variant |
not provided [RCV002203087] |
Chr4:16009029 [GRCh38]
Chr4:16010652 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2490-18C>T |
single nucleotide variant |
not provided [RCV002155996] |
Chr4:15979922 [GRCh38]
Chr4:15981545 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.509+10A>G |
single nucleotide variant |
not provided [RCV002144368] |
Chr4:16033294 [GRCh38]
Chr4:16034917 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.221-16G>A |
single nucleotide variant |
not provided [RCV002179162] |
Chr4:16039017 [GRCh38]
Chr4:16040640 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1578+13T>C |
single nucleotide variant |
not provided [RCV002144494] |
Chr4:16000483 [GRCh38]
Chr4:16002106 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1683-18C>T |
single nucleotide variant |
not provided [RCV002184706] |
Chr4:15994089 [GRCh38]
Chr4:15995712 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2374-6_2374-5insTC |
insertion |
not provided [RCV002179890] |
Chr4:15980542..15980543 [GRCh38]
Chr4:15982165..15982166 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1434C>T (p.Thr478=) |
single nucleotide variant |
not provided [RCV002099436] |
Chr4:16006558 [GRCh38]
Chr4:16008181 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.785-16G>T |
single nucleotide variant |
not provided [RCV002137092] |
Chr4:16018556 [GRCh38]
Chr4:16020179 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.613T>C (p.Leu205=) |
single nucleotide variant |
not provided [RCV002197762] |
Chr4:16025209 [GRCh38]
Chr4:16026832 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.585T>C (p.Asp195=) |
single nucleotide variant |
not provided [RCV002216655] |
Chr4:16025237 [GRCh38]
Chr4:16026860 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1593C>T (p.Pro531=) |
single nucleotide variant |
not provided [RCV002083510] |
Chr4:15998474 [GRCh38]
Chr4:16000097 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2374-10T>G |
single nucleotide variant |
not provided [RCV002135743] |
Chr4:15980547 [GRCh38]
Chr4:15982170 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1011C>T (p.Pro337=) |
single nucleotide variant |
not provided [RCV002083815] |
Chr4:16016232 [GRCh38]
Chr4:16017855 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2490-7T>C |
single nucleotide variant |
not provided [RCV002204154] |
Chr4:15979911 [GRCh38]
Chr4:15981534 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2489+19A>G |
single nucleotide variant |
not provided [RCV002138186] |
Chr4:15980403 [GRCh38]
Chr4:15982026 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2077-17_2077-15del |
microsatellite |
not provided [RCV002154914] |
Chr4:15987731..15987733 [GRCh38]
Chr4:15989354..15989356 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2490-11G>A |
single nucleotide variant |
not provided [RCV002217578] |
Chr4:15979915 [GRCh38]
Chr4:15981538 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2077-19A>G |
single nucleotide variant |
not provided [RCV002176622] |
Chr4:15987735 [GRCh38]
Chr4:15989358 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.165C>T (p.Leu55=) |
single nucleotide variant |
not provided [RCV002138491] |
Chr4:16075742 [GRCh38]
Chr4:16077365 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2582+8A>C |
single nucleotide variant |
not provided [RCV002201170] |
Chr4:15979387 [GRCh38]
Chr4:15981010 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.750C>A (p.Ile250=) |
single nucleotide variant |
not provided [RCV002102730] |
Chr4:16023360 [GRCh38]
Chr4:16024983 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NC_000004.11:g.(?_16014878)_(16014981_?)del |
deletion |
not provided [RCV003116477] |
Chr4:16014878..16014981 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NC_000004.11:g.(?_15993851)_(15994034_?)del |
deletion |
not provided [RCV003116478] |
Chr4:15993851..15994034 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.11:g.(?_15972690)_(15972725_?)dup |
duplication |
not provided [RCV003116479] |
Chr4:15972690..15972725 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.11:g.(?_15987363)_(15989359_?)dup |
duplication |
not provided [RCV003116480] |
Chr4:15987363..15989359 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.630+1G>A |
single nucleotide variant |
not provided [RCV003112162] |
Chr4:16025191 [GRCh38]
Chr4:16026814 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.772T>A (p.Ser258Thr) |
single nucleotide variant |
not provided [RCV003121221] |
Chr4:16023338 [GRCh38]
Chr4:16024961 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.11:g.(?_15477557)_(16228080_?)dup |
duplication |
Familial aplasia of the vermis [RCV003122492]|not provided [RCV003122491] |
Chr4:15477557..16228080 [GRCh37]
Chr4:4p15.32 |
uncertain significance|no classifications from unflagged records |
| NM_006017.3(PROM1):c.400C>G (p.Arg134Gly) |
single nucleotide variant |
not provided [RCV003119037] |
Chr4:16033413 [GRCh38]
Chr4:16035036 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1975_1978del (p.Asn659fs) |
deletion |
Retinal macular dystrophy type 2 [RCV004691621] |
Chr4:15991227..15991230 [GRCh38]
Chr4:15992850..15992853 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.1883_1884del (p.Arg628fs) |
deletion |
Retinitis pigmentosa 41 [RCV004691624] |
Chr4:15992275..15992276 [GRCh38]
Chr4:15993898..15993899 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.1463_1466delinsC (p.Gly488_Leu489delinsAla) |
indel |
not provided [RCV002275556] |
Chr4:16000608..16000611 [GRCh38]
Chr4:16002231..16002234 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1902C>G (p.Tyr634Ter) |
single nucleotide variant |
Cone-rod dystrophy 12 [RCV002289076] |
Chr4:15992257 [GRCh38]
Chr4:15993880 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 |
copy number loss |
See cases [RCV002286359] |
Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31 |
pathogenic |
| GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
See cases [RCV002292704] |
Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11 |
pathogenic |
| NM_006017.3(PROM1):c.1494G>C (p.Met498Ile) |
single nucleotide variant |
not provided [RCV002291852] |
Chr4:16000580 [GRCh38]
Chr4:16002203 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.493A>G (p.Ile165Val) |
single nucleotide variant |
not provided [RCV002296946] |
Chr4:16033320 [GRCh38]
Chr4:16034943 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2212-1G>A |
single nucleotide variant |
not provided [RCV003131266] |
Chr4:15985829 [GRCh38]
Chr4:15987452 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.2537A>C (p.Tyr846Ser) |
single nucleotide variant |
not provided [RCV002303456] |
Chr4:15979440 [GRCh38]
Chr4:15981063 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.272A>G (p.Asp91Gly) |
single nucleotide variant |
not provided [RCV002303154] |
Chr4:16038950 [GRCh38]
Chr4:16040573 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2575A>G (p.Met859Val) |
single nucleotide variant |
not provided [RCV002303650] |
Chr4:15979402 [GRCh38]
Chr4:15981025 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.65A>G (p.Gln22Arg) |
single nucleotide variant |
not provided [RCV002305182] |
Chr4:16075842 [GRCh38]
Chr4:16077465 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1965A>C (p.Glu655Asp) |
single nucleotide variant |
not provided [RCV002301930] |
Chr4:15991240 [GRCh38]
Chr4:15992863 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2513A>T (p.Asn838Ile) |
single nucleotide variant |
not provided [RCV002294981] |
Chr4:15979881 [GRCh38]
Chr4:15981504 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2407G>T (p.Val803Leu) |
single nucleotide variant |
not provided [RCV002300183] |
Chr4:15980504 [GRCh38]
Chr4:15982127 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.752C>T (p.Pro251Leu) |
single nucleotide variant |
not provided [RCV002302985] |
Chr4:16023358 [GRCh38]
Chr4:16024981 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.935C>T (p.Ser312Leu) |
single nucleotide variant |
not provided [RCV002296683] |
Chr4:16018390 [GRCh38]
Chr4:16020013 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1922C>A (p.Ser641Tyr) |
single nucleotide variant |
Retinal dystrophy [RCV003889198]|not provided [RCV002995013] |
Chr4:15991283 [GRCh38]
Chr4:15992906 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.660C>G (p.Asn220Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002687238]|not provided [RCV003720655] |
Chr4:16024329 [GRCh38]
Chr4:16025952 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2330C>T (p.Thr777Ile) |
single nucleotide variant |
not provided [RCV002971777] |
Chr4:15984306 [GRCh38]
Chr4:15985929 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.442A>G (p.Lys148Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002817581] |
Chr4:16033371 [GRCh38]
Chr4:16034994 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1141G>A (p.Gly381Ser) |
single nucleotide variant |
not provided [RCV002862171] |
Chr4:16013275 [GRCh38]
Chr4:16014898 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1911+4T>C |
single nucleotide variant |
not provided [RCV002614003] |
Chr4:15992244 [GRCh38]
Chr4:15993867 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2086T>C (p.Tyr696His) |
single nucleotide variant |
Inborn genetic diseases [RCV002733036] |
Chr4:15987707 [GRCh38]
Chr4:15989330 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2301G>A (p.Ser767=) |
single nucleotide variant |
not provided [RCV002993835] |
Chr4:15984335 [GRCh38]
Chr4:15985958 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.880G>C (p.Val294Leu) |
single nucleotide variant |
not provided [RCV003016721] |
Chr4:16018445 [GRCh38]
Chr4:16020068 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1005T>G (p.Leu335=) |
single nucleotide variant |
not provided [RCV002730061] |
Chr4:16016238 [GRCh38]
Chr4:16017861 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1000C>T (p.Gln334Ter) |
single nucleotide variant |
not provided [RCV003033229] |
Chr4:16018325 [GRCh38]
Chr4:16019948 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.295G>T (p.Gly99Cys) |
single nucleotide variant |
not provided [RCV002819657] |
Chr4:16035743 [GRCh38]
Chr4:16037366 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.20C>T (p.Ser7Phe) |
single nucleotide variant |
not provided [RCV002618728] |
Chr4:16075887 [GRCh38]
Chr4:16077510 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1258A>G (p.Ile420Val) |
single nucleotide variant |
not provided [RCV002991446] |
Chr4:16008992 [GRCh38]
Chr4:16010615 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.859C>T (p.Leu287Phe) |
single nucleotide variant |
not provided [RCV002843296] |
Chr4:16018466 [GRCh38]
Chr4:16020089 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.784+9T>C |
single nucleotide variant |
not provided [RCV002755348] |
Chr4:16023317 [GRCh38]
Chr4:16024940 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1414_1415insTCC (p.Thr471_Arg472insLeu) |
insertion |
not provided [RCV003033517] |
Chr4:16006577..16006578 [GRCh38]
Chr4:16008200..16008201 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2076+14A>G |
single nucleotide variant |
not provided [RCV003013146] |
Chr4:15989718 [GRCh38]
Chr4:15991341 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2374-19_2374-17del |
microsatellite |
not provided [RCV002882071] |
Chr4:15980554..15980556 [GRCh38]
Chr4:15982177..15982179 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.25T>C (p.Leu9=) |
single nucleotide variant |
not provided [RCV002614614] |
Chr4:16075882 [GRCh38]
Chr4:16077505 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2076+7G>A |
single nucleotide variant |
not provided [RCV002750829] |
Chr4:15989725 [GRCh38]
Chr4:15991348 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2456A>G (p.Tyr819Cys) |
single nucleotide variant |
not provided [RCV002994810] |
Chr4:15980455 [GRCh38]
Chr4:15982078 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1315C>T (p.Leu439=) |
single nucleotide variant |
not provided [RCV003032585] |
Chr4:16006677 [GRCh38]
Chr4:16008300 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2284A>C (p.Ser762Arg) |
single nucleotide variant |
not provided [RCV002755498] |
Chr4:15984352 [GRCh38]
Chr4:15985975 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2194T>A (p.Ser732Thr) |
single nucleotide variant |
not provided [RCV002839452] |
Chr4:15985974 [GRCh38]
Chr4:15987597 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2019T>A (p.Asp673Glu) |
single nucleotide variant |
not provided [RCV002970597] |
Chr4:15989789 [GRCh38]
Chr4:15991412 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.221-11T>C |
single nucleotide variant |
not provided [RCV002839088] |
Chr4:16039012 [GRCh38]
Chr4:16040635 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2489+1G>A |
single nucleotide variant |
not provided [RCV003014033] |
Chr4:15980421 [GRCh38]
Chr4:15982044 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1002+13G>C |
single nucleotide variant |
not provided [RCV003012114] |
Chr4:16018310 [GRCh38]
Chr4:16019933 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1027G>A (p.Asp343Asn) |
single nucleotide variant |
not provided [RCV003020714] |
Chr4:16016216 [GRCh38]
Chr4:16017839 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2325A>G (p.Leu775=) |
single nucleotide variant |
not provided [RCV002695538] |
Chr4:15984311 [GRCh38]
Chr4:15985934 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1209G>A (p.Gln403=) |
single nucleotide variant |
not provided [RCV003039564] |
Chr4:16009041 [GRCh38]
Chr4:16010664 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.631-13G>T |
single nucleotide variant |
not provided [RCV002622995] |
Chr4:16024371 [GRCh38]
Chr4:16025994 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1210G>A (p.Asp404Asn) |
single nucleotide variant |
not provided [RCV002953751] |
Chr4:16009040 [GRCh38]
Chr4:16010663 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2549A>G (p.His850Arg) |
single nucleotide variant |
not provided [RCV002592225] |
Chr4:15979428 [GRCh38]
Chr4:15981051 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.471C>T (p.Cys157=) |
single nucleotide variant |
not provided [RCV002592993] |
Chr4:16033342 [GRCh38]
Chr4:16034965 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.509+5G>A |
single nucleotide variant |
not provided [RCV002923543] |
Chr4:16033299 [GRCh38]
Chr4:16034922 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1564A>G (p.Lys522Glu) |
single nucleotide variant |
not provided [RCV002923750] |
Chr4:16000510 [GRCh38]
Chr4:16002133 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.731G>C (p.Arg244Pro) |
single nucleotide variant |
not provided [RCV002621288] |
Chr4:16023379 [GRCh38]
Chr4:16025002 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2513+4A>C |
single nucleotide variant |
not provided [RCV002868017] |
Chr4:15979877 [GRCh38]
Chr4:15981500 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1162T>C (p.Ser388Pro) |
single nucleotide variant |
not provided [RCV002923190] |
Chr4:16009088 [GRCh38]
Chr4:16010711 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.303+14C>A |
single nucleotide variant |
not provided [RCV003036517] |
Chr4:16035721 [GRCh38]
Chr4:16037344 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2462G>A (p.Arg821Gln) |
single nucleotide variant |
not provided [RCV002760684] |
Chr4:15980449 [GRCh38]
Chr4:15982072 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2281-8C>A |
single nucleotide variant |
not provided [RCV002569879] |
Chr4:15984363 [GRCh38]
Chr4:15985986 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2269A>T (p.Ile757Phe) |
single nucleotide variant |
not provided [RCV002797270] |
Chr4:15985771 [GRCh38]
Chr4:15987394 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1537A>G (p.Lys513Glu) |
single nucleotide variant |
not provided [RCV003037574] |
Chr4:16000537 [GRCh38]
Chr4:16002160 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2553A>G (p.Val851=) |
single nucleotide variant |
not provided [RCV003018581] |
Chr4:15979424 [GRCh38]
Chr4:15981047 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1539del (p.Lys513fs) |
deletion |
not provided [RCV002867870] |
Chr4:16000535 [GRCh38]
Chr4:16002158 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2409del (p.Leu805fs) |
deletion |
not provided [RCV003036546] |
Chr4:15980502 [GRCh38]
Chr4:15982125 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1474C>G (p.Leu492Val) |
single nucleotide variant |
not provided [RCV002796417] |
Chr4:16000600 [GRCh38]
Chr4:16002223 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1767G>A (p.Glu589=) |
single nucleotide variant |
not provided [RCV002659044] |
Chr4:15993987 [GRCh38]
Chr4:15995610 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2489+20C>T |
single nucleotide variant |
not provided [RCV002569798] |
Chr4:15980402 [GRCh38]
Chr4:15982025 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1960C>T (p.Leu654=) |
single nucleotide variant |
not provided [RCV002756804] |
Chr4:15991245 [GRCh38]
Chr4:15992868 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.303+1G>C |
single nucleotide variant |
not provided [RCV003036364] |
Chr4:16035734 [GRCh38]
Chr4:16037357 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1010C>G (p.Pro337Arg) |
single nucleotide variant |
not provided [RCV003000097] |
Chr4:16016233 [GRCh38]
Chr4:16017856 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.600C>T (p.Asp200=) |
single nucleotide variant |
not provided [RCV002824625] |
Chr4:16025222 [GRCh38]
Chr4:16026845 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.276+17G>T |
single nucleotide variant |
not provided [RCV003053535] |
Chr4:16038929 [GRCh38]
Chr4:16040552 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.76A>G (p.Thr26Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004065756]|not provided [RCV002621310] |
Chr4:16075831 [GRCh38]
Chr4:16077454 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2113A>G (p.Thr705Ala) |
single nucleotide variant |
not provided [RCV002662701] |
Chr4:15987680 [GRCh38]
Chr4:15989303 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1044T>C (p.Val348=) |
single nucleotide variant |
not provided [RCV002923546] |
Chr4:16016199 [GRCh38]
Chr4:16017822 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.631-10_631-8del |
deletion |
not provided [RCV002948614] |
Chr4:16024366..16024368 [GRCh38]
Chr4:16025989..16025991 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1817dup (p.Asn606fs) |
duplication |
not provided [RCV002824108] |
Chr4:15992341..15992342 [GRCh38]
Chr4:15993964..15993965 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1454+10T>C |
single nucleotide variant |
not provided [RCV002866580] |
Chr4:16006528 [GRCh38]
Chr4:16008151 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1012G>A (p.Val338Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003269360]|not provided [RCV002949471] |
Chr4:16016231 [GRCh38]
Chr4:16017854 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1799G>T (p.Ser600Ile) |
single nucleotide variant |
not provided [RCV002885131] |
Chr4:15992360 [GRCh38]
Chr4:15993983 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1179C>G (p.Ile393Met) |
single nucleotide variant |
not provided [RCV003019045] |
Chr4:16009071 [GRCh38]
Chr4:16010694 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2579C>T (p.Thr860Ile) |
single nucleotide variant |
not provided [RCV002658543] |
Chr4:15979398 [GRCh38]
Chr4:15981021 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2374-4C>A |
single nucleotide variant |
not provided [RCV003024885] |
Chr4:15980541 [GRCh38]
Chr4:15982164 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2281-6C>T |
single nucleotide variant |
not provided [RCV002711804] |
Chr4:15984361 [GRCh38]
Chr4:15985984 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.649G>A (p.Ala217Thr) |
single nucleotide variant |
not provided [RCV002745249] |
Chr4:16024340 [GRCh38]
Chr4:16025963 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1383C>T (p.Cys461=) |
single nucleotide variant |
not provided [RCV002666934] |
Chr4:16006609 [GRCh38]
Chr4:16008232 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.614T>C (p.Leu205Ser) |
single nucleotide variant |
not provided [RCV003043236] |
Chr4:16025208 [GRCh38]
Chr4:16026831 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.695-10T>C |
single nucleotide variant |
not provided [RCV003059475] |
Chr4:16023425 [GRCh38]
Chr4:16025048 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2250del (p.Phe750fs) |
deletion |
not provided [RCV002791179] |
Chr4:15985790 [GRCh38]
Chr4:15987413 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.770A>G (p.Lys257Arg) |
single nucleotide variant |
not provided [RCV003043442] |
Chr4:16023340 [GRCh38]
Chr4:16024963 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1187dup (p.Thr397fs) |
duplication |
not provided [RCV002852650] |
Chr4:16009062..16009063 [GRCh38]
Chr4:16010685..16010686 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.2401G>T (p.Ala801Ser) |
single nucleotide variant |
not provided [RCV002805636] |
Chr4:15980510 [GRCh38]
Chr4:15982133 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2584C>G (p.Pro862Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002768167] |
Chr4:15971081 [GRCh38]
Chr4:15972704 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2077-15T>C |
single nucleotide variant |
not provided [RCV002872771] |
Chr4:15987731 [GRCh38]
Chr4:15989354 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2281-4dup |
duplication |
not provided [RCV002853306] |
Chr4:15984358..15984359 [GRCh38]
Chr4:15985981..15985982 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.2076+11_2076+14del |
deletion |
not provided [RCV002594514] |
Chr4:15989718..15989721 [GRCh38]
Chr4:15991341..15991344 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1134C>T (p.Val378=) |
single nucleotide variant |
not provided [RCV002594117] |
Chr4:16013282 [GRCh38]
Chr4:16014905 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.3G>A (p.Met1Ile) |
single nucleotide variant |
not provided [RCV002664339] |
Chr4:16075904 [GRCh38]
Chr4:16077527 [GRCh37]
Chr4:4p15.32 |
likely pathogenic|uncertain significance |
| NM_006017.3(PROM1):c.1455-20A>G |
single nucleotide variant |
not provided [RCV002985394] |
Chr4:16000639 [GRCh38]
Chr4:16002262 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1622A>G (p.Tyr541Cys) |
single nucleotide variant |
not provided [RCV002624499] |
Chr4:15998445 [GRCh38]
Chr4:16000068 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2211+2T>C |
single nucleotide variant |
not provided [RCV002851944] |
Chr4:15985955 [GRCh38]
Chr4:15987578 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1579-3T>C |
single nucleotide variant |
not provided [RCV002663325] |
Chr4:15998491 [GRCh38]
Chr4:16000114 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.221-9T>C |
single nucleotide variant |
not provided [RCV003040860] |
Chr4:16039010 [GRCh38]
Chr4:16040633 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1767+14G>A |
single nucleotide variant |
not provided [RCV002594476] |
Chr4:15993973 [GRCh38]
Chr4:15995596 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.510C>A (p.Ser170Arg) |
single nucleotide variant |
not provided [RCV003024926] |
Chr4:16025312 [GRCh38]
Chr4:16026935 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1813C>G (p.Leu605Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003167456]|not provided [RCV002593668] |
Chr4:15992346 [GRCh38]
Chr4:15993969 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2436G>A (p.Ala812=) |
single nucleotide variant |
not provided [RCV002982183] |
Chr4:15980475 [GRCh38]
Chr4:15982098 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.140A>G (p.His47Arg) |
single nucleotide variant |
not provided [RCV002711296] |
Chr4:16075767 [GRCh38]
Chr4:16077390 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2393T>C (p.Ile798Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002664549] |
Chr4:15980518 [GRCh38]
Chr4:15982141 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1333C>T (p.Leu445=) |
single nucleotide variant |
not provided [RCV003005856] |
Chr4:16006659 [GRCh38]
Chr4:16008282 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1682+19T>C |
single nucleotide variant |
not provided [RCV002642756] |
Chr4:15998366 [GRCh38]
Chr4:15999989 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.162T>G (p.Ile54Met) |
single nucleotide variant |
not provided [RCV003043064] |
Chr4:16075745 [GRCh38]
Chr4:16077368 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2534G>T (p.Gly845Val) |
single nucleotide variant |
not provided [RCV003059293] |
Chr4:15979443 [GRCh38]
Chr4:15981066 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1403C>T (p.Thr468Ile) |
single nucleotide variant |
not provided [RCV003022270] |
Chr4:16006589 [GRCh38]
Chr4:16008212 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.904C>G (p.Leu302Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002935177] |
Chr4:16018421 [GRCh38]
Chr4:16020044 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1655T>C (p.Met552Thr) |
single nucleotide variant |
not provided [RCV002597624] |
Chr4:15998412 [GRCh38]
Chr4:16000035 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.630+1del |
deletion |
not provided [RCV002962196] |
Chr4:16025191 [GRCh38]
Chr4:16026814 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1234T>C (p.Tyr412His) |
single nucleotide variant |
not provided [RCV003049332] |
Chr4:16009016 [GRCh38]
Chr4:16010639 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.980A>G (p.Asn327Ser) |
single nucleotide variant |
not provided [RCV002651823] |
Chr4:16018345 [GRCh38]
Chr4:16019968 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.42C>T (p.Cys14=) |
single nucleotide variant |
not provided [RCV002631956] |
Chr4:16075865 [GRCh38]
Chr4:16077488 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.160A>G (p.Ile54Val) |
single nucleotide variant |
not provided [RCV002967294] |
Chr4:16075747 [GRCh38]
Chr4:16077370 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1422T>C (p.Cys474=) |
single nucleotide variant |
not provided [RCV002856839] |
Chr4:16006570 [GRCh38]
Chr4:16008193 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.341T>A (p.Val114Asp) |
single nucleotide variant |
not provided [RCV003046005] |
Chr4:16033472 [GRCh38]
Chr4:16035095 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1118G>A (p.Arg373His) |
single nucleotide variant |
not provided [RCV002579946] |
Chr4:16013298 [GRCh38]
Chr4:16014921 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.238T>G (p.Leu80Val) |
single nucleotide variant |
not provided [RCV002806969] |
Chr4:16038984 [GRCh38]
Chr4:16040607 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1578+18C>T |
single nucleotide variant |
not provided [RCV002833108] |
Chr4:16000478 [GRCh38]
Chr4:16002101 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2419C>T (p.Pro807Ser) |
single nucleotide variant |
not provided [RCV002746604] |
Chr4:15980492 [GRCh38]
Chr4:15982115 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.937A>G (p.Ser313Gly) |
single nucleotide variant |
not provided [RCV002806292] |
Chr4:16018388 [GRCh38]
Chr4:16020011 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2490-20C>T |
single nucleotide variant |
not provided [RCV002877552] |
Chr4:15979924 [GRCh38]
Chr4:15981547 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2351G>A (p.Cys784Tyr) |
single nucleotide variant |
not provided [RCV002833609] |
Chr4:15984285 [GRCh38]
Chr4:15985908 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2513+11T>A |
single nucleotide variant |
not provided [RCV003028328] |
Chr4:15979870 [GRCh38]
Chr4:15981493 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.694+3G>T |
single nucleotide variant |
not provided [RCV003009486] |
Chr4:16024292 [GRCh38]
Chr4:16025915 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1827G>T (p.Leu609=) |
single nucleotide variant |
not provided [RCV002597459] |
Chr4:15992332 [GRCh38]
Chr4:15993955 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1731C>T (p.Asn577=) |
single nucleotide variant |
not provided [RCV002877427] |
Chr4:15994023 [GRCh38]
Chr4:15995646 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2080A>G (p.Thr694Ala) |
single nucleotide variant |
not provided [RCV002631990] |
Chr4:15987713 [GRCh38]
Chr4:15989336 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2500A>G (p.Ile834Val) |
single nucleotide variant |
not provided [RCV003029466] |
Chr4:15979894 [GRCh38]
Chr4:15981517 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1078-3del |
deletion |
not provided [RCV002649535] |
Chr4:16013341 [GRCh38]
Chr4:16014964 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.260A>G (p.Lys87Arg) |
single nucleotide variant |
not provided [RCV003027880] |
Chr4:16038962 [GRCh38]
Chr4:16040585 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2490-17T>C |
single nucleotide variant |
not provided [RCV002631470] |
Chr4:15979921 [GRCh38]
Chr4:15981544 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.429G>T (p.Met143Ile) |
single nucleotide variant |
not provided [RCV002806554] |
Chr4:16033384 [GRCh38]
Chr4:16035007 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2046G>A (p.Gln682=) |
single nucleotide variant |
not provided [RCV003044860] |
Chr4:15989762 [GRCh38]
Chr4:15991385 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.22C>T (p.Leu8=) |
single nucleotide variant |
not provided [RCV002811599] |
Chr4:16075885 [GRCh38]
Chr4:16077508 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1855C>T (p.Gln619Ter) |
single nucleotide variant |
not provided [RCV002966383] |
Chr4:15992304 [GRCh38]
Chr4:15993927 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1373G>A (p.Cys458Tyr) |
single nucleotide variant |
not provided [RCV003091116] |
Chr4:16006619 [GRCh38]
Chr4:16008242 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2207T>C (p.Ile736Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004064524]|not provided [RCV002578144] |
Chr4:15985961 [GRCh38]
Chr4:15987584 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.782C>T (p.Thr261Ile) |
single nucleotide variant |
not provided [RCV002938796] |
Chr4:16023328 [GRCh38]
Chr4:16024951 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.381G>A (p.Gly127=) |
single nucleotide variant |
not provided [RCV002856277] |
Chr4:16033432 [GRCh38]
Chr4:16035055 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.347G>T (p.Gly116Val) |
single nucleotide variant |
not provided [RCV002834392] |
Chr4:16033466 [GRCh38]
Chr4:16035089 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.916C>T (p.Leu306=) |
single nucleotide variant |
not provided [RCV002597630] |
Chr4:16018409 [GRCh38]
Chr4:16020032 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.304-12_304-9del |
microsatellite |
not provided [RCV002630324] |
Chr4:16033518..16033521 [GRCh38]
Chr4:16035141..16035144 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1931G>A (p.Gly644Glu) |
single nucleotide variant |
not provided [RCV002856114] |
Chr4:15991274 [GRCh38]
Chr4:15992897 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1970A>G (p.Lys657Arg) |
single nucleotide variant |
not provided [RCV002720907] |
Chr4:15991235 [GRCh38]
Chr4:15992858 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2383T>C (p.Trp795Arg) |
single nucleotide variant |
not provided [RCV002651821] |
Chr4:15980528 [GRCh38]
Chr4:15982151 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1911+1G>A |
single nucleotide variant |
not provided [RCV002651822] |
Chr4:15992247 [GRCh38]
Chr4:15993870 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1555T>G (p.Tyr519Asp) |
single nucleotide variant |
not provided [RCV002676122] |
Chr4:16000519 [GRCh38]
Chr4:16002142 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1584G>A (p.Leu528=) |
single nucleotide variant |
not provided [RCV003061548] |
Chr4:15998483 [GRCh38]
Chr4:16000106 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.169G>A (p.Glu57Lys) |
single nucleotide variant |
not provided [RCV002646423] |
Chr4:16075738 [GRCh38]
Chr4:16077361 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2374-5C>T |
single nucleotide variant |
not provided [RCV002603979] |
Chr4:15980542 [GRCh38]
Chr4:15982165 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.216A>G (p.Pro72=) |
single nucleotide variant |
not provided [RCV003093461] |
Chr4:16075691 [GRCh38]
Chr4:16077314 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1142G>A (p.Gly381Asp) |
single nucleotide variant |
not provided [RCV002635123] |
Chr4:16009108 [GRCh38]
Chr4:16010731 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1882A>G (p.Arg628Gly) |
single nucleotide variant |
not provided [RCV002653614] |
Chr4:15992277 [GRCh38]
Chr4:15993900 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.603G>A (p.Leu201=) |
single nucleotide variant |
not provided [RCV002721318] |
Chr4:16025219 [GRCh38]
Chr4:16026842 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1683-5C>T |
single nucleotide variant |
not provided [RCV002814411] |
Chr4:15994076 [GRCh38]
Chr4:15995699 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1071C>T (p.Val357=) |
single nucleotide variant |
not provided [RCV002942380] |
Chr4:16016172 [GRCh38]
Chr4:16017795 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1901A>G (p.Tyr634Cys) |
single nucleotide variant |
not provided [RCV002605101] |
Chr4:15992258 [GRCh38]
Chr4:15993881 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.204G>A (p.Pro68=) |
single nucleotide variant |
not provided [RCV002725664] |
Chr4:16075703 [GRCh38]
Chr4:16077326 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.43G>A (p.Gly15Arg) |
single nucleotide variant |
not provided [RCV002586114] |
Chr4:16075864 [GRCh38]
Chr4:16077487 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1360C>G (p.Leu454Val) |
single nucleotide variant |
not provided [RCV002584561] |
Chr4:16006632 [GRCh38]
Chr4:16008255 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1984-20G>C |
single nucleotide variant |
not provided [RCV002608110] |
Chr4:15989844 [GRCh38]
Chr4:15991467 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1077+8T>G |
single nucleotide variant |
PROM1-related disorder [RCV004545377]|not provided [RCV002721498] |
Chr4:16016158 [GRCh38]
Chr4:16017781 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2020G>A (p.Ala674Thr) |
single nucleotide variant |
not provided [RCV003069434] |
Chr4:15989788 [GRCh38]
Chr4:15991411 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1767+14G>T |
single nucleotide variant |
not provided [RCV002589673] |
Chr4:15993973 [GRCh38]
Chr4:15995596 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2545G>A (p.Asp849Asn) |
single nucleotide variant |
not provided [RCV002584526] |
Chr4:15979432 [GRCh38]
Chr4:15981055 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.630G>A (p.Glu210=) |
single nucleotide variant |
not provided [RCV002676721] |
Chr4:16025192 [GRCh38]
Chr4:16026815 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.893T>A (p.Leu298Gln) |
single nucleotide variant |
Retinal dystrophy [RCV003889222]|not provided [RCV003068907] |
Chr4:16018432 [GRCh38]
Chr4:16020055 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.91G>C (p.Ala31Pro) |
single nucleotide variant |
not provided [RCV003093565] |
Chr4:16075816 [GRCh38]
Chr4:16077439 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.161T>C (p.Ile54Thr) |
single nucleotide variant |
not provided [RCV003073072] |
Chr4:16075746 [GRCh38]
Chr4:16077369 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1767+17A>T |
single nucleotide variant |
not provided [RCV002943452] |
Chr4:15993970 [GRCh38]
Chr4:15995593 [GRCh37]
Chr4:4p15.32 |
likely benign |
| GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) |
copy number loss |
4p partial monosomy syndrome [RCV003155905] |
Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14 |
pathogenic |
| NM_006017.3(PROM1):c.1559C>G (p.Thr520Arg) |
single nucleotide variant |
not provided [RCV003223161] |
Chr4:16000515 [GRCh38]
Chr4:16002138 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1078G>A (p.Gly360Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003221185] |
Chr4:16013338 [GRCh38]
Chr4:16014961 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2118del (p.Asn707fs) |
deletion |
Cone-rod dystrophy 12 [RCV003226085] |
Chr4:15987675 [GRCh38]
Chr4:15989298 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.823A>G (p.Ser275Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003210367] |
Chr4:16018502 [GRCh38]
Chr4:16020125 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.749T>C (p.Ile250Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003194868] |
Chr4:16023361 [GRCh38]
Chr4:16024984 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) |
copy number gain |
4p16.3 microduplication syndrome [RCV003319592] |
Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1 |
pathogenic |
| NM_006017.3(PROM1):c.2267G>A (p.Trp756Ter) |
single nucleotide variant |
Cone-rod dystrophy [RCV003324707] |
Chr4:15985773 [GRCh38]
Chr4:15987396 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327612] |
Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13 |
pathogenic |
| GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327613] |
Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12 |
pathogenic |
| GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327611] |
Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11 |
pathogenic |
| GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 |
copy number loss |
not provided [RCV003334269] |
Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1577G>T (p.Arg526Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003347514] |
Chr4:16000497 [GRCh38]
Chr4:16002120 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2004C>A (p.Asn668Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003354626] |
Chr4:15989804 [GRCh38]
Chr4:15991427 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1 |
copy number loss |
not provided [RCV003485415] |
Chr4:12238766..23083496 [GRCh37]
Chr4:4p15.33-15.2 |
likely pathogenic |
| NM_006017.3(PROM1):c.102T>C (p.Tyr34=) |
single nucleotide variant |
not provided [RCV003434982] |
Chr4:16075805 [GRCh38]
Chr4:16077428 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2281-6C>A |
single nucleotide variant |
not provided [RCV003849356] |
Chr4:15984361 [GRCh38]
Chr4:15985984 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1154T>C (p.Val385Ala) |
single nucleotide variant |
not provided [RCV003576889] |
Chr4:16009096 [GRCh38]
Chr4:16010719 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1806G>A (p.Lys602=) |
single nucleotide variant |
not provided [RCV003740330] |
Chr4:15992353 [GRCh38]
Chr4:15993976 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1874G>T (p.Gly625Val) |
single nucleotide variant |
not provided [RCV003575896] |
Chr4:15992285 [GRCh38]
Chr4:15993908 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1572A>C (p.Leu524Phe) |
single nucleotide variant |
PROM1-related disorder [RCV004736416]|not provided [RCV003831346] |
Chr4:16000502 [GRCh38]
Chr4:16002125 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1142G>T (p.Gly381Val) |
single nucleotide variant |
not provided [RCV003695768] |
Chr4:16009108 [GRCh38]
Chr4:16010731 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1260C>T (p.Ile420=) |
single nucleotide variant |
not provided [RCV003692589] |
Chr4:16008990 [GRCh38]
Chr4:16010613 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.439C>G (p.Gln147Glu) |
single nucleotide variant |
not provided [RCV003573812] |
Chr4:16033374 [GRCh38]
Chr4:16034997 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2501T>C (p.Ile834Thr) |
single nucleotide variant |
not provided [RCV003661429] |
Chr4:15979893 [GRCh38]
Chr4:15981516 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2582+16G>A |
single nucleotide variant |
not provided [RCV003826869] |
Chr4:15979379 [GRCh38]
Chr4:15981002 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2231G>C (p.Arg744Thr) |
single nucleotide variant |
not provided [RCV003488308] |
Chr4:15985809 [GRCh38]
Chr4:15987432 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.663T>C (p.Thr221=) |
single nucleotide variant |
Retinal dystrophy [RCV003889321]|not provided [RCV003691349] |
Chr4:16024326 [GRCh38]
Chr4:16025949 [GRCh37]
Chr4:4p15.32 |
likely benign|uncertain significance |
| NM_006017.3(PROM1):c.2534G>C (p.Gly845Ala) |
single nucleotide variant |
not provided [RCV003877978] |
Chr4:15979443 [GRCh38]
Chr4:15981066 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1099A>G (p.Ile367Val) |
single nucleotide variant |
not provided [RCV003572137] |
Chr4:16013317 [GRCh38]
Chr4:16014940 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2490-12dup |
duplication |
not provided [RCV003828513] |
Chr4:15979915..15979916 [GRCh38]
Chr4:15981538..15981539 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.59G>T (p.Gly20Val) |
single nucleotide variant |
not provided [RCV003825034] |
Chr4:16075848 [GRCh38]
Chr4:16077471 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.369G>A (p.Met123Ile) |
single nucleotide variant |
not provided [RCV003574276] |
Chr4:16033444 [GRCh38]
Chr4:16035067 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2280+4A>T |
single nucleotide variant |
not provided [RCV003694955] |
Chr4:15985756 [GRCh38]
Chr4:15987379 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.630+16T>C |
single nucleotide variant |
not provided [RCV003666067] |
Chr4:16025176 [GRCh38]
Chr4:16026799 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1108A>G (p.Arg370Gly) |
single nucleotide variant |
not provided [RCV003826058] |
Chr4:16013308 [GRCh38]
Chr4:16014931 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1989A>G (p.Pro663=) |
single nucleotide variant |
not provided [RCV003686746] |
Chr4:15989819 [GRCh38]
Chr4:15991442 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1709dup (p.Tyr570Ter) |
duplication |
Retinal macular dystrophy type 2 [RCV004691622]|not provided [RCV003779373] |
Chr4:15994044..15994045 [GRCh38]
Chr4:15995667..15995668 [GRCh37]
Chr4:4p15.32 |
pathogenic|likely pathogenic |
| NM_006017.3(PROM1):c.768T>C (p.Ile256=) |
single nucleotide variant |
not provided [RCV003851150] |
Chr4:16023342 [GRCh38]
Chr4:16024965 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2077-14_2077-13del |
deletion |
not provided [RCV003665902] |
Chr4:15987729..15987730 [GRCh38]
Chr4:15989352..15989353 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.695-13T>C |
single nucleotide variant |
not provided [RCV003699330] |
Chr4:16023428 [GRCh38]
Chr4:16025051 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.371C>T (p.Pro124Leu) |
single nucleotide variant |
not provided [RCV003664057] |
Chr4:16033442 [GRCh38]
Chr4:16035065 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2130+3A>G |
single nucleotide variant |
not provided [RCV003666751] |
Chr4:15987660 [GRCh38]
Chr4:15989283 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1838C>T (p.Ala613Val) |
single nucleotide variant |
not provided [RCV003837008] |
Chr4:15992321 [GRCh38]
Chr4:15993944 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1811A>G (p.Asn604Ser) |
single nucleotide variant |
not provided [RCV003665859] |
Chr4:15992348 [GRCh38]
Chr4:15993971 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1748A>G (p.Glu583Gly) |
single nucleotide variant |
not provided [RCV003659274] |
Chr4:15994006 [GRCh38]
Chr4:15995629 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1966G>A (p.Ala656Thr) |
single nucleotide variant |
not provided [RCV003850250] |
Chr4:15991239 [GRCh38]
Chr4:15992862 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1002+12T>C |
single nucleotide variant |
not provided [RCV003703495] |
Chr4:16018311 [GRCh38]
Chr4:16019934 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.348G>A (p.Gly116=) |
single nucleotide variant |
not provided [RCV003664881] |
Chr4:16033465 [GRCh38]
Chr4:16035088 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2583-10dup |
duplication |
not provided [RCV003814053] |
Chr4:15971091..15971092 [GRCh38]
Chr4:15972714..15972715 [GRCh37]
Chr4:4p15.32 |
benign |
| NM_006017.3(PROM1):c.1078-20T>C |
single nucleotide variant |
not provided [RCV003668533] |
Chr4:16013358 [GRCh38]
Chr4:16014981 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.220+20A>C |
single nucleotide variant |
not provided [RCV003855732] |
Chr4:16075667 [GRCh38]
Chr4:16077290 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2453A>G (p.Tyr818Cys) |
single nucleotide variant |
not provided [RCV003671772] |
Chr4:15980458 [GRCh38]
Chr4:15982081 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1984-8T>C |
single nucleotide variant |
not provided [RCV003697534] |
Chr4:15989832 [GRCh38]
Chr4:15991455 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.544C>T (p.Gln182Ter) |
single nucleotide variant |
not provided [RCV003672112] |
Chr4:16025278 [GRCh38]
Chr4:16026901 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1605T>G (p.Asn535Lys) |
single nucleotide variant |
PROM1-related disorder [RCV004723401]|not provided [RCV003666567] |
Chr4:15998462 [GRCh38]
Chr4:16000085 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.241C>T (p.Gln81Ter) |
single nucleotide variant |
not provided [RCV003699314] |
Chr4:16038981 [GRCh38]
Chr4:16040604 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1341C>T (p.Leu447=) |
single nucleotide variant |
not provided [RCV003668184] |
Chr4:16006651 [GRCh38]
Chr4:16008274 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1951G>T (p.Ala651Ser) |
single nucleotide variant |
not provided [RCV003559357] |
Chr4:15991254 [GRCh38]
Chr4:15992877 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2374-8T>C |
single nucleotide variant |
not provided [RCV003833179] |
Chr4:15980545 [GRCh38]
Chr4:15982168 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1695A>C (p.Lys565Asn) |
single nucleotide variant |
not provided [RCV003701627] |
Chr4:15994059 [GRCh38]
Chr4:15995682 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.178C>T (p.His60Tyr) |
single nucleotide variant |
not provided [RCV003671008] |
Chr4:16075729 [GRCh38]
Chr4:16077352 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2076+13G>A |
single nucleotide variant |
not provided [RCV003837377] |
Chr4:15989719 [GRCh38]
Chr4:15991342 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2335G>A (p.Val779Ile) |
single nucleotide variant |
not provided [RCV003580344] |
Chr4:15984301 [GRCh38]
Chr4:15985924 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2011A>T (p.Lys671Ter) |
single nucleotide variant |
not provided [RCV003555148] |
Chr4:15989797 [GRCh38]
Chr4:15991420 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1440C>T (p.Gly480=) |
single nucleotide variant |
PROM1-related disorder [RCV004539165]|not provided [RCV003842984] |
Chr4:16006552 [GRCh38]
Chr4:16008175 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1551A>G (p.Glu517=) |
single nucleotide variant |
not provided [RCV003734590] |
Chr4:16000523 [GRCh38]
Chr4:16002146 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.206G>A (p.Arg69His) |
single nucleotide variant |
not provided [RCV003847736] |
Chr4:16075701 [GRCh38]
Chr4:16077324 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2167G>T (p.Ala723Ser) |
single nucleotide variant |
not provided [RCV003676625] |
Chr4:15986001 [GRCh38]
Chr4:15987624 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2531A>G (p.Asn844Ser) |
single nucleotide variant |
not provided [RCV003564024] |
Chr4:15979446 [GRCh38]
Chr4:15981069 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1003-126_1008del |
deletion |
not provided [RCV003677666] |
Chr4:16016235..16016366 [GRCh38]
Chr4:16017858..16017989 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.1273C>T (p.Pro425Ser) |
single nucleotide variant |
not provided [RCV003844326] |
Chr4:16008977 [GRCh38]
Chr4:16010600 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1599A>C (p.Leu533Phe) |
single nucleotide variant |
not provided [RCV003707428] |
Chr4:15998468 [GRCh38]
Chr4:16000091 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.736A>G (p.Arg246Gly) |
single nucleotide variant |
not provided [RCV003675077] |
Chr4:16023374 [GRCh38]
Chr4:16024997 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1767+3A>G |
single nucleotide variant |
not provided [RCV003859553] |
Chr4:15993984 [GRCh38]
Chr4:15995607 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1767G>T (p.Glu589Asp) |
single nucleotide variant |
not provided [RCV003563404] |
Chr4:15993987 [GRCh38]
Chr4:15995610 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1911+18A>G |
single nucleotide variant |
not provided [RCV003863657] |
Chr4:15992230 [GRCh38]
Chr4:15993853 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1116A>G (p.Gln372=) |
single nucleotide variant |
not provided [RCV003685896] |
Chr4:16013300 [GRCh38]
Chr4:16014923 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2299T>A (p.Ser767Thr) |
single nucleotide variant |
not provided [RCV003821457] |
Chr4:15984337 [GRCh38]
Chr4:15985960 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.813G>A (p.Glu271=) |
single nucleotide variant |
not provided [RCV003868143] |
Chr4:16018512 [GRCh38]
Chr4:16020135 [GRCh37]
Chr4:4p15.32 |
likely benign |
| GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 |
copy number loss |
not specified [RCV003986488] |
Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31 |
pathogenic |
| NM_006017.3(PROM1):c.510-20CT[2] |
microsatellite |
not provided [RCV003684776] |
Chr4:16025327..16025328 [GRCh38]
Chr4:16026950..16026951 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2077-521A>T |
single nucleotide variant |
not provided [RCV003706010] |
Chr4:15988237 [GRCh38]
Chr4:15989860 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1820T>A (p.Ile607Asn) |
single nucleotide variant |
not provided [RCV003684969] |
Chr4:15992339 [GRCh38]
Chr4:15993962 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2042A>G (p.His681Arg) |
single nucleotide variant |
not provided [RCV003863202] |
Chr4:15989766 [GRCh38]
Chr4:15991389 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1744del (p.Ser582fs) |
deletion |
not provided [RCV003721058] |
Chr4:15994010 [GRCh38]
Chr4:15995633 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1877T>G (p.Ile626Arg) |
single nucleotide variant |
not provided [RCV003682530] |
Chr4:15992282 [GRCh38]
Chr4:15993905 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.16G>A (p.Gly6Ser) |
single nucleotide variant |
not provided [RCV003847339] |
Chr4:16075891 [GRCh38]
Chr4:16077514 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1388A>G (p.Tyr463Cys) |
single nucleotide variant |
not provided [RCV003737479] |
Chr4:16006604 [GRCh38]
Chr4:16008227 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 |
copy number loss |
not specified [RCV003986512] |
Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31 |
pathogenic |
| NM_006017.3(PROM1):c.1638A>G (p.Leu546=) |
single nucleotide variant |
not provided [RCV003821433] |
Chr4:15998429 [GRCh38]
Chr4:16000052 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1983+14G>C |
single nucleotide variant |
not provided [RCV003541855] |
Chr4:15991208 [GRCh38]
Chr4:15992831 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.554C>T (p.Thr185Ile) |
single nucleotide variant |
not provided [RCV003860578] |
Chr4:16025268 [GRCh38]
Chr4:16026891 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1142-14A>G |
single nucleotide variant |
not provided [RCV003861795] |
Chr4:16009122 [GRCh38]
Chr4:16010745 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2572G>T (p.Val858Phe) |
single nucleotide variant |
not provided [RCV003551236] |
Chr4:15979405 [GRCh38]
Chr4:15981028 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.918G>A (p.Leu306=) |
single nucleotide variant |
not provided [RCV003568910] |
Chr4:16018407 [GRCh38]
Chr4:16020030 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1415G>A (p.Arg472Gln) |
single nucleotide variant |
not provided [RCV003842886] |
Chr4:16006577 [GRCh38]
Chr4:16008200 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2315C>T (p.Ala772Val) |
single nucleotide variant |
not provided [RCV003847373] |
Chr4:15984321 [GRCh38]
Chr4:15985944 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.759T>C (p.Leu253=) |
single nucleotide variant |
not provided [RCV003566160] |
Chr4:16023351 [GRCh38]
Chr4:16024974 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.277-19C>A |
single nucleotide variant |
not provided [RCV003861166] |
Chr4:16035780 [GRCh38]
Chr4:16037403 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1444T>G (p.Phe482Val) |
single nucleotide variant |
not provided [RCV003679929] |
Chr4:16006548 [GRCh38]
Chr4:16008171 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2489+18C>T |
single nucleotide variant |
not provided [RCV003864400] |
Chr4:15980404 [GRCh38]
Chr4:15982027 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.789C>A (p.Ile263=) |
single nucleotide variant |
not provided [RCV003676009] |
Chr4:16018536 [GRCh38]
Chr4:16020159 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.42C>G (p.Cys14Trp) |
single nucleotide variant |
not provided [RCV003858360] |
Chr4:16075865 [GRCh38]
Chr4:16077488 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.671A>G (p.Asp224Gly) |
single nucleotide variant |
not provided [RCV003822947] |
Chr4:16024318 [GRCh38]
Chr4:16025941 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1438G>A (p.Gly480Ser) |
single nucleotide variant |
Retinal dystrophy [RCV003890890] |
Chr4:16006554 [GRCh38]
Chr4:16008177 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1745G>T (p.Ser582Ile) |
single nucleotide variant |
Retinal dystrophy [RCV003890887] |
Chr4:15994009 [GRCh38]
Chr4:15995632 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1407G>T (p.Pro469=) |
single nucleotide variant |
Retinal dystrophy [RCV003890891] |
Chr4:16006585 [GRCh38]
Chr4:16008208 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1259T>C (p.Ile420Thr) |
single nucleotide variant |
Retinal dystrophy [RCV003890893] |
Chr4:16008991 [GRCh38]
Chr4:16010614 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1767+6T>G |
single nucleotide variant |
PROM1-related disorder [RCV004532068] |
Chr4:15993981 [GRCh38]
Chr4:15995604 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1363G>C (p.Gly455Arg) |
single nucleotide variant |
Retinal dystrophy [RCV003890892] |
Chr4:16006629 [GRCh38]
Chr4:16008252 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.631-2A>C |
single nucleotide variant |
Retinal dystrophy [RCV003890900] |
Chr4:16024360 [GRCh38]
Chr4:16025983 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2357A>G (p.Tyr786Cys) |
single nucleotide variant |
Retinal dystrophy [RCV003890885] |
Chr4:15984279 [GRCh38]
Chr4:15985902 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1659G>A (p.Lys553=) |
single nucleotide variant |
Retinal dystrophy [RCV003890888] |
Chr4:15998408 [GRCh38]
Chr4:16000031 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.2464A>G (p.Met822Val) |
single nucleotide variant |
Retinal dystrophy [RCV003890884] |
Chr4:15980447 [GRCh38]
Chr4:15982070 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1215A>G (p.Ile405Met) |
single nucleotide variant |
Retinal dystrophy [RCV003890894] |
Chr4:16009035 [GRCh38]
Chr4:16010658 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.910G>A (p.Asp304Asn) |
single nucleotide variant |
Retinal dystrophy [RCV003890896] |
Chr4:16018415 [GRCh38]
Chr4:16020038 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1545C>T (p.Ile515=) |
single nucleotide variant |
Retinal dystrophy [RCV003890889] |
Chr4:16000529 [GRCh38]
Chr4:16002152 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1151G>A (p.Arg384Lys) |
single nucleotide variant |
Retinal dystrophy [RCV003890895] |
Chr4:16009099 [GRCh38]
Chr4:16010722 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.676G>A (p.Ala226Thr) |
single nucleotide variant |
Retinal dystrophy [RCV003890899] |
Chr4:16024313 [GRCh38]
Chr4:16025936 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2547T>A (p.Asp849Glu) |
single nucleotide variant |
Retinal dystrophy [RCV003890883] |
Chr4:15979430 [GRCh38]
Chr4:15981053 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1926del (p.Ala643fs) |
deletion |
Retinal dystrophy [RCV003890886] |
Chr4:15991279 [GRCh38]
Chr4:15992902 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.719G>T (p.Gly240Val) |
single nucleotide variant |
Retinal dystrophy [RCV003890897] |
Chr4:16023391 [GRCh38]
Chr4:16025014 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.718G>T (p.Gly240Ter) |
single nucleotide variant |
Retinal dystrophy [RCV003890898] |
Chr4:16023392 [GRCh38]
Chr4:16025015 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.509+1G>A |
single nucleotide variant |
Retinitis pigmentosa 41 [RCV003991387] |
Chr4:16033303 [GRCh38]
Chr4:16034926 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.817A>G (p.Met273Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004507381] |
Chr4:16018508 [GRCh38]
Chr4:16020131 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1696A>C (p.Asn566His) |
single nucleotide variant |
Inborn genetic diseases [RCV004507376] |
Chr4:15994058 [GRCh38]
Chr4:15995681 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2018A>T (p.Asp673Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004507378] |
Chr4:15989790 [GRCh38]
Chr4:15991413 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2294T>C (p.Val765Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004507379] |
Chr4:15984342 [GRCh38]
Chr4:15985965 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.638A>G (p.Lys213Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004507380] |
Chr4:16024351 [GRCh38]
Chr4:16025974 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1499T>C (p.Ile500Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004507375] |
Chr4:16000575 [GRCh38]
Chr4:16002198 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.11:g.(?_15980998)_(15982180_?)del |
deletion |
not provided [RCV004580849] |
Chr4:15980998..15982180 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.11:g.(?_16077290)_(16077529_?)dup |
duplication |
not provided [RCV004580850] |
Chr4:16077290..16077529 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NC_000004.11:g.(?_15972690)_(16228080_?)del |
deletion |
not provided [RCV004580883] |
Chr4:15972690..16228080 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1675G>A (p.Val559Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004660345] |
Chr4:15998392 [GRCh38]
Chr4:16000015 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.914dup (p.Leu306fs) |
duplication |
Cone-rod dystrophy 12 [RCV004696843] |
Chr4:16018410..16018411 [GRCh38]
Chr4:16020033..16020034 [GRCh37]
Chr4:4p15.32 |
pathogenic |
| NM_006017.3(PROM1):c.1132G>A (p.Val378Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004660346] |
Chr4:16013284 [GRCh38]
Chr4:16014907 [GRCh37]
Chr4:4p15.32 |
likely benign |
| NM_006017.3(PROM1):c.1984-1G>A |
single nucleotide variant |
Stargardt disease 4 [RCV004586423] |
Chr4:15989825 [GRCh38]
Chr4:15991448 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.459C>G (p.Phe153Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004660344] |
Chr4:16033354 [GRCh38]
Chr4:16034977 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.1111G>A (p.Val371Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004648820] |
Chr4:16013305 [GRCh38]
Chr4:16014928 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.367A>T (p.Met123Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004648822] |
Chr4:16033446 [GRCh38]
Chr4:16035069 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.413A>G (p.Lys138Arg) |
single nucleotide variant |
not provided [RCV004724114] |
Chr4:16033400 [GRCh38]
Chr4:16035023 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
| NM_006017.3(PROM1):c.2366del (p.Asp789fs) |
deletion |
Retinal macular dystrophy type 2 [RCV004764536] |
Chr4:15984270 [GRCh38]
Chr4:15985893 [GRCh37]
Chr4:4p15.32 |
likely pathogenic |
| NM_006017.3(PROM1):c.1897A>G (p.Ser633Gly) |
single nucleotide variant |
not provided [RCV004768311] |
Chr4:15992262 [GRCh38]
Chr4:15993885 [GRCh37]
Chr4:4p15.32 |
uncertain significance |
