Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_025074.7(FRAS1):c.-422C>G | 80144 | FRAS1 | Uncertain significance | rs886059622 | RCV000261189; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 78978742 | 78978742 | C | G | NC_000004.11:g.78978742C>G | ClinGen:CA10618270 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.-257G>T | 80144 | FRAS1 | Benign | rs78363185 | RCV000318768; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 78978907 | 78978907 | G | T | 4:g.78978907G>T | ClinGen:CA10619218 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.-245C>G | 80144 | FRAS1 | Uncertain significance | rs886059623 | RCV000385592; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 78978919 | 78978919 | C | G | 4:g.78978919C>G | ClinGen:CA10618277 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.-233A>T | 80144 | FRAS1 | Uncertain significance | rs566584457 | RCV001156614; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 78978931 | 78978931 | A | T | 4:g.78978931A>T | - | | |
NM_025074.7(FRAS1):c.-188C>T | 80144 | FRAS1 | Uncertain significance | rs886059624 | RCV000293567; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 78978976 | 78978976 | C | T | NC_000004.11:g.78978976C>T | ClinGen:CA10618278 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.-185G>T | 80144 | FRAS1 | Uncertain significance | rs559206528 | RCV000350769; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 78978979 | 78978979 | G | T | NC_000004.11:g.78978979G>T | ClinGen:CA10621693 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.-65T>C | 80144 | FRAS1 | Benign | rs6832285 | RCV000388974; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 78979099 | 78979099 | T | C | NC_000004.11:g.78979099T>C | ClinGen:CA10619219 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.-23C>T | 80144 | FRAS1 | Benign | rs34237418 | RCV000287519; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 78979141 | 78979141 | C | T | NC_000004.11:g.78979141C>T | ClinGen:CA2975755 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.-18G>T | 80144 | FRAS1 | Uncertain significance | rs750662462 | RCV000344884; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 78979146 | 78979146 | G | T | NC_000004.11:g.78979146G>T | ClinGen:CA2975757 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.47A>C (p.Glu16Ala) | 80144 | FRAS1 | Uncertain significance | rs554995505 | RCV001156615; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 78979210 | 78979210 | A | C | 4:g.78979210A>C | - | | |
NM_025074.7(FRAS1):c.76+5G>A | 80144 | FRAS1 | Uncertain significance | rs886059625 | RCV000389965; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 78979244 | 78979244 | G | A | NC_000004.11:g.78979244G>A | ClinGen:CA10618288 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.77-9T>C | 80144 | FRAS1 | Uncertain significance | rs1740016134 | RCV001151139; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 78987130 | 78987130 | T | C | 4:g.78987130T>C | - | | |
NM_025074.7(FRAS1):c.95A>G (p.Asp32Gly) | 80144 | FRAS1 | Benign | rs4859905 | RCV000251438|RCV000309845|RCV002058356; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 78987157 | 78987157 | A | G | NC_000004.11:g.78987157A>G | ClinGen:CA2975818 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.108+2546T>C | 80144 | FRAS1 | Benign | rs10008489 | RCV000601466|RCV001702690; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374 | 4 | 78989716 | 78989716 | T | C | NC_000004.11:g.78989716T>C | ClinGen:CA2975833 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.118A>C (p.Ile40Leu) | 80144 | FRAS1 | Uncertain significance | rs751533644 | RCV001151140; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79158673 | 79158673 | A | C | 4:g.79158673A>C | - | | |
NM_025074.7(FRAS1):c.160G>C (p.Asp54His) | 80144 | FRAS1 | Benign | rs17003071 | RCV000339420|RCV001702623|RCV002057952; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN517202 | 4 | 79158715 | 79158715 | G | C | NC_000004.11:g.79158715G>C | ClinGen:CA2975849 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.195C>T (p.Asn65=) | 80144 | FRAS1 | Uncertain significance | rs200429476 | RCV000407938; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79158750 | 79158750 | C | T | NC_000004.11:g.79158750C>T | ClinGen:CA2975857 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.201A>G (p.Gln67=) | 80144 | FRAS1 | Benign/Likely benign | rs117876433 | RCV000304412|RCV000864877; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79158756 | 79158756 | A | G | NC_000004.11:g.79158756A>G | ClinGen:CA2975859 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.227T>G (p.Leu76Arg) | 80144 | FRAS1 | Uncertain significance | rs199745197 | RCV000361503; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79166397 | 79166397 | T | G | NC_000004.11:g.79166397T>G | ClinGen:CA2975879 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.237T>C (p.Ala79=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs370345916 | RCV000178368|RCV000259756; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79166407 | 79166407 | T | C | 4:g.79166407T>C | ClinGen:CA245447 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.285C>A (p.Cys95Ter) | 80144 | FRAS1 | Pathogenic | rs1725182255 | RCV001172405; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79166455 | 79166455 | C | A | 4:g.79166455C>A | - | | |
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val) | 80144 | FRAS1 | Benign | rs78711748 | RCV000298543|RCV001573264|RCV001702624; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN169374 | 4 | 79166478 | 79166478 | A | T | NC_000004.11:g.79166478A>T | ClinGen:CA2975888 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.364del (p.Glu122fs) | 80144 | FRAS1 | Pathogenic | -1 | RCV001536002; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79173597 | 79173597 | TG | T | 79173596 | - | | |
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter) | 80144 | FRAS1 | Pathogenic | rs377046630 | RCV000178998|RCV001172407; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79173606 | 79173606 | C | T | 4:g.79173606C>T | ClinGen:CA203126 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.371G>A (p.Arg124Gln) | 80144 | FRAS1 | Uncertain significance | rs200764508 | RCV001154209; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79173607 | 79173607 | G | A | 4:g.79173607G>A | - | | |
NM_025074.7(FRAS1):c.380C>G (p.Pro127Arg) | 80144 | FRAS1 | Benign | rs147709711 | RCV000355670|RCV001702009|RCV002057953; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN517202 | 4 | 79173616 | 79173616 | C | G | NC_000004.11:g.79173616C>G | ClinGen:CA2975924 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.384A>G (p.Gln128=) | 80144 | FRAS1 | Uncertain significance | rs566690413 | RCV001154210; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79173620 | 79173620 | A | G | 4:g.79173620A>G | - | | |
NM_025074.7(FRAS1):c.395C>T (p.Pro132Leu) | 80144 | FRAS1 | Uncertain significance | rs376122558 | RCV000263222|RCV001753822; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79173631 | 79173631 | C | T | NC_000004.11:g.79173631C>T | ClinGen:CA2975933 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.446G>A (p.Cys149Tyr) | 80144 | FRAS1 | Uncertain significance | rs769003850 | RCV001154211; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79173682 | 79173682 | G | A | 4:g.79173682G>A | - | | |
NM_025074.7(FRAS1):c.470-35T>C | 80144 | FRAS1 | Benign | -1 | RCV001702332; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79176361 | 79176361 | T | C | 79176361 | - | | |
NM_025074.7(FRAS1):c.470-4C>G | 80144 | FRAS1 | Benign | rs59429199 | RCV000330254|RCV000864282; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79176392 | 79176392 | C | G | NC_000004.11:g.79176392C>G | ClinGen:CA2975971 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.516G>A (p.Trp172Ter) | 80144 | FRAS1 | Pathogenic | rs1432850828 | RCV000790410; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79176442 | 79176442 | G | A | 4:g.79176442G>A | - | | |
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln) | 80144 | FRAS1 | Benign | rs147332320 | RCV000387133|RCV001573211|RCV001702625; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN169374 | 4 | 79176444 | 79176444 | G | A | NC_000004.11:g.79176444G>A | ClinGen:CA2975977 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.524G>A (p.Ser175Asn) | 80144 | FRAS1 | Uncertain significance | rs772288910 | RCV000276392|RCV001861240; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79176450 | 79176450 | G | A | NC_000004.11:g.79176450G>A | ClinGen:CA2975979 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.527G>A (p.Arg176Gln) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs183328334 | RCV001155052|RCV001573104; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79176453 | 79176453 | G | A | 4:g.79176453G>A | - | | |
NM_025074.7(FRAS1):c.547A>T (p.Arg183Ter) | 80144 | FRAS1 | Pathogenic | -1 | RCV001376125; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79176473 | 79176473 | A | T | 79176473 | - | | |
NM_025074.7(FRAS1):c.570_573dup (p.Ala192fs) | 80144 | FRAS1 | Pathogenic | rs1725743022 | RCV001172411; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79176495 | 79176496 | T | TCACA | 4:g.79176495_79176496insCACA | - | | |
NM_025074.7(FRAS1):c.585G>T (p.Gln195His) | 80144 | FRAS1 | Uncertain significance | rs930940115 | RCV001155053; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79176511 | 79176511 | G | T | 4:g.79176511G>T | - | | |
NM_025074.7(FRAS1):c.604-132G>A | 80144 | FRAS1 | Benign | rs6856362 | RCV000606403|RCV001703214; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374 | 4 | 79186047 | 79186047 | G | A | 4:g.79186047G>A | ClinGen:CA2976006 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.604-11T>A | 80144 | FRAS1 | Uncertain significance | rs886059626 | RCV000333777; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79186168 | 79186168 | T | A | NC_000004.11:g.79186168T>A | ClinGen:CA10618294 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.604-8G>A | 80144 | FRAS1 | Benign | rs2867014 | RCV000252006|RCV000381460|RCV002058348; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79186171 | 79186171 | G | A | NC_000004.11:g.79186171G>A | ClinGen:CA2976022 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.619C>T (p.Arg207Ter) | 80144 | FRAS1 | Pathogenic | rs748696533 | RCV001172414; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79186194 | 79186194 | C | T | 4:g.79186194C>T | - | | |
NM_025074.7(FRAS1):c.625C>T (p.Pro209Ser) | 80144 | FRAS1 | Benign | rs7699637 | RCV000289381|RCV000864283; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79186200 | 79186200 | C | T | NC_000004.11:g.79186200C>T | ClinGen:CA2976028 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs200053639 | RCV000346722|RCV000598265; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79186216 | 79186216 | C | T | NC_000004.11:g.79186216C>T | ClinGen:CA2976030 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.667G>A (p.Ala223Thr) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs200123398 | RCV000384983|RCV000875699; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79186242 | 79186242 | G | A | NC_000004.11:g.79186242G>A | ClinGen:CA2976033 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.682T>C (p.Tyr228His) | 80144 | FRAS1 | Benign | rs7682296 | RCV000281855|RCV000864284; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79186257 | 79186257 | T | C | NC_000004.11:g.79186257T>C | ClinGen:CA2976037 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.688-13T>C | 80144 | FRAS1 | Benign | rs144657066 | RCV000336829|RCV002057954; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79187975 | 79187975 | T | C | NC_000004.11:g.79187975T>C | ClinGen:CA2976051 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.688-5T>G | 80144 | FRAS1 | Pathogenic | rs775548230 | RCV001172413; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79187983 | 79187983 | T | G | 4:g.79187983T>G | - | | |
NM_025074.7(FRAS1):c.706G>A (p.Glu236Lys) | 80144 | FRAS1 | Uncertain significance | rs373994193 | RCV000400860|RCV001850855; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79188006 | 79188006 | G | A | NC_000004.11:g.79188006G>A | ClinGen:CA2976056 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.727A>G (p.Ile243Val) | 80144 | FRAS1 | Benign | rs6848030 | RCV000297027|RCV000864601; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79188027 | 79188027 | A | G | NC_000004.11:g.79188027A>G | ClinGen:CA2976060 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.763G>A (p.Ala255Thr) | 80144 | FRAS1 | Uncertain significance | rs886059627 | RCV000342487; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79188063 | 79188063 | G | A | NC_000004.11:g.79188063G>A | ClinGen:CA10621701 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) | 80144 | FRAS1 | Benign/Likely benign | rs148509395 | RCV000180373|RCV000514095|RCV001156714|RCV001258255; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472, Orphanet:231178, Orphanet:886 | 4 | 79188076 | 79188076 | T | G | 4:g.79188076T>G | ClinGen:CA203673 | CN517202 not provided; | |
NM_025074.7(FRAS1):c.784G>A (p.Gly262Arg) | 80144 | FRAS1 | Uncertain significance | rs576372683 | RCV001330028; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79188084 | 79188084 | G | A | 79188084 | - | | |
NM_025074.7(FRAS1):c.789+12T>G | 80144 | FRAS1 | Benign | rs142206350 | RCV001151263|RCV002070831; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79188101 | 79188101 | T | G | 4:g.79188101T>G | - | | |
NM_025074.7(FRAS1):c.809G>A (p.Arg270His) | 80144 | FRAS1 | Uncertain significance | rs374688692 | RCV001151264; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79188414 | 79188414 | G | A | 4:g.79188414G>A | - | | |
NM_025074.7(FRAS1):c.826G>A (p.Glu276Lys) | 80144 | FRAS1 | Uncertain significance | rs886059628 | RCV000402290; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79188431 | 79188431 | G | A | NC_000004.11:g.79188431G>A | ClinGen:CA10619240 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.856T>A (p.Ser286Thr) | 80144 | FRAS1 | Uncertain significance | rs189205642 | RCV001151265|RCV002032395; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79188461 | 79188461 | T | A | 4:g.79188461T>A | - | | |
NM_025074.7(FRAS1):c.885C>T (p.Asp295=) | 80144 | FRAS1 | Uncertain significance | rs562224966 | RCV001151266; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79188490 | 79188490 | C | T | 4:g.79188490C>T | - | | |
NM_025074.7(FRAS1):c.886G>A (p.Glu296Lys) | 80144 | FRAS1 | Uncertain significance | rs186811333 | RCV000302837|RCV001850856; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79188491 | 79188491 | G | A | NC_000004.11:g.79188491G>A | ClinGen:CA2976109 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.903G>A (p.Ser301=) | 80144 | FRAS1 | Uncertain significance | rs373613705 | RCV001151267; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79188508 | 79188508 | G | A | 4:g.79188508G>A | - | | |
NM_025074.7(FRAS1):c.969G>A (p.Val323=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs377333036 | RCV000311638|RCV000357606; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79188574 | 79188574 | G | A | 4:g.79188574G>A | ClinGen:CA2976122 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.979C>T (p.Arg327Trp) | 80144 | FRAS1 | Benign | rs61999335 | RCV000272027|RCV001701864|RCV001572888; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN517202 | 4 | 79188584 | 79188584 | C | T | NC_000004.11:g.79188584C>T | ClinGen:CA2976124 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.981+9C>T | 80144 | FRAS1 | Benign | rs112081709 | RCV000308483|RCV002057955; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79188595 | 79188595 | C | T | NC_000004.11:g.79188595C>T | ClinGen:CA2976127 | C0265233 219000 Cryptophthalmos syndrome; | |
NC_000004.12:g.78268671_78298757del | 80144 | FRAS1 | Pathogenic | -1 | RCV001172409; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79189825 | 79219911 | na | na | -1 | - | | |
NM_025074.7(FRAS1):c.1072-5C>T | 80144 | FRAS1 | Benign | rs570183677 | RCV001154325|RCV002070885; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79202547 | 79202547 | C | T | 4:g.79202547C>T | - | | |
NM_025074.7(FRAS1):c.1087A>G (p.Ser363Gly) | 80144 | FRAS1 | Uncertain significance | rs1404338156 | RCV001154326; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79202567 | 79202567 | A | G | 4:g.79202567A>G | - | | |
NM_025074.7(FRAS1):c.1121G>A (p.Trp374Ter) | 80144 | FRAS1 | Pathogenic | rs1727394990 | RCV001172419; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79203987 | 79203987 | G | A | 4:g.79203987G>A | - | | |
NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter) | 80144 | FRAS1 | Pathogenic | rs775259788 | RCV001172416; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79204019 | 79204019 | C | T | 4:g.79204019C>T | - | | |
NM_025074.7(FRAS1):c.1186T>C (p.Cys396Arg) | 80144 | FRAS1 | Uncertain significance | rs138103912 | RCV001154327; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79204052 | 79204052 | T | C | 4:g.79204052T>C | - | | |
NM_025074.7(FRAS1):c.1226dup (p.Gln411fs) | 80144 | FRAS1 | Likely pathogenic | rs1727403682 | RCV001283840; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79204090 | 79204091 | G | GA | 79204090 | - | | |
NM_025074.7(FRAS1):c.1250C>T (p.Thr417Ile) | 80144 | FRAS1 | Uncertain significance | rs1727405834 | RCV001154328; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79204116 | 79204116 | C | T | 4:g.79204116C>T | - | | |
NM_025074.7(FRAS1):c.1255+10T>C | 80144 | FRAS1 | Benign/Likely benign | rs540508144 | RCV000899770|RCV001154329; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79204131 | 79204131 | T | C | 4:g.79204131T>C | - | | |
NM_025074.7(FRAS1):c.1256-12C>T | 80144 | FRAS1 | Uncertain significance | rs370606261 | RCV000363207; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79205547 | 79205547 | C | T | NC_000004.11:g.79205547C>T | ClinGen:CA2976241 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1270G>C (p.Asp424His) | 80144 | FRAS1 | Uncertain significance | rs775737013 | RCV001155161; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79205573 | 79205573 | G | C | 4:g.79205573G>C | - | | |
NM_025074.7(FRAS1):c.1286C>A (p.Ser429Tyr) | 80144 | FRAS1 | Benign | rs6838959 | RCV000277768|RCV000864602; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79205589 | 79205589 | C | A | 4:g.79205589C>A | ClinGen:CA2976248 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1371T>C (p.Gly457=) | 80144 | FRAS1 | Uncertain significance | rs746772122 | RCV001155162; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79205674 | 79205674 | T | C | 4:g.79205674T>C | - | | |
NM_025074.7(FRAS1):c.1396T>A (p.Leu466Ile) | 80144 | FRAS1 | Benign | rs12504081 | RCV000243148|RCV000333069|RCV001660349; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79205699 | 79205699 | T | A | NC_000004.11:g.79205699T>A | ClinGen:CA2976263 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1399+1G>A | 80144 | FRAS1 | Pathogenic | rs1727490024 | RCV001172421; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79205703 | 79205703 | G | A | 4:g.79205703G>A | - | | |
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=) | 80144 | FRAS1 | Benign | rs35690113 | RCV000369014|RCV000865158; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79207575 | 79207575 | C | T | 4:g.79207575C>T | ClinGen:CA2976303 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1486G>T (p.Val496Leu) | 80144 | FRAS1 | Uncertain significance | rs201490843 | RCV000274361; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79207645 | 79207645 | G | T | 4:g.79207645G>T | ClinGen:CA2976313 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1528T>C (p.Cys510Arg) | 80144 | FRAS1 | Uncertain significance | rs141063284 | RCV001155163; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79207687 | 79207687 | T | C | 4:g.79207687T>C | - | | |
NM_025074.7(FRAS1):c.1598A>T (p.Asp533Val) | 80144 | FRAS1 | Uncertain significance | rs886059629 | RCV000320115; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79229283 | 79229283 | A | T | 4:g.79229283A>T | ClinGen:CA10621704 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1609G>A (p.Val537Met) | 80144 | FRAS1 | Uncertain significance | rs367598897 | RCV000374408|RCV001861241; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79229294 | 79229294 | G | A | 4:g.79229294G>A | ClinGen:CA2976362 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1617A>G (p.Arg539=) | 80144 | FRAS1 | Benign | rs345528 | RCV000279819|RCV002061247; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79229302 | 79229302 | A | G | 4:g.79229302A>G | ClinGen:CA2976366 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=) | 80144 | FRAS1 | Benign/Likely benign | rs528765554 | RCV000316325|RCV000591566|RCV000873307; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN517202 | 4 | 79229320 | 79229320 | C | T | 4:g.79229320C>T | ClinGen:CA2976378 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1650C>A (p.Gly550=) | 80144 | FRAS1 | Uncertain significance | rs1728870513 | RCV001156814; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79229335 | 79229335 | C | A | 4:g.79229335C>A | - | | |
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) | 80144 | FRAS1 | Benign | rs17003124 | RCV000380193|RCV000873267|RCV001821069; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN169374 | 4 | 79236779 | 79236779 | C | T | 4:g.79236779C>T | ClinGen:CA2976413 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1722G>T (p.Arg574Ser) | 80144 | FRAS1 | Uncertain significance | rs886059630 | RCV000285883; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79236791 | 79236791 | G | T | 4:g.79236791G>T | ClinGen:CA10621724 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1766G>A (p.Cys589Tyr) | 80144 | FRAS1 | Uncertain significance | rs1729214191 | RCV001172422; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79236835 | 79236835 | G | A | 4:g.79236835G>A | - | | |
NM_025074.7(FRAS1):c.1769T>C (p.Met590Thr) | 80144 | FRAS1 | Benign/Likely benign | rs35030041 | RCV000224361|RCV000340861; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79236838 | 79236838 | T | C | 4:g.79236838T>C | ClinGen:CA2976422 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs149843493 | RCV000398678|RCV001355917; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79236852 | 79236852 | G | A | 4:g.79236852G>A | ClinGen:CA2976424 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1796C>T (p.Ala599Val) | 80144 | FRAS1 | Uncertain significance | rs368186922 | RCV001151395; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79236865 | 79236865 | C | T | 4:g.79236865C>T | - | | |
NM_025074.7(FRAS1):c.1810A>G (p.Arg604Gly) | 80144 | FRAS1 | Uncertain significance | rs1729217009 | RCV001330025; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79236879 | 79236879 | A | G | 79236879 | - | | |
NM_025074.7(FRAS1):c.1820-11C>T | 80144 | FRAS1 | Uncertain significance | rs117925872 | RCV000346162; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79238511 | 79238511 | C | T | 4:g.79238511C>T | ClinGen:CA2976457 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1820-11C>G | 80144 | FRAS1 | Benign/Likely benign | rs117925872 | RCV000291844|RCV002057956; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79238511 | 79238511 | C | G | 4:g.79238511C>G | ClinGen:CA2976456 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1848T>C (p.Ser616=) | 80144 | FRAS1 | Uncertain significance | rs878902352 | RCV000399519; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79238550 | 79238550 | T | C | 4:g.79238550T>C | ClinGen:CA10619244 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1885C>G (p.Pro629Ala) | 80144 | FRAS1 | Uncertain significance | rs765144262 | RCV000306376; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79238587 | 79238587 | C | G | 4:g.79238587C>G | ClinGen:CA2976471 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1905C>T (p.Gly635=) | 80144 | FRAS1 | Uncertain significance | rs1406270521 | RCV001151396; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79238607 | 79238607 | C | T | 4:g.79238607C>T | - | | |
NM_025074.7(FRAS1):c.1914G>A (p.Leu638=) | 80144 | FRAS1 | Uncertain significance | rs778155926 | RCV000370427; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79238616 | 79238616 | G | A | 4:g.79238616G>A | ClinGen:CA2976483 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs147869493 | RCV001151397|RCV001171737; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79238620 | 79238620 | C | T | 4:g.79238620C>T | - | | |
NM_025074.7(FRAS1):c.1947T>C (p.His649=) | 80144 | FRAS1 | Benign | rs345514 | RCV000175235|RCV000407507|RCV001610486; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79238649 | 79238649 | T | C | 4:g.79238649T>C | ClinGen:CA201354 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2010T>A (p.Cys670Ter) | 80144 | FRAS1 | Pathogenic | rs1338479649 | RCV001172424; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79240013 | 79240013 | T | A | 4:g.79240013T>A | - | | |
NM_025074.7(FRAS1):c.2027C>T (p.Pro676Leu) | 80144 | FRAS1 | Uncertain significance | rs202043019 | RCV000494487|RCV001154421; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79240030 | 79240030 | C | T | 4:g.79240030C>T | ClinGen:CA2976533 | CN169374 not specified; | |
NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly) | 80144 | FRAS1 | Benign | rs345513 | RCV000252679|RCV000312084|RCV001683115; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79240063 | 79240063 | A | G | NC_000004.11:g.79240063A>G | ClinGen:CA2976538 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2128A>C (p.Ile710Leu) | 80144 | FRAS1 | Benign | rs345512 | RCV000366872|RCV002057957; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79240131 | 79240131 | A | C | NC_000004.11:g.79240131A>C | ClinGen:CA2976553 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2132G>A (p.Cys711Tyr) | 80144 | FRAS1 | Uncertain significance | rs201740573 | RCV000262864; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79240135 | 79240135 | G | A | NC_000004.11:g.79240135G>A | ClinGen:CA2976555 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2137G>C (p.Ala713Pro) | 80144 | FRAS1 | Uncertain significance | rs369605412 | RCV000318364; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79240140 | 79240140 | G | C | NC_000004.11:g.79240140G>C | ClinGen:CA2976556 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2313G>T (p.Pro771=) | 80144 | FRAS1 | Benign | rs396790 | RCV000354533|RCV002057958; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79258862 | 79258862 | G | T | NC_000004.11:g.79258862G>T | ClinGen:CA2976611 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2328C>T (p.Cys776=) | 80144 | FRAS1 | Uncertain significance | rs776037240 | RCV000259530; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79258877 | 79258877 | C | T | NC_000004.11:g.79258877C>T | ClinGen:CA2976614 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2345A>T (p.His782Leu) | 80144 | FRAS1 | Uncertain significance | rs200056545 | RCV001155257; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79258894 | 79258894 | A | T | 4:g.79258894A>T | - | | |
NM_025074.7(FRAS1):c.2357_2360del (p.Thr786fs) | 80144 | FRAS1 | Pathogenic | -1 | RCV001783309; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79258905 | 79258908 | TACCA | T | 79258904 | - | | |
NM_025074.7(FRAS1):c.2375C>A (p.Thr792Asn) | 80144 | FRAS1 | Uncertain significance | rs1037965937 | RCV001155258; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79258924 | 79258924 | C | A | 4:g.79258924C>A | - | | |
NM_025074.7(FRAS1):c.2433C>T (p.His811=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs756276943 | RCV000324069|RCV002061248; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79284677 | 79284677 | C | T | NC_000004.11:g.79284677C>T | ClinGen:CA2976654 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) | 80144 | FRAS1 | Benign/Likely benign | rs6835769 | RCV000242783|RCV000378902|RCV002058347; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79284694 | 79284694 | C | T | NC_000004.11:g.79284694C>T | ClinGen:CA2976656 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2570G>T (p.Cys857Phe) | 80144 | FRAS1 | Pathogenic | -1 | RCV001376124; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79284814 | 79284814 | G | T | 79284814 | - | | |
NM_025074.7(FRAS1):c.2575+15G>A | 80144 | FRAS1 | Benign | rs79624813 | RCV000284463|RCV002057959; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79284834 | 79284834 | G | A | NC_000004.11:g.79284834G>A | ClinGen:CA2976674 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2598C>T (p.Thr866=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs149802708 | RCV000320715|RCV000877523; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79285084 | 79285084 | C | T | NC_000004.11:g.79285084C>T | ClinGen:CA2976692 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2647G>A (p.Val883Met) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs377068014 | RCV000871923|RCV001155259; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79285133 | 79285133 | G | A | 4:g.79285133G>A | - | | |
NM_025074.7(FRAS1):c.2660C>G (p.Thr887Ser) | 80144 | FRAS1 | Benign | rs74510691 | RCV000384636|RCV000870651; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79285146 | 79285146 | C | G | NC_000004.11:g.79285146C>G | ClinGen:CA2976709 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2692del (p.His898fs) | 80144 | FRAS1 | Pathogenic | -1 | RCV001783311; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79285178 | 79285178 | GC | G | 79285177 | - | | |
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) | 80144 | FRAS1 | Pathogenic/Likely pathogenic | rs755750961 | RCV000500822|RCV000760330; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79285205 | 79285205 | C | T | NC_000004.11:g.79285205C>T | ClinGen:CA2976718 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2722+1G>A | 80144 | FRAS1 | Pathogenic | rs794727365 | RCV000224135|RCV001172426; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79285209 | 79285209 | G | A | 4:g.79285209G>A | ClinGen:CA201906 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2811T>A (p.Cys937Ter) | 80144 | FRAS1 | Likely pathogenic | -1 | RCV001781130; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79291080 | 79291080 | T | A | 79291080 | - | | |
NM_025074.7(FRAS1):c.2818G>C (p.Glu940Gln) | 80144 | FRAS1 | Uncertain significance | rs573458782 | RCV000289239; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79291087 | 79291087 | G | C | NC_000004.11:g.79291087G>C | ClinGen:CA2976743 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.2835G>A (p.Gln945=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs137923783 | RCV000902046|RCV001156924; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79291104 | 79291104 | G | A | 4:g.79291104G>A | - | | |
NM_025074.7(FRAS1):c.2846A>T (p.Asp949Val) | 80144 | FRAS1 | Uncertain significance | rs202221840 | RCV001156925|RCV001859021; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79291115 | 79291115 | A | T | 4:g.79291115A>T | - | | |
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs17003166 | RCV000732334|RCV000871682|RCV001156926; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79291130 | 79291130 | C | T | NC_000004.11:g.79291130C>T | - | | |
NM_025074.7(FRAS1):c.2869+1G>A | 80144 | FRAS1 | Likely pathogenic | rs1731436153 | RCV001330026; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79291139 | 79291139 | G | A | 79291139 | - | | |
NM_025074.7(FRAS1):c.2870-5T>C | 80144 | FRAS1 | Uncertain significance | rs768834170 | RCV001156927; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79293867 | 79293867 | T | C | 4:g.79293867T>C | - | | |
NM_025074.7(FRAS1):c.2894G>T (p.Cys965Phe) | 80144 | FRAS1 | Likely pathogenic | rs1325190118 | RCV000782359; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79293896 | 79293896 | G | T | 4:g.79293896G>T | - | | |
NM_025074.7(FRAS1):c.2934T>G (p.Asp978Glu) | 80144 | FRAS1 | Uncertain significance | rs1466526912 | RCV001156928; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79293936 | 79293936 | T | G | 4:g.79293936T>G | - | | |
NM_025074.7(FRAS1):c.2935G>T (p.Gly979Cys) | 80144 | FRAS1 | Uncertain significance | rs538621809 | RCV001156929; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79293937 | 79293937 | G | T | 4:g.79293937G>T | - | | |
NM_025074.7(FRAS1):c.2939A>G (p.Tyr980Cys) | 80144 | FRAS1 | Uncertain significance | rs570962669 | RCV001156930; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79293941 | 79293941 | A | G | 4:g.79293941A>G | - | | |
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs111554790 | RCV000514473|RCV001151503; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79293958 | 79293958 | G | A | 4:g.79293958G>A | ClinGen:CA2976778 | CN517202 not provided; | |
NM_025074.7(FRAS1):c.3010+9G>A | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs148841455 | RCV000344196|RCV000396312; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79294021 | 79294021 | G | A | 4:g.79294021G>A | ClinGen:CA2976790 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.3048T>C (p.His1016=) | 80144 | FRAS1 | Uncertain significance | rs886059631 | RCV000394947; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79295302 | 79295302 | T | C | NC_000004.11:g.79295302T>C | ClinGen:CA10618312 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.3058C>T (p.Arg1020Cys) | 80144 | FRAS1 | Uncertain significance | rs200292361 | RCV000295202|RCV000397108; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79295312 | 79295312 | C | T | 4:g.79295312C>T | ClinGen:CA2976813 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.3065A>C (p.Lys1022Thr) | 80144 | FRAS1 | Likely benign | rs201252328 | RCV000876608|RCV001151504; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79295319 | 79295319 | A | C | 4:g.79295319A>C | - | | |
NM_025074.7(FRAS1):c.3068G>A (p.Gly1023Glu) | 80144 | FRAS1 | Benign | rs17459809 | RCV000350153|RCV002057960|RCV001702010; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN169374 | 4 | 79295322 | 79295322 | G | A | NC_000004.11:g.79295322G>A | ClinGen:CA2976818 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.3124G>A (p.Ala1042Thr) | 80144 | FRAS1 | Benign | rs114077522 | RCV000398347|RCV001702626|RCV002057961; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN517202 | 4 | 79295378 | 79295378 | G | A | NC_000004.11:g.79295378G>A | ClinGen:CA2976831 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.3128A>G (p.Asp1043Gly) | 80144 | FRAS1 | Uncertain significance | rs886059632 | RCV000300692; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79295382 | 79295382 | A | G | NC_000004.11:g.79295382A>G | ClinGen:CA10618313 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.3151+14_3151+15dup | 80144 | FRAS1 | Benign | rs398092530 | RCV000246753|RCV000355496|RCV001529401; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79295418 | 79295419 | C | CTG | NC_000004.11:g.79295419_79295420dup | ClinGen:CA2976837 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.3152-10T>C | 80144 | FRAS1 | Uncertain significance | rs776449329 | RCV000398648; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79296883 | 79296883 | T | C | NC_000004.11:g.79296883T>C | ClinGen:CA2976856 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.3157C>A (p.Pro1053Thr) | 80144 | FRAS1 | Uncertain significance | rs139162588 | RCV001154519; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79296898 | 79296898 | C | A | 4:g.79296898C>A | - | | |
NM_025074.7(FRAS1):c.3286T>C (p.Cys1096Arg) | 80144 | FRAS1 | Uncertain significance | rs765732994 | RCV000297107; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79297027 | 79297027 | T | C | NC_000004.11:g.79297027T>C | ClinGen:CA2976886 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.3293-2A>T | 80144 | FRAS1 | Pathogenic | -1 | RCV001806447; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79300878 | 79300878 | A | T | 79300878 | - | | |
NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=) | 80144 | FRAS1 | Benign | rs35774552 | RCV000176765|RCV000361100|RCV002056954; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79300899 | 79300899 | T | C | 4:g.79300899T>C | ClinGen:CA202103 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys) | 80144 | FRAS1 | Benign | rs12512164 | RCV000176766|RCV000266510|RCV002054081; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79300993 | 79300993 | G | A | 4:g.79300993G>A | ClinGen:CA202105 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.3529A>C (p.Lys1177Gln) | 80144 | FRAS1 | Uncertain significance | rs769982793 | RCV001154520; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79301116 | 79301116 | A | C | 4:g.79301116A>C | - | | |
NM_025074.7(FRAS1):c.3567A>G (p.Lys1189=) | 80144 | FRAS1 | Uncertain significance | rs778818485 | RCV001154521; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79305216 | 79305216 | A | G | 4:g.79305216A>G | - | | |
NM_025074.7(FRAS1):c.3631C>T (p.Gln1211Ter) | 80144 | FRAS1 | Likely pathogenic | -1 | RCV001807682; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79305280 | 79305280 | C | T | 79305280 | - | | |
NM_025074.7(FRAS1):c.3648+12G>A | 80144 | FRAS1 | Uncertain significance | rs764016097 | RCV001154522; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79305309 | 79305309 | G | A | 4:g.79305309G>A | - | | |
NM_025074.7(FRAS1):c.3649-9A>C | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs763538373 | RCV000897188|RCV001155343; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79308520 | 79308520 | A | C | 4:g.79308520A>C | - | | |
NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter) | 80144 | FRAS1 | Pathogenic | rs186964660 | RCV001172412; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79308610 | 79308610 | C | T | 4:g.79308610C>T | - | | |
NM_025074.7(FRAS1):c.3799C>T (p.Gln1267Ter) | 80144 | FRAS1 | Pathogenic | rs120074158 | RCV000002946; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79308679 | 79308679 | C | T | 4:g.79308679C>T | ClinGen:CA115773,OMIM:607830.0004 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.3824C>G (p.Pro1275Arg) | 80144 | FRAS1 | Uncertain significance | rs1732266097 | RCV001155344; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79308704 | 79308704 | C | G | 4:g.79308704C>G | - | | |
NM_025074.7(FRAS1):c.3873T>C (p.Tyr1291=) | 80144 | FRAS1 | Uncertain significance | rs1732268531 | RCV001155345; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79308753 | 79308753 | T | C | 4:g.79308753T>C | - | | |
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=) | 80144 | FRAS1 | Benign | rs76107832 | RCV000302768|RCV000870806; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79308831 | 79308831 | G | A | NC_000004.11:g.79308831G>A | ClinGen:CA2977049 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.3986G>A (p.Gly1329Asp) | 80144 | FRAS1 | Uncertain significance | rs375515578 | RCV001155346; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79321898 | 79321898 | G | A | 4:g.79321898G>A | - | | |
NM_025074.7(FRAS1):c.4009A>G (p.Met1337Val) | 80144 | FRAS1 | Uncertain significance | rs765572525 | RCV000357532; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79321921 | 79321921 | A | G | NC_000004.11:g.79321921A>G | ClinGen:CA2977076 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4019T>C (p.Val1340Ala) | 80144 | FRAS1 | Uncertain significance | rs1578299894 | RCV001155347; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79321931 | 79321931 | T | C | 4:g.79321931T>C | - | | |
NM_025074.7(FRAS1):c.4032dup (p.Met1345fs) | 80144 | FRAS1 | Pathogenic | rs1732856311 | RCV001172429; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79321938 | 79321939 | A | AG | 4:g.79321938_79321939insG | - | | |
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs79869130 | RCV000502497|RCV000871789|RCV001155348; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79322007 | 79322007 | C | T | NC_000004.11:g.79322007C>T | ClinGen:CA2977089 | CN169374 not specified; | |
NM_025074.7(FRAS1):c.4111C>T (p.Gln1371Ter) | 80144 | FRAS1 | Pathogenic | rs1732862637 | RCV001172408; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79322023 | 79322023 | C | T | 4:g.79322023C>T | - | | |
NM_025074.7(FRAS1):c.4143T>C (p.Leu1381=) | 80144 | FRAS1 | Benign | rs113301188 | RCV000870937|RCV001157030; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79328830 | 79328830 | T | C | 4:g.79328830T>C | - | | |
NM_025074.7(FRAS1):c.4159G>T (p.Ala1387Ser) | 80144 | FRAS1 | Uncertain significance | rs200689785 | RCV001157031; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79328846 | 79328846 | G | T | 4:g.79328846G>T | - | | |
NM_025074.7(FRAS1):c.4160C>T (p.Ala1387Val) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs201864889 | RCV000272259|RCV000958083; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79328847 | 79328847 | C | T | NC_000004.11:g.79328847C>T | ClinGen:CA2977121 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala) | 80144 | FRAS1 | Uncertain significance | rs376487875 | RCV000327375|RCV001770277; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79328868 | 79328868 | G | C | NC_000004.11:g.79328868G>C | ClinGen:CA2977123 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter) | 80144 | FRAS1 | Pathogenic | rs1733155852 | RCV001172430; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79328870 | 79328870 | C | T | 4:g.79328870C>T | - | | |
NM_025074.7(FRAS1):c.4255G>A (p.Val1419Ile) | 80144 | FRAS1 | Uncertain significance | rs570825961 | RCV001157032; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79328942 | 79328942 | G | A | 4:g.79328942G>A | - | | |
NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter) | 80144 | FRAS1 | Pathogenic | -1 | RCV001645007; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79328946 | 79328946 | G | A | 79328946 | - | | |
NM_025074.7(FRAS1):c.4271C>G (p.Ser1424Ter) | 80144 | FRAS1 | Pathogenic | rs120074159 | RCV000002947; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79328958 | 79328958 | C | G | 4:g.79328958C>G | ClinGen:CA115775,OMIM:607830.0005 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4346G>T (p.Ser1449Ile) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs201131604 | RCV000877954|RCV001157033; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79334160 | 79334160 | G | T | 4:g.79334160G>T | - | | |
NM_025074.7(FRAS1):c.4364C>T (p.Ala1455Val) | 80144 | FRAS1 | Uncertain significance | rs201693179 | RCV000382855|RCV000735054; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79334178 | 79334178 | C | T | NC_000004.11:g.79334178C>T | ClinGen:CA2977173 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4367T>C (p.Ile1456Thr) | 80144 | FRAS1 | Uncertain significance | rs560902495 | RCV001157034; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79334181 | 79334181 | T | C | 4:g.79334181T>C | - | | |
NM_025074.7(FRAS1):c.4465del (p.Leu1489fs) | 80144 | FRAS1 | Pathogenic | rs1257736144 | RCV001293651; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79340140 | 79340140 | TC | T | 79340139 | - | | |
NM_025074.7(FRAS1):c.4555C>T (p.Arg1519Trp) | 80144 | FRAS1 | Uncertain significance | rs761970312 | RCV000269617; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79343031 | 79343031 | C | T | NC_000004.11:g.79343031C>T | ClinGen:CA2977245 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4557G>A (p.Arg1519=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs773736914 | RCV000333996|RCV000930389; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79343033 | 79343033 | G | A | NC_000004.11:g.79343033G>A | ClinGen:CA2977247 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4578C>G (p.Ile1526Met) | 80144 | FRAS1 | Uncertain significance | rs757959583 | RCV001254010; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79343054 | 79343054 | C | G | 4:g.79343054C>G | - | | |
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs1872267 | RCV000388525|RCV000658999|RCV001818432; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN169374 | 4 | 79343055 | 79343055 | C | T | 4:g.79343055C>T | ClinGen:CA244749 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4580G>A (p.Arg1527Gln) | 80144 | FRAS1 | Uncertain significance | rs566595838 | RCV001254011|RCV001879878; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79343056 | 79343056 | G | A | 4:g.79343056G>A | - | | |
NM_025074.7(FRAS1):c.4634C>T (p.Pro1545Leu) | 80144 | FRAS1 | Uncertain significance | rs201675499 | RCV000294415|RCV001786378; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79343110 | 79343110 | C | T | NC_000004.11:g.79343110C>T | ClinGen:CA2977263 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4635G>A (p.Pro1545=) | 80144 | FRAS1 | Benign | rs78575519 | RCV000243307|RCV000349386|RCV001711733; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79343111 | 79343111 | G | A | NC_000004.11:g.79343111G>A | ClinGen:CA2977264 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs148663672 | RCV000375909|RCV000488060|RCV001824752; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN169374 | 4 | 79343124 | 79343124 | C | T | NC_000004.11:g.79343124C>T | ClinGen:CA2977267 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4678+5T>C | 80144 | FRAS1 | Uncertain significance | rs76993002 | RCV000281504; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79343159 | 79343159 | T | C | NC_000004.11:g.79343159T>C | ClinGen:CA2977271 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4679-9C>T | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs541669781 | RCV001154630|RCV001253867; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79345533 | 79345533 | C | T | 4:g.79345533C>T | - | | |
NM_025074.7(FRAS1):c.4682T>C (p.Leu1561Pro) | 80144 | FRAS1 | Uncertain significance | rs376814395 | RCV000336087; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79345545 | 79345545 | T | C | NC_000004.11:g.79345545T>C | ClinGen:CA2977292 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4737G>A (p.Pro1579=) | 80144 | FRAS1 | Uncertain significance | rs373137263 | RCV000401213; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79350274 | 79350274 | G | A | NC_000004.11:g.79350274G>A | ClinGen:CA2977319 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4808G>A (p.Arg1603Gln) | 80144 | FRAS1 | Uncertain significance | rs772059263 | RCV001154631; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79350345 | 79350345 | G | A | 4:g.79350345G>A | - | | |
NM_025074.7(FRAS1):c.4815G>A (p.Ala1605=) | 80144 | FRAS1 | Benign/Likely benign | rs201188262 | RCV000305718|RCV000871712; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79350352 | 79350352 | G | A | NC_000004.11:g.79350352G>A | ClinGen:CA2977335 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4843+2T>C | 80144 | FRAS1 | Uncertain significance | rs370018000 | RCV001328202|RCV001780227|RCV001732106; | N | MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805, Orphanet:93545|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79350382 | 79350382 | T | C | 79350382 | - | | |
NM_025074.7(FRAS1):c.4874C>T (p.Thr1625Ile) | 80144 | FRAS1 | Uncertain significance | rs770386832 | RCV001154632; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79351476 | 79351476 | C | T | 4:g.79351476C>T | - | | |
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) | 80144 | FRAS1 | Benign | rs34271211 | RCV000341961|RCV000864826|RCV001729557; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN169374 | 4 | 79351542 | 79351542 | C | T | NC_000004.11:g.79351542C>T | ClinGen:CA2977368 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.4959G>A (p.Pro1653=) | 80144 | FRAS1 | Benign/Likely benign | rs372154997 | RCV000402329|RCV000879378; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79351561 | 79351561 | G | A | 4:g.79351561G>A | ClinGen:CA2977371 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.5034T>C (p.Ser1678=) | 80144 | FRAS1 | Uncertain significance | rs1329723132 | RCV001155470; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79353575 | 79353575 | T | C | 4:g.79353575T>C | - | | |
NM_025074.7(FRAS1):c.5039G>A (p.Arg1680Gln) | 80144 | FRAS1 | Uncertain significance | rs201110914 | RCV000302495; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79353580 | 79353580 | G | A | 4:g.79353580G>A | ClinGen:CA2977410 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs35219594 | RCV000177952|RCV000366484|RCV000870983; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79353587 | 79353587 | C | G | 4:g.79353587C>G | ClinGen:CA202671 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.5056A>C (p.Ile1686Leu) | 80144 | FRAS1 | Uncertain significance | rs748832101 | RCV001155471; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79353597 | 79353597 | A | C | 4:g.79353597A>C | - | | |
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) | 80144 | FRAS1 | Pathogenic/Likely pathogenic | rs775517752 | RCV000593264|RCV001330027; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79353666 | 79353666 | C | T | 4:g.79353666C>T | ClinGen:CA2977423 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.5134C>T (p.Arg1712Ter) | 80144 | FRAS1 | Pathogenic | rs535527511 | RCV001172415; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79353675 | 79353675 | C | T | 4:g.79353675C>T | - | | |
NM_025074.7(FRAS1):c.5166del (p.Val1723fs) | 80144 | FRAS1 | Pathogenic | -1 | RCV001837046; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79353707 | 79353707 | CT | C | 79353706 | - | | |
NM_025074.7(FRAS1):c.5169_5175del (p.Ala1724fs) | 80144 | FRAS1 | Pathogenic | rs1734259370 | RCV001172423; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79353708 | 79353714 | TGTTGCCA | T | 4:g.79353708_79353714del | - | | |
NM_025074.7(FRAS1):c.5208T>C (p.Leu1736=) | 80144 | FRAS1 | Benign | rs35608396 | RCV000271918|RCV000870846; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79353749 | 79353749 | T | C | 4:g.79353749T>C | ClinGen:CA2977444 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.5218-9C>T | 80144 | FRAS1 | Uncertain significance | rs369761349 | RCV000306455; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79359715 | 79359715 | C | T | 4:g.79359715C>T | ClinGen:CA2977466 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.5366+13T>G | 80144 | FRAS1 | Benign | rs2170899 | RCV000178008|RCV000370507|RCV002054104; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79359885 | 79359885 | T | G | 4:g.79359885T>G | ClinGen:CA202688 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter) | 80144 | FRAS1 | Likely pathogenic | rs757311669 | RCV000761280; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79360059 | 79360059 | C | G | NC_000004.11:g.79360059C>G | - | | |
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs150916370 | RCV000872516|RCV001157148; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79360063 | 79360063 | G | A | 4:g.79360063G>A | - | | |
NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del) | 80144 | FRAS1 | Uncertain significance | rs730882178 | RCV000002948; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79360107 | 79360112 | ATTTCTC | A | 4:g.79360107_79360112del | ClinGen:CA212802,OMIM:607830.0006 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.5474T>G (p.Met1825Arg) | 80144 | FRAS1 | Uncertain significance | rs200477457 | RCV001157149|RCV001572842; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79360163 | 79360163 | T | G | 4:g.79360163T>G | - | | |
NM_025074.7(FRAS1):c.5516C>T (p.Ala1839Val) | 80144 | FRAS1 | Uncertain significance | rs769089211 | RCV000275946; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79360205 | 79360205 | C | T | 4:g.79360205C>T | ClinGen:CA2977525 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.5574dup (p.Ala1859fs) | 80144 | FRAS1 | Pathogenic | rs753831692 | RCV001172427; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79362353 | 79362354 | A | AT | 4:g.79362353_79362354insT | - | | |
NM_025074.7(FRAS1):c.5664_5665+19delinsT | 80144 | FRAS1 | Pathogenic | rs886037766 | RCV000257997; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79362450 | 79362470 | AGGTACTACTTCCTGTAAAAC | T | NC_000004.11:g.79362450_79362470delinsT | ClinGen:CA10575841 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.5670T>C (p.Asp1890=) | 80144 | FRAS1 | Uncertain significance | rs1718788319 | RCV001157150; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79366680 | 79366680 | T | C | 4:g.79366680T>C | - | | |
NM_025074.7(FRAS1):c.5716del (p.Ile1906fs) | 80144 | FRAS1 | Pathogenic | rs1718790934 | RCV001172432; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79366726 | 79366726 | TA | T | 4:g.79366726_79366726del | - | | |
NM_025074.7(FRAS1):c.5756G>A (p.Ser1919Asn) | 80144 | FRAS1 | Uncertain significance | rs763355889 | RCV000330987; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79366766 | 79366766 | G | A | 4:g.79366766G>A | ClinGen:CA2977599 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.5788A>G (p.Ile1930Val) | 80144 | FRAS1 | Uncertain significance | rs373432682 | RCV000385357; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79366798 | 79366798 | A | G | 4:g.79366798A>G | ClinGen:CA2977605 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.5857-5A>G | 80144 | FRAS1 | Likely pathogenic | -1 | RCV001807684; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79367876 | 79367876 | A | G | 79367876 | - | | |
NM_025074.7(FRAS1):c.5862G>T (p.Lys1954Asn) | 80144 | FRAS1 | Uncertain significance | rs200547348 | RCV001157151; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79367886 | 79367886 | G | T | 4:g.79367886G>T | - | | |
NM_025074.7(FRAS1):c.5865C>T (p.Asn1955=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs201750748 | RCV000262786|RCV000873523; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79367889 | 79367889 | C | T | 4:g.79367889C>T | ClinGen:CA2977649 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.5952dup (p.Asp1985fs) | 80144 | FRAS1 | Pathogenic | rs1718847595 | RCV001172434; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79367974 | 79367975 | C | CA | 4:g.79367974_79367975insA | - | | |
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser) | 80144 | FRAS1 | Pathogenic | rs771251344 | RCV001172433; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79368034 | 79368034 | G | A | 4:g.79368034G>A | - | | |
NM_025074.7(FRAS1):c.6010+8A>G | 80144 | FRAS1 | Benign | rs7670555 | RCV000318010|RCV002057962; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79368042 | 79368042 | A | G | NC_000004.11:g.79368042A>G | ClinGen:CA2977677 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6010+10G>A | 80144 | FRAS1 | Benign | rs78537685 | RCV000372672|RCV002057963; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79368044 | 79368044 | G | A | 4:g.79368044G>A | ClinGen:CA2977679 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6010+13C>T | 80144 | FRAS1 | Benign | rs75774018 | RCV000278438|RCV002061249; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79368047 | 79368047 | C | T | 4:g.79368047C>T | ClinGen:CA2977680 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6039T>C (p.Ser2013=) | 80144 | FRAS1 | Benign | rs76472539 | RCV000342802|RCV000864603; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79369235 | 79369235 | T | C | 4:g.79369235T>C | ClinGen:CA2977688 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6124C>T (p.Pro2042Ser) | 80144 | FRAS1 | Benign | rs60539739 | RCV000378700|RCV000872358; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79369320 | 79369320 | C | T | 4:g.79369320C>T | ClinGen:CA2977703 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6202A>T (p.Lys2068Ter) | 80144 | FRAS1 | Pathogenic | -1 | RCV001376187; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79369398 | 79369398 | A | T | 79369398 | - | | |
NM_025074.7(FRAS1):c.6252C>T (p.Asn2084=) | 80144 | FRAS1 | Benign | rs114956797 | RCV000284259|RCV000864604; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79369448 | 79369448 | C | T | 4:g.79369448C>T | ClinGen:CA2977726 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) | 80144 | FRAS1 | Uncertain significance | rs193229946 | RCV001151693|RCV001858992; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79371316 | 79371316 | C | T | 4:g.79371316C>T | - | | |
NM_025074.7(FRAS1):c.6301C>T (p.His2101Tyr) | 80144 | FRAS1 | Benign/Likely benign | rs183398121 | RCV000339469|RCV000871375|RCV001821070; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN169374 | 4 | 79371331 | 79371331 | C | T | 4:g.79371331C>T | ClinGen:CA2977747 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6303C>G (p.His2101Gln) | 80144 | FRAS1 | Uncertain significance | rs1718978389 | RCV001197810; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79371333 | 79371333 | C | G | 4:g.79371333C>G | - | | |
NM_025074.7(FRAS1):c.6342del (p.Met2115fs) | 80144 | FRAS1 | Likely pathogenic | -1 | RCV001807683; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79371371 | 79371371 | GT | G | 79371370 | - | | |
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) | 80144 | FRAS1 | Pathogenic | -1 | RCV001645008; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79371463 | 79371463 | C | T | 79371463 | - | | |
NM_025074.7(FRAS1):c.6444C>T (p.Thr2148=) | 80144 | FRAS1 | Benign | rs17003235 | RCV000243803|RCV000396201|RCV002058349; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79371474 | 79371474 | C | T | NC_000004.11:g.79371474C>T | ClinGen:CA2977783 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6468C>T (p.His2156=) | 80144 | FRAS1 | Benign | rs753752 | RCV000178609|RCV000309112|RCV002054119; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79372930 | 79372930 | C | T | 4:g.79372930C>T | ClinGen:CA202954 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6530T>C (p.Val2177Ala) | 80144 | FRAS1 | Benign/Likely benign | rs76345011 | RCV000274838|RCV000907976|RCV001152933; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79372992 | 79372992 | T | C | 4:g.79372992T>C | ClinGen:CA2977816 | CN169374 not specified; | |
NM_025074.7(FRAS1):c.6569C>T (p.Ser2190Phe) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs200166354 | RCV000345247|RCV000980053; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79373031 | 79373031 | C | T | NC_000004.11:g.79373031C>T | ClinGen:CA2977821 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6608C>T (p.Thr2203Ile) | 80144 | FRAS1 | Benign | rs114373602 | RCV000399402|RCV000864605; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79373353 | 79373353 | C | T | NC_000004.11:g.79373353C>T | ClinGen:CA2977842 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6622C>T (p.Leu2208=) | 80144 | FRAS1 | Uncertain significance | rs373744776 | RCV000315047; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79373367 | 79373367 | C | T | NC_000004.11:g.79373367C>T | ClinGen:CA2977843 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6681C>G (p.Asp2227Glu) | 80144 | FRAS1 | Uncertain significance | rs776374326 | RCV001152934; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79373426 | 79373426 | C | G | 4:g.79373426C>G | - | | |
NM_025074.7(FRAS1):c.6684G>A (p.Gln2228=) | 80144 | FRAS1 | Uncertain significance | rs759150629 | RCV000369746; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79373429 | 79373429 | G | A | NC_000004.11:g.79373429G>A | ClinGen:CA2977853 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6691G>A (p.Gly2231Arg) | 80144 | FRAS1 | Benign | rs76623027 | RCV000407561|RCV000864606; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79373436 | 79373436 | G | A | NC_000004.11:g.79373436G>A | ClinGen:CA2977857 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6726G>A (p.Gln2242=) | 80144 | FRAS1 | Uncertain significance | rs761562615 | RCV000312500; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79373471 | 79373471 | G | A | NC_000004.11:g.79373471G>A | ClinGen:CA2977863 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6727C>T (p.Pro2243Ser) | 80144 | FRAS1 | Uncertain significance | rs764783509 | RCV000355589; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79373472 | 79373472 | C | T | NC_000004.11:g.79373472C>T | ClinGen:CA2977864 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6754G>A (p.Ala2252Thr) | 80144 | FRAS1 | Benign | rs78404051 | RCV000263041|RCV000864607; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79373499 | 79373499 | G | A | NC_000004.11:g.79373499G>A | ClinGen:CA2977868 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6763+12A>G | 80144 | FRAS1 | Benign/Likely benign | rs185282133 | RCV001155568|RCV002070910; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79373520 | 79373520 | A | G | 4:g.79373520A>G | - | | |
NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter) | 80144 | FRAS1 | Pathogenic | -1 | RCV001387516|RCV001780361; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79385216 | 79385216 | C | T | 79385216 | - | | |
NM_025074.7(FRAS1):c.6806G>A (p.Arg2269Gln) | 80144 | FRAS1 | Uncertain significance | rs771923121 | RCV000315946; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79385217 | 79385217 | G | A | NC_000004.11:g.79385217G>A | ClinGen:CA2977895 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6924C>T (p.Val2308=) | 80144 | FRAS1 | Benign | rs13123710 | RCV000253422|RCV000354292|RCV002058350; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79385632 | 79385632 | C | T | NC_000004.11:g.79385632C>T | ClinGen:CA2977932 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6932C>T (p.Ser2311Leu) | 80144 | FRAS1 | Uncertain significance | rs202092409 | RCV000266447; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79385640 | 79385640 | C | T | NC_000004.11:g.79385640C>T | ClinGen:CA2977936 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=) | 80144 | FRAS1 | Benign/Likely benign | rs150936204 | RCV000324038|RCV000876609|RCV001821071; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN169374 | 4 | 79385647 | 79385647 | C | T | NC_000004.11:g.79385647C>T | ClinGen:CA2977938 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs) | 80144 | FRAS1 | Pathogenic | rs730882179 | RCV000002949|RCV001093377; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79385669 | 79385670 | C | CGG | 4:g.79385669_79385670insGG | ClinGen:CA212804,OMIM:607830.0007 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7011G>A (p.Ala2337=) | 80144 | FRAS1 | Benign | rs6851427 | RCV000246034|RCV000376269|RCV002058351; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79385719 | 79385719 | G | A | NC_000004.11:g.79385719G>A | ClinGen:CA2977955 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7029+7G>A | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs183687186 | RCV000733473|RCV001157257; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79385744 | 79385744 | G | A | NC_000004.11:g.79385744G>A | - | | |
NM_025074.7(FRAS1):c.7029+9A>C | 80144 | FRAS1 | Benign/Likely benign | rs188606284 | RCV000283913|RCV000865347|RCV001701865; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN169374 | 4 | 79385746 | 79385746 | A | C | NC_000004.11:g.79385746A>C | ClinGen:CA2977960 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7030-6G>A | 80144 | FRAS1 | Uncertain significance | -1 | RCV002052240; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79387356 | 79387356 | G | A | 79387356 | - | | |
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs56291926 | RCV000305628|RCV001157258; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79387365 | 79387365 | G | A | 4:g.79387365G>A | ClinGen:CA2977978 | CN169374 not specified; | |
NM_025074.7(FRAS1):c.7035G>A (p.Glu2345=) | 80144 | FRAS1 | Uncertain significance | rs886059633 | RCV000327285; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79387367 | 79387367 | G | A | NC_000004.11:g.79387367G>A | ClinGen:CA10621737 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs201369510 | RCV000384240|RCV000488371|RCV001824664; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN169374 | 4 | 79387371 | 79387371 | G | T | 4:g.79387371G>T | ClinGen:CA246305 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7074C>T (p.Gly2358=) | 80144 | FRAS1 | Benign | rs7660641 | RCV000287606|RCV000872359; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79387406 | 79387406 | C | T | NC_000004.11:g.79387406C>T | ClinGen:CA2977990 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter) | 80144 | FRAS1 | Likely pathogenic | rs777438557 | RCV001283829; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79387416 | 79387416 | C | T | 79387416 | - | | |
NM_025074.7(FRAS1):c.7085G>A (p.Arg2362Gln) | 80144 | FRAS1 | Uncertain significance | rs865839705 | RCV001157259; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79387417 | 79387417 | G | A | 4:g.79387417G>A | - | | |
NM_025074.7(FRAS1):c.7110C>T (p.His2370=) | 80144 | FRAS1 | Benign | rs7660664 | RCV000249146|RCV000351573|RCV001651252; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79387442 | 79387442 | C | T | NC_000004.11:g.79387442C>T | ClinGen:CA2977998 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu) | 80144 | FRAS1 | Benign | rs7684722 | RCV000253922|RCV000395153|RCV001711577; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79387464 | 79387464 | A | G | NC_000004.11:g.79387464A>G | ClinGen:CA2978000 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7219A>T (p.Thr2407Ser) | 80144 | FRAS1 | Uncertain significance | rs886059634 | RCV000293042; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79387551 | 79387551 | A | T | NC_000004.11:g.79387551A>T | ClinGen:CA10619267 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7223A>G (p.Asn2408Ser) | 80144 | FRAS1 | Uncertain significance | rs201277074 | RCV000350355|RCV001573892; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79387555 | 79387555 | A | G | NC_000004.11:g.79387555A>G | ClinGen:CA2978013 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7238T>C (p.Ile2413Thr) | 80144 | FRAS1 | Uncertain significance | rs199596557 | RCV001151797; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79387570 | 79387570 | T | C | 4:g.79387570T>C | - | | |
NM_025074.7(FRAS1):c.7254dup (p.Glu2419fs) | 80144 | FRAS1 | Pathogenic | -1 | RCV001535834; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79387582 | 79387583 | G | GA | 79387582 | - | | |
NM_025074.7(FRAS1):c.7254A>G (p.Lys2418=) | 80144 | FRAS1 | Benign | rs34840208 | RCV000398451|RCV001702627|RCV002061250; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN517202 | 4 | 79387586 | 79387586 | A | G | NC_000004.11:g.79387586A>G | ClinGen:CA2978020 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7371+11T>C | 80144 | FRAS1 | Benign | rs7664505 | RCV000245741|RCV000301405|RCV002058352; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79391256 | 79391256 | T | C | NC_000004.11:g.79391256T>C | ClinGen:CA2978069 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7422C>A (p.Thr2474=) | 80144 | FRAS1 | Uncertain significance | rs759674249 | RCV001151798; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79393384 | 79393384 | C | A | 4:g.79393384C>A | - | | |
NM_025074.7(FRAS1):c.7441T>A (p.Tyr2481Asn) | 80144 | FRAS1 | Uncertain significance | rs148042277 | RCV001153047; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79393403 | 79393403 | T | A | 4:g.79393403T>A | - | | |
NM_025074.7(FRAS1):c.7451C>T (p.Thr2484Met) | 80144 | FRAS1 | Uncertain significance | rs200888184 | RCV000354018|RCV001591011; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79393413 | 79393413 | C | T | NC_000004.11:g.79393413C>T | ClinGen:CA2978101 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7522+1G>T | 80144 | FRAS1 | Pathogenic | rs730882180 | RCV000002950; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79393485 | 79393485 | G | T | NC_000004.11:g.79393485G>T | ClinGen:CA212805,OMIM:607830.0008 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7522+12C>G | 80144 | FRAS1 | Uncertain significance | rs188066525 | RCV000400371; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79393496 | 79393496 | C | G | NC_000004.11:g.79393496C>G | ClinGen:CA2978123 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7523-3_7523-2del | 80144 | FRAS1 | Likely pathogenic | -1 | RCV001781128; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79394587 | 79394588 | TCA | T | 79394586 | - | | |
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs745597204 | RCV000223984|RCV000778741|RCV001328302; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805, Orphanet:93545 | 4 | 79394620 | 79394620 | T | A | NC_000004.11:g.79394620T>A | ClinGen:CA2978147 | | |
NM_025074.7(FRAS1):c.7573C>T (p.Arg2525Cys) | 80144 | FRAS1 | Uncertain significance | rs376675521 | RCV001153048; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79394642 | 79394642 | C | T | 4:g.79394642C>T | - | | |
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs144530996 | RCV000304479|RCV000873180; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79394691 | 79394691 | A | G | NC_000004.11:g.79394691A>G | ClinGen:CA2978164 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7633G>A (p.Asp2545Asn) | 80144 | FRAS1 | Benign | rs4388111 | RCV000361577|RCV000870847; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79394702 | 79394702 | G | A | NC_000004.11:g.79394702G>A | ClinGen:CA2978166 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg) | 80144 | FRAS1 | Benign | rs183712679 | RCV000265000|RCV000870879; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79394721 | 79394721 | A | G | NC_000004.11:g.79394721A>G | ClinGen:CA2978167 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7701G>A (p.Lys2567=) | 80144 | FRAS1 | Benign | rs79849142 | RCV000322445|RCV000870678; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79396610 | 79396610 | G | A | NC_000004.11:g.79396610G>A | ClinGen:CA2978185 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7722G>A (p.Thr2574=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs569422992 | RCV000365383|RCV000916600; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79396631 | 79396631 | G | A | NC_000004.11:g.79396631G>A | ClinGen:CA2978191 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7758C>T (p.Ile2586=) | 80144 | FRAS1 | Benign | rs77602894 | RCV000273188|RCV000870679; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79396667 | 79396667 | C | T | NC_000004.11:g.79396667C>T | ClinGen:CA2978201 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.7826del (p.Gln2609fs) | 80144 | FRAS1 | Pathogenic | -1 | RCV001783310; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79396735 | 79396735 | CA | C | 79396734 | - | | |
NM_025074.7(FRAS1):c.7923T>C (p.Asn2641=) | 80144 | FRAS1 | Uncertain significance | rs765455808 | RCV000325784; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79399040 | 79399040 | T | C | NC_000004.11:g.79399040T>C | ClinGen:CA2978251 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8002A>G (p.Asn2668Asp) | 80144 | FRAS1 | Uncertain significance | rs760944447 | RCV001155667; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79399119 | 79399119 | A | G | 4:g.79399119A>G | - | | |
NM_025074.7(FRAS1):c.8004C>T (p.Asn2668=) | 80144 | FRAS1 | Uncertain significance | rs886059635 | RCV000382746; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79399121 | 79399121 | C | T | NC_000004.11:g.79399121C>T | ClinGen:CA10621738 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8010C>T (p.Thr2670=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs370597256 | RCV000872609|RCV001155668; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79399127 | 79399127 | C | T | 4:g.79399127C>T | - | | |
NM_025074.7(FRAS1):c.8098+1G>T | 80144 | FRAS1 | Pathogenic | rs376088537 | RCV001172435; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79399216 | 79399216 | G | T | 4:g.79399216G>T | - | | |
NM_025074.7(FRAS1):c.8125A>G (p.Ile2709Val) | 80144 | FRAS1 | Uncertain significance | rs762129626 | RCV000294681; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79400554 | 79400554 | A | G | NC_000004.11:g.79400554A>G | ClinGen:CA2978292 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8215G>A (p.Ala2739Thr) | 80144 | FRAS1 | Benign | rs192476468 | RCV000872043|RCV001155669|RCV001727814; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374 | 4 | 79400644 | 79400644 | G | A | 4:g.79400644G>A | - | | |
NM_025074.7(FRAS1):c.8295G>A (p.Glu2765=) | 80144 | FRAS1 | Uncertain significance | rs372900422 | RCV001157345; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79400724 | 79400724 | G | A | 4:g.79400724G>A | - | | |
NM_025074.7(FRAS1):c.8329T>C (p.Ser2777Pro) | 80144 | FRAS1 | Uncertain significance | rs773401610 | RCV001157346; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79400758 | 79400758 | T | C | 4:g.79400758T>C | - | | |
NM_025074.7(FRAS1):c.8341C>T (p.Arg2781Cys) | 80144 | FRAS1 | Uncertain significance | rs190483418 | RCV001157347; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79400770 | 79400770 | C | T | 4:g.79400770C>T | - | | |
NM_025074.7(FRAS1):c.8414A>G (p.Asn2805Ser) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs117838818 | RCV000864878|RCV001157348|RCV001252860; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:000 | 4 | 79400843 | 79400843 | A | G | 4:g.79400843A>G | - | | |
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met) | 80144 | FRAS1 | Benign | rs114190041 | RCV000333266|RCV000870652; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79400846 | 79400846 | C | T | NC_000004.11:g.79400846C>T | ClinGen:CA2978352 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8439C>T (p.Asp2813=) | 80144 | FRAS1 | Benign | rs11098194 | RCV000251274|RCV000385525|RCV002058353; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79400868 | 79400868 | C | T | NC_000004.11:g.79400868C>T | ClinGen:CA2978357 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8440G>A (p.Ala2814Thr) | 80144 | FRAS1 | Uncertain significance | rs559602357 | RCV001157349; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79400869 | 79400869 | G | A | 4:g.79400869G>A | - | | |
NM_025074.7(FRAS1):c.8440G>T (p.Ala2814Ser) | 80144 | FRAS1 | Uncertain significance | rs559602357 | RCV001157350; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79400869 | 79400869 | G | T | 4:g.79400869G>T | - | | |
NM_025074.7(FRAS1):c.8441C>T (p.Ala2814Val) | 80144 | FRAS1 | Uncertain significance | rs886059636 | RCV000293603; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79400870 | 79400870 | C | T | NC_000004.11:g.79400870C>T | ClinGen:CA10618351 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8443+8A>G | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs373820698 | RCV000336626|RCV000926026; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79400880 | 79400880 | A | G | 4:g.79400880A>G | ClinGen:CA2978361 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8444-15T>C | 80144 | FRAS1 | Uncertain significance | rs373332959 | RCV000394370; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79402943 | 79402943 | T | C | 4:g.79402943T>C | ClinGen:CA2978374 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8460A>G (p.Pro2820=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs200879198 | RCV001151898|RCV002070842; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79402974 | 79402974 | A | G | 4:g.79402974A>G | - | | |
NM_025074.7(FRAS1):c.8486C>A (p.Ser2829Tyr) | 80144 | FRAS1 | Benign/Likely benign | rs376788346 | RCV000278244|RCV002061251; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79403000 | 79403000 | C | A | 4:g.79403000C>A | ClinGen:CA2978389 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8515C>T (p.Arg2839Trp) | 80144 | FRAS1 | Uncertain significance | rs373073168 | RCV000335599; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79403029 | 79403029 | C | T | 4:g.79403029C>T | ClinGen:CA2978400 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8535T>A (p.Ser2845=) | 80144 | FRAS1 | Uncertain significance | rs773905369 | RCV001151899; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79403049 | 79403049 | T | A | 4:g.79403049T>A | - | | |
NM_025074.7(FRAS1):c.8556C>T (p.Tyr2852=) | 80144 | FRAS1 | Uncertain significance | rs778885038 | RCV000394378; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79403070 | 79403070 | C | T | 4:g.79403070C>T | ClinGen:CA2978409 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8574G>A (p.Lys2858=) | 80144 | FRAS1 | Benign/Likely benign | rs201745281 | RCV000305485|RCV000872020|RCV001821072; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN169374 | 4 | 79403088 | 79403088 | G | A | 4:g.79403088G>A | ClinGen:CA2978413 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8602C>T (p.Gln2868Ter) | 80144 | FRAS1 | Pathogenic | rs120074156 | RCV000002943; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79403116 | 79403116 | C | T | 4:g.79403116C>T | OMIM:607830.0001,ClinGen:CA115769 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8604+5G>A | 80144 | FRAS1 | Likely pathogenic | rs200282443 | RCV001172428|RCV001328204; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805, Orphanet:93545 | 4 | 79403123 | 79403123 | G | A | 4:g.79403123G>A | - | | |
NM_025074.7(FRAS1):c.8605-7C>T | 80144 | FRAS1 | Uncertain significance | rs765550592 | RCV000339255; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79403535 | 79403535 | C | T | 4:g.79403535C>T | ClinGen:CA2978447 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8613C>G (p.Thr2871=) | 80144 | FRAS1 | Uncertain significance | rs758106272 | RCV000400902; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79403550 | 79403550 | C | G | 4:g.79403550C>G | ClinGen:CA2978449 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8643G>A (p.Pro2881=) | 80144 | FRAS1 | Uncertain significance | rs749014065 | RCV000309042; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79403580 | 79403580 | G | A | 4:g.79403580G>A | ClinGen:CA2978457 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8698G>A (p.Glu2900Lys) | 80144 | FRAS1 | Likely benign | rs150998139 | RCV000366027|RCV000903182; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79403635 | 79403635 | G | A | 4:g.79403635G>A | ClinGen:CA2978467 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8705C>T (p.Thr2902Ile) | 80144 | FRAS1 | Uncertain significance | rs757116242 | RCV000269170; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79403642 | 79403642 | C | T | 4:g.79403642C>T | ClinGen:CA2978469 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8725A>T (p.Ile2909Phe) | 80144 | FRAS1 | Uncertain significance | rs367742749 | RCV001153158; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79403662 | 79403662 | A | T | 4:g.79403662A>T | - | | |
NM_025074.7(FRAS1):c.8745C>T (p.Phe2915=) | 80144 | FRAS1 | Benign | rs41327848 | RCV000243075|RCV000307968|RCV002058354; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79403682 | 79403682 | C | T | NC_000004.11:g.79403682C>T | ClinGen:CA2978475 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) | 80144 | FRAS1 | Benign/Likely benign | rs114854941 | RCV000729980|RCV000870746|RCV001155759; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79410108 | 79410108 | C | T | NC_000004.11:g.79410108C>T | - | | |
NM_025074.7(FRAS1):c.8844C>T (p.Ser2948=) | 80144 | FRAS1 | Uncertain significance | rs778096225 | RCV001155760; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79410120 | 79410120 | C | T | 4:g.79410120C>T | - | | |
NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe) | 80144 | FRAS1 | Uncertain significance | rs200212920 | RCV000179228|RCV001155761; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79410122 | 79410122 | A | T | 4:g.79410122A>T | ClinGen:CA246504 | CN169374 not specified; | |
NM_025074.7(FRAS1):c.8940A>G (p.Thr2980=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs375788413 | RCV000864267|RCV001155762; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79410216 | 79410216 | A | G | 4:g.79410216A>G | - | | |
NM_025074.7(FRAS1):c.8958+4A>G | 80144 | FRAS1 | Uncertain significance | rs368613886 | RCV000370839; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79410238 | 79410238 | A | G | 4:g.79410238A>G | ClinGen:CA2978529 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8959-11A>G | 80144 | FRAS1 | Benign | rs112232078 | RCV000273855|RCV002057964; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79417948 | 79417948 | A | G | 4:g.79417948A>G | ClinGen:CA2978545 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.8985C>T (p.His2995=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs201241555 | RCV000331250|RCV000895641; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79417985 | 79417985 | C | T | 4:g.79417985C>T | ClinGen:CA2978550 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9013C>T (p.Gln3005Ter) | 80144 | FRAS1 | Pathogenic | rs120074157 | RCV000002944; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79418013 | 79418013 | C | T | 4:g.79418013C>T | ClinGen:CA115771,OMIM:607830.0002 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9111A>G (p.Glu3037=) | 80144 | FRAS1 | Uncertain significance | rs1720523467 | RCV001155763; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79418111 | 79418111 | A | G | 4:g.79418111A>G | - | | |
NM_025074.7(FRAS1):c.9116-11T>C | 80144 | FRAS1 | Benign | rs7677541 | RCV000246248|RCV000374156|RCV001668587; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79420864 | 79420864 | T | C | NC_000004.11:g.79420864T>C | ClinGen:CA2978585 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9116-6C>T | 80144 | FRAS1 | Benign | rs76630865 | RCV000241899|RCV001157469; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79420869 | 79420869 | C | T | NC_000004.11:g.79420869C>T | ClinGen:CA2978587 | CN169374 not specified; | |
NM_025074.7(FRAS1):c.9116-5C>G | 80144 | FRAS1 | Benign | rs7695038 | RCV000250938|RCV000263121|RCV001668588; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79420870 | 79420870 | C | G | NC_000004.11:g.79420870C>G | ClinGen:CA2978588 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9123_9124del (p.Thr3041_Ile3042insTer) | 80144 | FRAS1 | Likely pathogenic | -1 | RCV001535980; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79420882 | 79420883 | CCA | C | 79420881 | - | | |
NM_025074.7(FRAS1):c.9154C>T (p.Arg3052Trp) | 80144 | FRAS1 | Uncertain significance | rs779931297 | RCV000316018; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79420913 | 79420913 | C | T | 4:g.79420913C>T | ClinGen:CA2978598 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9161C>G (p.Pro3054Arg) | 80144 | FRAS1 | Uncertain significance | rs754878371 | RCV001157470; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79420920 | 79420920 | C | G | 4:g.79420920C>G | - | | |
NM_025074.7(FRAS1):c.9163G>A (p.Ala3055Thr) | 80144 | FRAS1 | Uncertain significance | rs375885501 | RCV001157471; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79420922 | 79420922 | G | A | 4:g.79420922G>A | - | | |
NM_025074.7(FRAS1):c.9182C>T (p.Ala3061Val) | 80144 | FRAS1 | Uncertain significance | rs886059637 | RCV000372844; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79420941 | 79420941 | C | T | NC_000004.11:g.79420941C>T | ClinGen:CA10619287 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9183G>A (p.Ala3061=) | 80144 | FRAS1 | Benign | rs139589570 | RCV000285466|RCV000870934; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79420942 | 79420942 | G | A | NC_000004.11:g.79420942G>A | ClinGen:CA2978605 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9252G>T (p.Arg3084=) | 80144 | FRAS1 | Benign | rs11933630 | RCV000246697|RCV000342606|RCV002058355; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79421011 | 79421011 | G | T | 4:g.79421011G>T | ClinGen:CA2978620 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9291G>A (p.Lys3097=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs376458338 | RCV000376218|RCV000865063; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79421050 | 79421050 | G | A | NC_000004.11:g.79421050G>A | ClinGen:CA2978626 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs149692526 | RCV000872021|RCV001151993|RCV001817014; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374 | 4 | 79421055 | 79421055 | G | A | 4:g.79421055G>A | - | | |
NM_025074.7(FRAS1):c.9316+2T>A | 80144 | FRAS1 | Pathogenic | rs1358085095 | RCV001172406; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79421077 | 79421077 | T | A | 4:g.79421077T>A | - | | |
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs200346497 | RCV000179606|RCV000207380|RCV001151994; | N | MedGen:CN517202|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79428622 | 79428622 | C | T | 4:g.79428622C>T | ClinGen:CA246910 | CN235161 Anophthalmia - microphthalmia; | |
NM_025074.7(FRAS1):c.9446C>T (p.Thr3149Met) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs150680111 | RCV000872022|RCV001151995|RCV001817015; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374 | 4 | 79428704 | 79428704 | C | T | 4:g.79428704C>T | - | | |
NM_025074.7(FRAS1):c.9466G>T (p.Glu3156Ter) | 80144 | FRAS1 | Pathogenic | rs1227013948 | RCV001172431; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79428724 | 79428724 | G | T | 4:g.79428724G>T | - | | |
NM_025074.7(FRAS1):c.9478A>G (p.Ser3160Gly) | 80144 | FRAS1 | Uncertain significance | rs763114326 | RCV001151996; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79428736 | 79428736 | A | G | 4:g.79428736A>G | - | | |
NM_025074.7(FRAS1):c.9505-4G>A | 80144 | FRAS1 | Uncertain significance | rs367680303 | RCV000284151; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79429881 | 79429881 | G | A | NC_000004.11:g.79429881G>A | ClinGen:CA2978685 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9538G>A (p.Glu3180Lys) | 80144 | FRAS1 | Uncertain significance | rs369950838 | RCV001153257; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79429918 | 79429918 | G | A | 4:g.79429918G>A | - | | |
NM_025074.7(FRAS1):c.9541G>A (p.Val3181Ile) | 80144 | FRAS1 | Uncertain significance | rs1464507728 | RCV001153258; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79429921 | 79429921 | G | A | 4:g.79429921G>A | - | | |
NM_025074.7(FRAS1):c.9602C>T (p.Pro3201Leu) | 80144 | FRAS1 | Uncertain significance | rs886059638 | RCV000346175; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79429982 | 79429982 | C | T | NC_000004.11:g.79429982C>T | ClinGen:CA10619290 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9607G>A (p.Asp3203Asn) | 80144 | FRAS1 | Uncertain significance | rs540286890 | RCV000396675; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79429987 | 79429987 | G | A | NC_000004.11:g.79429987G>A | ClinGen:CA2978710 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9621del (p.Arg3208fs) | 80144 | FRAS1 | Uncertain significance | rs1560418388 | RCV000778742; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79429998 | 79429998 | TC | T | NC_000004.11:g.79430001del | - | | |
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs377369857 | RCV000281353|RCV001153259; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79430007 | 79430007 | C | T | 4:g.79430007C>T | ClinGen:CA2978715 | CN169374 not specified; | |
NM_025074.7(FRAS1):c.9627C>A (p.Tyr3209Ter) | 80144 | FRAS1 | Pathogenic | rs377369857 | RCV001172436; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79430007 | 79430007 | C | A | 4:g.79430007C>A | - | | |
NM_025074.7(FRAS1):c.9630T>C (p.Ala3210=) | 80144 | FRAS1 | Uncertain significance | rs761161131 | RCV000306470; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79430010 | 79430010 | T | C | NC_000004.11:g.79430010T>C | ClinGen:CA2978717 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9658G>A (p.Gly3220Ser) | 80144 | FRAS1 | Uncertain significance | rs552881646 | RCV000344955; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79430038 | 79430038 | G | A | NC_000004.11:g.79430038G>A | ClinGen:CA2978725 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9759A>G (p.Pro3253=) | 80144 | FRAS1 | Benign | rs61741742 | RCV000401830|RCV000870807; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79430139 | 79430139 | A | G | NC_000004.11:g.79430139A>G | ClinGen:CA2978746 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) | 80144 | FRAS1 | Benign/Likely benign | rs61729366 | RCV000179644|RCV000315339|RCV000577951|RCV000872220; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|Human Phenotype Ontology:HP:0000776,Human Phenotype Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833, Orphanet:2140|MedGen:CN517202 | 4 | 79432453 | 79432453 | G | A | 4:g.79432453G>A | ClinGen:CA203377 | C0235833 142340 Congenital diaphragmatic hernia; | |
NM_025074.7(FRAS1):c.9808A>C (p.Arg3270=) | 80144 | FRAS1 | Benign | rs3749488 | RCV000367732|RCV002057965|RCV001702011; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN169374 | 4 | 79432455 | 79432455 | A | C | NC_000004.11:g.79432455A>C | ClinGen:CA2978770 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala) | 80144 | FRAS1 | Uncertain significance | rs78006948 | RCV001155855|RCV001573252; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79432474 | 79432474 | T | C | 4:g.79432474T>C | - | | |
NM_025074.7(FRAS1):c.9853C>T (p.His3285Tyr) | 80144 | FRAS1 | Benign/Likely benign | rs182196851 | RCV000870931|RCV001155856; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79432500 | 79432500 | C | T | 4:g.79432500C>T | - | | |
NM_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu) | 80144 | FRAS1 | Benign | rs78619145 | RCV000275489|RCV000870653; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79432602 | 79432602 | C | G | NC_000004.11:g.79432602C>G | ClinGen:CA2978810 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10002G>A (p.Glu3334=) | 80144 | FRAS1 | Benign | rs80346282 | RCV000300153|RCV000865493; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79432649 | 79432649 | G | A | NC_000004.11:g.79432649G>A | ClinGen:CA2978817 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10008G>A (p.Pro3336=) | 80144 | FRAS1 | Benign/Likely benign | rs76120498 | RCV000357479|RCV000873324; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79432655 | 79432655 | G | A | NC_000004.11:g.79432655G>A | ClinGen:CA2978819 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10014-14del | 80144 | FRAS1 | Uncertain significance | rs779194826 | RCV000260277; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79434531 | 79434531 | GC | G | NC_000004.11:g.79434532del | ClinGen:CA2978840 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10041C>G (p.His3347Gln) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs552676865 | RCV001157554|RCV002032458; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79434573 | 79434573 | C | G | 4:g.79434573C>G | - | | |
NM_025074.7(FRAS1):c.10077G>A (p.Pro3359=) | 80144 | FRAS1 | Benign/Likely benign | rs183724131 | RCV000875622|RCV001157555; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79434609 | 79434609 | G | A | 4:g.79434609G>A | - | | |
NM_025074.7(FRAS1):c.10091A>G (p.His3364Arg) | 80144 | FRAS1 | Uncertain significance | rs922004210 | RCV001157556; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79434623 | 79434623 | A | G | 4:g.79434623A>G | - | | |
NM_025074.7(FRAS1):c.10140T>A (p.Asn3380Lys) | 80144 | FRAS1 | Uncertain significance | rs753588022 | RCV001172437; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79434672 | 79434672 | T | A | 4:g.79434672T>A | - | | |
NM_025074.7(FRAS1):c.10153T>G (p.Tyr3385Asp) | 80144 | FRAS1 | Benign | rs35933858 | RCV000253044|RCV000317853|RCV002058341; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79434685 | 79434685 | T | G | NC_000004.11:g.79434685T>G | ClinGen:CA2978870 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro) | 80144 | FRAS1 | Benign | rs137982616 | RCV000873268|RCV001157557; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79434692 | 79434692 | T | C | 4:g.79434692T>C | - | | |
NM_025074.7(FRAS1):c.10166G>C (p.Gly3389Ala) | 80144 | FRAS1 | Uncertain significance | rs745919146 | RCV001157558; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79434698 | 79434698 | G | C | 4:g.79434698G>C | - | | |
NM_025074.7(FRAS1):c.10174+1G>A | 80144 | FRAS1 | Uncertain significance | rs1560420794 | RCV000778743; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79434707 | 79434707 | G | A | NC_000004.11:g.79434707G>A | - | | |
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=) | 80144 | FRAS1 | Benign | rs34034599 | RCV000379498|RCV000870654; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79437008 | 79437008 | C | T | NC_000004.11:g.79437008C>T | ClinGen:CA2978893 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10249G>A (p.Asp3417Asn) | 80144 | FRAS1 | Uncertain significance | rs373601771 | RCV001157559; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79437027 | 79437027 | G | A | 4:g.79437027G>A | - | | |
NM_025074.7(FRAS1):c.10269G>T (p.Pro3423=) | 80144 | FRAS1 | Benign | rs34806279 | RCV000268638|RCV000865361; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79437047 | 79437047 | G | T | NC_000004.11:g.79437047G>T | ClinGen:CA2978910 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10278C>T (p.Ile3426=) | 80144 | FRAS1 | Benign | rs34678339 | RCV000321330|RCV000865362; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79437056 | 79437056 | C | T | NC_000004.11:g.79437056C>T | ClinGen:CA2978914 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10287del (p.Leu3428_Tyr3429insTer) | 80144 | FRAS1 | Pathogenic | rs886037765 | RCV000257971; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79437065 | 79437065 | AC | A | NC_000004.11:g.79437065del | ClinGen:CA10575842 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10299C>A (p.Asn3433Lys) | 80144 | FRAS1 | Uncertain significance | rs377102088 | RCV001152097; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79437077 | 79437077 | C | A | 4:g.79437077C>A | - | | |
NM_025074.7(FRAS1):c.10377C>T (p.Thr3459=) | 80144 | FRAS1 | Benign | rs3749487 | RCV000244857|RCV000378270|RCV002058342; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79437155 | 79437155 | C | T | NC_000004.11:g.79437155C>T | ClinGen:CA2978931 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10389+11C>T | 80144 | FRAS1 | Benign | rs74632598 | RCV000248810|RCV000290835|RCV002058343; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79437178 | 79437178 | C | T | NC_000004.11:g.79437178C>T | ClinGen:CA2978937 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10390-6C>T | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs139412411 | RCV000329374|RCV002057966; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79440479 | 79440479 | C | T | NC_000004.11:g.79440479C>T | ClinGen:CA2978955 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10390-5G>A | 80144 | FRAS1 | Uncertain significance | rs753366978 | RCV000381660; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79440480 | 79440480 | G | A | NC_000004.11:g.79440480G>A | ClinGen:CA2978956 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10425C>T (p.His3475=) | 80144 | FRAS1 | Benign/Likely benign | rs376096303 | RCV000289608|RCV000955144; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79440520 | 79440520 | C | T | NC_000004.11:g.79440520C>T | ClinGen:CA2978963 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10442C>T (p.Ser3481Phe) | 80144 | FRAS1 | Uncertain significance | rs886059640 | RCV000351532; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79440537 | 79440537 | C | T | NC_000004.11:g.79440537C>T | ClinGen:CA10618384 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10494C>T (p.Thr3498=) | 80144 | FRAS1 | Benign | rs149604281 | RCV000395253|RCV002057967; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79440589 | 79440589 | C | T | NC_000004.11:g.79440589C>T | ClinGen:CA2978978 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=) | 80144 | FRAS1 | Benign/Likely benign | rs199921300 | RCV000293521|RCV000334777|RCV000885162; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN517202 | 4 | 79440634 | 79440634 | A | G | 4:g.79440634A>G | ClinGen:CA2978984 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10541-1G>A | 80144 | FRAS1 | Pathogenic | rs1721385740 | RCV001172438; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79442676 | 79442676 | G | A | 4:g.79442676G>A | - | | |
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val) | 80144 | FRAS1 | Benign/Likely benign | rs144715071 | RCV000336848|RCV000406248|RCV000870808; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN517202 | 4 | 79442730 | 79442730 | A | G | 4:g.79442730A>G | ClinGen:CA2979013 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10598G>A (p.Arg3533Gln) | 80144 | FRAS1 | Benign | rs115878217 | RCV000870848|RCV001153365|RCV001817001; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374 | 4 | 79442734 | 79442734 | G | A | 4:g.79442734G>A | - | | |
NM_025074.7(FRAS1):c.10609C>T (p.Arg3537Cys) | 80144 | FRAS1 | Uncertain significance | rs779521854 | RCV000400178|RCV000494230; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79442745 | 79442745 | C | T | NC_000004.11:g.79442745C>T | ClinGen:CA2979020 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10610G>A (p.Arg3537His) | 80144 | FRAS1 | Uncertain significance | rs547089905 | RCV001153366; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79442746 | 79442746 | G | A | 4:g.79442746G>A | - | | |
NM_025074.7(FRAS1):c.10648+13C>A | 80144 | FRAS1 | Uncertain significance | rs886059641 | RCV000297127; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79442797 | 79442797 | C | A | NC_000004.11:g.79442797C>A | ClinGen:CA10621745 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10648+24_10648+25del | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs397994139 | RCV000399918|RCV002057968; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79442800 | 79442801 | GTT | G | NC_000004.11:g.79442808_79442809del | ClinGen:CA2979030 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10648+25del | 80144 | FRAS1 | Benign | rs397994139 | RCV000354281|RCV002061252; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79442800 | 79442800 | GT | G | NC_000004.11:g.79442809del | ClinGen:CA2979029 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10649-29T>A | 80144 | FRAS1 | Benign | -1 | RCV001703309; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79443774 | 79443774 | T | A | 79443774 | - | | |
NM_025074.7(FRAS1):c.10683A>T (p.Glu3561Asp) | 80144 | FRAS1 | Benign | rs931605 | RCV000253563|RCV000305288|RCV002058344; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79443837 | 79443837 | A | T | NC_000004.11:g.79443837A>T | ClinGen:CA2979047 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10689A>T (p.Lys3563Asn) | 80144 | FRAS1 | Uncertain significance | rs886059643 | RCV000357873; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79443843 | 79443843 | A | T | NC_000004.11:g.79443843A>T | ClinGen:CA10618402 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10696G>A (p.Val3566Ile) | 80144 | FRAS1 | Benign | rs931606 | RCV000245288|RCV000265442|RCV002058345; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79443850 | 79443850 | G | A | NC_000004.11:g.79443850G>A | ClinGen:CA2979050 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10724T>C (p.Ile3575Thr) | 80144 | FRAS1 | Uncertain significance | rs202198985 | RCV001155971; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79443878 | 79443878 | T | C | 4:g.79443878T>C | - | | |
NM_025074.7(FRAS1):c.10743A>G (p.Leu3581=) | 80144 | FRAS1 | Uncertain significance | rs886059644 | RCV000327684; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79443897 | 79443897 | A | G | NC_000004.11:g.79443897A>G | ClinGen:CA10619320 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10753G>A (p.Ala3585Thr) | 80144 | FRAS1 | Uncertain significance | rs748159035 | RCV001155972; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79443907 | 79443907 | G | A | 4:g.79443907G>A | - | | |
NM_025074.7(FRAS1):c.10809-12G>T | 80144 | FRAS1 | Uncertain significance | rs886059645 | RCV000365952; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79447683 | 79447683 | G | T | NC_000004.11:g.79447683G>T | ClinGen:CA10621746 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10809-11C>T | 80144 | FRAS1 | Uncertain significance | rs1721539751 | RCV001155973; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79447684 | 79447684 | C | T | 4:g.79447684C>T | - | | |
NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter) | 80144 | FRAS1 | Pathogenic | rs1006839535 | RCV000782142; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79447706 | 79447706 | C | G | 4:g.79447706C>G | - | | |
NM_025074.7(FRAS1):c.10852A>G (p.Thr3618Ala) | 80144 | FRAS1 | Likely benign | rs192225415 | RCV000269085; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79447738 | 79447738 | A | G | NC_000004.11:g.79447738A>G | ClinGen:CA2979089 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10869G>A (p.Gln3623=) | 80144 | FRAS1 | Uncertain significance | rs778772211 | RCV000326546; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79447755 | 79447755 | G | A | 4:g.79447755G>A | ClinGen:CA2979091 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10877T>C (p.Val3626Ala) | 80144 | FRAS1 | Benign | rs34670941 | RCV000250854|RCV000388114|RCV002058346; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79447763 | 79447763 | T | C | NC_000004.11:g.79447763T>C | ClinGen:CA2979092 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.10999C>T (p.Gln3667Ter) | 80144 | FRAS1 | Pathogenic | rs1721821279 | RCV001172439; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79455676 | 79455676 | C | T | 4:g.79455676C>T | - | | |
NM_025074.7(FRAS1):c.11037C>G (p.Pro3679=) | 80144 | FRAS1 | Benign | rs4975070 | RCV000245809|RCV000292730|RCV001683114; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79455714 | 79455714 | C | G | NC_000004.11:g.79455714C>G | ClinGen:CA2979122 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11056C>T (p.Leu3686=) | 80144 | FRAS1 | Benign | rs4975139 | RCV000250559|RCV000333665|RCV001536205; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79455733 | 79455733 | C | T | NC_000004.11:g.79455733C>T | ClinGen:CA2979124 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11073C>G (p.Tyr3691Ter) | 80144 | FRAS1 | Likely pathogenic | -1 | RCV001781129; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79455750 | 79455750 | C | G | 79455750 | - | | |
NM_025074.7(FRAS1):c.11111G>A (p.Arg3704Gln) | 80144 | FRAS1 | Uncertain significance | rs141843124 | RCV000388115; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79458167 | 79458167 | G | A | 4:g.79458167G>A | ClinGen:CA2979152 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11158C>T (p.Gln3720Ter) | 80144 | FRAS1 | Pathogenic | rs1219344385 | RCV001172410; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79458214 | 79458214 | C | T | 4:g.79458214C>T | - | | |
NM_025074.7(FRAS1):c.11220G>A (p.Thr3740=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs182887871 | RCV000279659|RCV000911142; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79458276 | 79458276 | G | A | 4:g.79458276G>A | ClinGen:CA2979166 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11237A>C (p.Glu3746Ala) | 80144 | FRAS1 | Uncertain significance | rs1721910256 | RCV001152203; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79458293 | 79458293 | A | C | 4:g.79458293A>C | - | | |
NM_025074.7(FRAS1):c.11252G>A (p.Gly3751Glu) | 80144 | FRAS1 | Uncertain significance | rs1484025134 | RCV001152204; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79458308 | 79458308 | G | A | 4:g.79458308G>A | - | | |
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs199510509 | RCV000334766|RCV000388584; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79458320 | 79458320 | C | T | 4:g.79458320C>T | ClinGen:CA2979180 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11270_11273del (p.Lys3757fs) | 80144 | FRAS1 | Pathogenic | rs1578380159 | RCV000768557; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79458320 | 79458323 | CCAAA | C | 4:g.79458320_79458323del | - | | |
NM_025074.7(FRAS1):c.11298+1G>A | 80144 | FRAS1 | Pathogenic | rs371268544 | RCV001172420; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79458355 | 79458355 | G | A | 4:g.79458355G>A | - | | |
NM_025074.7(FRAS1):c.11299-8A>C | 80144 | FRAS1 | Uncertain significance | rs368551584 | RCV000394486; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79460440 | 79460440 | A | C | 4:g.79460440A>C | ClinGen:CA2979199 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11302C>T (p.Arg3768Cys) | 80144 | FRAS1 | Uncertain significance | rs750736066 | RCV000280709; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79460451 | 79460451 | C | T | 4:g.79460451C>T | ClinGen:CA2979201 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser) | 80144 | FRAS1 | Uncertain significance | rs112039037 | RCV000403674|RCV000764553; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79460455 | 79460455 | A | G | 4:g.79460455A>G | ClinGen:CA2979202 | CN169374 not specified; | |
NM_025074.7(FRAS1):c.11445+5_11445+11delinsC | 80144 | FRAS1 | Likely pathogenic | rs1721982733 | RCV001172440; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79460599 | 79460605 | GTTTGGT | C | 4:g.79460600_79460605del | - | | |
NM_025074.7(FRAS1):c.11445+68_11445+69del | 80144 | FRAS1 | Benign | rs3062747 | RCV000987453; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79460648 | 79460649 | GAA | G | 4:g.79460648_79460649del | - | | |
NM_025074.7(FRAS1):c.11473C>T (p.Gln3825Ter) | 80144 | FRAS1 | Pathogenic | rs765622092 | RCV001172425; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79461712 | 79461712 | C | T | 4:g.79461712C>T | - | | |
NM_025074.7(FRAS1):c.11475G>C (p.Gln3825His) | 80144 | FRAS1 | Uncertain significance | rs1722015455 | RCV001152205; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79461714 | 79461714 | G | C | 4:g.79461714G>C | - | | |
NM_025074.7(FRAS1):c.11510G>C (p.Gly3837Ala) | 80144 | FRAS1 | Uncertain significance | rs1722017063 | RCV001152206; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79461749 | 79461749 | G | C | 4:g.79461749G>C | - | | |
NM_025074.7(FRAS1):c.11559G>A (p.Arg3853=) | 80144 | FRAS1 | Uncertain significance | rs989874672 | RCV001153490; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79461798 | 79461798 | G | A | 4:g.79461798G>A | - | | |
NM_025074.7(FRAS1):c.11589C>T (p.Ile3863=) | 80144 | FRAS1 | Uncertain significance | rs763508870 | RCV000340486; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79461828 | 79461828 | C | T | 4:g.79461828C>T | ClinGen:CA2979261 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val) | 80144 | FRAS1 | Benign/Likely benign | rs145035489 | RCV000283373|RCV000394472|RCV000870810; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79461844 | 79461844 | A | G | 4:g.79461844A>G | ClinGen:CA2979264 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11637T>C (p.Asn3879=) | 80144 | FRAS1 | Uncertain significance | rs147734882 | RCV001153491; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79461876 | 79461876 | T | C | 4:g.79461876T>C | - | | |
NM_025074.7(FRAS1):c.11681C>T (p.Ala3894Val) | 80144 | FRAS1 | Uncertain significance | rs772941624 | RCV000305214|RCV001861242; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79461920 | 79461920 | C | T | 4:g.79461920C>T | ClinGen:CA2979274 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11682G>A (p.Ala3894=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs376389151 | RCV000902787|RCV001153492; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79461921 | 79461921 | G | A | 4:g.79461921G>A | - | | |
NM_025074.7(FRAS1):c.11690C>T (p.Ala3897Val) | 80144 | FRAS1 | Uncertain significance | rs373595232 | RCV000360016; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79461929 | 79461929 | C | T | 4:g.79461929C>T | ClinGen:CA2979277 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11695C>T (p.Leu3899=) | 80144 | FRAS1 | Benign/Likely benign | rs367723684 | RCV001153493|RCV002070869; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79461934 | 79461934 | C | T | 4:g.79461934C>T | - | | |
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs61748814 | RCV000660411|RCV001572828; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79461956 | 79461956 | T | C | 4:g.79461956T>C | - | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11718T>C (p.Ile3906=) | 80144 | FRAS1 | Benign/Likely benign | rs142389362 | RCV000343079|RCV000399146|RCV000870811; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79461957 | 79461957 | T | C | 4:g.79461957T>C | ClinGen:CA2979287 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11720G>T (p.Gly3907Val) | 80144 | FRAS1 | Benign | rs61748815 | RCV000864695|RCV001156090|RCV001729722; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374 | 4 | 79461959 | 79461959 | G | T | 4:g.79461959G>T | - | | |
NM_025074.7(FRAS1):c.11724T>C (p.Ser3908=) | 80144 | FRAS1 | Benign/Likely benign | rs151307846 | RCV000279868|RCV000306234|RCV000870812; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79461963 | 79461963 | T | C | 4:g.79461963T>C | ClinGen:CA2979289 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11726C>T (p.Ala3909Val) | 80144 | FRAS1 | Uncertain significance | rs367860092 | RCV001156091; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79461965 | 79461965 | C | T | 4:g.79461965C>T | - | | |
NM_025074.7(FRAS1):c.11811G>A (p.Lys3937=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs373149321 | RCV000886339|RCV001156092; | N | MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462050 | 79462050 | G | A | 4:g.79462050G>A | - | | |
NM_025074.7(FRAS1):c.11815G>A (p.Ala3939Thr) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs375807410 | RCV001156093|RCV002070921; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79462054 | 79462054 | G | A | 4:g.79462054G>A | - | | |
NM_025074.7(FRAS1):c.11882G>A (p.Arg3961Gln) | 80144 | FRAS1 | Uncertain significance | rs370319615 | RCV000365847; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462121 | 79462121 | G | A | 4:g.79462121G>A | ClinGen:CA2979321 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11895C>T (p.Asn3965=) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs372802938 | RCV000271265|RCV000915001; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 4 | 79462134 | 79462134 | C | T | 4:g.79462134C>T | ClinGen:CA2979325 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11897dup (p.Asn3967fs) | 80144 | FRAS1 | Pathogenic | rs1560433104 | RCV000782358; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462135 | 79462136 | G | GT | 4:g.79462135_79462136insT | - | | |
NM_025074.7(FRAS1):c.11902A>G (p.Arg3968Gly) | 80144 | FRAS1 | Uncertain significance | rs550166836 | RCV000330920; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462141 | 79462141 | A | G | 4:g.79462141A>G | ClinGen:CA2979328 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln) | 80144 | FRAS1 | Conflicting interpretations of pathogenicity | rs140492803 | RCV000366948|RCV000405453|RCV000870813; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN517202 | 4 | 79462146 | 79462146 | C | G | 4:g.79462146C>G | ClinGen:CA2979329 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11920C>T (p.Arg3974Trp) | 80144 | FRAS1 | Uncertain significance | rs759074187 | RCV000276616; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462159 | 79462159 | C | T | 4:g.79462159C>T | ClinGen:CA2979333 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.11925C>T (p.Asn3975=) | 80144 | FRAS1 | Uncertain significance | rs368578398 | RCV000317661; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462164 | 79462164 | C | T | 4:g.79462164C>T | ClinGen:CA2979335 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*5G>A | 80144 | FRAS1 | Uncertain significance | rs764066985 | RCV001157784; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462283 | 79462283 | G | A | 4:g.79462283G>A | - | | |
NM_025074.7(FRAS1):c.*33T>A | 80144 | FRAS1 | Benign | rs72659058 | RCV000372407; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462311 | 79462311 | T | A | 4:g.79462311T>A | ClinGen:CA2979360 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*78G>T | 80144 | FRAS1 | Benign | rs77632937 | RCV000263749; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462356 | 79462356 | G | T | 4:g.79462356G>T | ClinGen:CA10619327 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*84A>G | 80144 | FRAS1 | Uncertain significance | rs886059646 | RCV000318966; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462362 | 79462362 | A | G | NC_000004.11:g.79462362A>G | ClinGen:CA10618432 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*117C>T | 80144 | FRAS1 | Uncertain significance | rs886059647 | RCV000378301; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462395 | 79462395 | C | T | NC_000004.11:g.79462395C>T | ClinGen:CA10621750 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*122C>T | 80144 | FRAS1 | Uncertain significance | rs886059648 | RCV000283349; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462400 | 79462400 | C | T | NC_000004.11:g.79462400C>T | ClinGen:CA10619328 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*219T>C | 80144 | FRAS1 | Uncertain significance | rs145739907 | RCV001152305; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462497 | 79462497 | T | C | 4:g.79462497T>C | - | | |
NM_025074.7(FRAS1):c.*221G>A | 80144 | FRAS1 | Uncertain significance | rs748263373 | RCV001152306; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462499 | 79462499 | G | A | 4:g.79462499G>A | - | | |
NM_025074.7(FRAS1):c.*258G>A | 80144 | FRAS1 | Benign | rs114161007 | RCV001152307; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462536 | 79462536 | G | A | 4:g.79462536G>A | - | | |
NM_025074.7(FRAS1):c.*282A>T | 80144 | FRAS1 | Benign | rs3749485 | RCV000342970; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462560 | 79462560 | A | T | NC_000004.11:g.79462560A>T | ClinGen:CA10621753 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*319A>G | 80144 | FRAS1 | Uncertain significance | rs1722048477 | RCV001152308; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462597 | 79462597 | A | G | 4:g.79462597A>G | - | | |
NM_025074.7(FRAS1):c.*374C>T | 80144 | FRAS1 | Uncertain significance | rs560026397 | RCV000379512; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462652 | 79462652 | C | T | NC_000004.11:g.79462652C>T | ClinGen:CA10618434 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*388C>G | 80144 | FRAS1 | Benign | rs75970105 | RCV000289772; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462666 | 79462666 | C | G | NC_000004.11:g.79462666C>G | ClinGen:CA10621749 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*391C>T | 80144 | FRAS1 | Likely benign | rs564787250 | RCV001153591; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462669 | 79462669 | C | T | 4:g.79462669C>T | - | | |
NM_025074.7(FRAS1):c.*415A>G | 80144 | FRAS1 | Uncertain significance | rs759045899 | RCV001153592; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462693 | 79462693 | A | G | 4:g.79462693A>G | - | | |
NM_025074.7(FRAS1):c.*455C>T | 80144 | FRAS1 | Uncertain significance | rs774956318 | RCV001153593; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462733 | 79462733 | C | T | 4:g.79462733C>T | - | | |
NM_025074.7(FRAS1):c.*460A>G | 80144 | FRAS1 | Uncertain significance | rs760216437 | RCV000344629; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462738 | 79462738 | A | G | NC_000004.11:g.79462738A>G | ClinGen:CA10619329 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*503T>C | 80144 | FRAS1 | Benign | rs3749484 | RCV000399062; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462781 | 79462781 | T | C | NC_000004.11:g.79462781T>C | ClinGen:CA10621762 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*518dup | 80144 | FRAS1 | Benign | rs397752464 | RCV000309498; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462793 | 79462794 | A | AT | NC_000004.11:g.79462796dup | ClinGen:CA10618438 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*530G>A | 80144 | FRAS1 | Uncertain significance | rs544866402 | RCV000350325; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462808 | 79462808 | G | A | NC_000004.11:g.79462808G>A | ClinGen:CA10621767 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*708C>A | 80144 | FRAS1 | Benign | rs111636328 | RCV000401953; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462986 | 79462986 | C | A | NC_000004.11:g.79462986C>A | ClinGen:CA10621763 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*709G>A | 80144 | FRAS1 | Benign | rs115458096 | RCV000315379; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79462987 | 79462987 | G | A | NC_000004.11:g.79462987G>A | ClinGen:CA10618441 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*731C>G | 80144 | FRAS1 | Benign | rs116483248 | RCV000369247; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463009 | 79463009 | C | G | NC_000004.11:g.79463009C>G | ClinGen:CA10618445 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*751T>G | 80144 | FRAS1 | Benign | rs6832584 | RCV000260448; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463029 | 79463029 | T | G | NC_000004.11:g.79463029T>G | ClinGen:CA10619330 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*761A>G | 80144 | FRAS1 | Uncertain significance | rs975095044 | RCV001156207; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463039 | 79463039 | A | G | 4:g.79463039A>G | - | | |
NM_025074.7(FRAS1):c.*808C>T | 80144 | FRAS1 | Benign | rs59820455 | RCV000296870; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463086 | 79463086 | C | T | NC_000004.11:g.79463086C>T | ClinGen:CA10621768 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*824T>G | 80144 | FRAS1 | Uncertain significance | rs1218870035 | RCV001156208; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463102 | 79463102 | T | G | 4:g.79463102T>G | - | | |
NM_025074.7(FRAS1):c.*880C>A | 80144 | FRAS1 | Uncertain significance | rs886059649 | RCV000356377; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463158 | 79463158 | C | A | NC_000004.11:g.79463158C>A | ClinGen:CA10621775 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*893C>G | 80144 | FRAS1 | Uncertain significance | rs563929109 | RCV000261787; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463171 | 79463171 | C | G | NC_000004.11:g.79463171C>G | ClinGen:CA10621786 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*897T>G | 80144 | FRAS1 | Uncertain significance | rs1722072306 | RCV001157882; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463175 | 79463175 | T | G | 4:g.79463175T>G | - | | |
NM_025074.7(FRAS1):c.*926C>T | 80144 | FRAS1 | Uncertain significance | rs1227739524 | RCV001157883; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463204 | 79463204 | C | T | 4:g.79463204C>T | - | | |
NM_025074.7(FRAS1):c.*938A>G | 80144 | FRAS1 | Uncertain significance | rs559819253 | RCV000321662; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463216 | 79463216 | A | G | NC_000004.11:g.79463216A>G | ClinGen:CA10618447 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*957G>C | 80144 | FRAS1 | Uncertain significance | rs886059650 | RCV000376194; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463235 | 79463235 | G | C | NC_000004.11:g.79463235G>C | ClinGen:CA10621787 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*985G>A | 80144 | FRAS1 | Uncertain significance | rs1722075087 | RCV001157884; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463263 | 79463263 | G | A | 4:g.79463263G>A | - | | |
NM_025074.7(FRAS1):c.*1085C>T | 80144 | FRAS1 | Likely benign | rs570309641 | RCV000267707; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463363 | 79463363 | C | T | NC_000004.11:g.79463363C>T | ClinGen:CA10621796 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*1210G>A | 80144 | FRAS1 | Uncertain significance | rs886059651 | RCV000322909; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463488 | 79463488 | G | A | NC_000004.11:g.79463488G>A | ClinGen:CA10618450 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*1289G>A | 80144 | FRAS1 | Benign | rs113324102 | RCV000382128; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463567 | 79463567 | G | A | NC_000004.11:g.79463567G>A | ClinGen:CA10619334 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*1301G>A | 80144 | FRAS1 | Benign | rs3210826 | RCV000287806; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463579 | 79463579 | G | A | NC_000004.11:g.79463579G>A | ClinGen:CA10621797 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*1303G>A | 80144 | FRAS1 | Uncertain significance | rs1167568461 | RCV001152410; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463581 | 79463581 | G | A | 4:g.79463581G>A | - | | |
NM_025074.7(FRAS1):c.*1345C>T | 80144 | FRAS1 | Uncertain significance | rs886059652 | RCV000347474; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463623 | 79463623 | C | T | NC_000004.11:g.79463623C>T | ClinGen:CA10621798 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*1384C>T | 80144 | FRAS1 | Uncertain significance | rs771590846 | RCV000383430; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463662 | 79463662 | C | T | NC_000004.11:g.79463662C>T | ClinGen:CA10618452 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*1444T>C | 80144 | FRAS1 | Uncertain significance | rs569011445 | RCV001152411; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463722 | 79463722 | T | C | 4:g.79463722T>C | - | | |
NM_025074.7(FRAS1):c.*1547C>G | 80144 | FRAS1 | Uncertain significance | rs186398273 | RCV001152412; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463825 | 79463825 | C | G | 4:g.79463825C>G | - | | |
NM_025074.7(FRAS1):c.*1578T>C | 80144 | FRAS1 | Uncertain significance | rs776119595 | RCV001152413; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463856 | 79463856 | T | C | 4:g.79463856T>C | - | | |
NM_025074.7(FRAS1):c.*1613C>T | 80144 | FRAS1 | Uncertain significance | rs952918668 | RCV001153682; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463891 | 79463891 | C | T | 4:g.79463891C>T | - | | |
NM_025074.7(FRAS1):c.*1616C>T | 80144 | FRAS1 | Uncertain significance | rs1722098731 | RCV001153683; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463894 | 79463894 | C | T | 4:g.79463894C>T | - | | |
NM_025074.7(FRAS1):c.*1666G>A | 80144 | FRAS1 | Uncertain significance | rs1374310535 | RCV001153684; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463944 | 79463944 | G | A | 4:g.79463944G>A | - | | |
NM_025074.7(FRAS1):c.*1669A>C | 80144 | FRAS1 | Uncertain significance | rs886059653 | RCV000293971; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463947 | 79463947 | A | C | NC_000004.11:g.79463947A>C | ClinGen:CA10618453 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*1698G>C | 80144 | FRAS1 | Uncertain significance | rs1303968996 | RCV001153685; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79463976 | 79463976 | G | C | 4:g.79463976G>C | - | | |
NM_025074.7(FRAS1):c.*1741T>G | 80144 | FRAS1 | Uncertain significance | rs772863115 | RCV001153686; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464019 | 79464019 | T | G | 4:g.79464019T>G | - | | |
NM_025074.7(FRAS1):c.*1752T>C | 80144 | FRAS1 | Uncertain significance | rs762849572 | RCV001153687; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464030 | 79464030 | T | C | 4:g.79464030T>C | - | | |
NM_025074.7(FRAS1):c.*1787G>A | 80144 | FRAS1 | Uncertain significance | rs549532188 | RCV000348876; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464065 | 79464065 | G | A | NC_000004.11:g.79464065G>A | ClinGen:CA10621800 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*1810C>T | 80144 | FRAS1 | Uncertain significance | rs1029985381 | RCV001153688; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464088 | 79464088 | C | T | 4:g.79464088C>T | - | | |
NM_025074.7(FRAS1):c.*1814G>A | 80144 | FRAS1 | Benign | rs17003321 | RCV000395423; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464092 | 79464092 | G | A | NC_000004.11:g.79464092G>A | ClinGen:CA10621769 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*1995G>T | 80144 | FRAS1 | Benign | rs72873318 | RCV000298548; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464273 | 79464273 | G | T | NC_000004.11:g.79464273G>T | ClinGen:CA10621783 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2028C>G | 80144 | FRAS1 | Uncertain significance | rs1027128705 | RCV001156293; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464306 | 79464306 | C | G | 4:g.79464306C>G | - | | |
NM_025074.7(FRAS1):c.*2091T>C | 80144 | FRAS1 | Uncertain significance | rs764203320 | RCV000334852; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464369 | 79464369 | T | C | NC_000004.11:g.79464369T>C | ClinGen:CA10621808 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2154C>T | 80144 | FRAS1 | Benign | rs3811747 | RCV000395453; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464432 | 79464432 | C | T | 4:g.79464432C>T | ClinGen:CA10621784 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2223G>A | 80144 | FRAS1 | Uncertain significance | rs1722113270 | RCV001156294; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464501 | 79464501 | G | A | 4:g.79464501G>A | - | | |
NM_025074.7(FRAS1):c.*2261C>T | 80144 | FRAS1 | Uncertain significance | rs886059654 | RCV000299732; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464539 | 79464539 | C | T | 4:g.79464539C>T | ClinGen:CA10618454 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2294G>A | 80144 | FRAS1 | Uncertain significance | rs988779314 | RCV001157965; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464572 | 79464572 | G | A | 4:g.79464572G>A | - | | |
NM_025074.7(FRAS1):c.*2324G>A | 80144 | FRAS1 | Likely benign | rs186095111 | RCV000358998; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464602 | 79464602 | G | A | 4:g.79464602G>A | ClinGen:CA10621792 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2350C>T | 80144 | FRAS1 | Uncertain significance | rs886059655 | RCV000264265; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464628 | 79464628 | C | T | 4:g.79464628C>T | ClinGen:CA10618462 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2369C>T | 80144 | FRAS1 | Uncertain significance | rs959327675 | RCV001157966; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464647 | 79464647 | C | T | 4:g.79464647C>T | - | | |
NM_025074.7(FRAS1):c.*2370G>A | 80144 | FRAS1 | Benign | rs116617672 | RCV000305480; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464648 | 79464648 | G | A | 4:g.79464648G>A | ClinGen:CA10618466 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2489T>C | 80144 | FRAS1 | Benign | rs11098227 | RCV000360200; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464767 | 79464767 | T | C | 4:g.79464767T>C | ClinGen:CA10619345 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2490G>A | 80144 | FRAS1 | Uncertain significance | rs186193838 | RCV001157967; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464768 | 79464768 | G | A | 4:g.79464768G>A | - | | |
NM_025074.7(FRAS1):c.*2512C>T | 80144 | FRAS1 | Uncertain significance | rs886059656 | RCV000269947; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464790 | 79464790 | C | T | 4:g.79464790C>T | ClinGen:CA10621794 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2672A>G | 80144 | FRAS1 | Likely benign | rs144020017 | RCV000324993; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464950 | 79464950 | A | G | 4:g.79464950A>G | ClinGen:CA10621799 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2700G>A | 80144 | FRAS1 | Benign | rs11098228 | RCV000365626; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79464978 | 79464978 | G | A | 4:g.79464978G>A | ClinGen:CA10621802 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2811T>A | 80144 | FRAS1 | Benign | rs114574352 | RCV000271036; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79465089 | 79465089 | T | A | 4:g.79465089T>A | ClinGen:CA10618467 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2824_*2825insTTTT | 80144 | FRAS1 | Benign | rs397724155 | RCV000331007; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79465100 | 79465101 | A | ATTTT | 4:g.79465100_79465101insTTTT | ClinGen:CA10621805 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2931del | 80144 | FRAS1 | Likely benign | rs139811866 | RCV000385536; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79465209 | 79465209 | TA | T | 4:g.79465209_79465209del | ClinGen:CA10621810 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*2941A>T | 80144 | FRAS1 | Uncertain significance | rs1259558413 | RCV001152508; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79465219 | 79465219 | A | T | 4:g.79465219A>T | - | | |
NM_025074.7(FRAS1):c.*2951A>T | 80144 | FRAS1 | Uncertain significance | rs1722136952 | RCV001152509; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79465229 | 79465229 | A | T | 4:g.79465229A>T | - | | |
NM_025074.7(FRAS1):c.*2957T>A | 80144 | FRAS1 | Uncertain significance | rs553394027 | RCV000295922; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79465235 | 79465235 | T | A | 4:g.79465235T>A | ClinGen:CA10619346 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*3092A>G | 80144 | FRAS1 | Benign | rs17003335 | RCV000332139; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79465370 | 79465370 | A | G | 4:g.79465370A>G | ClinGen:CA10621811 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.7(FRAS1):c.*3142G>T | 80144 | FRAS1 | Likely benign | rs183140136 | RCV000373476; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79465420 | 79465420 | G | T | 4:g.79465420G>T | ClinGen:CA10618468 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_025074.6(FRAS1):c.*3146_*3149delTTTG | 80144 | FRAS1 | Likely benign | rs148508826 | RCV000297090; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 4 | 79465424 | 79465427 | TTTTG | T | 4:g.79465424_79465427del | ClinGen:CA10654674 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.5(FREM2):c.-285C>G | 341640 | FREM2 | Uncertain significance | rs573143355 | RCV000309662; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39261197 | 39261197 | C | G | NC_000013.10:g.39261197C>G | ClinGen:CA10644372 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.135G>T (p.Pro45=) | 341640 | FREM2 | Uncertain significance | rs886050186 | RCV000335661; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39261616 | 39261616 | G | T | 13:g.39261616G>T | ClinGen:CA10644390 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.576G>A (p.Glu192=) | 341640 | FREM2 | Benign | rs1868464 | RCV000250281|RCV000347448|RCV001094138|RCV001683149|RCV001701927; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MedGen:CN517202|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570, Orphanet:91396 | 13 | 39262057 | 39262057 | G | A | 13:g.39262057G>A | ClinGen:CA6954237 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.2233= (p.Pro745=) | 341640 | FREM2 | Benign | rs2496423 | RCV000173610|RCV000357309|RCV001094162|RCV002054052; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MedGen:CN517202 | 13 | 39263714 | 39263714 | T | C | 13:g.39263714T>C | ClinGen:CA200643 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.2250C>T (p.Asp750=) | 341640 | FREM2 | Benign | rs41292755 | RCV000173611|RCV000405344|RCV001094163|RCV002054053; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MedGen:CN517202 | 13 | 39263731 | 39263731 | C | T | 13:g.39263731C>T | ClinGen:CA200645 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) | 341640 | FREM2 | Benign/Likely benign | rs2496425 | RCV000173599|RCV000380412|RCV001094147|RCV001701776|RCV001618326; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570, Orphanet:91396|MedGen:CN517202 | 13 | 39264690 | 39264690 | T | C | 13:g.39264690T>C | ClinGen:CA200635 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr) | 341640 | FREM2 | Uncertain significance | rs767743882 | RCV000662066|RCV000662065; | N | MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39343807 | 39343807 | G | A | 13:g.39343807G>A | - | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs) | 341640 | FREM2 | Likely pathogenic | rs752032044 | RCV000826108; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39422776 | 39422777 | CCA | C | 13:g.39422776_39422777del | - | | |
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile) | 341640 | FREM2 | Benign | rs9548509 | RCV000241670|RCV000369162|RCV001094086|RCV001610764|RCV001701832; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MedGen:CN517202|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570, Orphanet:91396 | 13 | 39430314 | 39430314 | C | T | NC_000013.10:g.39430314C>T | ClinGen:CA6955734 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.7520-5del | 341640 | FREM2 | Benign/Likely benign | rs36084034 | RCV000289348|RCV002056383; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 13 | 39435553 | 39435553 | CT | C | NC_000013.10:g.39435563del | ClinGen:CA6955897 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) | 341640 | FREM2 | Benign/Likely benign | rs116099212 | RCV000176440|RCV000224494|RCV000989101|RCV001110834; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666 | 13 | 39453010 | 39453010 | G | A | 13:g.39453010G>A | ClinGen:CA201942 | CN517202 not provided; | |
NM_207361.6(FREM2):c.*1666_*1667del | 341640 | FREM2 | Uncertain significance | rs534520921 | RCV000386617; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39456590 | 39456591 | CTG | C | NC_000013.10:g.39456590_39456591del | ClinGen:CA10643435 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.*1897CCTTT[3] | 341640 | FREM2 | Uncertain significance | rs886050201 | RCV000390064; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39456820 | 39456821 | C | CCCTTT | 13:g.39456820_39456821insCCTTT | ClinGen:CA10639512 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.*2390_*2392del | 341640 | FREM2 | Likely benign | rs149897768 | RCV000312459; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39457314 | 39457316 | CAGA | C | 13:g.39457314_39457316del | ClinGen:CA10644453 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.*2458G>C | 341640 | FREM2 | Uncertain significance | rs886050203 | RCV000277222; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39457382 | 39457382 | G | C | 13:g.39457382G>C | ClinGen:CA10634319 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.*3718A>G | 341640 | FREM2 | Uncertain significance | rs886050208 | RCV000335797; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39458642 | 39458642 | A | G | NC_000013.10:g.39458642A>G | ClinGen:CA10644458 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.*5530TTG[1] | 341640 | FREM2 | Uncertain significance | rs886050212 | RCV000374822; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39460453 | 39460455 | AGTT | A | NC_000013.10:g.39460454TTG[1] | ClinGen:CA10639531 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.*5552CA[6] | 341640 | FREM2 | Uncertain significance | rs886050213 | RCV000348299; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39460475 | 39460476 | TAC | T | NC_000013.10:g.39460476CA[6] | ClinGen:CA10634354 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.*5552C>T | 341640 | FREM2 | Uncertain significance | rs886050214 | RCV000401610; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39460476 | 39460476 | C | T | NC_000013.10:g.39460476C>T | ClinGen:CA10644469 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.*5590TA[6] | 341640 | FREM2 | Uncertain significance | rs34936389 | RCV000345748; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39460512 | 39460513 | C | CAT | NC_000013.10:g.39460514TA[6] | ClinGen:CA10644478 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.*5600GA[7] | 341640 | FREM2 | Uncertain significance | rs5802960 | RCV000267139; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39460522 | 39460523 | T | TAG | 13:g.39460522_39460523insAG | ClinGen:CA10639534 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.*5615_*5616insG | 341640 | FREM2 | Uncertain significance | rs886050216 | RCV000296053; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39460539 | 39460540 | A | AG | NC_000013.10:g.39460539_39460540insG | ClinGen:CA10644481 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.*5627del | 341640 | FREM2 | Benign | rs5802961 | RCV000385673; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39460540 | 39460540 | AT | A | 13:g.39460540_39460540del | ClinGen:CA10644483 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.*5870del | 341640 | FREM2 | Uncertain significance | rs886050220 | RCV000347531; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39460792 | 39460792 | TC | T | 13:g.39460792_39460792del | ClinGen:CA10643460 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_207361.6(FREM2):c.*6148_*6151del | 341640 | FREM2 | Uncertain significance | rs886050221 | RCV000401046; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 13 | 39461072 | 39461075 | ACATT | A | 13:g.39461072_39461075del | ClinGen:CA10634355 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*1559dup | 23426 | GRIP1 | Uncertain significance | rs886049786 | RCV000292149; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66741239 | 66741240 | T | TA | NC_000012.11:g.66741243dup | ClinGen:CA10638413 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*1548_*1551dup | 23426 | GRIP1 | Uncertain significance | rs886049787 | RCV000349520; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66741247 | 66741248 | C | CTGTT | NC_000012.11:g.66741249_66741252dup | ClinGen:CA10633491 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*1524_*1527del | 23426 | GRIP1 | Likely benign | rs148261691 | RCV000373835; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66741272 | 66741275 | TTTTA | T | NC_000012.11:g.66741275_66741278del | ClinGen:CA10638414 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*1495_*1497dup | 23426 | GRIP1 | Uncertain significance | rs553937765 | RCV000281731; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66741301 | 66741302 | A | AATT | NC_000012.11:g.66741302_66741304dup | ClinGen:CA10633492 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*1422_*1426del | 23426 | GRIP1 | Uncertain significance | rs886049788 | RCV000334443; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66741373 | 66741377 | ATACTT | A | NC_000012.11:g.66741376_66741380del | ClinGen:CA10642355 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*1388_*1390dup | 23426 | GRIP1 | Uncertain significance | rs886049789 | RCV000390700; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66741408 | 66741409 | A | AAAT | NC_000012.11:g.66741410_66741412dup | ClinGen:CA10643223 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*1299_*1301dup | 23426 | GRIP1 | Likely benign | rs200995788 | RCV000397406; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66741497 | 66741498 | G | GTGA | NC_000012.11:g.66741499_66741501dup | ClinGen:CA10638416 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*1261dup | 23426 | GRIP1 | Conflicting interpretations of pathogenicity | rs35499444 | RCV000366384; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66741537 | 66741538 | A | AT | NC_000012.11:g.66741547dup | ClinGen:CA10638425 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*1261del | 23426 | GRIP1 | Benign | rs35499444 | RCV000308024; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66741538 | 66741538 | AT | A | NC_000012.11:g.66741547del | ClinGen:CA10638424 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*752TAT[3] | 23426 | GRIP1 | Uncertain significance | rs148302164 | RCV000262519; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66742041 | 66742042 | G | GATA | NC_000012.11:g.66742042ATA[3] | ClinGen:CA10643229 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*753_*757del | 23426 | GRIP1 | Uncertain significance | rs886049793 | RCV000319962; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66742042 | 66742046 | GATAAT | G | NC_000012.11:g.66742046_66742050del | ClinGen:CA10638435 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*735_*738dup | 23426 | GRIP1 | Uncertain significance | rs551666983 | RCV000372545; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66742060 | 66742061 | A | ATGTT | NC_000012.11:g.66742062_66742065dup | ClinGen:CA10633494 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*723_*725dup | 23426 | GRIP1 | Uncertain significance | rs886049794 | RCV000280372; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66742073 | 66742074 | A | ACTC | NC_000012.11:g.66742074_66742076dup | ClinGen:CA10642362 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*695_*697dup | 23426 | GRIP1 | Likely benign | rs201977256 | RCV000380569; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66742101 | 66742102 | C | CTAT | NC_000012.11:g.66742104_66742106dup | ClinGen:CA10643233 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*679dup | 23426 | GRIP1 | Uncertain significance | rs367709432 | RCV000282787; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66742119 | 66742120 | T | TA | NC_000012.11:g.66742129dup | ClinGen:CA10633495 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*655_*657dup | 23426 | GRIP1 | Likely benign | rs138816960 | RCV000340093; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66742141 | 66742142 | A | ACAT | NC_000012.11:g.66742142_66742144dup | ClinGen:CA10642363 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*647_*650dup | 23426 | GRIP1 | Likely benign | rs200677568 | RCV000404098; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66742148 | 66742149 | C | CTGTT | NC_000012.11:g.66742151_66742154dup | ClinGen:CA10638437 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.*85_*87dup | 23426 | GRIP1 | Uncertain significance | rs553542220 | RCV000355925; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66742711 | 66742712 | T | TATC | 12:g.66742711_66742712insATC | ClinGen:CA10643237 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.2464+15T>C | 23426 | GRIP1 | Benign | rs7970076 | RCV000252195|RCV000290142|RCV001094207|RCV001597023; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN517202 | 12 | 66786073 | 66786073 | A | G | 12:g.66786073A>G | ClinGen:CA6674124 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu) | 23426 | GRIP1 | Benign | rs13277 | RCV000247437|RCV000328734|RCV001094208|RCV001683102; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN517202 | 12 | 66786091 | 66786091 | G | C | 12:g.66786091G>C | ClinGen:CA6674128 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.2361G>A (p.Lys787=) | 23426 | GRIP1 | Uncertain significance | rs886049797 | RCV000380986; | N | MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052 | 12 | 66786191 | 66786191 | C | T | 12:g.66786191C>T | ClinGen:CA10633500 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.1838+13G>T | 23426 | GRIP1 | Benign | rs7397862 | RCV000244279|RCV000351116|RCV001094088|RCV002058308; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN517202 | 12 | 66814487 | 66814487 | C | A | 12:g.66814487C>A | ClinGen:CA6674274 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.1355-10_1355-8del | 23426 | GRIP1 | Benign/Likely benign | rs148083271 | RCV000174157|RCV000334394|RCV000965245; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202 | 12 | 66839296 | 66839298 | GAAC | G | 12:g.66839296_66839298del | ClinGen:CA200851 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.724+10G>A | 23426 | GRIP1 | Benign | rs12316942 | RCV000249539|RCV000264282|RCV001094175|RCV002058309; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN517202 | 12 | 66909389 | 66909389 | C | T | 12:g.66909389C>T | ClinGen:CA6674563 | C0265233 219000 Cryptophthalmos syndrome; | |
NM_001366722.1(GRIP1):c.503-15C>A | 23426 | GRIP1 | Benign | rs11838180 | RCV000244788|RCV000273033|RCV001094212|RCV001610722; | N | MedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN517202 | 12 | 66911771 | 66911771 | G | T | 12:g.66911771G>T | ClinGen:CA6674612 | C0265233 219000 Cryptophthalmos syndrome; | |