Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000016.9:g.(?_74748068)_(75513746_?)del | 4166 | CHST6 | Pathogenic | -1 | RCV001949688; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 74748068 | 75513746 | | | -1 | - | | |
NM_021615.5(CHST6):c.*5465C>T | 4166 | CHST6 | Benign | rs541989548 | RCV000296940; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507074 | 75507074 | | | NC_000016.9:g.75507074G>A | ClinGen:CA10638360 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*5452G>C | 4166 | CHST6 | Uncertain significance | rs886052293 | RCV000354191; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507087 | 75507087 | | | NC_000016.9:g.75507087C>G | ClinGen:CA10644235 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*5445G>A | 4166 | CHST6 | Benign | rs10871313 | RCV000275809; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507094 | 75507094 | | | NC_000016.9:g.75507094C>T | ClinGen:CA10644236 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*5441C>T | 4166 | CHST6 | Benign | rs74742116 | RCV000333196; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507098 | 75507098 | | | NC_000016.9:g.75507098G>A | ClinGen:CA10644239 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*5311T>C | 4166 | CHST6 | Uncertain significance | rs2080035371 | RCV001118984; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507228 | 75507228 | | | 16:g.75507228A>G | - | | |
NM_021615.5(CHST6):c.*5286A>T | 4166 | CHST6 | Benign | rs9923834 | RCV000366953; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507253 | 75507253 | | | NC_000016.9:g.75507253T>A | ClinGen:CA10648946 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*5208C>T | 4166 | CHST6 | Uncertain significance | rs867482636 | RCV001118985; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507331 | 75507331 | | | 16:g.75507331G>A | - | | |
NM_021615.5(CHST6):c.*5197C>T | 4166 | CHST6 | Likely benign | rs554016597 | RCV001120953; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507342 | 75507342 | | | 16:g.75507342G>A | - | | |
NM_021615.5(CHST6):c.*5190T>A | 4166 | CHST6 | Uncertain significance | rs2080036320 | RCV001120954; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507349 | 75507349 | | | 16:g.75507349A>T | - | | |
NM_021615.5(CHST6):c.*5187T>G | 4166 | CHST6 | Benign | rs28710075 | RCV000274686; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507352 | 75507352 | | | NC_000016.9:g.75507352A>C | ClinGen:CA10648061 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*5183G>A | 4166 | CHST6 | Uncertain significance | rs886052294 | RCV000327485; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507356 | 75507356 | | | NC_000016.9:g.75507356C>T | ClinGen:CA10648947 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*5182C>G | 4166 | CHST6 | Uncertain significance | rs1008334355 | RCV001120955; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507357 | 75507357 | | | 16:g.75507357G>C | - | | |
NM_021615.5(CHST6):c.*5150G>A | 4166 | CHST6 | Uncertain significance | rs777374430 | RCV000384425; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507389 | 75507389 | | | NC_000016.9:g.75507389C>T | ClinGen:CA10648948 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*5149C>T | 4166 | CHST6 | Uncertain significance | rs192151525 | RCV001120956; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507390 | 75507390 | | | 16:g.75507390G>A | - | | |
NM_021615.5(CHST6):c.*5011G>A | 4166 | CHST6 | Uncertain significance | rs540453877 | RCV001120957; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507528 | 75507528 | | | 16:g.75507528C>T | - | | |
NM_021615.5(CHST6):c.*4981C>T | 4166 | CHST6 | Uncertain significance | rs532430246 | RCV001116028; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507558 | 75507558 | | | 16:g.75507558G>A | - | | |
NM_021615.5(CHST6):c.*4970T>C | 4166 | CHST6 | Uncertain significance | rs886052295 | RCV000289429; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507569 | 75507569 | | | NC_000016.9:g.75507569A>G | ClinGen:CA10638364 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4942C>T | 4166 | CHST6 | Uncertain significance | rs907270252 | RCV001116029; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507597 | 75507597 | | | 16:g.75507597G>A | - | | |
NM_021615.5(CHST6):c.*4880G>A | 4166 | CHST6 | Likely benign | rs76741848 | RCV000323367; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507659 | 75507659 | | | NC_000016.9:g.75507659C>T | ClinGen:CA10648063 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4749G>T | 4166 | CHST6 | Uncertain significance | rs184112375 | RCV001116030; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507790 | 75507790 | | | 16:g.75507790C>A | - | | |
NM_021615.5(CHST6):c.*4605C>T | 4166 | CHST6 | Benign | rs150105169 | RCV000380271; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507934 | 75507934 | | | NC_000016.9:g.75507934G>A | ClinGen:CA10648949 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4589C>T | 4166 | CHST6 | Uncertain significance | rs756919146 | RCV001116031; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507950 | 75507950 | | | 16:g.75507950G>A | - | | |
NM_021615.5(CHST6):c.*4586T>C | 4166 | CHST6 | Uncertain significance | rs535487354 | RCV000283489; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507953 | 75507953 | | | NC_000016.9:g.75507953A>G | ClinGen:CA10638365 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4574G>C | 4166 | CHST6 | Uncertain significance | rs572586138 | RCV001117480; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507965 | 75507965 | | | 16:g.75507965C>G | - | | |
NM_021615.5(CHST6):c.*4573C>T | 4166 | CHST6 | Uncertain significance | rs138466889 | RCV001117481; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507966 | 75507966 | | | 16:g.75507966G>A | - | | |
NM_021615.5(CHST6):c.*4566A>G | 4166 | CHST6 | Uncertain significance | rs950574157 | RCV001117482; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75507973 | 75507973 | | | 16:g.75507973T>C | - | | |
NM_021615.5(CHST6):c.*4497G>A | 4166 | CHST6 | Uncertain significance | rs886052296 | RCV000340763; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508042 | 75508042 | | | NC_000016.9:g.75508042C>T | ClinGen:CA10644240 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4494G>C | 4166 | CHST6 | Uncertain significance | rs2080042404 | RCV001117483; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508045 | 75508045 | | | 16:g.75508045C>G | - | | |
NM_021615.5(CHST6):c.*4487C>T | 4166 | CHST6 | Likely benign | rs182168641 | RCV000397870; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508052 | 75508052 | | | NC_000016.9:g.75508052G>A | ClinGen:CA10648067 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4470C>T | 4166 | CHST6 | Uncertain significance | rs886052297 | RCV000282309; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508069 | 75508069 | | | NC_000016.9:g.75508069G>A | ClinGen:CA10644248 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4460T>G | 4166 | CHST6 | Uncertain significance | rs2080042971 | RCV001117484; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508079 | 75508079 | | | 16:g.75508079A>C | - | | |
NM_021615.5(CHST6):c.*4444A>G | 4166 | CHST6 | Uncertain significance | rs1048250703 | RCV001119082; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508095 | 75508095 | | | 16:g.75508095T>C | - | | |
NM_021615.5(CHST6):c.*4373dup | 4166 | CHST6 | Uncertain significance | rs775614448 | RCV000334959; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508165 | 75508166 | | | NC_000016.9:g.75508166dupA | ClinGen:CA10648072 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4366T>C | 4166 | CHST6 | Benign | rs37606 | RCV000397873; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508173 | 75508173 | | | NC_000016.9:g.75508173A>G | ClinGen:CA10648073 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4325A>G | 4166 | CHST6 | Uncertain significance | rs1454981481 | RCV001119083; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508214 | 75508214 | | | 16:g.75508214T>C | - | | |
NM_021615.5(CHST6):c.*4305T>C | 4166 | CHST6 | Benign | rs11641249 | RCV000314329; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508234 | 75508234 | | | NC_000016.9:g.75508234A>G | ClinGen:CA10644249 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4291T>C | 4166 | CHST6 | Uncertain significance | rs72789420 | RCV001119084; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508248 | 75508248 | | | 16:g.75508248A>G | - | | |
NM_021615.5(CHST6):c.*4290A>C | 4166 | CHST6 | Uncertain significance | rs886052298 | RCV000371356; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508249 | 75508249 | | | NC_000016.9:g.75508249T>G | ClinGen:CA10638366 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4238A>G | 4166 | CHST6 | Uncertain significance | rs570273277 | RCV001119085; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508301 | 75508301 | | | 16:g.75508301T>C | - | | |
NM_021615.5(CHST6):c.*4155C>T | 4166 | CHST6 | Benign | rs114790233 | RCV000399352; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508384 | 75508384 | | | NC_000016.9:g.75508384G>A | ClinGen:CA10648075 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4086G>A | 4166 | CHST6 | Benign | rs12918234 | RCV000313212; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508453 | 75508453 | | | NC_000016.9:g.75508453C>T | ClinGen:CA10648950 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4085C>T | 4166 | CHST6 | Uncertain significance | rs144466579 | RCV000365513; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508454 | 75508454 | | | NC_000016.9:g.75508454G>A | ClinGen:CA10648952 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*4003T>C | 4166 | CHST6 | Uncertain significance | rs942544702 | RCV001121046; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508536 | 75508536 | | | 16:g.75508536A>G | - | | |
NM_021615.5(CHST6):c.*3992T>C | 4166 | CHST6 | Benign | rs8063344 | RCV000273216; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508547 | 75508547 | | | NC_000016.9:g.75508547A>G | ClinGen:CA10648953 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3983G>A | 4166 | CHST6 | Uncertain significance | rs1051764829 | RCV001121047; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508556 | 75508556 | | | 16:g.75508556C>T | - | | |
NM_021615.5(CHST6):c.*3947C>T | 4166 | CHST6 | Uncertain significance | rs564522593 | RCV001121048; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508592 | 75508592 | | | 16:g.75508592G>A | - | | |
NM_021615.5(CHST6):c.*3917G>A | 4166 | CHST6 | Likely benign | rs180746384 | RCV001121049; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508622 | 75508622 | | | 16:g.75508622C>T | - | | |
NM_021615.5(CHST6):c.*3883T>G | 4166 | CHST6 | Likely benign | rs138114811 | RCV001116140; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508656 | 75508656 | | | 16:g.75508656A>C | - | | |
NM_021615.5(CHST6):c.*3828A>T | 4166 | CHST6 | Benign | rs56769615 | RCV000325969; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508711 | 75508711 | | | NC_000016.9:g.75508711T>A | ClinGen:CA10648954 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3819G>C | 4166 | CHST6 | Benign | rs8063068 | RCV000363334; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508720 | 75508720 | | | NC_000016.9:g.75508720C>G | ClinGen:CA10638370 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3815G>A | 4166 | CHST6 | Uncertain significance | rs563939196 | RCV000266321; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508724 | 75508724 | | | NC_000016.9:g.75508724C>T | ClinGen:CA10648076 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3814C>G | 4166 | CHST6 | Uncertain significance | rs552475714 | RCV001116141; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508725 | 75508725 | | | 16:g.75508725G>C | - | | |
NM_021615.5(CHST6):c.*3811A>C | 4166 | CHST6 | Uncertain significance | rs776294697 | RCV000323879; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508728 | 75508728 | | | NC_000016.9:g.75508728T>G | ClinGen:CA10648955 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3750C>A | 4166 | CHST6 | Benign | rs142693604 | RCV000376119; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508789 | 75508789 | | | NC_000016.9:g.75508789G>T | ClinGen:CA10638373 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3742C>T | 4166 | CHST6 | Benign | rs56116092 | RCV000284052; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508797 | 75508797 | | | NC_000016.9:g.75508797G>A | ClinGen:CA10648956 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3679T>C | 4166 | CHST6 | Uncertain significance | rs886052299 | RCV000318125; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508860 | 75508860 | | | NC_000016.9:g.75508860A>G | ClinGen:CA10644252 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3656C>A | 4166 | CHST6 | Uncertain significance | rs2080051726 | RCV001117575; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508883 | 75508883 | | | 16:g.75508883G>T | - | | |
NM_021615.5(CHST6):c.*3643_*3644del | 4166 | CHST6 | Uncertain significance | rs563605488 | RCV000375076; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508895 | 75508896 | | | NC_000016.9:g.75508896_75508897del | ClinGen:CA10648077 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3621A>G | 4166 | CHST6 | Benign | rs139900788 | RCV000278920; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508918 | 75508918 | | | 16:g.75508918T>C | ClinGen:CA10638374 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3608A>C | 4166 | CHST6 | Uncertain significance | rs560765910 | RCV001117576; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508931 | 75508931 | | | 16:g.75508931T>G | - | | |
NM_021615.5(CHST6):c.*3602C>T | 4166 | CHST6 | Uncertain significance | rs576234551 | RCV001117577; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508937 | 75508937 | | | 16:g.75508937G>A | - | | |
NM_021615.5(CHST6):c.*3547C>T | 4166 | CHST6 | Uncertain significance | rs540649676 | RCV001117578; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75508992 | 75508992 | | | 16:g.75508992G>A | - | | |
NM_021615.5(CHST6):c.*3516T>C | 4166 | CHST6 | Uncertain significance | rs886052300 | RCV000336273; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509023 | 75509023 | | | 16:g.75509023A>G | ClinGen:CA10644254 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3490T>C | 4166 | CHST6 | Uncertain significance | rs886052301 | RCV000405978; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509049 | 75509049 | | | 16:g.75509049A>G | ClinGen:CA10644264 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3465T>C | 4166 | CHST6 | Benign | rs76471046 | RCV001119178; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509074 | 75509074 | | | 16:g.75509074A>G | - | | |
NM_021615.5(CHST6):c.*3441A>T | 4166 | CHST6 | Uncertain significance | rs529530566 | RCV000296385; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509098 | 75509098 | | | 16:g.75509098T>A | ClinGen:CA10638376 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3364C>A | 4166 | CHST6 | Likely benign | rs189970730 | RCV000349028; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509175 | 75509175 | | | NC_000016.9:g.75509175G>T | ClinGen:CA10648958 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3297C>T | 4166 | CHST6 | Uncertain significance | rs891021575 | RCV001119179; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509242 | 75509242 | | | 16:g.75509242G>A | - | | |
NM_021615.5(CHST6):c.*3240A>G | 4166 | CHST6 | Uncertain significance | rs1022400619 | RCV001119180; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509299 | 75509299 | | | 16:g.75509299T>C | - | | |
NM_021615.5(CHST6):c.*3223CT[1] | 4166 | CHST6 | Benign | rs5817947 | RCV000396947; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509313 | 75509314 | | | NC_000016.9:g.75509313AG[1] | ClinGen:CA10648960 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3082G>A | 4166 | CHST6 | Uncertain significance | rs150839584 | RCV000309162; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509457 | 75509457 | | | NC_000016.9:g.75509457C>T | ClinGen:CA10644266 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*3078G>A | 4166 | CHST6 | Uncertain significance | rs375112875 | RCV000366320; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509461 | 75509461 | | | NC_000016.9:g.75509461C>T | ClinGen:CA10638377 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2962G>A | 4166 | CHST6 | Uncertain significance | rs557307672 | RCV001119181; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509577 | 75509577 | | | 16:g.75509577C>T | - | | |
NM_021615.5(CHST6):c.*2956G>A | 4166 | CHST6 | Benign | rs11860278 | RCV000399167; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509583 | 75509583 | | | NC_000016.9:g.75509583C>T | ClinGen:CA10638379 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2955C>T | 4166 | CHST6 | Likely benign | rs76087215 | RCV000304329; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509584 | 75509584 | | | NC_000016.9:g.75509584G>A | ClinGen:CA10648078 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2947G>T | 4166 | CHST6 | Likely benign | rs112154704 | RCV000361407; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509592 | 75509592 | | | NC_000016.9:g.75509592C>A | ClinGen:CA10648079 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2902dup | 4166 | CHST6 | Uncertain significance | rs886052302 | RCV000264274; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509636 | 75509637 | | | NC_000016.9:g.75509637dupG | ClinGen:CA10644267 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2836T>C | 4166 | CHST6 | Uncertain significance | rs886052303 | RCV000302994; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509703 | 75509703 | | | NC_000016.9:g.75509703A>G | ClinGen:CA10638380 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2833T>G | 4166 | CHST6 | Benign | rs149981556 | RCV001121173; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509706 | 75509706 | | | 16:g.75509706A>C | - | | |
NM_021615.5(CHST6):c.*2770T>G | 4166 | CHST6 | Uncertain significance | rs1597468602 | RCV001121174; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509769 | 75509769 | | | 16:g.75509769A>C | - | | |
NM_021615.5(CHST6):c.*2652C>T | 4166 | CHST6 | Uncertain significance | rs548748758 | RCV000355758; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509887 | 75509887 | | | NC_000016.9:g.75509887G>A | ClinGen:CA10644268 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2635G>A | 4166 | CHST6 | Uncertain significance | rs147675835 | RCV001121175; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75509904 | 75509904 | | | 16:g.75509904C>T | - | | |
NM_021615.5(CHST6):c.*2503G>A | 4166 | CHST6 | Uncertain significance | rs534652248 | RCV000263310; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510036 | 75510036 | | | NC_000016.9:g.75510036C>T | ClinGen:CA10638381 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2450C>G | 4166 | CHST6 | Uncertain significance | rs769668563 | RCV001116252; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510089 | 75510089 | | | 16:g.75510089G>C | - | | |
NM_021615.5(CHST6):c.*2437C>T | 4166 | CHST6 | Uncertain significance | rs886052304 | RCV000316059; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510102 | 75510102 | | | NC_000016.9:g.75510102G>A | ClinGen:CA10648080 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2433A>C | 4166 | CHST6 | Uncertain significance | rs886052305 | RCV000373049; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510106 | 75510106 | | | NC_000016.9:g.75510106T>G | ClinGen:CA10638385 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2426T>C | 4166 | CHST6 | Likely benign | rs142614349 | RCV001116253; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510113 | 75510113 | | | 16:g.75510113A>G | - | | |
NM_021615.5(CHST6):c.*2417C>T | 4166 | CHST6 | Likely benign | rs188632926 | RCV000275736; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510122 | 75510122 | | | NC_000016.9:g.75510122G>A | ClinGen:CA10638386 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2327C>T | 4166 | CHST6 | Benign | rs185053 | RCV000333127; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510212 | 75510212 | | | NC_000016.9:g.75510212G>A | ClinGen:CA10648083 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2288T>G | 4166 | CHST6 | Benign | rs147960476 | RCV000385397; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510251 | 75510251 | | | NC_000016.9:g.75510251A>C | ClinGen:CA10648962 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2210C>G | 4166 | CHST6 | Likely benign | rs111315694 | RCV000293439; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510329 | 75510329 | | | NC_000016.9:g.75510329G>C | ClinGen:CA10644271 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2131C>T | 4166 | CHST6 | Uncertain significance | rs192587632 | RCV001117698; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510408 | 75510408 | | | 16:g.75510408G>A | - | | |
NM_021615.5(CHST6):c.*2080del | 4166 | CHST6 | Uncertain significance | rs36092135 | RCV000346062; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510459 | 75510459 | | | NC_000016.9:g.75510483del | ClinGen:CA10648085 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2055del | 4166 | CHST6 | Uncertain significance | rs886052307 | RCV000384326; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510484 | 75510484 | | | NC_000016.9:g.75510484del | ClinGen:CA10644282 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*2050G>A | 4166 | CHST6 | Uncertain significance | rs1037087194 | RCV001117699; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510489 | 75510489 | | | 16:g.75510489C>T | - | | |
NM_021615.5(CHST6):c.*2024C>G | 4166 | CHST6 | Benign | rs7193828 | RCV000287771; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510515 | 75510515 | | | NC_000016.9:g.75510515G>C | ClinGen:CA10644283 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1967C>T | 4166 | CHST6 | Benign | rs42967 | RCV000345069; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510572 | 75510572 | | | NC_000016.9:g.75510572G>A | ClinGen:CA10638388 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1919C>T | 4166 | CHST6 | Benign | rs7194035 | RCV000395234; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510620 | 75510620 | | | NC_000016.9:g.75510620G>A | ClinGen:CA10648086 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1914A>G | 4166 | CHST6 | Likely benign | rs143764747 | RCV000305948; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510625 | 75510625 | | | NC_000016.9:g.75510625T>C | ClinGen:CA10638390 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1892del | 4166 | CHST6 | Benign | rs35225560 | RCV000339678; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510647 | 75510647 | | | 16:g.75510647_75510647del | ClinGen:CA10638392 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1836G>A | 4166 | CHST6 | Uncertain significance | rs1441816484 | RCV001119264; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510703 | 75510703 | | | 16:g.75510703C>T | - | | |
NM_021615.5(CHST6):c.*1811G>A | 4166 | CHST6 | Uncertain significance | rs577093724 | RCV000395231; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510728 | 75510728 | | | NC_000016.9:g.75510728C>T | ClinGen:CA10638396 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1810C>T | 4166 | CHST6 | Uncertain significance | rs111307793 | RCV000299816; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510729 | 75510729 | | | NC_000016.9:g.75510729G>A | ClinGen:CA10648963 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1758A>T | 4166 | CHST6 | Uncertain significance | rs571537815 | RCV000356973; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510781 | 75510781 | | | NC_000016.9:g.75510781T>A | ClinGen:CA10648087 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1652G>A | 4166 | CHST6 | Uncertain significance | rs1178270623 | RCV001119265; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510887 | 75510887 | | | 16:g.75510887C>T | - | | |
NM_021615.5(CHST6):c.*1597T>G | 4166 | CHST6 | Uncertain significance | rs866541400 | RCV000259878; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510942 | 75510942 | | | NC_000016.9:g.75510942A>C | ClinGen:CA10648971 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1585G>T | 4166 | CHST6 | Uncertain significance | rs886052308 | RCV000298708; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510954 | 75510954 | | | NC_000016.9:g.75510954C>A | ClinGen:CA10648972 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1566T>G | 4166 | CHST6 | Benign | rs4888432 | RCV000370154; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75510973 | 75510973 | | | NC_000016.9:g.75510973A>C | ClinGen:CA10638397 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1526C>T | 4166 | CHST6 | Uncertain significance | rs148219139 | RCV000277843; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511013 | 75511013 | | | NC_000016.9:g.75511013G>A | ClinGen:CA10644288 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1474C>G | 4166 | CHST6 | Uncertain significance | rs886052309 | RCV000330534; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511065 | 75511065 | | | NC_000016.9:g.75511065G>C | ClinGen:CA10638398 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1426C>A | 4166 | CHST6 | Benign | rs11861434 | RCV000387301; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511113 | 75511113 | | | NC_000016.9:g.75511113G>T | ClinGen:CA10644289 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1407C>G | 4166 | CHST6 | Uncertain significance | rs117273298 | RCV000272133; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511132 | 75511132 | | | NC_000016.9:g.75511132G>C | ClinGen:CA10648088 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1377G>A | 4166 | CHST6 | Likely benign | rs140231054 | RCV000329559; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511162 | 75511162 | | | NC_000016.9:g.75511162C>T | ClinGen:CA10648973 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1375G>A | 4166 | CHST6 | Benign | rs116020927 | RCV000381709; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511164 | 75511164 | | | NC_000016.9:g.75511164C>T | ClinGen:CA10648976 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1374C>T | 4166 | CHST6 | Uncertain significance | rs564966292 | RCV000289703; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511165 | 75511165 | | | NC_000016.9:g.75511165G>A | ClinGen:CA10638399 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1324C>T | 4166 | CHST6 | Uncertain significance | rs886052310 | RCV000342463; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511215 | 75511215 | | | NC_000016.9:g.75511215G>A | ClinGen:CA10648089 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1316A>C | 4166 | CHST6 | Uncertain significance | rs773150182 | RCV000376071; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511223 | 75511223 | | | NC_000016.9:g.75511223T>G | ClinGen:CA10648978 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1295T>C | 4166 | CHST6 | Uncertain significance | rs886052311 | RCV000283970; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511244 | 75511244 | | | NC_000016.9:g.75511244A>G | ClinGen:CA10648093 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1118A>G | 4166 | CHST6 | Likely benign | rs191429909 | RCV000336744; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511421 | 75511421 | | | 16:g.75511421T>C | ClinGen:CA10648098 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1058G>T | 4166 | CHST6 | Uncertain significance | rs137868909 | RCV000397840; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511481 | 75511481 | | | 16:g.75511481C>A | ClinGen:CA10644291 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1058G>A | 4166 | CHST6 | Benign | rs137868909 | RCV000301338; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511481 | 75511481 | | | 16:g.75511481C>T | ClinGen:CA10648979 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1047G>T | 4166 | CHST6 | Benign | rs77687996 | RCV000337539; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511492 | 75511492 | | | 16:g.75511492C>A | ClinGen:CA10644295 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*1031A>G | 4166 | CHST6 | Uncertain significance | rs886052312 | RCV000397843; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511508 | 75511508 | | | 16:g.75511508T>C | ClinGen:CA10648980 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*991A>G | 4166 | CHST6 | Benign | rs142368532 | RCV001116350; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511548 | 75511548 | | | 16:g.75511548T>C | - | | |
NM_021615.5(CHST6):c.*984G>C | 4166 | CHST6 | Uncertain significance | rs886052313 | RCV000311729; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511555 | 75511555 | | | NC_000016.9:g.75511555C>G | ClinGen:CA10648099 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*972C>A | 4166 | CHST6 | Uncertain significance | rs561639379 | RCV000371109; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511567 | 75511567 | | | NC_000016.9:g.75511567G>T | ClinGen:CA10644296 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*955C>T | 4166 | CHST6 | Benign | rs116535181 | RCV000390266; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511584 | 75511584 | | | NC_000016.9:g.75511584G>A | ClinGen:CA10648983 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*824G>A | 4166 | CHST6 | Uncertain significance | rs540252682 | RCV001117799; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511715 | 75511715 | | | 16:g.75511715C>T | - | | |
NM_021615.5(CHST6):c.*818G>A | 4166 | CHST6 | Uncertain significance | rs999743468 | RCV001117800; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511721 | 75511721 | | | 16:g.75511721C>T | - | | |
NM_021615.5(CHST6):c.*794A>C | 4166 | CHST6 | Uncertain significance | rs886052314 | RCV000308223; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511745 | 75511745 | | | NC_000016.9:g.75511745T>G | ClinGen:CA10648101 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*751C>T | 4166 | CHST6 | Uncertain significance | rs780235353 | RCV000362717; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511788 | 75511788 | | | NC_000016.9:g.75511788G>A | ClinGen:CA10638400 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*712G>A | 4166 | CHST6 | Uncertain significance | rs565082451 | RCV000272815; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511827 | 75511827 | | | NC_000016.9:g.75511827C>T | ClinGen:CA10648103 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*687C>A | 4166 | CHST6 | Uncertain significance | rs886052315 | RCV000327910; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511852 | 75511852 | | | NC_000016.9:g.75511852G>T | ClinGen:CA10644300 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*606G>A | 4166 | CHST6 | Benign | rs117741124 | RCV000359353; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511933 | 75511933 | | | NC_000016.9:g.75511933C>T | ClinGen:CA10648984 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*588T>G | 4166 | CHST6 | Uncertain significance | rs886052316 | RCV000264350; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75511951 | 75511951 | | | NC_000016.9:g.75511951A>C | ClinGen:CA10644301 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*522G>C | 4166 | CHST6 | Uncertain significance | rs770900838 | RCV000324151; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512017 | 75512017 | | | NC_000016.9:g.75512017C>G | ClinGen:CA10648104 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*488_*490del | 4166 | CHST6 | Uncertain significance | rs886052317 | RCV000378681; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512049 | 75512051 | | | NC_000016.9:g.75512051_75512053del | ClinGen:CA10648105 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*472G>C | 4166 | CHST6 | Uncertain significance | rs886052318 | RCV000279584; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512067 | 75512067 | | | NC_000016.9:g.75512067C>G | ClinGen:CA10648985 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*435C>T | 4166 | CHST6 | Likely benign | rs375230497 | RCV001119365; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512104 | 75512104 | | | 16:g.75512104G>A | - | | |
NM_021615.5(CHST6):c.*377G>A | 4166 | CHST6 | Benign | rs138647317 | RCV000316131; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512162 | 75512162 | | | NC_000016.9:g.75512162C>T | ClinGen:CA10644302 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*242_*243insG | 4166 | CHST6 | Benign | rs11436257 | RCV000375415|RCV001594952; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969|MedGen:CN517202 | 16 | 75512296 | 75512297 | | | NC_000016.9:g.75512296_75512297insC | ClinGen:CA10638408 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*242T>C | 4166 | CHST6 | Uncertain significance | rs886052319 | RCV000280938; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512297 | 75512297 | | | NC_000016.9:g.75512297A>G | ClinGen:CA10648990 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*241C>T | 4166 | CHST6 | Uncertain significance | rs886052320 | RCV000349917; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512298 | 75512298 | | | NC_000016.9:g.75512298G>A | ClinGen:CA10648993 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*164G>T | 4166 | CHST6 | Uncertain significance | rs901651645 | RCV001121366; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512375 | 75512375 | | | 16:g.75512375C>A | - | | |
NM_021615.5(CHST6):c.*139A>G | 4166 | CHST6 | Uncertain significance | rs149297341 | RCV000403175; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512400 | 75512400 | | | NC_000016.9:g.75512400T>C | ClinGen:CA10644304 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*106G>T | 4166 | CHST6 | Uncertain significance | rs958743404 | RCV001121367; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512433 | 75512433 | | | 16:g.75512433C>A | - | | |
NM_021615.5(CHST6):c.*68G>T | 4166 | CHST6 | Uncertain significance | rs968538456 | RCV001121368; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512471 | 75512471 | | | 16:g.75512471C>A | - | | |
NM_021615.5(CHST6):c.*33G>C | 4166 | CHST6 | Uncertain significance | rs376468061 | RCV000295708; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512506 | 75512506 | | | NC_000016.9:g.75512506C>G | ClinGen:CA8175256 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.*13T>C | 4166 | CHST6 | Uncertain significance | rs750212631 | RCV001121369; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512526 | 75512526 | | | 16:g.75512526A>G | - | | |
NM_021615.5(CHST6):c.1181G>A (p.Arg394Gln) | 4166 | CHST6 | Uncertain significance | rs139042144 | RCV000350676; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512546 | 75512546 | | | NC_000016.9:g.75512546C>T | ClinGen:CA8175268 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.1167C>T (p.Thr389=) | 4166 | CHST6 | Likely benign | -1 | RCV001456521; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512560 | 75512560 | | | 75512560 | - | | |
NM_021615.5(CHST6):c.1132C>T (p.Arg378Ter) | 4166 | CHST6 | Uncertain significance | -1 | RCV002615198; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512595 | 75512595 | | | NC_000016.9:g.75512595G>A | - | | |
NM_021615.5(CHST6):c.1124T>G (p.Val375Gly) | 4166 | CHST6 | Uncertain significance | rs142097284 | RCV001116450; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512603 | 75512603 | | | 16:g.75512603A>C | - | | |
NM_021615.5(CHST6):c.1113C>G (p.Ala371=) | 4166 | CHST6 | Uncertain significance | rs763307252 | RCV001116451; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512614 | 75512614 | | | 16:g.75512614G>C | - | | |
NM_021615.5(CHST6):c.1101G>A (p.Gln367=) | 4166 | CHST6 | Uncertain significance | rs1182017136 | RCV001116452; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512626 | 75512626 | | | 16:g.75512626C>T | - | | |
NM_021615.5(CHST6):c.1099C>G (p.Gln367Glu) | 4166 | CHST6 | Uncertain significance | -1 | RCV001993850; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512628 | 75512628 | | | 75512628 | - | | |
NM_021615.5(CHST6):c.1096G>A (p.Glu366Lys) | 4166 | CHST6 | Uncertain significance | rs369592422 | RCV001207736; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512631 | 75512631 | | | 16:g.75512631C>T | - | | |
NM_021615.5(CHST6):c.1082T>C (p.Val361Ala) | 4166 | CHST6 | Uncertain significance | rs150880663 | RCV000397063; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512645 | 75512645 | | | NC_000016.9:g.75512645A>G | ClinGen:CA8175297 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.1052_1059dup (p.Gln354fs) | 4166 | CHST6 | Uncertain significance | -1 | RCV002289063; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512667 | 75512668 | | | 75512667 | - | | |
NM_021615.5(CHST6):c.1043T>G (p.Leu348Arg) | 4166 | CHST6 | Uncertain significance | rs189849720 | RCV001348901; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512684 | 75512684 | | | 75512684 | - | | |
NM_021615.5(CHST6):c.1033G>A (p.Val345Met) | 4166 | CHST6 | Uncertain significance | -1 | RCV002938239; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512694 | 75512694 | | | NC_000016.9:g.75512694C>T | - | | |
NM_021615.5(CHST6):c.1030C>T (p.Arg344Cys) | 4166 | CHST6 | Uncertain significance | rs745660697 | RCV000306656; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512697 | 75512697 | | | NC_000016.9:g.75512697G>A | ClinGen:CA8175322 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.1006G>A (p.Ala336Thr) | 4166 | CHST6 | Benign | -1 | RCV002096646; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512721 | 75512721 | | | 75512721 | - | | |
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) | 4166 | CHST6 | Conflicting interpretations of pathogenicity | -1 | RCV001731225; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512730 | 75512730 | | | 75512730 | - | | |
NM_021615.5(CHST6):c.993G>T (p.Gln331His) | 4166 | CHST6 | Conflicting interpretations of pathogenicity | rs140699573 | RCV000177326|RCV000885002; | N | MedGen:CN169374|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512734 | 75512734 | | | 16:g.75512734C>A | ClinGen:CA243479 | CN169374 not specified; | |
NM_021615.5(CHST6):c.992A>G (p.Gln331Arg) | 4166 | CHST6 | Uncertain significance | -1 | RCV003057643; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512735 | 75512735 | | | NC_000016.9:g.75512735T>C | - | | |
NM_021615.5(CHST6):c.987C>T (p.Val329=) | 4166 | CHST6 | Uncertain significance | rs369751938 | RCV000365962; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512740 | 75512740 | | | NC_000016.9:g.75512740G>A | ClinGen:CA8175333 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.976G>T (p.Ala326Ser) | 4166 | CHST6 | Uncertain significance | rs201349198 | RCV000365634|RCV001855182; | N | MedGen:CN517202|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512751 | 75512751 | | | 16:g.75512751C>A | ClinGen:CA8175337 | CN169374 not specified; | |
NM_021615.5(CHST6):c.949G>C (p.Glu317Gln) | 4166 | CHST6 | Uncertain significance | -1 | RCV002639322; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512778 | 75512778 | | | NC_000016.9:g.75512778C>G | - | | |
NM_021615.5(CHST6):c.944G>A (p.Arg315His) | 4166 | CHST6 | Uncertain significance | -1 | RCV001371555; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512783 | 75512783 | | | 75512783 | - | | |
NM_021615.5(CHST6):c.918C>T (p.Ile306=) | 4166 | CHST6 | Conflicting interpretations of pathogenicity | rs576445739 | RCV000397048; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512809 | 75512809 | | | NC_000016.9:g.75512809G>A | ClinGen:CA8175352 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.897C>G (p.Leu299=) | 4166 | CHST6 | Likely benign | -1 | RCV001460860; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512830 | 75512830 | | | 75512830 | - | | |
NM_021615.5(CHST6):c.892C>T (p.Gln298Ter) | 4166 | CHST6 | Pathogenic | rs886052321 | RCV000303034; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512835 | 75512835 | | | NC_000016.9:g.75512835G>A | ClinGen:CA10648995 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.857C>T (p.Ala286Val) | 4166 | CHST6 | Uncertain significance | rs751949248 | RCV000361725; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512870 | 75512870 | | | NC_000016.9:g.75512870G>A | ClinGen:CA8175369 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter) | 4166 | CHST6 | Pathogenic/Likely pathogenic | -1 | RCV001731224; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512879 | 75512880 | | | 75512879 | - | | |
NM_021615.5(CHST6):c.828G>A (p.Leu276=) | 4166 | CHST6 | Benign | rs140327212 | RCV000881933|RCV001117909; | N | MedGen:CN517202|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512899 | 75512899 | | | 16:g.75512899C>T | - | | |
NM_021615.5(CHST6):c.827T>C (p.Leu276Pro) | 4166 | CHST6 | Pathogenic | rs121917824 | RCV000005383; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512900 | 75512900 | | | 16:g.75512900A>G | ClinGen:CA250522,UniProtKB:Q9GZX3#VAR_021468,OMIM:605294.0008 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.799C>T (p.Arg267Cys) | 4166 | CHST6 | Uncertain significance | -1 | RCV002009424; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512928 | 75512928 | | | 75512928 | - | | |
NM_021615.5(CHST6):c.789T>C (p.Phe263=) | 4166 | CHST6 | Likely benign | -1 | RCV001398804; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512938 | 75512938 | | | 75512938 | - | | |
NM_021615.5(CHST6):c.768C>T (p.Ala256=) | 4166 | CHST6 | Benign | rs146465655 | RCV000958719; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512959 | 75512959 | | | 16:g.75512959G>A | - | | |
NM_021615.5(CHST6):c.729C>T (p.Arg243=) | 4166 | CHST6 | Likely benign | rs916401556 | RCV001309627; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75512998 | 75512998 | | | 75512998 | - | | |
NM_021615.5(CHST6):c.718C>A (p.Arg240Ser) | 4166 | CHST6 | Uncertain significance | rs547928453 | RCV000267043; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513009 | 75513009 | | | NC_000016.9:g.75513009G>T | ClinGen:CA8175415 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.713G>A (p.Gly238Asp) | 4166 | CHST6 | Uncertain significance | -1 | RCV003007309; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513014 | 75513014 | | | NC_000016.9:g.75513014C>T | - | | |
NM_021615.5(CHST6):c.708C>T (p.Asp236=) | 4166 | CHST6 | Uncertain significance | rs779128434 | RCV000317606; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513019 | 75513019 | | | NC_000016.9:g.75513019G>A | ClinGen:CA8175420 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.666C>T (p.Asn222=) | 4166 | CHST6 | Benign | rs148529501 | RCV000353686; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513061 | 75513061 | | | NC_000016.9:g.75513061G>A | ClinGen:CA8175433 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.656C>T (p.Ala219Val) | 4166 | CHST6 | Conflicting interpretations of pathogenicity | rs201743866 | RCV001117910|RCV002558162; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969|MeSH:D030342,MedGen:C0950123 | 16 | 75513071 | 75513071 | | | 16:g.75513071G>A | - | | |
NM_021615.5(CHST6):c.625C>T (p.Arg209Cys) | 4166 | CHST6 | Uncertain significance | -1 | RCV003078963; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513102 | 75513102 | | | NC_000016.9:g.75513102G>A | - | | |
NM_021615.5(CHST6):c.621G>A (p.Val207=) | 4166 | CHST6 | Likely benign | rs775009315 | RCV000936037|RCV001422515; | N | MedGen:CN517202|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513106 | 75513106 | | | 16:g.75513106C>T | - | | |
NM_021615.5(CHST6):c.601_621del (p.Val201_Val207del) | 4166 | CHST6 | Pathogenic | -1 | RCV003030016; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513106 | 75513126 | | | NC_000016.9:g.75513108_75513128del | - | | |
NM_021615.5(CHST6):c.609C>A (p.Asp203Glu) | 4166 | CHST6 | Pathogenic | rs28937878 | RCV000005376; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513118 | 75513118 | | | 16:g.75513118G>T | UniProtKB:Q9GZX3#VAR_021453,OMIM:605294.0002,ClinGen:CA250519 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) | 4166 | CHST6 | Pathogenic | rs28937879 | RCV000005380|RCV000005379|RCV001091757; | N | MedGen:C1691013|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969|MedGen:CN517202 | 16 | 75513128 | 75513128 | | | 16:g.75513128A>C | ClinGen:CA117249,UniProtKB:Q9GZX3#VAR_021451,OMIM:605294.0005 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.585A>G (p.Leu195=) | 4166 | CHST6 | Likely benign | -1 | RCV001445734; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513142 | 75513142 | | | 75513142 | - | | |
NM_021615.5(CHST6):c.573C>G (p.Pro191=) | 4166 | CHST6 | Conflicting interpretations of pathogenicity | rs1044185449 | RCV001119457; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513154 | 75513154 | | | 16:g.75513154G>C | - | | |
NM_021615.5(CHST6):c.539A>G (p.Asn180Ser) | 4166 | CHST6 | Uncertain significance | rs773164615 | RCV001119458; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513188 | 75513188 | | | 16:g.75513188T>C | - | | |
NM_021615.5(CHST6):c.532T>G (p.Phe178Val) | 4166 | CHST6 | Uncertain significance | -1 | RCV001922179; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513195 | 75513195 | | | 75513195 | - | | |
NM_021615.5(CHST6):c.521A>G (p.Lys174Arg) | 4166 | CHST6 | Pathogenic | rs28937877 | RCV000005375; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513206 | 75513206 | | | 16:g.75513206T>C | ClinGen:CA250518,UniProtKB:Q9GZX3#VAR_021448,OMIM:605294.0001 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.518T>C (p.Leu173Pro) | 4166 | CHST6 | Uncertain significance | -1 | RCV001367958; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513209 | 75513209 | | | 75513209 | - | | |
NM_021615.5(CHST6):c.500C>T (p.Ser167Phe) | 4166 | CHST6 | Uncertain significance | rs756399261 | RCV001298368; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513227 | 75513227 | | | 75513227 | - | | |
NM_021615.5(CHST6):c.496C>G (p.Arg166Gly) | 4166 | CHST6 | Uncertain significance | rs141965945 | RCV001119459; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513231 | 75513231 | | | 16:g.75513231G>C | - | | |
NM_021615.5(CHST6):c.494_495delinsCT (p.Cys165Ser) | 4166 | CHST6 | Conflicting interpretations of pathogenicity | rs2080109094 | RCV001331192|RCV002225826; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969|MedGen:CN517202 | 16 | 75513232 | 75513233 | | | 75513232 | - | | |
NM_021615.5(CHST6):c.485G>A (p.Arg162Gln) | 4166 | CHST6 | Uncertain significance | -1 | RCV003078694; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513242 | 75513242 | | | NC_000016.9:g.75513242C>T | - | | |
NM_021615.5(CHST6):c.484C>G (p.Arg162Gly) | 4166 | CHST6 | Benign | rs117435647 | RCV000318543|RCV001636903; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969|MedGen:CN517202 | 16 | 75513243 | 75513243 | | | NC_000016.9:g.75513243G>C | ClinGen:CA8175487,UniProtKB:Q9GZX3#VAR_021446 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.484C>A (p.Arg162=) | 4166 | CHST6 | Uncertain significance | rs117435647 | RCV001119460; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513243 | 75513243 | | | 16:g.75513243G>T | - | | |
NM_021615.5(CHST6):c.465G>A (p.Arg155=) | 4166 | CHST6 | Benign | rs141905571 | RCV000387102; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513262 | 75513262 | | | NC_000016.9:g.75513262C>T | ClinGen:CA8175491 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.464G>T (p.Arg155Leu) | 4166 | CHST6 | Uncertain significance | -1 | RCV002915071; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513263 | 75513263 | | | NC_000016.9:g.75513263C>A | - | | |
NM_021615.5(CHST6):c.400G>A (p.Ala134Thr) | 4166 | CHST6 | Uncertain significance | -1 | RCV001894403; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513327 | 75513327 | | | 75513327 | - | | |
NM_021615.5(CHST6):c.392C>T (p.Ser131Leu) | 4166 | CHST6 | Uncertain significance | rs375059043 | RCV000778477; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513335 | 75513335 | | | NC_000016.9:g.75513335G>A | - | | |
NM_021615.5(CHST6):c.355G>C (p.Asp119His) | 4166 | CHST6 | Uncertain significance | -1 | RCV001963438; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513372 | 75513372 | | | 75513372 | - | | |
NM_021615.5(CHST6):c.329A>G (p.Tyr110Cys) | 4166 | CHST6 | Pathogenic | rs72547544 | RCV000005382; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513398 | 75513398 | | | 16:g.75513398T>C | ClinGen:CA250521,UniProtKB:Q9GZX3#VAR_021439,OMIM:605294.0007 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.323A>T (p.Asp108Val) | 4166 | CHST6 | Uncertain significance | -1 | RCV002866159; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513404 | 75513404 | | | NC_000016.9:g.75513404T>A | - | | |
NM_021615.5(CHST6):c.307G>A (p.Asp103Asn) | 4166 | CHST6 | Uncertain significance | -1 | RCV001942776; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513420 | 75513420 | | | 75513420 | - | | |
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly) | 4166 | CHST6 | Pathogenic | rs121917822 | RCV000005381; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513423 | 75513423 | | | 16:g.75513423A>C | ClinGen:CA250520,UniProtKB:Q9GZX3#VAR_021435,OMIM:605294.0006 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.301C>T (p.Leu101=) | 4166 | CHST6 | Conflicting interpretations of pathogenicity | rs373160858 | RCV001119461; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513426 | 75513426 | | | 16:g.75513426G>A | - | | |
NM_021615.5(CHST6):c.294C>G (p.Ser98=) | 4166 | CHST6 | Benign | rs118144424 | RCV000546195; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513433 | 75513433 | | | 16:g.75513433G>C | ClinGen:CA8175534 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.290_293dup (p.Val99fs) | 4166 | CHST6 | Pathogenic | -1 | RCV002858407; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513433 | 75513434 | | | NC_000016.9:g.75513435_75513438dup | - | | |
NM_021615.5(CHST6):c.258A>C (p.Ala86=) | 4166 | CHST6 | Benign | rs61740901 | RCV000292878; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513469 | 75513469 | | | NC_000016.9:g.75513469T>G | ClinGen:CA8175547 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.237C>T (p.Thr79=) | 4166 | CHST6 | Benign/Likely benign | rs112148613 | RCV000966304|RCV001121452; | N | MedGen:CN517202|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513490 | 75513490 | | | 16:g.75513490G>A | - | | |
NM_021615.5(CHST6):c.211G>C (p.Glu71Gln) | 4166 | CHST6 | Likely pathogenic | -1 | RCV001785426; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513516 | 75513516 | | | 75513516 | - | | |
NM_021615.5(CHST6):c.196G>C (p.Val66Leu) | 4166 | CHST6 | Uncertain significance | rs72547547 | RCV000778478; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513531 | 75513531 | | | NC_000016.9:g.75513531C>G | - | | |
NM_021615.5(CHST6):c.172C>T (p.Gln58Ter) | 4166 | CHST6 | Pathogenic/Likely pathogenic | rs756036451 | RCV000598391|RCV002506409; | N | MedGen:CN517202|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513555 | 75513555 | | | 16:g.75513555G>A | ClinGen:CA8175566 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.130C>T (p.Leu44=) | 4166 | CHST6 | Benign/Likely benign | rs140675009 | RCV000966305|RCV001121453; | N | MedGen:CN517202|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513597 | 75513597 | | | 16:g.75513597G>A | - | | |
NM_021615.5(CHST6):c.129G>A (p.Val43=) | 4166 | CHST6 | Benign | rs112939575 | RCV000334104; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513598 | 75513598 | | | NC_000016.9:g.75513598C>T | ClinGen:CA8175577 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.120C>T (p.Arg40=) | 4166 | CHST6 | Benign | rs61740904 | RCV000388573; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513607 | 75513607 | | | NC_000016.9:g.75513607G>A | ClinGen:CA8175578 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.115G>C (p.Ala39Pro) | 4166 | CHST6 | Uncertain significance | rs760172031 | RCV001121454; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513612 | 75513612 | | | 16:g.75513612C>G | - | | |
NM_021615.5(CHST6):c.86C>T (p.Pro29Leu) | 4166 | CHST6 | Uncertain significance | rs1443299574 | RCV000660545; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513641 | 75513641 | | | NC_000016.9:g.75513641G>A | - | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.24C>T (p.Ser8=) | 4166 | CHST6 | Uncertain significance | rs1461106668 | RCV001121455; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513703 | 75513703 | | | 16:g.75513703G>A | - | | |
NM_021615.5(CHST6):c.15C>T (p.Arg5=) | 4166 | CHST6 | Conflicting interpretations of pathogenicity | rs762744897 | RCV001121456; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513712 | 75513712 | | | 16:g.75513712G>A | - | | |
NM_021615.5(CHST6):c.14G>C (p.Arg5Pro) | 4166 | CHST6 | Uncertain significance | -1 | RCV001918463; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513713 | 75513713 | | | 75513713 | - | | |
NM_021615.5(CHST6):c.7C>A (p.Leu3Met) | 4166 | CHST6 | Uncertain significance | rs780317850 | RCV001116563; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513720 | 75513720 | | | 16:g.75513720G>T | - | | |
NM_021615.5(CHST6):c.6G>A (p.Trp2Ter) | 4166 | CHST6 | Uncertain significance | rs753928736 | RCV000778479; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75513721 | 75513721 | | | NC_000016.9:g.75513721C>T | - | | |
NM_021615.5(CHST6):c.-21C>A | 4166 | CHST6 | Uncertain significance | rs886052322 | RCV000289481; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75515719 | 75515719 | | | NC_000016.9:g.75515719G>T | ClinGen:CA10648996 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.-66C>G | 4166 | CHST6 | Uncertain significance | rs886052323 | RCV000344519; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75515764 | 75515764 | | | NC_000016.9:g.75515764G>C | ClinGen:CA10638417 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.-78T>C | 4166 | CHST6 | Likely benign | rs114012239 | RCV000405327; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75515776 | 75515776 | | | NC_000016.9:g.75515776A>G | ClinGen:CA10638422 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.-115C>G | 4166 | CHST6 | Uncertain significance | rs886052324 | RCV000290791; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75528861 | 75528861 | | | NC_000016.9:g.75528861G>C | ClinGen:CA10648109 | C1636149 217800 Macular corneal dystrophy Type I; | |
NM_021615.5(CHST6):c.-154T>A | 4166 | CHST6 | Uncertain significance | rs886052325 | RCV000341211; | N | MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800, Orphanet:98969 | 16 | 75528900 | 75528900 | | | NC_000016.9:g.75528900A>T | ClinGen:CA10638423 | C1636149 217800 Macular corneal dystrophy Type I; | |