Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000009.12:g.(?_130664644)_(130681679_?)dup | 59335 | PRDM12 | Uncertain significance | -1 | RCV001033508; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540031 | 133557066 | | | -1 | - | | |
NC_000009.11:g.(?_133540041)_(133543720_?)dup | 59335 | PRDM12 | Uncertain significance | -1 | RCV002004637; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540041 | 133543720 | | | -1 | - | | |
NM_021619.3(PRDM12):c.8G>T (p.Gly3Val) | 59335 | PRDM12 | Uncertain significance | 2132586397 | RCV001948851; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540048 | 133540048 | | | 133540048 | - | | |
NM_021619.3(PRDM12):c.16C>T (p.Leu6Phe) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002886599; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540056 | 133540056 | | | NC_000009.11:g.133540056C>T | - | | |
NM_021619.3(PRDM12):c.20C>T (p.Pro7Leu) | 59335 | PRDM12 | Uncertain significance | 779277068 | RCV001971198; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540060 | 133540060 | | | 133540060 | - | | |
NM_021619.3(PRDM12):c.31C>A (p.Leu11Met) | 59335 | PRDM12 | Uncertain significance | -1 | RCV003069759; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540071 | 133540071 | | | NC_000009.11:g.133540071C>A | - | | |
NM_021619.3(PRDM12):c.46G>C (p.Gly16Arg) | 59335 | PRDM12 | Uncertain significance | 759815395 | RCV001870178; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540086 | 133540086 | | | 133540086 | - | | |
NM_021619.3(PRDM12):c.48G>A (p.Gly16=) | 59335 | PRDM12 | Likely benign | -1 | RCV003043194; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540088 | 133540088 | | | | - | | |
NM_021619.3(PRDM12):c.57G>T (p.Ala19=) | 59335 | PRDM12 | Likely benign | -1 | RCV002923005; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540097 | 133540097 | | | | - | | |
NM_021619.3(PRDM12):c.59C>A (p.Pro20Gln) | 59335 | PRDM12 | Uncertain significance | 1339705107 | RCV001903947; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540099 | 133540099 | | | 133540099 | - | | |
NM_021619.3(PRDM12):c.62G>A (p.Gly21Glu) | 59335 | PRDM12 | Uncertain significance | 2132586504 | RCV002039715; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540102 | 133540102 | | | 133540102 | - | | |
NM_021619.3(PRDM12):c.69G>C (p.Ala23=) | 59335 | PRDM12 | Likely benign | 1481511545 | RCV002204902; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540109 | 133540109 | | | 133540109 | - | | |
NM_021619.3(PRDM12):c.70C>T (p.Leu24=) | 59335 | PRDM12 | Likely benign | -1 | RCV003068161; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540110 | 133540110 | | | | - | | |
NM_021619.3(PRDM12):c.78G>T (p.Glu26Asp) | 59335 | PRDM12 | Uncertain significance | 546473973 | RCV001927749; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540118 | 133540118 | | | 133540118 | - | | |
NM_021619.3(PRDM12):c.81T>C (p.Val27=) | 59335 | PRDM12 | Likely benign | 1047555597 | RCV001411796; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540121 | 133540121 | | | 133540121 | - | | |
NM_021619.3(PRDM12):c.91G>T (p.Asp31Tyr) | 59335 | PRDM12 | Pathogenic | 879255637 | RCV000239529; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540131 | 133540131 | | | 9:g.133540131G>T | ClinGen:CA10586202,UniProtKB:Q9H4Q4#VAR_074617,OMIM:616458.0003 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.127A>G (p.Asn43Asp) | 59335 | PRDM12 | Uncertain significance | 149449772 | RCV001990867|RCV002370647; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133540167 | 133540167 | | | 133540167 | - | | |
NM_021619.3(PRDM12):c.128A>G (p.Asn43Ser) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002640306; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540168 | 133540168 | | | NC_000009.11:g.133540168A>G | - | | |
NM_021619.3(PRDM12):c.131_138del (p.Val44fs) | 59335 | PRDM12 | Pathogenic | 2132586619 | RCV001784875; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540170 | 133540177 | | | 133540169 | - | | |
NM_021619.3(PRDM12):c.132G>A (p.Val44=) | 59335 | PRDM12 | Likely benign | -1 | RCV002639233; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540172 | 133540172 | | | | - | | |
NM_021619.3(PRDM12):c.138G>A (p.Gly46=) | 59335 | PRDM12 | Likely benign | -1 | RCV002615134; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540178 | 133540178 | | | | - | | |
NM_021619.3(PRDM12):c.159G>C (p.Lys53Asn) | 59335 | PRDM12 | Uncertain significance | 755779307 | RCV001874807; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540199 | 133540199 | | | 133540199 | - | | |
NM_021619.3(PRDM12):c.161G>A (p.Ser54Asn) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002801067; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540201 | 133540201 | | | NC_000009.11:g.133540201G>A | - | | |
NM_021619.3(PRDM12):c.182C>T (p.Thr61Ile) | 59335 | PRDM12 | Uncertain significance | 748893320 | RCV001886369; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540222 | 133540222 | | | 133540222 | - | | |
NM_021619.3(PRDM12):c.183A>G (p.Thr61=) | 59335 | PRDM12 | Likely benign | -1 | RCV002593448; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540223 | 133540223 | | | | - | | |
NM_021619.3(PRDM12):c.219C>T (p.Ser73=) | 59335 | PRDM12 | Likely benign | 778954222 | RCV001530611|RCV002071896; | N | MedGen:C3661900|MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133540259 | 133540259 | | | 133540259 | - | | |
NM_021619.3(PRDM12):c.224-15G>T | 59335 | PRDM12 | Likely benign | -1 | RCV003077421; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133541980 | 133541980 | | | NC_000009.11:g.133541980G>T | - | | |
NM_021619.3(PRDM12):c.224-14C>T | 59335 | PRDM12 | Likely benign | -1 | RCV003079785; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133541981 | 133541981 | | | NC_000009.11:g.133541981C>T | - | | |
NM_021619.3(PRDM12):c.224-11C>G | 59335 | PRDM12 | Likely benign | -1 | RCV003062666; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133541984 | 133541984 | | | NC_000009.11:g.133541984C>G | - | | |
NM_021619.3(PRDM12):c.224-1G>A | 59335 | PRDM12 | Pathogenic | 2132588902 | RCV001385116; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133541994 | 133541994 | | | 133541994 | - | | |
NM_021619.3(PRDM12):c.231G>A (p.Gln77=) | 59335 | PRDM12 | Likely benign | 1350405661 | RCV002088393; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542002 | 133542002 | | | 133542002 | - | | |
NM_021619.3(PRDM12):c.266T>C (p.Ile89Thr) | 59335 | PRDM12 | Uncertain significance | 1588184171 | RCV001960156; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542037 | 133542037 | | | 133542037 | - | | |
NM_021619.3(PRDM12):c.301G>A (p.Gly101Ser) | 59335 | PRDM12 | Uncertain significance | 775563569 | RCV001979746; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542072 | 133542072 | | | 133542072 | - | | |
NM_021619.3(PRDM12):c.303del (p.Ile102fs) | 59335 | PRDM12 | Pathogenic | -1 | RCV003016068; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542074 | 133542074 | | | NC_000009.11:g.133542074del | - | | |
NM_021619.3(PRDM12):c.305T>A (p.Ile102Asn) | 59335 | PRDM12 | Pathogenic | 879255636 | RCV000239476; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542076 | 133542076 | | | 9:g.133542076T>A | ClinGen:CA10586201,UniProtKB:Q9H4Q4#VAR_074618,OMIM:616458.0002 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.318G>C (p.Thr106=) | 59335 | PRDM12 | Likely benign | 764649984 | RCV001407609; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542089 | 133542089 | | | 133542089 | - | | |
NM_021619.3(PRDM12):c.337G>A (p.Glu113Lys) | 59335 | PRDM12 | Uncertain significance | 1340429004 | RCV001206606; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542108 | 133542108 | | | 9:g.133542108G>A | - | | |
NM_021619.3(PRDM12):c.354C>T (p.Thr118=) | 59335 | PRDM12 | Likely benign | -1 | RCV002584237; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542125 | 133542125 | | | | - | | |
NM_021619.3(PRDM12):c.367G>A (p.Ala123Thr) | 59335 | PRDM12 | Uncertain significance | -1 | RCV003043212; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542138 | 133542138 | | | NC_000009.11:g.133542138G>A | - | | |
NM_021619.3(PRDM12):c.368C>T (p.Ala123Val) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002890220; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542139 | 133542139 | | | NC_000009.11:g.133542139C>T | - | | |
NM_021619.3(PRDM12):c.381G>A (p.Val127=) | 59335 | PRDM12 | Likely benign | 920723962 | RCV002143656; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542152 | 133542152 | | | 133542152 | - | | |
NM_021619.3(PRDM12):c.388T>C (p.Cys130Arg) | 59335 | PRDM12 | Uncertain significance | -1 | RCV003010059; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542159 | 133542159 | | | NC_000009.11:g.133542159T>C | - | | |
NM_021619.3(PRDM12):c.400A>C (p.Asn134His) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002903572; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542171 | 133542171 | | | NC_000009.11:g.133542171A>C | - | | |
NM_021619.3(PRDM12):c.401A>G (p.Asn134Ser) | 59335 | PRDM12 | Uncertain significance | 374410529 | RCV001998458; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542172 | 133542172 | | | 133542172 | - | | |
NM_021619.3(PRDM12):c.406A>G (p.Met136Val) | 59335 | PRDM12 | Uncertain significance | 2132589253 | RCV001969020; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542177 | 133542177 | | | 133542177 | - | | |
NM_021619.3(PRDM12):c.414+8C>T | 59335 | PRDM12 | Likely benign | 367850373 | RCV002093005; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542193 | 133542193 | | | 133542193 | - | | |
NM_021619.3(PRDM12):c.414+29_414+47del | 59335 | PRDM12 | Likely benign | 771268035 | RCV002217237; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133542205 | 133542223 | | | 133542204 | - | | |
NM_021619.3(PRDM12):c.415-12A>G | 59335 | PRDM12 | Likely benign | -1 | RCV002899208; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543533 | 133543533 | | | NC_000009.11:g.133543533A>G | - | | |
NM_021619.3(PRDM12):c.422A>G (p.Asn141Ser) | 59335 | PRDM12 | Uncertain significance | 572272341 | RCV001757109|RCV002329732|RCV001868462; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543552 | 133543552 | | | 133543552 | - | | |
NM_021619.3(PRDM12):c.426G>A (p.Glu142=) | 59335 | PRDM12 | Likely benign | 139493961 | RCV000539053|RCV002330971|RCV001551758; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 9 | 133543556 | 133543556 | | | NC_000009.11:g.133543556G>A | ClinGen:CA5284536 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.430G>A (p.Gly144Ser) | 59335 | PRDM12 | Uncertain significance | 141272501 | RCV001957784; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543560 | 133543560 | | | 133543560 | - | | |
NM_021619.3(PRDM12):c.431G>C (p.Gly144Ala) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002904445; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543561 | 133543561 | | | NC_000009.11:g.133543561G>C | - | | |
NM_021619.3(PRDM12):c.433A>C (p.Thr145Pro) | 59335 | PRDM12 | Uncertain significance | 1830750761 | RCV001343309; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543563 | 133543563 | | | 133543563 | - | | |
NM_021619.3(PRDM12):c.435G>A (p.Thr145=) | 59335 | PRDM12 | Likely benign | 369850639 | RCV002066065; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543565 | 133543565 | | | 9:g.133543565G>A | - | | |
NM_021619.3(PRDM12):c.439C>T (p.Arg147Cys) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002949399|RCV002962415; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543569 | 133543569 | | | NC_000009.11:g.133543569C>T | - | | |
NM_021619.3(PRDM12):c.440G>A (p.Arg147His) | 59335 | PRDM12 | Uncertain significance | 139807684 | RCV000688343|RCV002274088|RCV002331341; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 133543570 | 133543570 | | | NC_000009.11:g.133543570G>A | - | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.450C>T (p.Ile150=) | 59335 | PRDM12 | Likely benign | 772511432 | RCV001474121; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543580 | 133543580 | | | 9:g.133543580C>T | - | | |
NM_021619.3(PRDM12):c.472C>T (p.Arg158Trp) | 59335 | PRDM12 | Uncertain significance | 371786311 | RCV001863869|RCV002334749; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133543602 | 133543602 | | | 133543602 | - | | |
NM_021619.3(PRDM12):c.476G>A (p.Ser159Asn) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002643108; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543606 | 133543606 | | | NC_000009.11:g.133543606G>A | - | | |
NM_021619.3(PRDM12):c.499G>A (p.Ala167Thr) | 59335 | PRDM12 | Uncertain significance | 1554752141 | RCV000553956; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543629 | 133543629 | | | NC_000009.11:g.133543629G>A | ClinGen:CA375247082 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.503G>A (p.Arg168His) | 59335 | PRDM12 | Uncertain significance | 1049529374 | RCV001228371; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543633 | 133543633 | | | 9:g.133543633G>A | - | | |
NM_021619.3(PRDM12):c.507C>T (p.Asn169=) | 59335 | PRDM12 | Likely benign | -1 | RCV002899571; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543637 | 133543637 | | | | - | | |
NM_021619.3(PRDM12):c.508G>A (p.Glu170Lys) | 59335 | PRDM12 | Uncertain significance | 779851108 | RCV001870524; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543638 | 133543638 | | | 133543638 | - | | |
NM_021619.3(PRDM12):c.515A>G (p.Glu172Gly) | 59335 | PRDM12 | Uncertain significance | 2132591436 | RCV001912797; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543645 | 133543645 | | | 133543645 | - | | |
NM_021619.3(PRDM12):c.516G>C (p.Glu172Asp) | 59335 | PRDM12 | Pathogenic | 755205487 | RCV000239564; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543646 | 133543646 | | | 9:g.133543646G>C | ClinGen:CA10586203,UniProtKB:Q9H4Q4#VAR_074621,OMIM:616458.0004 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.522C>A (p.Asn174Lys) | 59335 | PRDM12 | Uncertain significance | 1162256150 | RCV002003532; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543652 | 133543652 | | | 133543652 | - | | |
NM_021619.3(PRDM12):c.538A>G (p.Ile180Val) | 59335 | PRDM12 | Uncertain significance | 375684006 | RCV001985026|RCV002344096; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133543668 | 133543668 | | | 133543668 | - | | |
NM_021619.3(PRDM12):c.540C>T (p.Ile180=) | 59335 | PRDM12 | Likely benign | 145300834 | RCV000872190; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543670 | 133543670 | | | 9:g.133543670C>T | - | | |
NM_021619.3(PRDM12):c.541G>A (p.Gly181Ser) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002349482|RCV003096731; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543671 | 133543671 | | | 133543671 | - | | |
NM_021619.3(PRDM12):c.547A>G (p.Ser183Gly) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002349830|RCV003096759; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543677 | 133543677 | | | 133543677 | - | | |
NM_021619.3(PRDM12):c.566T>C (p.Ile189Thr) | 59335 | PRDM12 | Uncertain significance | 768492772 | RCV001970613; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543696 | 133543696 | | | 133543696 | - | | |
NM_021619.3(PRDM12):c.570+1GT[10] | 59335 | PRDM12 | Likely benign | 138789124 | RCV000652887; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543700 | 133543701 | | | 9:g.133543700_133543701insGTGT | ClinGen:CA5284569 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.570+1GT[9] | 59335 | PRDM12 | Benign | 138789124 | RCV001522844; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543700 | 133543701 | | | 133543700 | - | | |
NM_021619.3(PRDM12):c.570+1GT[7] | 59335 | PRDM12 | Benign | 138789124 | RCV002136287; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543701 | 133543702 | | | 133543700 | - | | |
NM_021619.3(PRDM12):c.570+1GT[3] | 59335 | PRDM12 | Likely benign | -1 | RCV002942968; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543701 | 133543710 | | | NC_000009.11:g.133543702TG[3] | - | | |
NM_021619.3(PRDM12):c.570+17G>T | 59335 | PRDM12 | Likely benign | -1 | RCV002638282; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133543717 | 133543717 | | | NC_000009.11:g.133543717G>T | - | | |
NC_000009.12:g.130677193_130686925del | 59335 | PRDM12 | Pathogenic | -1 | RCV000850246; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133552559 | 133562291 | | | 9:g.133552559_133552657del | - | | |
NC_000009.12:g.(?_130678509)_(130678660_?)del | 59335 | PRDM12 | Uncertain significance | -1 | RCV000708377; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133553896 | 133554047 | | | | - | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NC_000009.11:g.(?_133553896)_(133557056_?)del | 59335 | PRDM12 | Uncertain significance | -1 | RCV001993068; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133553896 | 133557056 | | | -1 | - | | |
NC_000009.11:g.(?_133553896)_(133557056_?)dup | 59335 | PRDM12 | Uncertain significance | -1 | RCV002014758; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133553896 | 133557056 | | | -1 | - | | |
NM_021619.3(PRDM12):c.571-11C>T | 59335 | PRDM12 | Likely benign | -1 | RCV002594762; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133553905 | 133553905 | | | NC_000009.11:g.133553905C>T | - | | |
GRCh37/hg19 9q34.12(chr9:133553916-133554028) | 59335 | PRDM12 | Pathogenic | -1 | RCV001195158; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133553916 | 133554028 | | | -1 | - | | |
NM_021619.3(PRDM12):c.572T>C (p.Met191Thr) | 59335 | PRDM12 | Uncertain significance | 752370747 | RCV001948130|RCV002344039; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133553917 | 133553917 | | | 133553917 | - | | |
NM_021619.3(PRDM12):c.606C>T (p.Tyr202=) | 59335 | PRDM12 | Likely benign | 764212313 | RCV002106175; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133553951 | 133553951 | | | 133553951 | - | | |
NM_021619.3(PRDM12):c.607G>A (p.Gly203Arg) | 59335 | PRDM12 | Conflicting interpretations of pathogenicity | 375887892 | RCV000706791|RCV002352217; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133553952 | 133553952 | | | 9:g.133553952G>A | - | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.620A>G (p.Asn207Ser) | 59335 | PRDM12 | Uncertain significance | 756533687 | RCV001053389|RCV003353132; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133553965 | 133553965 | | | 9:g.133553965A>G | - | | |
NM_021619.3(PRDM12):c.640G>A (p.Gly214Ser) | 59335 | PRDM12 | Uncertain significance | 1176008733 | RCV001920887; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133553985 | 133553985 | | | 133553985 | - | | |
NM_021619.3(PRDM12):c.648C>T (p.Pro216=) | 59335 | PRDM12 | Benign | 7021384 | RCV001512042|RCV001615184; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MedGen:C3661900 | 9 | 133553993 | 133553993 | | | 133553993 | - | | |
NM_021619.3(PRDM12):c.654A>G (p.Leu218=) | 59335 | PRDM12 | Likely benign | 759474344 | RCV001436299; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133553999 | 133553999 | | | 133553999 | - | | |
NM_021619.3(PRDM12):c.655G>A (p.Glu219Lys) | 59335 | PRDM12 | Uncertain significance | 139266687 | RCV002031327; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133554000 | 133554000 | | | 133554000 | - | | |
NM_021619.3(PRDM12):c.662A>C (p.Asp221Ala) | 59335 | PRDM12 | Uncertain significance | -1 | RCV003047376; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133554007 | 133554007 | | | NC_000009.11:g.133554007A>C | - | | |
NM_021619.3(PRDM12):c.667A>C (p.Lys223Gln) | 59335 | PRDM12 | Uncertain significance | 764418424 | RCV002039489; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133554012 | 133554012 | | | 133554012 | - | | |
NM_021619.3(PRDM12):c.681T>C (p.His227=) | 59335 | PRDM12 | Uncertain significance | 2132604435 | RCV001952925; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133554026 | 133554026 | | | 133554026 | - | | |
NM_021619.3(PRDM12):c.682G>C (p.Glu228Gln) | 59335 | PRDM12 | Uncertain significance | 762081941 | RCV001951862|RCV002361239; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133554027 | 133554027 | | | 133554027 | - | | |
NM_021619.3(PRDM12):c.682+8T>A | 59335 | PRDM12 | Likely benign | -1 | RCV003011423; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133554035 | 133554035 | | | NC_000009.11:g.133554035T>A | - | | |
NM_021619.3(PRDM12):c.682+10C>A | 59335 | PRDM12 | Likely benign | 2132604465 | RCV002200833; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133554037 | 133554037 | | | 133554037 | - | | |
NM_021619.3(PRDM12):c.682+10C>T | 59335 | PRDM12 | Likely benign | -1 | RCV002886035; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133554037 | 133554037 | | | NC_000009.11:g.133554037C>T | - | | |
NM_021619.3(PRDM12):c.682+14A>G | 59335 | PRDM12 | Likely benign | -1 | RCV002585850; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133554041 | 133554041 | | | NC_000009.11:g.133554041A>G | - | | |
NM_021619.3(PRDM12):c.682+18G>A | 59335 | PRDM12 | Likely benign | 767733922 | RCV002100784; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133554045 | 133554045 | | | 133554045 | - | | |
NM_021619.3(PRDM12):c.682+38A>G | 59335 | PRDM12 | Benign | 7030674 | RCV001611187|RCV001789435; | N | MedGen:C3661900|MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133554065 | 133554065 | | | 133554065 | - | | |
NM_021619.3(PRDM12):c.683-18G>T | 59335 | PRDM12 | Likely benign | 775262497 | RCV002216822; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556617 | 133556617 | | | 133556617 | - | | |
NM_021619.3(PRDM12):c.683-9C>T | 59335 | PRDM12 | Likely benign | 1308638211 | RCV002202505; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556626 | 133556626 | | | 133556626 | - | | |
NM_021619.3(PRDM12):c.683-8G>C | 59335 | PRDM12 | Likely benign | -1 | RCV003046137; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556627 | 133556627 | | | NC_000009.11:g.133556627G>C | - | | |
NM_021619.3(PRDM12):c.683-7C>T | 59335 | PRDM12 | Likely benign | -1 | RCV002815819; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556628 | 133556628 | | | NC_000009.11:g.133556628C>T | - | | |
NM_021619.3(PRDM12):c.683-5G>A | 59335 | PRDM12 | Likely benign | 1207274323 | RCV001414506; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556630 | 133556630 | | | 133556630 | - | | |
NM_021619.3(PRDM12):c.683-1G>A | 59335 | PRDM12 | Likely pathogenic | 2132607877 | RCV001843830; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556634 | 133556634 | | | 133556634 | - | | |
NM_021619.3(PRDM12):c.690C>T (p.Phe230=) | 59335 | PRDM12 | Likely benign | 774244310 | RCV002144253; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556642 | 133556642 | | | 133556642 | - | | |
NM_021619.3(PRDM12):c.694C>T (p.Pro232Ser) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002917626; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556646 | 133556646 | | | NC_000009.11:g.133556646C>T | - | | |
NM_021619.3(PRDM12):c.696G>T (p.Pro232=) | 59335 | PRDM12 | Likely benign | -1 | RCV002917627; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556648 | 133556648 | | | | - | | |
NM_021619.3(PRDM12):c.708G>C (p.Ala236=) | 59335 | PRDM12 | Likely benign | -1 | RCV003002613; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556660 | 133556660 | | | | - | | |
NM_021619.3(PRDM12):c.711T>G (p.Ala237=) | 59335 | PRDM12 | Likely benign | 754277042 | RCV000532669|RCV002367955; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133556663 | 133556663 | | | NC_000009.11:g.133556663T>G | ClinGen:CA5284648 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.714C>T (p.Gly238=) | 59335 | PRDM12 | Likely benign | -1 | RCV002681335; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556666 | 133556666 | | | | - | | |
NM_021619.3(PRDM12):c.719C>G (p.Ala240Gly) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002370812|RCV003103372; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556671 | 133556671 | | | 133556671 | - | | |
NM_021619.3(PRDM12):c.721G>A (p.Gly241Ser) | 59335 | PRDM12 | Uncertain significance | 2132607974 | RCV001892100; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556673 | 133556673 | | | 133556673 | - | | |
NM_021619.3(PRDM12):c.729G>A (p.Met243Ile) | 59335 | PRDM12 | Uncertain significance | 899015393 | RCV001235505; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556681 | 133556681 | | | 9:g.133556681G>A | - | | |
NM_021619.3(PRDM12):c.738C>T (p.Val246=) | 59335 | PRDM12 | Likely benign | -1 | RCV002923758; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556690 | 133556690 | | | | - | | |
NM_021619.3(PRDM12):c.742T>G (p.Cys248Gly) | 59335 | PRDM12 | Conflicting interpretations of pathogenicity | 2132608027 | RCV001563585|RCV001658296; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MedGen:C3661900 | 9 | 133556694 | 133556694 | | | 133556694 | - | | |
NM_021619.3(PRDM12):c.767_790dup (p.Ser256_Arg263dup) | 59335 | PRDM12 | Uncertain significance | 2132608047 | RCV002050041; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556713 | 133556714 | | | 133556713 | - | | |
NM_021619.3(PRDM12):c.785T>G (p.Met262Arg) | 59335 | PRDM12 | Pathogenic | 2132608070 | RCV001805751; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556737 | 133556737 | | | 133556737 | - | | |
NM_021619.3(PRDM12):c.788G>A (p.Arg263His) | 59335 | PRDM12 | Conflicting interpretations of pathogenicity | 2132608078 | RCV001655904|RCV001563586; | N | MedGen:C3661900|MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556740 | 133556740 | | | 133556740 | - | | |
NM_021619.3(PRDM12):c.794A>C (p.His265Pro) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002970668; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556746 | 133556746 | | | NC_000009.11:g.133556746A>C | - | | |
NM_021619.3(PRDM12):c.795C>T (p.His265=) | 59335 | PRDM12 | Likely benign | 1202928792 | RCV002102763; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556747 | 133556747 | | | 133556747 | - | | |
NM_021619.3(PRDM12):c.831C>G (p.Asn277Lys) | 59335 | PRDM12 | Uncertain significance | 995100590 | RCV000693762; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556783 | 133556783 | | | NC_000009.11:g.133556783C>G | - | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.855G>A (p.Thr285=) | 59335 | PRDM12 | Benign/Likely benign | 76175818 | RCV000543004|RCV001536848|RCV002448789; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 9 | 133556807 | 133556807 | | | 9:g.133556807G>A | ClinGen:CA5284667 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.856C>T (p.Leu286=) | 59335 | PRDM12 | Likely benign | 759974571 | RCV002124186; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556808 | 133556808 | | | 133556808 | - | | |
NM_021619.3(PRDM12):c.866A>T (p.His289Leu) | 59335 | PRDM12 | Pathogenic | 879255638 | RCV000239481; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556818 | 133556818 | | | 9:g.133556818A>T | ClinGen:CA10586204,UniProtKB:Q9H4Q4#VAR_074622,OMIM:616458.0005 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.866A>G (p.His289Arg) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002297694; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556818 | 133556818 | | | 133556818 | - | | |
NM_021619.3(PRDM12):c.882G>A (p.Thr294=) | 59335 | PRDM12 | Likely benign | 765720995 | RCV002119940; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556834 | 133556834 | | | 133556834 | - | | |
NM_021619.3(PRDM12):c.884G>A (p.Gly295Asp) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002801690; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556836 | 133556836 | | | NC_000009.11:g.133556836G>A | - | | |
NM_021619.3(PRDM12):c.890G>T (p.Arg297Leu) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002829291; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556842 | 133556842 | | | NC_000009.11:g.133556842G>T | - | | |
NM_021619.3(PRDM12):c.897C>T (p.Tyr299=) | 59335 | PRDM12 | Likely benign | -1 | RCV002913974; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556849 | 133556849 | | | | - | | |
NM_021619.3(PRDM12):c.945C>G (p.Arg315=) | 59335 | PRDM12 | Likely benign | -1 | RCV002988577; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556897 | 133556897 | | | | - | | |
NM_021619.3(PRDM12):c.975G>A (p.Pro325=) | 59335 | PRDM12 | Likely benign | -1 | RCV002978983; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556927 | 133556927 | | | | - | | |
NM_021619.3(PRDM12):c.978C>T (p.Pro326=) | 59335 | PRDM12 | Benign | 12004652 | RCV001512043|RCV001538426; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MedGen:C3661900 | 9 | 133556930 | 133556930 | | | 133556930 | - | | |
NM_021619.3(PRDM12):c.979A>G (p.Ser327Gly) | 59335 | PRDM12 | Uncertain significance | 1588190015 | RCV000817466; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556931 | 133556931 | | | 9:g.133556931A>G | - | | |
NM_021619.3(PRDM12):c.980G>C (p.Ser327Thr) | 59335 | PRDM12 | Conflicting interpretations of pathogenicity | 747995562 | RCV002159935|RCV002372947; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133556932 | 133556932 | | | 133556932 | - | | |
NM_021619.3(PRDM12):c.992_1012dup (p.Gln331_Leu337dup) | 59335 | PRDM12 | Uncertain significance | 1220406010 | RCV001886037; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556934 | 133556935 | | | 133556934 | - | | |
NM_021619.3(PRDM12):c.986C>T (p.Ala329Val) | 59335 | PRDM12 | Uncertain significance | 1238828425 | RCV001215050; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556938 | 133556938 | | | 9:g.133556938C>T | - | | |
NM_021619.3(PRDM12):c.987G>A (p.Ala329=) | 59335 | PRDM12 | Likely benign | 771967985 | RCV001485171; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556939 | 133556939 | | | 133556939 | - | | |
NM_021619.3(PRDM12):c.989T>C (p.Leu330Pro) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002595429; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556941 | 133556941 | | | NC_000009.11:g.133556941T>C | - | | |
NM_021619.3(PRDM12):c.993_1013dup (p.His333_Ala339dup) | 59335 | PRDM12 | Uncertain significance | 1438711270 | RCV002010318; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556944 | 133556945 | | | 133556944 | - | | |
NM_021619.3(PRDM12):c.993G>A (p.Gln331=) | 59335 | PRDM12 | Likely benign | 1830901934 | RCV002207751; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556945 | 133556945 | | | 133556945 | - | | |
NM_021619.3(PRDM12):c.996_1016dup (p.Ala339_Pro340insHisSerProAlaLeuProAla) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002886705; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556945 | 133556946 | | | NC_000009.11:g.133556948_133556968dup | - | | |
NM_021619.3(PRDM12):c.995C>A (p.Ala332Glu) | 59335 | PRDM12 | Likely benign | 773010364 | RCV000553040|RCV001591292|RCV002384249; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 9 | 133556947 | 133556947 | | | NC_000009.11:g.133556947C>A | ClinGen:CA5284681 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.995C>T (p.Ala332Val) | 59335 | PRDM12 | Uncertain significance | 773010364 | RCV000700550; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556947 | 133556947 | | | 9:g.133556947C>T | - | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.996A>C (p.Ala332=) | 59335 | PRDM12 | Likely benign | -1 | RCV003063246; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556948 | 133556948 | | | | - | | |
NM_021619.3(PRDM12):c.1001C>T (p.Ser334Leu) | 59335 | PRDM12 | Uncertain significance | -1 | RCV003068647; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556953 | 133556953 | | | NC_000009.11:g.133556953C>T | - | | |
NM_021619.3(PRDM12):c.1003C>A (p.Pro335Thr) | 59335 | PRDM12 | Uncertain significance | 1564249834 | RCV000692744; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556955 | 133556955 | | | 9:g.133556955C>A | - | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1005C>G (p.Pro335=) | 59335 | PRDM12 | Likely benign | -1 | RCV003058844; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556957 | 133556957 | | | | - | | |
NM_021619.3(PRDM12):c.1007C>T (p.Ala336Val) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002595295; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556959 | 133556959 | | | NC_000009.11:g.133556959C>T | - | | |
NM_021619.3(PRDM12):c.1012C>T (p.Pro338Ser) | 59335 | PRDM12 | Uncertain significance | 1830902490 | RCV002009659; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556964 | 133556964 | | | 133556964 | - | | |
NM_021619.3(PRDM12):c.1013C>A (p.Pro338His) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002815215; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556965 | 133556965 | | | NC_000009.11:g.133556965C>A | - | | |
NM_021619.3(PRDM12):c.1014C>T (p.Pro338=) | 59335 | PRDM12 | Likely benign | 1230135786 | RCV001464962; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556966 | 133556966 | | | 133556966 | - | | |
NM_021619.3(PRDM12):c.1022ACGCGC[3] (p.341HA[3]) | 59335 | PRDM12 | Conflicting interpretations of pathogenicity | 1288821918 | RCV000692103|RCV002386199; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133556970 | 133556971 | | | 9:g.133556970_133556971insCGCACG | - | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1020G>T (p.Pro340=) | 59335 | PRDM12 | Likely benign | 1588190054 | RCV001428766; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556972 | 133556972 | | | 9:g.133556972G>T | - | | |
NM_021619.3(PRDM12):c.1022A>C (p.His341Pro) | 59335 | PRDM12 | Uncertain significance | 968896860 | RCV001872857|RCV002440952; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133556974 | 133556974 | | | 133556974 | - | | |
NM_021619.3(PRDM12):c.1023C>A (p.His341Gln) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002811973; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556975 | 133556975 | | | NC_000009.11:g.133556975C>A | - | | |
NM_021619.3(PRDM12):c.1034_1039dup (p.Pro345_Ala346dup) | 59335 | PRDM12 | Uncertain significance | 1298266062 | RCV000652886; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556980 | 133556981 | | | NC_000009.11:g.133556986_133556991dup | ClinGen:CA658797308 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1028A>C (p.His343Pro) | 59335 | PRDM12 | Uncertain significance | 1443107336 | RCV001059611|RCV002379578; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133556980 | 133556980 | | | 9:g.133556980A>C | - | | |
NM_021619.3(PRDM12):c.1032_1043dup (p.Pro345_Ala348dup) | 59335 | PRDM12 | Uncertain significance | 1554753223 | RCV001208210; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556980 | 133556981 | | | 9:g.133556980_133556981insCGCGCCCGCGCT | - | | |
NM_021619.3(PRDM12):c.1032G>A (p.Ala344=) | 59335 | PRDM12 | Likely benign | 1249686797 | RCV002151136; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556984 | 133556984 | | | 133556984 | - | | |
NM_021619.3(PRDM12):c.1033C>G (p.Pro345Ala) | 59335 | PRDM12 | Uncertain significance | 2132608634 | RCV001997604; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556985 | 133556985 | | | 133556985 | - | | |
NM_021619.3(PRDM12):c.1034C>T (p.Pro345Leu) | 59335 | PRDM12 | Uncertain significance | 1484358479 | RCV001897948; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556986 | 133556986 | | | 133556986 | - | | |
NM_021619.3(PRDM12):c.1034C>A (p.Pro345His) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002389548|RCV003095119; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556986 | 133556986 | | | 133556986 | - | | |
NM_021619.3(PRDM12):c.1035C>T (p.Pro345=) | 59335 | PRDM12 | Likely benign | -1 | RCV003074300; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556987 | 133556987 | | | | - | | |
NM_021619.3(PRDM12):c.1038_1040del (p.Leu347del) | 59335 | PRDM12 | Uncertain significance | 1432976326 | RCV001992476; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556990 | 133556992 | | | 133556989 | - | | |
NM_021619.3(PRDM12):c.1039C>G (p.Leu347Val) | 59335 | PRDM12 | Uncertain significance | 1564249877 | RCV000688345; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556991 | 133556991 | | | 9:g.133556991C>G | - | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1041CGC[15] (p.Ala357_Ala359dup) | 59335 | PRDM12 | Conflicting interpretations of pathogenicity | 752427775 | RCV000525340|RCV002526723; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133556992 | 133556993 | | | NC_000009.11:g.133556993CGC[15] | ClinGen:CA590945313 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1041CGC[13] (p.Ala359dup) | 59335 | PRDM12 | Benign | 752427775 | RCV000528965|RCV001637086|RCV001701087; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MedGen:C3661900|MedGen:CN169374 | 9 | 133556992 | 133556993 | | | NC_000009.11:g.133556993CGC[13] | ClinGen:CA200624810 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1041CGC[19] (p.Ala353_Ala359dup) | 59335 | PRDM12 | Uncertain significance | 752427775 | RCV000547823; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556992 | 133556993 | | | 9:g.133556992_133556993insCGCCGCCGCCGCCGCCGCCGC | ClinGen:CA658657912 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1041CGC[14] (p.Ala358_Ala359dup) | 59335 | PRDM12 | Benign | 752427775 | RCV000554804|RCV001683589; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MedGen:C3661900 | 9 | 133556992 | 133556993 | | | 9:g.133556992_133556993insCGCCGC | ClinGen:CA467495894 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1041CGC[16] (p.Ala356_Ala359dup) | 59335 | PRDM12 | Benign | 752427775 | RCV000652889; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556992 | 133556993 | | | NC_000009.11:g.133556993CGC[16] | ClinGen:CA658797309 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1041CGC[17] (p.Ala355_Ala359dup) | 59335 | PRDM12 | Uncertain significance | 752427775 | RCV001051772; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556992 | 133556993 | | | 9:g.133556992_133556993insCGCCGCCGCCGCCGC | - | | |
NM_021619.3(PRDM12):c.1041CGC[18] (p.Ala354_Ala359dup) | 59335 | PRDM12 | Likely pathogenic | 752427775 | RCV001051882; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556992 | 133556993 | | | 9:g.133556992_133556993insCGCCGCCGCCGCCGCCGC | - | | |
NM_021619.3(PRDM12):c.1048_1049insACGCCGCCG (p.Ala349_Ala350insAspAlaAla) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002816239; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556992 | 133556993 | | | NC_000009.11:g.133556993_133557000CGC[2]CGACGCCGCCG[1] | - | | |
NM_021619.3(PRDM12):c.1041CGC[(15_?)] | 59335 | PRDM12 | Pathogenic | -1 | RCV000239565; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556993 | 133556995 | | | | OMIM:616458.0001 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1041CGC[5] (p.Ala353_Ala359del) | 59335 | PRDM12 | Uncertain significance | 752427775 | RCV000537474; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556993 | 133557013 | | | NC_000009.11:g.133556993CGC[5] | ClinGen:CA467495905 | | |
NM_021619.3(PRDM12):c.1041CGC[9] (p.Ala357_Ala359del) | 59335 | PRDM12 | Benign | 752427775 | RCV000551450|RCV001619793|RCV002413634; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 9 | 133556993 | 133557001 | | | NC_000009.11:g.133556993CGC[9] | ClinGen:CA200624807 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1041CGC[10] (p.Ala358_Ala359del) | 59335 | PRDM12 | Benign/Likely benign | 752427775 | RCV000539915|RCV002525327; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133556993 | 133556998 | | | NC_000009.11:g.133556993CGC[10] | ClinGen:CA658657911 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1041CGC[6] (p.Ala354_Ala359del) | 59335 | PRDM12 | Benign/Likely benign | 752427775 | RCV000525968|RCV001574491; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MedGen:C3661900 | 9 | 133556993 | 133557010 | | | NC_000009.11:g.133556993CGC[6] | ClinGen:CA467495893 | | |
NM_021619.3(PRDM12):c.1041CGC[7] (p.Ala355_Ala359del) | 59335 | PRDM12 | Benign/Likely benign | 752427775 | RCV000536276|RCV001591291; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MedGen:C3661900 | 9 | 133556993 | 133557007 | | | NC_000009.11:g.133556993CGC[7] | ClinGen:CA467495897 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1041CGC[8] (p.Ala356_Ala359del) | 59335 | PRDM12 | Likely benign | 752427775 | RCV000652888|RCV003243240; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133556993 | 133557004 | | | NC_000009.11:g.133556993CGC[8] | ClinGen:CA467495892 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1041CGC[11] (p.Ala359del) | 59335 | PRDM12 | Conflicting interpretations of pathogenicity | 752427775 | RCV000803110|RCV001637992|RCV003166223; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 9 | 133556993 | 133556995 | | | 9:g.133556993_133556995del | - | | |
NM_021619.3(PRDM12):c.1043_1044insTGC (p.Ala359_His360insAla) | 59335 | PRDM12 | Uncertain significance | -1 | RCV003044598; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556993 | 133556994 | | | NC_000009.11:g.133556995_133556996insTGC | - | | |
NM_021619.3(PRDM12):c.1044_1045insACC (p.Ala348_Ala349insThr) | 59335 | PRDM12 | Uncertain significance | 1429038624 | RCV000558731|RCV003343923; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MeSH:D030342,MedGen:C0950123 | 9 | 133556994 | 133556995 | | | 9:g.133556994_133556995insCCA | ClinGen:CA590945314 | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1049_1050insTGC (p.Ala359dup) | 59335 | PRDM12 | Uncertain significance | 1830904424 | RCV001222458; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133556999 | 133557000 | | | 9:g.133556999_133557000insGCT | - | | |
NM_021619.3(PRDM12):c.1056del (p.Ala353fs) | 59335 | PRDM12 | Likely benign | 1426874704 | RCV001408649; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133557007 | 133557007 | | | 133557006 | - | | |
NM_021619.3(PRDM12):c.1065C>G (p.Ala355=) | 59335 | PRDM12 | Likely benign | 924884910 | RCV002147197|RCV003434422; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664|MedGen:C3661900 | 9 | 133557017 | 133557017 | | | 133557017 | - | | |
NM_021619.3(PRDM12):c.1067C>T (p.Ala356Val) | 59335 | PRDM12 | Uncertain significance | 2132608870 | RCV001907657; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133557019 | 133557019 | | | 133557019 | - | | |
NM_021619.3(PRDM12):c.1073_1074insGGC (p.Ala359dup) | 59335 | PRDM12 | Benign | 1368159897 | RCV001511016; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133557023 | 133557024 | | | 133557023 | - | | |
NM_021619.3(PRDM12):c.1076_1077insCTC (p.Ala359_His360insSer) | 59335 | PRDM12 | Uncertain significance | 2132608912 | RCV001960828; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133557027 | 133557028 | | | 133557027 | - | | |
NM_021619.3(PRDM12):c.1076C>T (p.Ala359Val) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002640656; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133557028 | 133557028 | | | NC_000009.11:g.133557028C>T | - | | |
NM_021619.3(PRDM12):c.1077G>T (p.Ala359=) | 59335 | PRDM12 | Likely benign | 1214039549 | RCV001434557; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133557029 | 133557029 | | | 133557029 | - | | |
NM_021619.3(PRDM12):c.1084C>T (p.Leu362=) | 59335 | PRDM12 | Likely benign | 1308500340 | RCV002074553; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133557036 | 133557036 | | | 133557036 | - | | |
NM_021619.3(PRDM12):c.1085T>A (p.Leu362Gln) | 59335 | PRDM12 | Uncertain significance | -1 | RCV002745700; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133557037 | 133557037 | | | NC_000009.11:g.133557037T>A | - | | |
NM_021619.3(PRDM12):c.1093A>G (p.Met365Val) | 59335 | PRDM12 | Uncertain significance | 1344661944 | RCV000694155; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133557045 | 133557045 | | | NC_000009.11:g.133557045A>G | - | C4225308 616488 Neuropathy, hereditary sensory and autonomic, type VIII; | |
NM_021619.3(PRDM12):c.1095G>A (p.Met365Ile) | 59335 | PRDM12 | Uncertain significance | 2132608956 | RCV001999113; | N | MONDO:MONDO:0014662,MedGen:C4225308,OMIM:616488, Orphanet:478664 | 9 | 133557047 | 133557047 | | | 133557047 | - | | |