Disease Browser
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Parent Node:
Hereditary Sensory and Autonomic Neuropathies (D009477) | ..Starting node .. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
| Child Nodes:
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Sister Nodes: | .. CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
| .. Cervical hypertrichosis neuropathy (C537956)
| .. Dysautonomia, Familial (D004402) 1
| .. Hamanishi Ueba Tsuji syndrome (C535624)
| .. Hereditary Sensory and Autonomic Neuropathy Type Ie (C580162)
| .. Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia (C563870)
| .. Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux (C564296)
| .. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
| .. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
| .. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
| .. Neuropathy, Hereditary Sensory And Autonomic, Type IIB (C567738)
| .. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
| .. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
| .. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
| .. NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
| .. NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
| .. NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
| .. NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
| .. Neuropathy, Hereditary Sensory, X-Linked (C564090)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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Term ID: | 8853 |
Name: | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI |
Definition: | |
Alternative IDs: | DO:DOID:0070151 |
ParentIDs: | MESH:D009477 |
TreeNumbers: | C10.500.250/614653 |C10.574.500.493/614653 |C10.668.829.800.175/614653 |C16.131.666.310/614653 |C16.320.400.415/614653 |
Synonyms: | HSAN6 |HSAN VI |
Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Nervous system disease |
Reference: |
MedGen: 614653
MeSH: 614653
OMIM: 614653; MSeqDR : Genes: DST; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000006.11:g.(?_56323793)_(56507596_?)dup | 667 | DST | Uncertain significance | -1 | RCV000809299; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323793 | 56507596 | na | na | | - | | | NC_000006.12:g.(?_56458995)_(56642798_?)del | 667 | DST | Pathogenic | -1 | RCV001033643; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323793 | 56507596 | na | na | -1 | - | | | NM_001374736.1(DST):c.23438del (p.Asp7813fs) | 667 | DST | Uncertain significance | -1 | RCV001367378; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323822 | 56323822 | GT | G | 56323821 | - | | | NM_001374736.1(DST):c.23437G>A (p.Asp7813Asn) | 667 | DST | Uncertain significance | rs956139209 | RCV001247638; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56323823 | 56323823 | C | T | 6:g.56323823C>T | - | | | NM_001374736.1(DST):c.23435T>G (p.Leu7812Trp) | 667 | DST | Uncertain significance | -1 | RCV001367243; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323825 | 56323825 | A | C | 56323825 | - | | | NM_001374736.1(DST):c.23433A>G (p.Lys7811=) | 667 | DST | Likely benign | -1 | RCV001474737; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323827 | 56323827 | T | C | 56323827 | - | | | NM_001374736.1(DST):c.23432A>G (p.Lys7811Arg) | 667 | DST | Uncertain significance | rs201891015 | RCV001242561; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56323828 | 56323828 | T | C | 6:g.56323828T>C | - | | | NM_001374736.1(DST):c.23425G>C (p.Ala7809Pro) | 667 | DST | Uncertain significance | -1 | RCV001955668; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56323835 | 56323835 | C | G | 56323835 | - | | | NM_001374736.1(DST):c.23415G>A (p.Arg7805=) | 667 | DST | Likely benign | -1 | RCV001490249; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323845 | 56323845 | C | T | 56323845 | - | | | NM_001374736.1(DST):c.23406G>A (p.Thr7802=) | 667 | DST | Likely benign | -1 | RCV001411394; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323854 | 56323854 | C | T | 56323854 | - | | | NM_001374736.1(DST):c.23405C>T (p.Thr7802Met) | 667 | DST | Uncertain significance | rs367598583 | RCV001245650; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56323855 | 56323855 | G | A | 6:g.56323855G>A | - | | | NM_001374736.1(DST):c.23402C>T (p.Pro7801Leu) | 667 | DST | Likely pathogenic | rs1242078669 | RCV000754750; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56323858 | 56323858 | G | A | NC_000006.11:g.56323858G>A | - | | | NM_001374736.1(DST):c.23385G>A (p.Ala7795=) | 667 | DST | Likely benign | -1 | RCV001466797; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323875 | 56323875 | C | T | 56323875 | - | | | NM_001374736.1(DST):c.23361A>G (p.Arg7787=) | 667 | DST | Likely benign | -1 | RCV001410536; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323899 | 56323899 | T | C | 56323899 | - | | | NM_001374736.1(DST):c.23360G>A (p.Arg7787Gln) | 667 | DST | Uncertain significance | -1 | RCV002015617; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323900 | 56323900 | C | T | 56323900 | - | | | NM_001374736.1(DST):c.23334C>G (p.Val7778=) | 667 | DST | Likely benign | -1 | RCV001428407; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56323926 | 56323926 | G | C | 56323926 | - | | | NM_001374736.1(DST):c.23321A>C (p.Asp7774Ala) | 667 | DST | Uncertain significance | -1 | RCV001887913; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56323939 | 56323939 | T | G | 56323939 | - | | | NM_001374736.1(DST):c.23311G>A (p.Val7771Met) | 667 | DST | Uncertain significance | -1 | RCV001359472; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56323949 | 56323949 | C | T | 56323949 | - | | | NM_001374736.1(DST):c.23310C>T (p.Ser7770=) | 667 | DST | Likely benign | -1 | RCV001448604; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323950 | 56323950 | G | A | 56323950 | - | | | NM_001374736.1(DST):c.23264G>A (p.Arg7755His) | 667 | DST | Uncertain significance | -1 | RCV002004676; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56323996 | 56323996 | C | T | 56323996 | - | | | NM_001374736.1(DST):c.23263C>T (p.Arg7755Cys) | 667 | DST | Uncertain significance | rs868335418 | RCV001307740; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56323997 | 56323997 | G | A | 56323997 | - | | | NM_001374736.1(DST):c.23250C>T (p.Ser7750=) | 667 | DST | Likely benign | -1 | RCV002181469; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324010 | 56324010 | G | A | 56324010 | - | | | NM_001374736.1(DST):c.23234G>A (p.Gly7745Glu) | 667 | DST | Uncertain significance | -1 | RCV001968665; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324026 | 56324026 | C | T | 56324026 | - | | | NM_001374736.1(DST):c.23228G>A (p.Arg7743Gln) | 667 | DST | Uncertain significance | rs762220017 | RCV001244951|RCV001357327; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN169374 | 6 | 56324032 | 56324032 | C | T | 6:g.56324032C>T | - | | | NM_001374736.1(DST):c.23220A>T (p.Pro7740=) | 667 | DST | Likely benign | -1 | RCV001435076; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324040 | 56324040 | T | A | 56324040 | - | | | NM_001374736.1(DST):c.23205G>T (p.Lys7735Asn) | 667 | DST | Uncertain significance | rs1476392770 | RCV001245796; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324055 | 56324055 | C | A | 6:g.56324055C>A | - | | | NM_001374736.1(DST):c.23201A>T (p.Lys7734Met) | 667 | DST | Uncertain significance | rs1168581623 | RCV001248043; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324059 | 56324059 | T | A | 6:g.56324059T>A | - | | | NM_001374736.1(DST):c.23195A>T (p.Asp7732Val) | 667 | DST | Uncertain significance | rs2094197198 | RCV001241870; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324065 | 56324065 | T | A | 6:g.56324065T>A | - | | | NM_001374736.1(DST):c.23195-8T>C | 667 | DST | Likely benign | -1 | RCV001419149; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324073 | 56324073 | A | G | 56324073 | - | | | NM_001374736.1(DST):c.23194+19T>A | 667 | DST | Likely benign | -1 | RCV002190947; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324910 | 56324910 | A | T | 56324910 | - | | | NM_001374736.1(DST):c.23187G>A (p.Gln7729=) | 667 | DST | Benign | -1 | RCV001514458; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324936 | 56324936 | C | T | 56324936 | - | | | NM_001374736.1(DST):c.23183C>T (p.Thr7728Ile) | 667 | DST | Uncertain significance | -1 | RCV001365782; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56324940 | 56324940 | G | A | 56324940 | - | | | NM_001374736.1(DST):c.23173A>G (p.Arg7725Gly) | 667 | DST | Uncertain significance | -1 | RCV001969614; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324950 | 56324950 | T | C | 56324950 | - | | | NM_001374736.1(DST):c.23141A>C (p.Glu7714Ala) | 667 | DST | Uncertain significance | -1 | RCV002023189; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56324982 | 56324982 | T | G | 56324982 | - | | | NM_001374736.1(DST):c.23094G>A (p.Lys7698=) | 667 | DST | Likely benign | -1 | RCV001422114; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56325029 | 56325029 | C | T | 56325029 | - | | | NM_001374736.1(DST):c.23093A>G (p.Lys7698Arg) | 667 | DST | Uncertain significance | rs2094258869 | RCV001239928; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56325030 | 56325030 | T | C | 6:g.56325030T>C | - | | | NM_001374736.1(DST):c.23090G>A (p.Ser7697Asn) | 667 | DST | Uncertain significance | rs1337269536 | RCV001347750; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56325033 | 56325033 | C | T | 56325033 | - | | | NM_001374736.1(DST):c.23079A>G (p.Pro7693=) | 667 | DST | Likely benign | -1 | RCV001418027; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56325044 | 56325044 | T | C | 56325044 | - | | | NM_001374736.1(DST):c.23076G>A (p.Thr7692=) | 667 | DST | Likely benign | -1 | RCV001490647; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56325047 | 56325047 | C | T | 56325047 | - | | | NM_001374736.1(DST):c.23075C>T (p.Thr7692Met) | 667 | DST | Uncertain significance | -1 | RCV001924304; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56325048 | 56325048 | G | A | 56325048 | - | | | NM_001374736.1(DST):c.23071-2A>G | 667 | DST | Likely pathogenic | -1 | RCV001976172; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56325054 | 56325054 | T | C | 56325054 | - | | | NM_001374736.1(DST):c.23071-18G>A | 667 | DST | Likely benign | -1 | RCV002167555; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56325070 | 56325070 | C | T | 56325070 | - | | | NM_001374736.1(DST):c.23070+7T>G | 667 | DST | Likely benign | -1 | RCV002157630; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327837 | 56327837 | A | C | 56327837 | - | | | NM_001374736.1(DST):c.23065G>A (p.Ala7689Thr) | 667 | DST | Benign | -1 | RCV001510452|RCV001664907|RCV001664906; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143 | 6 | 56327849 | 56327849 | C | T | 56327849 | - | | | NM_001374736.1(DST):c.23061A>T (p.Pro7687=) | 667 | DST | Likely benign | -1 | RCV001451925; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327853 | 56327853 | T | A | 56327853 | - | | | NM_001374736.1(DST):c.23058G>A (p.Val7686=) | 667 | DST | Benign/Likely benign | -1 | RCV001510454|RCV001732192; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56327856 | 56327856 | C | T | 56327856 | - | | | NM_001374736.1(DST):c.23056G>A (p.Val7686Met) | 667 | DST | Uncertain significance | rs774799170 | RCV000803193; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327858 | 56327858 | C | T | 6:g.56327858C>T | - | | | NM_001374736.1(DST):c.23055C>T (p.Pro7685=) | 667 | DST | Likely benign | rs201991278 | RCV000979603; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327859 | 56327859 | G | A | 6:g.56327859G>A | - | | | NM_001374736.1(DST):c.23035G>T (p.Ala7679Ser) | 667 | DST | Conflicting interpretations of pathogenicity | rs201138592 | RCV000578982|RCV000980803; | N | MedGen:CN169374|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327879 | 56327879 | C | A | 6:g.56327879C>A | ClinGen:CA3866063 | CN169374 not specified; | | NM_001374736.1(DST):c.23025T>C (p.Pro7675=) | 667 | DST | Likely benign | -1 | RCV002198289; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56327889 | 56327889 | A | G | 56327889 | - | | | NM_001374736.1(DST):c.23022T>A (p.Thr7674=) | 667 | DST | Likely benign | -1 | RCV001405651; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327892 | 56327892 | A | T | 56327892 | - | | | NM_001374736.1(DST):c.23016G>A (p.Met7672Ile) | 667 | DST | Uncertain significance | -1 | RCV001924415; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56327898 | 56327898 | C | T | 56327898 | - | | | NM_001374736.1(DST):c.23015T>C (p.Met7672Thr) | 667 | DST | Uncertain significance | rs751377992 | RCV001342824; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56327899 | 56327899 | A | G | 56327899 | - | | | NM_001374736.1(DST):c.22997G>C (p.Trp7666Ser) | 667 | DST | Uncertain significance | rs1035396080 | RCV001239035; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327917 | 56327917 | C | G | 6:g.56327917C>G | - | | | NM_001374736.1(DST):c.22993C>G (p.Pro7665Ala) | 667 | DST | Uncertain significance | -1 | RCV001986538; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327921 | 56327921 | G | C | 56327921 | - | | | NM_001374736.1(DST):c.22987G>T (p.Gly7663Cys) | 667 | DST | Uncertain significance | rs1426250382 | RCV001239804; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327927 | 56327927 | C | A | 6:g.56327927C>A | - | | | NM_001374736.1(DST):c.22982A>G (p.Asn7661Ser) | 667 | DST | Uncertain significance | -1 | RCV001992722; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56327932 | 56327932 | T | C | 56327932 | - | | | NM_001374736.1(DST):c.22979G>A (p.Arg7660His) | 667 | DST | Uncertain significance | rs746310021 | RCV000822745; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56327935 | 56327935 | C | T | 6:g.56327935C>T | - | | | NM_001374736.1(DST):c.22978C>T (p.Arg7660Cys) | 667 | DST | Uncertain significance | -1 | RCV001949891; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327936 | 56327936 | G | A | 56327936 | - | | | NM_001374736.1(DST):c.22964T>C (p.Leu7655Pro) | 667 | DST | Uncertain significance | rs375019954 | RCV001248466; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327950 | 56327950 | A | G | 6:g.56327950A>G | - | | | NM_001374736.1(DST):c.22963C>T (p.Leu7655Phe) | 667 | DST | Uncertain significance | -1 | RCV001363464; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56327951 | 56327951 | G | A | 56327951 | - | | | NM_001374736.1(DST):c.22960-8C>T | 667 | DST | Likely benign | -1 | RCV002129484; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56327962 | 56327962 | G | A | 56327962 | - | | | NM_001374736.1(DST):c.22959+3A>G | 667 | DST | Uncertain significance | rs375303601 | RCV001239595|RCV001699523; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56328360 | 56328360 | T | C | 6:g.56328360T>C | - | | | NM_001374736.1(DST):c.22959+1G>A | 667 | DST | Likely pathogenic | rs2094441686 | RCV001241867; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328362 | 56328362 | C | T | 6:g.56328362C>T | - | | | NM_001374736.1(DST):c.22955C>T (p.Pro7652Leu) | 667 | DST | Uncertain significance | -1 | RCV001371560; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328367 | 56328367 | G | A | 56328367 | - | | | NM_001374736.1(DST):c.22950C>A (p.Thr7650=) | 667 | DST | Likely benign | -1 | RCV002085724; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328372 | 56328372 | G | T | 56328372 | - | | | NM_001374736.1(DST):c.22939C>T (p.Pro7647Ser) | 667 | DST | Uncertain significance | rs201952309 | RCV001241383; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328383 | 56328383 | G | A | 6:g.56328383G>A | - | | | NM_001374736.1(DST):c.22934A>T (p.Gln7645Leu) | 667 | DST | Uncertain significance | rs2094442685 | RCV001339140; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328388 | 56328388 | T | A | 56328388 | - | | | NM_001374736.1(DST):c.22932A>C (p.Pro7644=) | 667 | DST | Benign | rs374094129 | RCV000981885; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328390 | 56328390 | T | G | 6:g.56328390T>G | - | | | NM_001374736.1(DST):c.22922C>T (p.Ala7641Val) | 667 | DST | Uncertain significance | rs750916776 | RCV001299771; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328400 | 56328400 | G | A | 56328400 | - | | | NM_001374736.1(DST):c.22917G>A (p.Ala7639=) | 667 | DST | Likely benign | -1 | RCV001435550; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328405 | 56328405 | C | T | 56328405 | - | | | NM_001374736.1(DST):c.22916C>T (p.Ala7639Val) | 667 | DST | Conflicting interpretations of pathogenicity | rs201429821 | RCV000979588|RCV001081929; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328406 | 56328406 | G | A | 6:g.56328406G>A | - | | | NM_001374736.1(DST):c.22896T>C (p.Thr7632=) | 667 | DST | Benign/Likely benign | rs200781365 | RCV000979093|RCV001699496; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56328426 | 56328426 | A | G | 6:g.56328426A>G | - | | | NM_001374736.1(DST):c.22893C>T (p.Ser7631=) | 667 | DST | Likely benign | -1 | RCV001465132; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328429 | 56328429 | G | A | 56328429 | - | | | NM_001374736.1(DST):c.22886A>G (p.Asn7629Ser) | 667 | DST | Uncertain significance | rs1270972086 | RCV001239513; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328436 | 56328436 | T | C | 6:g.56328436T>C | - | | | NM_001374736.1(DST):c.22875C>A (p.Gly7625=) | 667 | DST | Likely benign | -1 | RCV002150875; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328447 | 56328447 | G | T | 56328447 | - | | | NM_001374736.1(DST):c.22863A>C (p.Pro7621=) | 667 | DST | Likely benign | -1 | RCV002111511; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328459 | 56328459 | T | G | 56328459 | - | | | NM_001374736.1(DST):c.22857C>G (p.Ser7619=) | 667 | DST | Likely benign | -1 | RCV001431543; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328465 | 56328465 | G | C | 56328465 | - | | | NM_001374736.1(DST):c.22849C>G (p.Arg7617Gly) | 667 | DST | Uncertain significance | rs2094446184 | RCV001301383; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328473 | 56328473 | G | C | 56328473 | - | | | NM_001374736.1(DST):c.22844G>A (p.Arg7615Gln) | 667 | DST | Uncertain significance | -1 | RCV001369142; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328478 | 56328478 | C | T | 56328478 | - | | | NM_001374736.1(DST):c.22843C>T (p.Arg7615Ter) | 667 | DST | Pathogenic | rs948596983 | RCV001247773; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328479 | 56328479 | G | A | 6:g.56328479G>A | - | | | NM_001374736.1(DST):c.22838G>A (p.Arg7613Gln) | 667 | DST | Uncertain significance | -1 | RCV001988899; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328484 | 56328484 | C | T | 56328484 | - | | | NM_001374736.1(DST):c.22826T>C (p.Met7609Thr) | 667 | DST | Uncertain significance | -1 | RCV001926393; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328496 | 56328496 | A | G | 56328496 | - | | | NM_001374736.1(DST):c.22822G>T (p.Gly7608Cys) | 667 | DST | Uncertain significance | rs753485138 | RCV001335760|RCV001242889; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328500 | 56328500 | C | A | 6:g.56328500C>A | - | | | NM_001374736.1(DST):c.22811G>A (p.Gly7604Asp) | 667 | DST | Uncertain significance | -1 | RCV001947790; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328511 | 56328511 | C | T | 56328511 | - | | | NM_001374736.1(DST):c.22805C>T (p.Ala7602Val) | 667 | DST | Uncertain significance | rs375687689 | RCV001242957; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328517 | 56328517 | G | A | 6:g.56328517G>A | - | | | NM_001374736.1(DST):c.22798A>G (p.Ile7600Val) | 667 | DST | Uncertain significance | -1 | RCV001944571; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328524 | 56328524 | T | C | 56328524 | - | | | NM_001374736.1(DST):c.22787G>A (p.Arg7596His) | 667 | DST | Uncertain significance | rs746750215 | RCV001240859; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56328535 | 56328535 | C | T | 6:g.56328535C>T | - | | | NM_001374736.1(DST):c.22786C>T (p.Arg7596Cys) | 667 | DST | Uncertain significance | -1 | RCV002003242; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328536 | 56328536 | G | A | 56328536 | - | | | NM_001374736.1(DST):c.22764A>G (p.Lys7588=) | 667 | DST | Likely benign | -1 | RCV001394181; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56328558 | 56328558 | T | C | 56328558 | - | | | NM_001374736.1(DST):c.22720G>T (p.Glu7574Ter) | 667 | DST | Pathogenic | -1 | RCV001775447; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56329522 | 56329522 | C | A | 56329522 | - | | | NM_001374736.1(DST):c.22687+18A>G | 667 | DST | Likely benign | -1 | RCV002107758; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56330858 | 56330858 | T | C | 56330858 | - | | | NM_001374736.1(DST):c.22687+15A>C | 667 | DST | Benign | -1 | RCV002185765; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56330861 | 56330861 | T | G | 56330861 | - | | | NC_000006.11:g.56330866-?_56331003+?del | 667 | DST | Pathogenic | -1 | RCV001390146; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56330866 | 56330866 | na | na | -1 | - | | | NM_001374736.1(DST):c.22642T>A (p.Trp7548Arg) | 667 | DST | Uncertain significance | rs2094566911 | RCV001304824; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56330921 | 56330921 | A | T | 56330921 | - | | | NM_001374736.1(DST):c.22601G>A (p.Arg7534Gln) | 667 | DST | Uncertain significance | rs1255175152 | RCV001243300; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56330962 | 56330962 | C | T | 6:g.56330962C>T | - | | | NM_001374736.1(DST):c.22593A>T (p.Arg7531=) | 667 | DST | Likely benign | -1 | RCV001488991; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56330970 | 56330970 | T | A | 56330970 | - | | | NM_001374736.1(DST):c.22593A>G (p.Arg7531=) | 667 | DST | Likely benign | -1 | RCV002115423; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56330970 | 56330970 | T | C | 56330970 | - | | | NM_001374736.1(DST):c.22584G>A (p.Gln7528=) | 667 | DST | Likely benign | -1 | RCV002196485; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56330979 | 56330979 | C | T | 56330979 | - | | | NM_001374736.1(DST):c.22570-4A>G | 667 | DST | Uncertain significance | rs199834581 | RCV000804073; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56330997 | 56330997 | T | C | 6:g.56330997T>C | - | | | NM_001374736.1(DST):c.22570-17C>G | 667 | DST | Benign | -1 | RCV002118134; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56331010 | 56331010 | G | C | 56331010 | - | | | NM_001374736.1(DST):c.22558C>T (p.Leu7520=) | 667 | DST | Likely benign | -1 | RCV002161740; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56333791 | 56333791 | G | A | 56333791 | - | | | NM_001374736.1(DST):c.22551+16A>G | 667 | DST | Likely benign | -1 | RCV002144748; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56334665 | 56334665 | T | C | 56334665 | - | | | NM_001374736.1(DST):c.22551+8T>C | 667 | DST | Likely benign | -1 | RCV001470711; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334673 | 56334673 | A | G | 56334673 | - | | | NM_001374736.1(DST):c.22530G>C (p.Gln7510His) | 667 | DST | Uncertain significance | rs750236520 | RCV001242697; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56334702 | 56334702 | C | G | 6:g.56334702C>G | - | | | NM_001374736.1(DST):c.22484G>T (p.Arg7495Met) | 667 | DST | Uncertain significance | -1 | RCV001933675; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334748 | 56334748 | C | A | 56334748 | - | | | NM_001374736.1(DST):c.22477-14A>G | 667 | DST | Likely benign | -1 | RCV002084279; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334769 | 56334769 | T | C | 56334769 | - | | | NM_001374736.1(DST):c.22476+1G>A | 667 | DST | Likely pathogenic | -1 | RCV002021742; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56334925 | 56334925 | C | T | 56334925 | - | | | NM_001374736.1(DST):c.22470A>G (p.Glu7490=) | 667 | DST | Likely benign | -1 | RCV002120260; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56334932 | 56334932 | T | C | 56334932 | - | | | NM_001374736.1(DST):c.22467C>T (p.Ile7489=) | 667 | DST | Likely benign | -1 | RCV001398630; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334935 | 56334935 | G | A | 56334935 | - | | | NM_001374736.1(DST):c.22458C>T (p.Ala7486=) | 667 | DST | Likely benign | rs554828969 | RCV000979884; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334944 | 56334944 | G | A | 6:g.56334944G>A | - | | | NM_001374736.1(DST):c.22455T>C (p.Asp7485=) | 667 | DST | Likely benign | -1 | RCV001440621; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334947 | 56334947 | A | G | 56334947 | - | | | NM_001374736.1(DST):c.22429A>G (p.Lys7477Glu) | 667 | DST | Uncertain significance | -1 | RCV001989195; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334973 | 56334973 | T | C | 56334973 | - | | | NM_001374736.1(DST):c.22413A>C (p.Ala7471=) | 667 | DST | Likely benign | -1 | RCV001490198; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56334989 | 56334989 | T | G | 56334989 | - | | | NM_001374736.1(DST):c.22383T>A (p.Asp7461Glu) | 667 | DST | Uncertain significance | -1 | RCV001892906; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335019 | 56335019 | A | T | 56335019 | - | | | NM_001374736.1(DST):c.22380C>T (p.Gly7460=) | 667 | DST | Uncertain significance | -1 | RCV001935565; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335022 | 56335022 | G | A | 56335022 | - | | | NM_001374736.1(DST):c.22377T>C (p.Asp7459=) | 667 | DST | Likely benign | -1 | RCV002102523; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335025 | 56335025 | A | G | 56335025 | - | | | NM_001374736.1(DST):c.22363A>G (p.Ile7455Val) | 667 | DST | Uncertain significance | -1 | RCV001931362; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56335039 | 56335039 | T | C | 56335039 | - | | | NM_001374736.1(DST):c.22359A>C (p.Ala7453=) | 667 | DST | Likely benign | -1 | RCV002199346; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56335043 | 56335043 | T | G | 56335043 | - | | | NM_001374736.1(DST):c.22351G>A (p.Ala7451Thr) | 667 | DST | Uncertain significance | -1 | RCV001995705; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335051 | 56335051 | C | T | 56335051 | - | | | NM_001374736.1(DST):c.22350C>T (p.Ser7450=) | 667 | DST | Likely benign | -1 | RCV002104631; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56335052 | 56335052 | G | A | 56335052 | - | | | NM_001374736.1(DST):c.22338C>T (p.Arg7446=) | 667 | DST | Likely benign | -1 | RCV002183068; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335064 | 56335064 | G | A | 56335064 | - | | | NM_001374736.1(DST):c.22337G>A (p.Arg7446His) | 667 | DST | Uncertain significance | rs768427386 | RCV001241058; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56335065 | 56335065 | C | T | 6:g.56335065C>T | - | | | NM_001374736.1(DST):c.22322-20C>T | 667 | DST | Likely benign | -1 | RCV002209946; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56335100 | 56335100 | G | A | 56335100 | - | | | NM_001374736.1(DST):c.22321+13A>G | 667 | DST | Benign | -1 | RCV002129798; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56335891 | 56335891 | T | C | 56335891 | - | | | NM_001374736.1(DST):c.22318T>A (p.Ser7440Thr) | 667 | DST | Uncertain significance | -1 | RCV002010601; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335907 | 56335907 | A | T | 56335907 | - | | | NM_001374736.1(DST):c.22312C>A (p.Leu7438Ile) | 667 | DST | Uncertain significance | -1 | RCV001905866; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56335913 | 56335913 | G | T | 56335913 | - | | | NM_001374736.1(DST):c.22305T>C (p.Asp7435=) | 667 | DST | Benign/Likely benign | rs114094997 | RCV000979025|RCV001766801; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56335920 | 56335920 | A | G | 6:g.56335920A>G | - | | | NM_001374736.1(DST):c.22288C>T (p.Arg7430Trp) | 667 | DST | Uncertain significance | -1 | RCV001362450; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56335937 | 56335937 | G | A | 56335937 | - | | | NM_001374736.1(DST):c.22287G>A (p.Thr7429=) | 667 | DST | Likely benign | -1 | RCV001460946; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335938 | 56335938 | C | T | 56335938 | - | | | NM_001374736.1(DST):c.22286C>T (p.Thr7429Met) | 667 | DST | Uncertain significance | -1 | RCV001925517; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335939 | 56335939 | G | A | 56335939 | - | | | NM_001374736.1(DST):c.22251C>T (p.Phe7417=) | 667 | DST | Likely benign | -1 | RCV001446879; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56335974 | 56335974 | G | A | 56335974 | - | | | NM_001374736.1(DST):c.22248C>T (p.Phe7416=) | 667 | DST | Likely benign | -1 | RCV001450492; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56335977 | 56335977 | G | A | 56335977 | - | | | NM_001374736.1(DST):c.22195C>T (p.Arg7399Cys) | 667 | DST | Likely benign | -1 | RCV001408343; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336030 | 56336030 | G | A | 56336030 | - | | | NM_001374736.1(DST):c.22171G>A (p.Ala7391Thr) | 667 | DST | Uncertain significance | rs772254325 | RCV001307541; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336054 | 56336054 | C | T | 56336054 | - | | | NM_001374736.1(DST):c.22171G>T (p.Ala7391Ser) | 667 | DST | Uncertain significance | -1 | RCV001373630; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336054 | 56336054 | C | A | 56336054 | - | | | NM_001374736.1(DST):c.22164G>T (p.Arg7388Ser) | 667 | DST | Uncertain significance | -1 | RCV001950706; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336061 | 56336061 | C | A | 56336061 | - | | | NM_001374736.1(DST):c.22134T>C (p.Asn7378=) | 667 | DST | Likely benign | -1 | RCV001432895; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56336881 | 56336881 | A | G | 56336881 | - | | | NM_001374736.1(DST):c.22133A>G (p.Asn7378Ser) | 667 | DST | Uncertain significance | rs763569325 | RCV001248119; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56336882 | 56336882 | T | C | 6:g.56336882T>C | - | | | NM_001374736.1(DST):c.22131C>T (p.Leu7377=) | 667 | DST | Likely benign | -1 | RCV002131010; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336884 | 56336884 | G | A | 56336884 | - | | | NM_001374736.1(DST):c.22121G>A (p.Arg7374Lys) | 667 | DST | Uncertain significance | rs2094926732 | RCV001240992; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56336894 | 56336894 | C | T | 6:g.56336894C>T | - | | | NM_001374736.1(DST):c.22119A>G (p.Arg7373=) | 667 | DST | Benign | rs192453671 | RCV000979598; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56336896 | 56336896 | T | C | 6:g.56336896T>C | - | | | NM_001374736.1(DST):c.22110G>A (p.Ala7370=) | 667 | DST | Likely benign | -1 | RCV002127064; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56336905 | 56336905 | C | T | 56336905 | - | | | NM_001374736.1(DST):c.22069A>G (p.Asn7357Asp) | 667 | DST | Uncertain significance | rs2094927912 | RCV001323012; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56336946 | 56336946 | T | C | 56336946 | - | | | NM_001374736.1(DST):c.22057A>G (p.Asn7353Asp) | 667 | DST | Uncertain significance | rs371310558 | RCV001242501; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56336958 | 56336958 | T | C | 6:g.56336958T>C | - | | | NM_001374736.1(DST):c.22016G>C (p.Ser7339Thr) | 667 | DST | Uncertain significance | -1 | RCV002039786; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56336999 | 56336999 | C | G | 56336999 | - | | | NM_001374736.1(DST):c.22005_22006insAT (p.Pro7336fs) | 667 | DST | Pathogenic | rs2094929531 | RCV001245997; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56337009 | 56337010 | G | GAT | 6:g.56337009_56337010insAT | - | | | NM_001374736.1(DST):c.22000C>T (p.Arg7334Cys) | 667 | DST | Uncertain significance | rs769938845 | RCV001248117; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56337015 | 56337015 | G | A | 6:g.56337015G>A | - | | | NM_001374736.1(DST):c.21999A>C (p.Lys7333Asn) | 667 | DST | Uncertain significance | -1 | RCV001973244; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56337016 | 56337016 | T | G | 56337016 | - | | | NM_001374736.1(DST):c.21995-18G>C | 667 | DST | Benign | -1 | RCV002118115; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56337038 | 56337038 | C | G | 56337038 | - | | | NM_001374736.1(DST):c.21995-18G>A | 667 | DST | Benign | -1 | RCV002122467; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56337038 | 56337038 | C | T | 56337038 | - | | | NM_001374736.1(DST):c.21992G>A (p.Gly7331Glu) | 667 | DST | Uncertain significance | rs781156041 | RCV001240219; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338673 | 56338673 | C | T | 6:g.56338673C>T | - | | | NM_001374736.1(DST):c.21985C>T (p.Arg7329Ter) | 667 | DST | Pathogenic | -1 | RCV001994750; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338680 | 56338680 | G | A | 56338680 | - | | | NM_001374736.1(DST):c.21972C>T (p.Val7324=) | 667 | DST | Likely benign | -1 | RCV001411957; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338693 | 56338693 | G | A | 56338693 | - | | | NM_001374736.1(DST):c.21955C>G (p.Gln7319Glu) | 667 | DST | Uncertain significance | rs749377991 | RCV001239660; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338710 | 56338710 | G | C | 6:g.56338710G>C | - | | | NM_001374736.1(DST):c.21951A>G (p.Ser7317=) | 667 | DST | Likely benign | rs1306326928 | RCV000982789|RCV001505084; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338714 | 56338714 | T | C | 6:g.56338714T>C | - | | | NM_001374736.1(DST):c.21943C>T (p.Pro7315Ser) | 667 | DST | Uncertain significance | -1 | RCV001927551; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338722 | 56338722 | G | A | 56338722 | - | | | NM_001374736.1(DST):c.21915G>A (p.Thr7305=) | 667 | DST | Likely benign | -1 | RCV001487210; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56338750 | 56338750 | C | T | 56338750 | - | | | NM_001374736.1(DST):c.21885C>T (p.Thr7295=) | 667 | DST | Likely benign | -1 | RCV001496768; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56338780 | 56338780 | G | A | 56338780 | - | | | NM_001374736.1(DST):c.21875A>T (p.Glu7292Val) | 667 | DST | Uncertain significance | -1 | RCV002047870; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56338790 | 56338790 | T | A | 56338790 | - | | | NM_001374736.1(DST):c.21865-20C>T | 667 | DST | Likely benign | -1 | RCV002105259; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56338820 | 56338820 | G | A | 56338820 | - | | | NM_001374736.1(DST):c.21864+13T>A | 667 | DST | Likely benign | -1 | RCV002156608; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56340934 | 56340934 | A | T | 56340934 | - | | | NC_000006.11:g.(?_56340937)_(56342296_?)del | 667 | DST | Uncertain significance | -1 | RCV001916462; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56340937 | 56342296 | na | na | -1 | - | | | NM_001374736.1(DST):c.21864+7T>C | 667 | DST | Likely benign | -1 | RCV001426327; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56340940 | 56340940 | A | G | 56340940 | - | | | NM_001374736.1(DST):c.21862C>T (p.Gln7288Ter) | 667 | DST | Pathogenic | -1 | RCV001895286; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340949 | 56340949 | G | A | 56340949 | - | | | NM_001374736.1(DST):c.21858A>G (p.Glu7286=) | 667 | DST | Likely benign | -1 | RCV002213296; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340953 | 56340953 | T | C | 56340953 | - | | | NM_001374736.1(DST):c.21832G>A (p.Glu7278Lys) | 667 | DST | Uncertain significance | rs751149116 | RCV001313676; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340979 | 56340979 | C | T | 56340979 | - | | | NM_001374736.1(DST):c.21830T>C (p.Ile7277Thr) | 667 | DST | Uncertain significance | -1 | RCV001912413; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340981 | 56340981 | A | G | 56340981 | - | | | NM_001374736.1(DST):c.21824A>C (p.Gln7275Pro) | 667 | DST | Uncertain significance | rs2095181390 | RCV001317820; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340987 | 56340987 | T | G | 56340987 | - | | | NM_001374736.1(DST):c.21821C>G (p.Pro7274Arg) | 667 | DST | Uncertain significance | rs1250221052 | RCV001245433; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56340990 | 56340990 | G | C | 6:g.56340990G>C | - | | | NM_001374736.1(DST):c.21814G>A (p.Val7272Ile) | 667 | DST | Uncertain significance | rs767613702 | RCV001240068; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340997 | 56340997 | C | T | 6:g.56340997C>T | - | | | NM_001374736.1(DST):c.21814G>C (p.Val7272Leu) | 667 | DST | Uncertain significance | -1 | RCV001955059; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56340997 | 56340997 | C | G | 56340997 | - | | | NM_001374736.1(DST):c.21793C>T (p.Leu7265Phe) | 667 | DST | Uncertain significance | rs1757751702 | RCV001345203; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341018 | 56341018 | G | A | 56341018 | - | | | NM_001374736.1(DST):c.21756del (p.Ala7253fs) | 667 | DST | Pathogenic | rs398122819 | RCV000024316|RCV001552535; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56341055 | 56341055 | CT | C | 6:g.56341055_56341055del | ClinGen:CA281107,OMIM:113810.0001 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.21733A>G (p.Ile7245Val) | 667 | DST | Uncertain significance | rs2095184213 | RCV001245859; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56341078 | 56341078 | T | C | 6:g.56341078T>C | - | | | NM_001374736.1(DST):c.21724G>T (p.Ala7242Ser) | 667 | DST | Uncertain significance | -1 | RCV001937410; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56341087 | 56341087 | C | A | 56341087 | - | | | NM_001374736.1(DST):c.21717T>C (p.Ser7239=) | 667 | DST | Likely benign | -1 | RCV002194344; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56341094 | 56341094 | A | G | 56341094 | - | | | NM_001374736.1(DST):c.21689C>T (p.Ala7230Val) | 667 | DST | Uncertain significance | -1 | RCV001363799; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341122 | 56341122 | G | A | 56341122 | - | | | NM_001374736.1(DST):c.21678G>A (p.Val7226=) | 667 | DST | Uncertain significance | -1 | RCV001364675; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341133 | 56341133 | C | T | 56341133 | - | | | NM_001374736.1(DST):c.21676-6T>C | 667 | DST | Likely benign | -1 | RCV002192367; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341141 | 56341141 | A | G | 56341141 | - | | | NM_001374736.1(DST):c.21676-9C>T | 667 | DST | Likely benign | -1 | RCV001411469; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56341144 | 56341144 | G | A | 56341144 | - | | | NM_001374736.1(DST):c.21676-15_21676-14del | 667 | DST | Benign | -1 | RCV001699837|RCV002073261; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56341149 | 56341150 | CAG | C | 56341148 | - | | | NM_001374736.1(DST):c.21675+10T>A | 667 | DST | Likely benign | -1 | RCV001438795; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342133 | 56342133 | A | T | 56342133 | - | | | NM_001374736.1(DST):c.21675+7G>A | 667 | DST | Benign/Likely benign | -1 | RCV001514391|RCV001732197; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56342136 | 56342136 | C | T | 56342136 | - | | | NM_001374736.1(DST):c.21675+4A>G | 667 | DST | Uncertain significance | rs2095243185 | RCV001243704; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342139 | 56342139 | T | C | 6:g.56342139T>C | - | | | NM_001374736.1(DST):c.21662C>T (p.Ala7221Val) | 667 | DST | Uncertain significance | rs376556021 | RCV001246191; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342156 | 56342156 | G | A | 6:g.56342156G>A | - | | | NM_001374736.1(DST):c.21659G>A (p.Arg7220Gln) | 667 | DST | Uncertain significance | rs765541556 | RCV001296137; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342159 | 56342159 | C | T | 56342159 | - | | | NM_001374736.1(DST):c.21658C>T (p.Arg7220Trp) | 667 | DST | Uncertain significance | -1 | RCV001926883; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342160 | 56342160 | G | A | 56342160 | - | | | NM_001374736.1(DST):c.21636T>G (p.Ile7212Met) | 667 | DST | Uncertain significance | -1 | RCV002012961; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342182 | 56342182 | A | C | 56342182 | - | | | NM_001374736.1(DST):c.21631A>G (p.Thr7211Ala) | 667 | DST | Uncertain significance | rs2095244412 | RCV001247636; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342187 | 56342187 | T | C | 6:g.56342187T>C | - | | | NM_001374736.1(DST):c.21627C>G (p.Ile7209Met) | 667 | DST | Uncertain significance | rs2095244497 | RCV001247775; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342191 | 56342191 | G | C | 6:g.56342191G>C | - | | | NM_001374736.1(DST):c.21626T>C (p.Ile7209Thr) | 667 | DST | Uncertain significance | -1 | RCV002013253; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342192 | 56342192 | A | G | 56342192 | - | | | NM_001374736.1(DST):c.21618C>T (p.Pro7206=) | 667 | DST | Likely benign | -1 | RCV001481018; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342200 | 56342200 | G | A | 56342200 | - | | | NM_001374736.1(DST):c.21618C>G (p.Pro7206=) | 667 | DST | Likely benign | -1 | RCV002103249; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342200 | 56342200 | G | C | 56342200 | - | | | NM_001374736.1(DST):c.21598G>A (p.Val7200Ile) | 667 | DST | Uncertain significance | rs760700573 | RCV001241530; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342220 | 56342220 | C | T | 6:g.56342220C>T | - | | | NM_001374736.1(DST):c.21595A>G (p.Thr7199Ala) | 667 | DST | Uncertain significance | rs2095245434 | RCV001240922; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342223 | 56342223 | T | C | 6:g.56342223T>C | - | | | NM_001374736.1(DST):c.21591C>T (p.Gly7197=) | 667 | DST | Likely benign | -1 | RCV001465458; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342227 | 56342227 | G | A | 56342227 | - | | | NM_001374736.1(DST):c.21572A>G (p.Asn7191Ser) | 667 | DST | Uncertain significance | rs1310432337 | RCV001308011; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342246 | 56342246 | T | C | 56342246 | - | | | NM_001374736.1(DST):c.21570A>G (p.Leu7190=) | 667 | DST | Likely benign | -1 | RCV001414282; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56342248 | 56342248 | T | C | 56342248 | - | | | NM_001374736.1(DST):c.21538A>G (p.Met7180Val) | 667 | DST | Likely benign | rs200006386 | RCV001311719|RCV001400269; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56342280 | 56342280 | T | C | 56342280 | - | | | NM_001374736.1(DST):c.21531+11T>C | 667 | DST | Likely benign | -1 | RCV002188154; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346837 | 56346837 | A | G | 56346837 | - | | | NM_001374736.1(DST):c.21529A>G (p.Lys7177Glu) | 667 | DST | Uncertain significance | -1 | RCV001368426; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346850 | 56346850 | T | C | 56346850 | - | | | NM_001374736.1(DST):c.21518T>C (p.Ile7173Thr) | 667 | DST | Uncertain significance | -1 | RCV001889366; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346861 | 56346861 | A | G | 56346861 | - | | | NM_001374736.1(DST):c.21514C>G (p.Leu7172Val) | 667 | DST | Uncertain significance | rs1461679972 | RCV001308419; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346865 | 56346865 | G | C | 56346865 | - | | | NM_001374736.1(DST):c.21510G>A (p.Arg7170=) | 667 | DST | Likely benign | -1 | RCV002210662; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346869 | 56346869 | C | T | 56346869 | - | | | NM_001374736.1(DST):c.21509G>A (p.Arg7170Gln) | 667 | DST | Uncertain significance | rs201690182 | RCV001243563; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346870 | 56346870 | C | T | 6:g.56346870C>T | - | | | NM_001374736.1(DST):c.21503C>G (p.Ala7168Gly) | 667 | DST | Uncertain significance | rs201982383 | RCV001245367; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346876 | 56346876 | G | C | 6:g.56346876G>C | - | | | NM_001374736.1(DST):c.21500A>G (p.Asp7167Gly) | 667 | DST | Uncertain significance | rs1562272106 | RCV001248734; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346879 | 56346879 | T | C | 6:g.56346879T>C | - | | | NM_001374736.1(DST):c.21470G>A (p.Arg7157His) | 667 | DST | Uncertain significance | rs576138885 | RCV001244815; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346909 | 56346909 | C | T | 6:g.56346909C>T | - | | | NM_001374736.1(DST):c.21456G>A (p.Ala7152=) | 667 | DST | Likely benign | -1 | RCV001483480; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346923 | 56346923 | C | T | 56346923 | - | | | NM_001374736.1(DST):c.21455C>T (p.Ala7152Val) | 667 | DST | Uncertain significance | -1 | RCV001373385; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346924 | 56346924 | G | A | 56346924 | - | | | NM_001374736.1(DST):c.21448G>T (p.Ala7150Ser) | 667 | DST | Uncertain significance | rs1393774391 | RCV000821659; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346931 | 56346931 | C | A | 6:g.56346931C>A | - | | | NM_001374736.1(DST):c.21423G>A (p.Val7141=) | 667 | DST | Benign | rs201115435 | RCV000979040; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346956 | 56346956 | C | T | 6:g.56346956C>T | - | | | NM_001374736.1(DST):c.21421G>T (p.Val7141Leu) | 667 | DST | Uncertain significance | -1 | RCV001887612; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346958 | 56346958 | C | A | 56346958 | - | | | NM_001374736.1(DST):c.21420G>A (p.Ser7140=) | 667 | DST | Likely benign | -1 | RCV001436430; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346959 | 56346959 | C | T | 56346959 | - | | | NM_001374736.1(DST):c.21419C>T (p.Ser7140Leu) | 667 | DST | Uncertain significance | -1 | RCV001364018; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346960 | 56346960 | G | A | 56346960 | - | | | NM_001374736.1(DST):c.21408G>C (p.Glu7136Asp) | 667 | DST | Uncertain significance | -1 | RCV001935037; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346971 | 56346971 | C | G | 56346971 | - | | | NM_001374736.1(DST):c.21403-23TG[8] | 667 | DST | Likely benign | rs144810945 | RCV000980184|RCV001700683; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56346985 | 56346986 | T | TCA | 6:g.56346985_56346986insCA | - | | | NM_001374736.1(DST):c.21403-23TG[17] | 667 | DST | Likely benign | -1 | RCV001423009; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346985 | 56346986 | T | TCACACACACACACACACACA | 56346985 | - | | | NM_001374736.1(DST):c.21403-23TG[16] | 667 | DST | Likely benign | -1 | RCV001463627; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346985 | 56346986 | T | TCACACACACACACACACA | 56346985 | - | | | NM_001374736.1(DST):c.21403-23TG[20] | 667 | DST | Likely benign | -1 | RCV001472929; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346985 | 56346986 | T | TCACACACACACACACACACACACACA | 56346985 | - | | | NM_001374736.1(DST):c.21403-23TG[21] | 667 | DST | Likely benign | -1 | RCV001501064; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346985 | 56346986 | T | TCACACACACACACACACACACACACACA | 56346985 | - | | | NM_001374736.1(DST):c.21403-23TG[18] | 667 | DST | Benign | -1 | RCV001514455; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56346985 | 56346986 | T | TCACACACACACACACACACACA | 56346985 | - | | | NM_001374736.1(DST):c.21403-23TG[19] | 667 | DST | Benign/Likely benign | -1 | RCV001510455|RCV001732193; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56346985 | 56346986 | T | TCACACACACACACACACACACACA | 56346985 | - | | | NM_001374736.1(DST):c.21403-23TG[6] | 667 | DST | Benign | -1 | RCV002122650; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56346986 | 56346987 | TCA | T | 56346985 | - | | | NM_001374736.1(DST):c.21402+12G>C | 667 | DST | Likely benign | -1 | RCV002208324; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347469 | 56347469 | C | G | 56347469 | - | | | NM_001374736.1(DST):c.21398G>A (p.Arg7133His) | 667 | DST | Uncertain significance | -1 | RCV002004605; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347485 | 56347485 | C | T | 56347485 | - | | | NM_001374736.1(DST):c.21397C>T (p.Arg7133Cys) | 667 | DST | Uncertain significance | rs1465520965 | RCV001247972; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347486 | 56347486 | G | A | 6:g.56347486G>A | - | | | NM_001374736.1(DST):c.21379C>T (p.Arg7127Trp) | 667 | DST | Uncertain significance | -1 | RCV001365517; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347504 | 56347504 | G | A | 56347504 | - | | | NM_001374736.1(DST):c.21364A>G (p.Ile7122Val) | 667 | DST | Uncertain significance | rs201703299 | RCV001243168; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347519 | 56347519 | T | C | 6:g.56347519T>C | - | | | NM_001374736.1(DST):c.21349G>A (p.Val7117Met) | 667 | DST | Uncertain significance | -1 | RCV001951970; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347534 | 56347534 | C | T | 56347534 | - | | | NM_001374736.1(DST):c.21348C>T (p.Thr7116=) | 667 | DST | Likely benign | -1 | RCV001410053; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347535 | 56347535 | G | A | 56347535 | - | | | NM_001374736.1(DST):c.21347C>G (p.Thr7116Ser) | 667 | DST | Uncertain significance | -1 | RCV001929298; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347536 | 56347536 | G | C | 56347536 | - | | | NM_001374736.1(DST):c.21338G>A (p.Arg7113His) | 667 | DST | Uncertain significance | -1 | RCV001992873; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347545 | 56347545 | C | T | 56347545 | - | | | NM_001374736.1(DST):c.21337C>T (p.Arg7113Cys) | 667 | DST | Uncertain significance | -1 | RCV001987865; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347546 | 56347546 | G | A | 56347546 | - | | | NM_001374736.1(DST):c.21327A>G (p.Glu7109=) | 667 | DST | Likely benign | -1 | RCV002213438; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347556 | 56347556 | T | C | 56347556 | - | | | NM_001374736.1(DST):c.21324G>A (p.Gln7108=) | 667 | DST | Likely benign | -1 | RCV001459647; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347559 | 56347559 | C | T | 56347559 | - | | | NM_001374736.1(DST):c.21310A>G (p.Lys7104Glu) | 667 | DST | Uncertain significance | -1 | RCV002006414; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347573 | 56347573 | T | C | 56347573 | - | | | NM_001374736.1(DST):c.21290G>A (p.Arg7097Gln) | 667 | DST | Uncertain significance | rs372651269 | RCV001243633; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347593 | 56347593 | C | T | 6:g.56347593C>T | - | | | NM_001374736.1(DST):c.21289C>T (p.Arg7097Trp) | 667 | DST | Uncertain significance | rs752231990 | RCV001343637|RCV001507669; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56347594 | 56347594 | G | A | 56347594 | - | | | NM_001374736.1(DST):c.21288T>A (p.Ser7096Arg) | 667 | DST | Uncertain significance | rs2095442394 | RCV001244752; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347595 | 56347595 | A | T | 6:g.56347595A>T | - | | | NM_001374736.1(DST):c.21269G>A (p.Arg7090Gln) | 667 | DST | Uncertain significance | -1 | RCV001954811; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347614 | 56347614 | C | T | 56347614 | - | | | NM_001374736.1(DST):c.21268C>G (p.Arg7090Gly) | 667 | DST | Uncertain significance | rs753400637 | RCV001239859; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347615 | 56347615 | G | C | 6:g.56347615G>C | - | | | NM_001374736.1(DST):c.21260G>A (p.Arg7087His) | 667 | DST | Uncertain significance | rs199548754 | RCV001240341; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347623 | 56347623 | C | T | 6:g.56347623C>T | - | | | NM_001374736.1(DST):c.21259C>T (p.Arg7087Cys) | 667 | DST | Uncertain significance | -1 | RCV001945695; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347624 | 56347624 | G | A | 56347624 | - | | | NM_001374736.1(DST):c.21243T>A (p.Ser7081Arg) | 667 | DST | Uncertain significance | rs779915352 | RCV001241868; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347640 | 56347640 | A | T | 6:g.56347640A>T | - | | | NM_001374736.1(DST):c.21243T>C (p.Ser7081=) | 667 | DST | Likely benign | -1 | RCV002152383; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347640 | 56347640 | A | G | 56347640 | - | | | NM_001374736.1(DST):c.21237C>T (p.Thr7079=) | 667 | DST | Likely benign | -1 | RCV001437334; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347646 | 56347646 | G | A | 56347646 | - | | | NM_001374736.1(DST):c.21234G>A (p.Arg7078=) | 667 | DST | Likely benign | -1 | RCV002146162; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347649 | 56347649 | C | T | 56347649 | - | | | NM_001374736.1(DST):c.21231G>A (p.Lys7077=) | 667 | DST | Likely benign | -1 | RCV001422117; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56347652 | 56347652 | C | T | 56347652 | - | | | NM_001374736.1(DST):c.21208-2A>T | 667 | DST | Likely pathogenic | -1 | RCV001961435; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56347677 | 56347677 | T | A | 56347677 | - | | | NM_001374736.1(DST):c.21204C>T (p.His7068=) | 667 | DST | Likely benign | -1 | RCV001481202; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350113 | 56350113 | G | A | 56350113 | - | | | NM_001374736.1(DST):c.21195C>A (p.Ile7065=) | 667 | DST | Uncertain significance | rs759930255 | RCV001338339; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350122 | 56350122 | G | T | 56350122 | - | | | NM_001374736.1(DST):c.21187A>G (p.Asn7063Asp) | 667 | DST | Uncertain significance | rs2095526396 | RCV001245996; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56350130 | 56350130 | T | C | 6:g.56350130T>C | - | | | NM_001374736.1(DST):c.21183G>T (p.Val7061=) | 667 | DST | Likely benign | -1 | RCV001480716; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350134 | 56350134 | C | A | 56350134 | - | | | NM_001374736.1(DST):c.21181G>A (p.Val7061Met) | 667 | DST | Uncertain significance | rs1308825083 | RCV001247057; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56350136 | 56350136 | C | T | 6:g.56350136C>T | - | | | NM_001374736.1(DST):c.21178T>C (p.Leu7060=) | 667 | DST | Likely benign | -1 | RCV001405655; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350139 | 56350139 | A | G | 56350139 | - | | | NM_001374736.1(DST):c.21153C>A (p.Asp7051Glu) | 667 | DST | Uncertain significance | -1 | RCV001368160; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56350164 | 56350164 | G | T | 56350164 | - | | | NM_001374736.1(DST):c.21141G>A (p.Gln7047=) | 667 | DST | Likely benign | -1 | RCV001477870; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56350176 | 56350176 | C | T | 56350176 | - | | | NM_001374736.1(DST):c.21102A>G (p.Leu7034=) | 667 | DST | Likely benign | -1 | RCV002113015; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56350215 | 56350215 | T | C | 56350215 | - | | | NM_001374736.1(DST):c.21100C>T (p.Leu7034=) | 667 | DST | Likely benign | -1 | RCV001441376; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350217 | 56350217 | G | A | 56350217 | - | | | NM_001374736.1(DST):c.21048-1G>T | 667 | DST | Likely pathogenic | -1 | RCV001378330; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350270 | 56350270 | C | A | 56350270 | - | | | NM_001374736.1(DST):c.21048-4C>G | 667 | DST | Likely benign | -1 | RCV001467673; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56350273 | 56350273 | G | C | 56350273 | - | | | NM_001374736.1(DST):c.21048-5C>T | 667 | DST | Likely benign | -1 | RCV001483481; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56350274 | 56350274 | G | A | 56350274 | - | | | NM_001374736.1(DST):c.21047+9T>A | 667 | DST | Likely benign | -1 | RCV001393798; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56351893 | 56351893 | A | T | 56351893 | - | | | NM_001374736.1(DST):c.21015A>G (p.Lys7005=) | 667 | DST | Uncertain significance | -1 | RCV002030168; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56351934 | 56351934 | T | C | 56351934 | - | | | NM_001374736.1(DST):c.21011A>C (p.Asp7004Ala) | 667 | DST | Uncertain significance | -1 | RCV001914180; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56351938 | 56351938 | T | G | 56351938 | - | | | NM_001374736.1(DST):c.21001G>C (p.Glu7001Gln) | 667 | DST | Uncertain significance | rs555055845 | RCV001248591; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56351948 | 56351948 | C | G | 6:g.56351948C>G | - | | | NM_001374736.1(DST):c.20997G>A (p.Leu6999=) | 667 | DST | Benign/Likely benign | rs187652380 | RCV000625437|RCV000979000|RCV001701418|RCV001785683; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN169374|MedGen:CN517202 | 6 | 56351952 | 56351952 | C | T | 6:g.56351952C>T | ClinGen:CA3866608 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.20993T>C (p.Met6998Thr) | 667 | DST | Uncertain significance | -1 | RCV002021843; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351956 | 56351956 | A | G | 56351956 | - | | | NM_001374736.1(DST):c.20988T>A (p.Asp6996Glu) | 667 | DST | Uncertain significance | -1 | RCV001912301; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351961 | 56351961 | A | T | 56351961 | - | | | NM_001374736.1(DST):c.20981A>G (p.Lys6994Arg) | 667 | DST | Uncertain significance | rs747140695 | RCV001243634; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351968 | 56351968 | T | C | 6:g.56351968T>C | - | | | NM_001374736.1(DST):c.20977C>G (p.Leu6993Val) | 667 | DST | Benign | -1 | RCV001517025|RCV001685392; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56351972 | 56351972 | G | C | 56351972 | - | | | NM_001374736.1(DST):c.20976C>T (p.Asn6992=) | 667 | DST | Benign/Likely benign | rs199658821 | RCV000979024|RCV001311720; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56351973 | 56351973 | G | A | 6:g.56351973G>A | - | | | NM_001374736.1(DST):c.20976C>A (p.Asn6992Lys) | 667 | DST | Uncertain significance | -1 | RCV001867749; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56351973 | 56351973 | G | T | 56351973 | - | | | NM_001374736.1(DST):c.20975A>G (p.Asn6992Ser) | 667 | DST | Uncertain significance | rs780386919 | RCV000805306; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351974 | 56351974 | T | C | 6:g.56351974T>C | - | | | NM_001374736.1(DST):c.20971G>A (p.Asp6991Asn) | 667 | DST | Uncertain significance | -1 | RCV002031854; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351978 | 56351978 | C | T | 56351978 | - | | | NM_001374736.1(DST):c.20969A>C (p.Asp6990Ala) | 667 | DST | Uncertain significance | rs2095597405 | RCV001246857; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351980 | 56351980 | T | G | 6:g.56351980T>G | - | | | NM_001374736.1(DST):c.20963T>G (p.Leu6988Arg) | 667 | DST | Uncertain significance | rs769301413 | RCV001244614; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56351986 | 56351986 | A | C | 6:g.56351986A>C | - | | | NM_001374736.1(DST):c.20937A>G (p.Gly6979=) | 667 | DST | Likely benign | -1 | RCV002093319; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56352012 | 56352012 | T | C | 56352012 | - | | | NM_001374736.1(DST):c.20924C>T (p.Thr6975Ile) | 667 | DST | Uncertain significance | rs775114465 | RCV001244613; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56352025 | 56352025 | G | A | 6:g.56352025G>A | - | | | NM_001374736.1(DST):c.20923A>G (p.Thr6975Ala) | 667 | DST | Uncertain significance | rs2095598634 | RCV001343514; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56352026 | 56352026 | T | C | 56352026 | - | | | NM_001374736.1(DST):c.20904G>T (p.Lys6968Asn) | 667 | DST | Uncertain significance | rs373333745 | RCV001244417; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56352045 | 56352045 | C | A | 6:g.56352045C>A | - | | | NM_001374736.1(DST):c.20895C>T (p.Leu6965=) | 667 | DST | Likely benign | -1 | RCV001506338; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56352054 | 56352054 | G | A | 56352054 | - | | | NM_001374736.1(DST):c.20878-3T>C | 667 | DST | Uncertain significance | rs961527038 | RCV001245720; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56352074 | 56352074 | A | G | 6:g.56352074A>G | - | | | NM_001374736.1(DST):c.20878-8dup | 667 | DST | Uncertain significance | -1 | RCV001954870; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56352078 | 56352079 | A | AT | 56352078 | - | | | NM_001374736.1(DST):c.20871A>G (p.Gln6957=) | 667 | DST | Benign | rs572477548 | RCV000982023; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56354294 | 56354294 | T | C | 6:g.56354294T>C | - | | | NM_001374736.1(DST):c.20847C>T (p.Asp6949=) | 667 | DST | Likely benign | -1 | RCV001492091; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56354318 | 56354318 | G | A | 56354318 | - | | | NM_001374736.1(DST):c.20836A>T (p.Asn6946Tyr) | 667 | DST | Uncertain significance | rs910349740 | RCV001241253; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354329 | 56354329 | T | A | 6:g.56354329T>A | - | | | NM_001374736.1(DST):c.20834C>T (p.Ala6945Val) | 667 | DST | Uncertain significance | rs2095669121 | RCV001241452; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354331 | 56354331 | G | A | 6:g.56354331G>A | - | | | NM_001374736.1(DST):c.20825T>C (p.Leu6942Pro) | 667 | DST | Uncertain significance | -1 | RCV001875676; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354340 | 56354340 | A | G | 56354340 | - | | | NM_001374736.1(DST):c.20783T>C (p.Met6928Thr) | 667 | DST | Uncertain significance | rs763176568 | RCV001243096; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354382 | 56354382 | A | G | 6:g.56354382A>G | - | | | NM_001374736.1(DST):c.20783T>A (p.Met6928Lys) | 667 | DST | Uncertain significance | -1 | RCV001939862; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354382 | 56354382 | A | T | 56354382 | - | | | NM_001374736.1(DST):c.20767G>A (p.Ala6923Thr) | 667 | DST | Uncertain significance | rs767948298 | RCV001319143; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56354398 | 56354398 | C | T | 56354398 | - | | | NM_001374736.1(DST):c.20762A>G (p.His6921Arg) | 667 | DST | Uncertain significance | -1 | RCV002016536; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354403 | 56354403 | T | C | 56354403 | - | | | NM_001374736.1(DST):c.20761C>T (p.His6921Tyr) | 667 | DST | Uncertain significance | rs2095670422 | RCV001309635; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354404 | 56354404 | G | A | 56354404 | - | | | NM_001374736.1(DST):c.20760C>G (p.Phe6920Leu) | 667 | DST | Uncertain significance | rs374056754 | RCV001242693; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56354405 | 56354405 | G | C | 6:g.56354405G>C | - | | | NM_001374736.1(DST):c.20757+1G>A | 667 | DST | Likely pathogenic | -1 | RCV001379738; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357024 | 56357024 | C | T | 56357024 | - | | | NM_001374736.1(DST):c.20756A>G (p.Gln6919Arg) | 667 | DST | Uncertain significance | rs771106035 | RCV001243095; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357026 | 56357026 | T | C | 6:g.56357026T>C | - | | | NM_001374736.1(DST):c.20726C>A (p.Ser6909Tyr) | 667 | DST | Uncertain significance | rs371015718 | RCV001339296; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357056 | 56357056 | G | T | 56357056 | - | | | NM_001374736.1(DST):c.20722A>G (p.Arg6908Gly) | 667 | DST | Uncertain significance | -1 | RCV002039021; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357060 | 56357060 | T | C | 56357060 | - | | | NM_001374736.1(DST):c.20718A>T (p.Arg6906Ser) | 667 | DST | Uncertain significance | rs936474152 | RCV000795797; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357064 | 56357064 | T | A | 6:g.56357064T>A | - | | | NM_001374736.1(DST):c.20709G>A (p.Leu6903=) | 667 | DST | Uncertain significance | rs764552655 | RCV001308244; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357073 | 56357073 | C | T | 56357073 | - | | | NM_001374736.1(DST):c.20705G>A (p.Arg6902Gln) | 667 | DST | Uncertain significance | rs754316339 | RCV001246800; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357077 | 56357077 | C | T | 6:g.56357077C>T | - | | | NM_001374736.1(DST):c.20698G>T (p.Val6900Phe) | 667 | DST | Uncertain significance | -1 | RCV001924222; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357084 | 56357084 | C | A | 56357084 | - | | | NM_001374736.1(DST):c.20684G>T (p.Arg6895Leu) | 667 | DST | Uncertain significance | rs371273718 | RCV001339277; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357098 | 56357098 | C | A | 56357098 | - | | | NM_001374736.1(DST):c.20684G>A (p.Arg6895Gln) | 667 | DST | Uncertain significance | rs371273718 | RCV001341014; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357098 | 56357098 | C | T | 56357098 | - | | | NM_001374736.1(DST):c.20659A>G (p.Asn6887Asp) | 667 | DST | Uncertain significance | rs2095777312 | RCV001241251; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357123 | 56357123 | T | C | 6:g.56357123T>C | - | | | NM_001374736.1(DST):c.20612C>T (p.Thr6871Ile) | 667 | DST | Uncertain significance | rs2095778341 | RCV001240343; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357170 | 56357170 | G | A | 6:g.56357170G>A | - | | | NM_001374736.1(DST):c.20606C>T (p.Thr6869Ile) | 667 | DST | Uncertain significance | -1 | RCV001982684; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357176 | 56357176 | G | A | 56357176 | - | | | NM_001374736.1(DST):c.20596C>T (p.Leu6866=) | 667 | DST | Likely benign | -1 | RCV002177565; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357186 | 56357186 | G | A | 56357186 | - | | | NM_001374736.1(DST):c.20593G>C (p.Glu6865Gln) | 667 | DST | Uncertain significance | -1 | RCV002004002; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357189 | 56357189 | C | G | 56357189 | - | | | NM_001374736.1(DST):c.20578C>T (p.Arg6860Cys) | 667 | DST | Uncertain significance | rs769340564 | RCV000823541; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357204 | 56357204 | G | A | 6:g.56357204G>A | - | | | NM_001374736.1(DST):c.20561A>G (p.Asn6854Ser) | 667 | DST | Uncertain significance | rs372049401 | RCV000797123; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357221 | 56357221 | T | C | 6:g.56357221T>C | - | | | NM_001374736.1(DST):c.20560A>C (p.Asn6854His) | 667 | DST | Uncertain significance | -1 | RCV001365519; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357222 | 56357222 | T | G | 56357222 | - | | | NM_001374736.1(DST):c.20559C>T (p.Ala6853=) | 667 | DST | Likely benign | -1 | RCV001417742; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357223 | 56357223 | G | A | 56357223 | - | | | NM_001374736.1(DST):c.20551G>A (p.Val6851Ile) | 667 | DST | Uncertain significance | -1 | RCV002035754; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357231 | 56357231 | C | T | 56357231 | - | | | NM_001374736.1(DST):c.20551-3A>C | 667 | DST | Uncertain significance | rs1192992788 | RCV001071469; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357234 | 56357234 | T | G | 6:g.56357234T>G | - | | | NM_001374736.1(DST):c.20551-16dup | 667 | DST | Benign | -1 | RCV001510721; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357240 | 56357241 | G | GA | 56357240 | - | | | NM_001374736.1(DST):c.20551-10T>C | 667 | DST | Benign | rs191932729 | RCV000979023; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357241 | 56357241 | A | G | 6:g.56357241A>G | - | | | NM_001374736.1(DST):c.20551-10del | 667 | DST | Benign | -1 | RCV001514673; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357241 | 56357241 | GA | G | 56357240 | - | | | NM_001374736.1(DST):c.20548A>G (p.Lys6850Glu) | 667 | DST | Uncertain significance | -1 | RCV001987538; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357734 | 56357734 | T | C | 56357734 | - | | | NM_001374736.1(DST):c.20542G>A (p.Glu6848Lys) | 667 | DST | Uncertain significance | rs201305293 | RCV001245090; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357740 | 56357740 | C | T | 6:g.56357740C>T | - | | | NM_001374736.1(DST):c.20541C>T (p.Asp6847=) | 667 | DST | Benign | -1 | RCV001514393; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357741 | 56357741 | G | A | 56357741 | - | | | NM_001374736.1(DST):c.20537T>C (p.Ile6846Thr) | 667 | DST | Uncertain significance | rs762395369 | RCV001350784; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357745 | 56357745 | A | G | 56357745 | - | | | NM_001374736.1(DST):c.20524G>C (p.Val6842Leu) | 667 | DST | Uncertain significance | -1 | RCV001962445; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357758 | 56357758 | C | G | 56357758 | - | | | NM_001374736.1(DST):c.20511C>G (p.Leu6837=) | 667 | DST | Likely benign | -1 | RCV001485923; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357771 | 56357771 | G | C | 56357771 | - | | | NM_001374736.1(DST):c.20500C>T (p.Arg6834Trp) | 667 | DST | Uncertain significance | -1 | RCV002002668; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357782 | 56357782 | G | A | 56357782 | - | | | NM_001374736.1(DST):c.20482A>G (p.Thr6828Ala) | 667 | DST | Uncertain significance | -1 | RCV002023629; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357800 | 56357800 | T | C | 56357800 | - | | | NM_001374736.1(DST):c.20451C>T (p.Asp6817=) | 667 | DST | Likely benign | -1 | RCV001470824; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357831 | 56357831 | G | A | 56357831 | - | | | NM_001374736.1(DST):c.20446C>T (p.Gln6816Ter) | 667 | DST | Pathogenic | rs2095802050 | RCV001244420; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357836 | 56357836 | G | A | 6:g.56357836G>A | - | | | NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser) | 667 | DST | Conflicting interpretations of pathogenicity | rs199628430 | RCV000625438|RCV000801103|RCV001529345; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56357844 | 56357844 | T | C | NC_000006.11:g.56357844T>C | ClinGen:CA3866746 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.20426T>C (p.Met6809Thr) | 667 | DST | Uncertain significance | rs781336562 | RCV001242888; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357856 | 56357856 | A | G | 6:g.56357856A>G | - | | | NM_001374736.1(DST):c.20412T>C (p.Ala6804=) | 667 | DST | Likely benign | -1 | RCV001400710; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56357870 | 56357870 | A | G | 56357870 | - | | | NM_001374736.1(DST):c.20398A>G (p.Lys6800Glu) | 667 | DST | Uncertain significance | -1 | RCV001929219; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56357884 | 56357884 | T | C | 56357884 | - | | | NM_001374736.1(DST):c.20394+20_20394+24del | 667 | DST | Uncertain significance | -1 | RCV002033147; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358784 | 56358788 | CTATTA | C | 56358783 | - | | | NM_001374736.1(DST):c.20394+19A>G | 667 | DST | Likely benign | -1 | RCV002076048; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358789 | 56358789 | T | C | 56358789 | - | | | NM_001374736.1(DST):c.20394+14T>C | 667 | DST | Likely benign | -1 | RCV002156137; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358794 | 56358794 | A | G | 56358794 | - | | | NM_001374736.1(DST):c.20392A>G (p.Lys6798Glu) | 667 | DST | Uncertain significance | rs560268832 | RCV001247834; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358810 | 56358810 | T | C | 6:g.56358810T>C | - | | | NM_001374736.1(DST):c.20384A>G (p.Asn6795Ser) | 667 | DST | Uncertain significance | -1 | RCV001952301; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358818 | 56358818 | T | C | 56358818 | - | | | NM_001374736.1(DST):c.20382C>G (p.Leu6794=) | 667 | DST | Likely benign | -1 | RCV002194382; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358820 | 56358820 | G | C | 56358820 | - | | | NM_001374736.1(DST):c.20367G>A (p.Ser6789=) | 667 | DST | Likely benign | -1 | RCV001431539; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358835 | 56358835 | C | T | 56358835 | - | | | NM_001374736.1(DST):c.20366C>T (p.Ser6789Leu) | 667 | DST | Uncertain significance | -1 | RCV001894890; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358836 | 56358836 | G | A | 56358836 | - | | | NM_001374736.1(DST):c.20346C>T (p.Asn6782=) | 667 | DST | Benign | rs200110251 | RCV000980179; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358856 | 56358856 | G | A | 6:g.56358856G>A | - | | | NM_001374736.1(DST):c.20345A>C (p.Asn6782Thr) | 667 | DST | Uncertain significance | rs764679996 | RCV001241065; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358857 | 56358857 | T | G | 6:g.56358857T>G | - | | | NM_001374736.1(DST):c.20317G>A (p.Glu6773Lys) | 667 | DST | Uncertain significance | -1 | RCV001978826; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358885 | 56358885 | C | T | 56358885 | - | | | NM_001374736.1(DST):c.20303G>T (p.Cys6768Phe) | 667 | DST | Uncertain significance | rs2095837433 | RCV001244543; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358899 | 56358899 | C | A | 6:g.56358899C>A | - | | | NM_001374736.1(DST):c.20283C>G (p.Gly6761=) | 667 | DST | Likely benign | -1 | RCV001468551; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358919 | 56358919 | G | C | 56358919 | - | | | NM_001374736.1(DST):c.20282G>A (p.Gly6761Asp) | 667 | DST | Uncertain significance | rs746273825 | RCV001294789; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358920 | 56358920 | C | T | 56358920 | - | | | NM_001374736.1(DST):c.20273T>C (p.Met6758Thr) | 667 | DST | Uncertain significance | -1 | RCV001363262; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358929 | 56358929 | A | G | 56358929 | - | | | NM_001374736.1(DST):c.20271G>A (p.Leu6757=) | 667 | DST | Likely benign | -1 | RCV002181967; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358931 | 56358931 | C | T | 56358931 | - | | | NM_001374736.1(DST):c.20265G>A (p.Lys6755=) | 667 | DST | Likely benign | -1 | RCV002153089; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358937 | 56358937 | C | T | 56358937 | - | | | NM_001374736.1(DST):c.20254G>T (p.Glu6752Ter) | 667 | DST | Pathogenic | -1 | RCV002000032; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56358948 | 56358948 | C | A | 56358948 | - | | | NM_001374736.1(DST):c.20224-15G>A | 667 | DST | Likely benign | -1 | RCV002116944; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56358993 | 56358993 | C | T | 56358993 | - | | | NM_001374736.1(DST):c.20223+20C>G | 667 | DST | Likely benign | -1 | RCV002124390; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362157 | 56362157 | G | C | 56362157 | - | | | NM_001374736.1(DST):c.20223+7_20223+8dup | 667 | DST | Likely benign | -1 | RCV001406540; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362167 | 56362168 | C | CTT | 56362167 | - | | | NM_001374736.1(DST):c.20213A>C (p.Asn6738Thr) | 667 | DST | Uncertain significance | rs368434678 | RCV001345882; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362187 | 56362187 | T | G | 56362187 | - | | | NM_001374736.1(DST):c.20209C>G (p.Leu6737Val) | 667 | DST | Uncertain significance | -1 | RCV002044247; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362191 | 56362191 | G | C | 56362191 | - | | | NM_001374736.1(DST):c.20203G>A (p.Glu6735Lys) | 667 | DST | Uncertain significance | -1 | RCV001989329; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362197 | 56362197 | C | T | 56362197 | - | | | NM_001374736.1(DST):c.20201A>T (p.Lys6734Met) | 667 | DST | Uncertain significance | rs2095955225 | RCV001242821; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362199 | 56362199 | T | A | 6:g.56362199T>A | - | | | NM_001374736.1(DST):c.20190G>A (p.Pro6730=) | 667 | DST | Likely benign | -1 | RCV002152855; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362210 | 56362210 | C | T | 56362210 | - | | | NM_001374736.1(DST):c.20189C>T (p.Pro6730Leu) | 667 | DST | Uncertain significance | -1 | RCV001991114; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362211 | 56362211 | G | A | 56362211 | - | | | NM_001374736.1(DST):c.20175G>A (p.Pro6725=) | 667 | DST | Likely benign | -1 | RCV001447123; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362225 | 56362225 | C | T | 56362225 | - | | | NM_001374736.1(DST):c.20174C>T (p.Pro6725Leu) | 667 | DST | Uncertain significance | rs372733281 | RCV001327019; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362226 | 56362226 | G | A | 56362226 | - | | | NM_001374736.1(DST):c.20153G>A (p.Arg6718His) | 667 | DST | Benign | -1 | RCV001514459; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362247 | 56362247 | C | T | 56362247 | - | | | NM_001374736.1(DST):c.20148G>A (p.Thr6716=) | 667 | DST | Likely benign | -1 | RCV002144262; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362252 | 56362252 | C | T | 56362252 | - | | | NM_001374736.1(DST):c.20147C>T (p.Thr6716Met) | 667 | DST | Uncertain significance | -1 | RCV001984648; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362253 | 56362253 | G | A | 56362253 | - | | | NM_001374736.1(DST):c.20119G>C (p.Glu6707Gln) | 667 | DST | Uncertain significance | rs944605347 | RCV000800694; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362281 | 56362281 | C | G | 6:g.56362281C>G | - | | | NM_001374736.1(DST):c.20113G>A (p.Glu6705Lys) | 667 | DST | Uncertain significance | rs376734906 | RCV001242892; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362287 | 56362287 | C | T | 6:g.56362287C>T | - | | | NM_001374736.1(DST):c.20109T>C (p.His6703=) | 667 | DST | Likely benign | -1 | RCV002197607; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362291 | 56362291 | A | G | 56362291 | - | | | NM_001374736.1(DST):c.20107C>T (p.His6703Tyr) | 667 | DST | Uncertain significance | rs1464061736 | RCV001343161; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362293 | 56362293 | G | A | 56362293 | - | | | NM_001374736.1(DST):c.20106C>T (p.Phe6702=) | 667 | DST | Likely benign | -1 | RCV002156126; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362294 | 56362294 | G | A | 56362294 | - | | | NM_001374736.1(DST):c.20097C>T (p.Ala6699=) | 667 | DST | Benign | -1 | RCV001517143; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362303 | 56362303 | G | A | 56362303 | - | | | NM_001374736.1(DST):c.20095-18_20095-2dup | 667 | DST | Uncertain significance | -1 | RCV001955090; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362306 | 56362307 | C | CTGAAGTAATAGGCAGTT | 56362306 | - | | | NM_001374736.1(DST):c.20095-5T>A | 667 | DST | Uncertain significance | rs1259182802 | RCV001306402; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362310 | 56362310 | A | T | 56362310 | - | | | NM_001374736.1(DST):c.20095-12C>T | 667 | DST | Likely benign | -1 | RCV002083970; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362317 | 56362317 | G | A | 56362317 | - | | | NM_001374736.1(DST):c.20094+11G>A | 667 | DST | Likely benign | -1 | RCV002215166; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362643 | 56362643 | C | T | 56362643 | - | | | NM_001374736.1(DST):c.20094G>C (p.Gln6698His) | 667 | DST | Uncertain significance | rs2095975052 | RCV001245232; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362654 | 56362654 | C | G | 6:g.56362654C>G | - | | | NM_001374736.1(DST):c.20090G>A (p.Arg6697His) | 667 | DST | Uncertain significance | -1 | RCV001872438; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362658 | 56362658 | C | T | 56362658 | - | | | NM_001374736.1(DST):c.20083G>A (p.Ala6695Thr) | 667 | DST | Uncertain significance | -1 | RCV001991296; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362665 | 56362665 | C | T | 56362665 | - | | | NM_001374736.1(DST):c.20064G>A (p.Arg6688=) | 667 | DST | Likely benign | -1 | RCV001429735; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362684 | 56362684 | C | T | 56362684 | - | | | NM_001374736.1(DST):c.20053dup (p.Thr6685fs) | 667 | DST | Pathogenic | rs2095976276 | RCV001241388; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362694 | 56362695 | G | GT | 6:g.56362694_56362695insT | - | | | NM_001374736.1(DST):c.20049A>G (p.Glu6683=) | 667 | DST | Likely benign | -1 | RCV001467672; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362699 | 56362699 | T | C | 56362699 | - | | | NM_001374736.1(DST):c.20030G>A (p.Arg6677His) | 667 | DST | Uncertain significance | rs748356651 | RCV001239302; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362718 | 56362718 | C | T | 6:g.56362718C>T | - | | | NM_001374736.1(DST):c.20029C>T (p.Arg6677Cys) | 667 | DST | Uncertain significance | rs367862312 | RCV001246065; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362719 | 56362719 | G | A | 6:g.56362719G>A | - | | | NM_001374736.1(DST):c.20026C>A (p.Gln6676Lys) | 667 | DST | Uncertain significance | -1 | RCV001363708; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362722 | 56362722 | G | T | 56362722 | - | | | NM_001374736.1(DST):c.20024A>G (p.Asn6675Ser) | 667 | DST | Uncertain significance | rs1282843908 | RCV001243636; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362724 | 56362724 | T | C | 6:g.56362724T>C | - | | | NM_001374736.1(DST):c.20003A>G (p.Gln6668Arg) | 667 | DST | Uncertain significance | -1 | RCV001961409; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362745 | 56362745 | T | C | 56362745 | - | | | NM_001374736.1(DST):c.19984G>A (p.Glu6662Lys) | 667 | DST | Uncertain significance | -1 | RCV002030811; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362764 | 56362764 | C | T | 56362764 | - | | | NM_001374736.1(DST):c.19978G>T (p.Ala6660Ser) | 667 | DST | Uncertain significance | -1 | RCV001363873; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362770 | 56362770 | C | A | 56362770 | - | | | NM_001374736.1(DST):c.19967T>C (p.Ile6656Thr) | 667 | DST | Uncertain significance | -1 | RCV001918302; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362781 | 56362781 | A | G | 56362781 | - | | | NM_001374736.1(DST):c.19942G>A (p.Val6648Ile) | 667 | DST | Uncertain significance | rs754970520 | RCV001345407; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362806 | 56362806 | C | T | 56362806 | - | | | NM_001374736.1(DST):c.19941C>T (p.Ala6647=) | 667 | DST | Likely benign | -1 | RCV001450812; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362807 | 56362807 | G | A | 56362807 | - | | | NM_001374736.1(DST):c.19941C>A (p.Ala6647=) | 667 | DST | Likely benign | -1 | RCV002088447; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56362807 | 56362807 | G | T | 56362807 | - | | | NM_001374736.1(DST):c.19914A>G (p.Val6638=) | 667 | DST | Benign | -1 | RCV001517083; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362834 | 56362834 | T | C | 56362834 | - | | | NM_001374736.1(DST):c.19902C>T (p.Leu6634=) | 667 | DST | Likely benign | -1 | RCV002202918; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56362846 | 56362846 | G | A | 56362846 | - | | | NM_001374736.1(DST):c.19896+9C>T | 667 | DST | Likely benign | -1 | RCV002123919; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56365869 | 56365869 | G | A | 56365869 | - | | | NM_001374736.1(DST):c.19896+4C>T | 667 | DST | Uncertain significance | rs368685568 | RCV001309254; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365874 | 56365874 | G | A | 56365874 | - | | | NM_001374736.1(DST):c.19893T>C (p.His6631=) | 667 | DST | Likely benign | -1 | RCV001461935; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56365881 | 56365881 | A | G | 56365881 | - | | | NM_001374736.1(DST):c.19858G>A (p.Asp6620Asn) | 667 | DST | Uncertain significance | rs2096107643 | RCV001243164; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365916 | 56365916 | C | T | 6:g.56365916C>T | - | | | NM_001374736.1(DST):c.19842G>T (p.Gln6614His) | 667 | DST | Uncertain significance | rs376562335 | RCV001241127; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365932 | 56365932 | C | A | 6:g.56365932C>A | - | | | NM_001374736.1(DST):c.19822G>A (p.Glu6608Lys) | 667 | DST | Uncertain significance | rs752623511 | RCV001245369; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365952 | 56365952 | C | T | 6:g.56365952C>T | - | | | NM_001374736.1(DST):c.19821C>T (p.Thr6607=) | 667 | DST | Likely benign | -1 | RCV001409233; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56365953 | 56365953 | G | A | 56365953 | - | | | NM_001374736.1(DST):c.19821C>G (p.Thr6607=) | 667 | DST | Likely benign | -1 | RCV001435078; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365953 | 56365953 | G | C | 56365953 | - | | | NM_001374736.1(DST):c.19820C>G (p.Thr6607Ser) | 667 | DST | Uncertain significance | rs911141337 | RCV001326128; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365954 | 56365954 | G | C | 56365954 | - | | | NM_001374736.1(DST):c.19815A>G (p.Thr6605=) | 667 | DST | Likely benign | -1 | RCV001416844; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365959 | 56365959 | T | C | 56365959 | - | | | NM_001374736.1(DST):c.19782A>G (p.Gln6594=) | 667 | DST | Likely benign | -1 | RCV002079868; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56365992 | 56365992 | T | C | 56365992 | - | | | NM_001374736.1(DST):c.19776G>A (p.Gln6592=) | 667 | DST | Likely benign | -1 | RCV002085322; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56365998 | 56365998 | C | T | 56365998 | - | | | NM_001374736.1(DST):c.19761A>G (p.Leu6587=) | 667 | DST | Likely benign | -1 | RCV001455218; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366013 | 56366013 | T | C | 56366013 | - | | | NM_001374736.1(DST):c.19741-7del | 667 | DST | Likely benign | -1 | RCV001467254; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366040 | 56366040 | GA | G | 56366039 | - | | | NM_001374736.1(DST):c.19740+19_19740+59del | 667 | DST | Uncertain significance | -1 | RCV001926265; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366259 | 56366299 | TTTACATTAATATCTGAAATTGAAAATTTATAATTTCTTAAG | T | 56366258 | - | | | NM_001374736.1(DST):c.19733A>G (p.Asn6578Ser) | 667 | DST | Uncertain significance | -1 | RCV001864606; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366325 | 56366325 | T | C | 56366325 | - | | | NM_001374736.1(DST):c.19698A>G (p.Lys6566=) | 667 | DST | Likely benign | -1 | RCV001487341; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366360 | 56366360 | T | C | 56366360 | - | | | NM_001374736.1(DST):c.19693C>T (p.Leu6565=) | 667 | DST | Likely benign | -1 | RCV001465487; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366365 | 56366365 | G | A | 56366365 | - | | | NM_001374736.1(DST):c.19689G>A (p.Met6563Ile) | 667 | DST | Uncertain significance | rs1488090620 | RCV001303269; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366369 | 56366369 | C | T | 56366369 | - | | | NM_001374736.1(DST):c.19683A>G (p.Pro6561=) | 667 | DST | Likely benign | -1 | RCV001498984; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366375 | 56366375 | T | C | 56366375 | - | | | NM_001374736.1(DST):c.19656G>C (p.Glu6552Asp) | 667 | DST | Uncertain significance | rs199549741 | RCV000813415; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366402 | 56366402 | C | G | 6:g.56366402C>G | - | | | NM_001374736.1(DST):c.19649C>T (p.Thr6550Ile) | 667 | DST | Uncertain significance | -1 | RCV001932182; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366409 | 56366409 | G | A | 56366409 | - | | | NM_001374736.1(DST):c.19648A>G (p.Thr6550Ala) | 667 | DST | Benign | rs147983675 | RCV000979190; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366410 | 56366410 | T | C | 6:g.56366410T>C | - | | | NM_001374736.1(DST):c.19630C>T (p.Leu6544Phe) | 667 | DST | Uncertain significance | rs1314348115 | RCV001240273; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366428 | 56366428 | G | A | 6:g.56366428G>A | - | | | NM_001374736.1(DST):c.19630C>G (p.Leu6544Val) | 667 | DST | Uncertain significance | rs1314348115 | RCV001248122; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366428 | 56366428 | G | C | 6:g.56366428G>C | - | | | NM_001374736.1(DST):c.19604T>C (p.Met6535Thr) | 667 | DST | Uncertain significance | rs1371787646 | RCV001327629; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366454 | 56366454 | A | G | 56366454 | - | | | NM_001374736.1(DST):c.19594C>G (p.Gln6532Glu) | 667 | DST | Uncertain significance | -1 | RCV001891932; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56366464 | 56366464 | G | C | 56366464 | - | | | NM_001374736.1(DST):c.19590A>G (p.Gln6530=) | 667 | DST | Likely benign | -1 | RCV002204038; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366468 | 56366468 | T | C | 56366468 | - | | | NM_001374736.1(DST):c.19582G>A (p.Ala6528Thr) | 667 | DST | Uncertain significance | -1 | RCV002013600; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56366476 | 56366476 | C | T | 56366476 | - | | | NM_001374736.1(DST):c.19566+15T>C | 667 | DST | Likely benign | -1 | RCV002094222; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56368780 | 56368780 | A | G | 56368780 | - | | | NM_001374736.1(DST):c.19566+11G>A | 667 | DST | Likely benign | -1 | RCV002178184; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368784 | 56368784 | C | T | 56368784 | - | | | NM_001374736.1(DST):c.19566+7G>T | 667 | DST | Likely benign | -1 | RCV001477825; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56368788 | 56368788 | C | A | 56368788 | - | | | NM_001374736.1(DST):c.19560G>A (p.Glu6520=) | 667 | DST | Likely benign | -1 | RCV002120252; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56368801 | 56368801 | C | T | 56368801 | - | | | NM_001374736.1(DST):c.19553T>C (p.Ile6518Thr) | 667 | DST | Uncertain significance | rs781138348 | RCV001245857; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56368808 | 56368808 | A | G | 6:g.56368808A>G | - | | | NM_001374736.1(DST):c.19538C>T (p.Thr6513Ile) | 667 | DST | Uncertain significance | rs200108872 | RCV001322473; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368823 | 56368823 | G | A | 56368823 | - | | | NM_001374736.1(DST):c.19538C>A (p.Thr6513Asn) | 667 | DST | Uncertain significance | -1 | RCV002010953; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56368823 | 56368823 | G | T | 56368823 | - | | | NM_001374736.1(DST):c.19533C>T (p.Leu6511=) | 667 | DST | Likely benign | -1 | RCV002176420; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56368828 | 56368828 | G | A | 56368828 | - | | | NM_001374736.1(DST):c.19491A>G (p.Ala6497=) | 667 | DST | Likely benign | rs1583341150 | RCV001407451|RCV000980441; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56368870 | 56368870 | T | C | 6:g.56368870T>C | - | | | NM_001374736.1(DST):c.19470A>G (p.Val6490=) | 667 | DST | Likely benign | -1 | RCV001435148; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56368891 | 56368891 | T | C | 56368891 | - | | | NM_001374736.1(DST):c.19467G>A (p.Ala6489=) | 667 | DST | Uncertain significance | -1 | RCV002022199; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368894 | 56368894 | C | T | 56368894 | - | | | NM_001374736.1(DST):c.19466C>T (p.Ala6489Val) | 667 | DST | Uncertain significance | rs766294952 | RCV001239368|RCV001261749; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181| | 6 | 56368895 | 56368895 | G | A | 6:g.56368895G>A | - | | | NM_001374736.1(DST):c.19465-19G>T | 667 | DST | Likely benign | -1 | RCV001904759; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56368915 | 56368915 | C | A | 56368915 | - | | | NM_001374736.1(DST):c.19464+16T>C | 667 | DST | Likely benign | -1 | RCV002107838; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371225 | 56371225 | A | G | 56371225 | - | | | NM_001374736.1(DST):c.19453G>T (p.Asp6485Tyr) | 667 | DST | Uncertain significance | rs2096316666 | RCV001246466; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371252 | 56371252 | C | A | 6:g.56371252C>A | - | | | NM_001374736.1(DST):c.19441G>A (p.Val6481Ile) | 667 | DST | Uncertain significance | -1 | RCV001962441; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371264 | 56371264 | C | T | 56371264 | - | | | NM_001374736.1(DST):c.19440C>T (p.Ala6480=) | 667 | DST | Likely benign | -1 | RCV002100948; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371265 | 56371265 | G | A | 56371265 | - | | | NM_001374736.1(DST):c.19415A>G (p.Lys6472Arg) | 667 | DST | Uncertain significance | -1 | RCV001952078; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371290 | 56371290 | T | C | 56371290 | - | | | NM_001374736.1(DST):c.19409T>C (p.Ile6470Thr) | 667 | DST | Uncertain significance | -1 | RCV001954240; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371296 | 56371296 | A | G | 56371296 | - | | | NM_001374736.1(DST):c.19406G>A (p.Arg6469Gln) | 667 | DST | Uncertain significance | rs767731448 | RCV001246531; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371299 | 56371299 | C | T | 6:g.56371299C>T | - | | | NM_001374736.1(DST):c.19392A>G (p.Lys6464=) | 667 | DST | Uncertain significance | rs2096318328 | RCV001248467; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371313 | 56371313 | T | C | 6:g.56371313T>C | - | | | NM_001374736.1(DST):c.19362+8T>G | 667 | DST | Likely benign | -1 | RCV001472923; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371457 | 56371457 | A | C | 56371457 | - | | | NM_001374736.1(DST):c.19356A>G (p.Ile6452Met) | 667 | DST | Uncertain significance | rs2096326322 | RCV001294444; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371471 | 56371471 | T | C | 56371471 | - | | | NM_001374736.1(DST):c.19346A>G (p.Lys6449Arg) | 667 | DST | Uncertain significance | rs775631178 | RCV001319144; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371481 | 56371481 | T | C | 56371481 | - | | | NM_001374736.1(DST):c.19345A>T (p.Lys6449Ter) | 667 | DST | Pathogenic/Likely pathogenic | rs1562435373 | RCV000754992; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371482 | 56371482 | T | A | NC_000006.11:g.56371482T>A | OMIM:113810.0004 | | | NM_001374736.1(DST):c.19344C>A (p.Val6448=) | 667 | DST | Benign | rs201031760 | RCV000979004; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371483 | 56371483 | G | T | 6:g.56371483G>T | - | | | NM_001374736.1(DST):c.19339A>G (p.Ile6447Val) | 667 | DST | Uncertain significance | -1 | RCV001896165; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371488 | 56371488 | T | C | 56371488 | - | | | NM_001374736.1(DST):c.19337C>T (p.Pro6446Leu) | 667 | DST | Uncertain significance | -1 | RCV002005197; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371490 | 56371490 | G | A | 56371490 | - | | | NM_001374736.1(DST):c.19332T>C (p.Asp6444=) | 667 | DST | Likely benign | -1 | RCV001424427; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371495 | 56371495 | A | G | 56371495 | - | | | NM_001374736.1(DST):c.19322G>A (p.Gly6441Glu) | 667 | DST | Uncertain significance | -1 | RCV001771546|RCV001885057; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371505 | 56371505 | C | T | 56371505 | - | | | NM_001374736.1(DST):c.19320T>C (p.Cys6440=) | 667 | DST | Likely benign | -1 | RCV002158521; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371507 | 56371507 | A | G | 56371507 | - | | | NM_001374736.1(DST):c.19317A>G (p.Ala6439=) | 667 | DST | Likely benign | -1 | RCV001467255; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371510 | 56371510 | T | C | 56371510 | - | | | NM_001374736.1(DST):c.19314G>A (p.Ala6438=) | 667 | DST | Uncertain significance | -1 | RCV001925513; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371513 | 56371513 | C | T | 56371513 | - | | | NM_001374736.1(DST):c.19313C>T (p.Ala6438Val) | 667 | DST | Uncertain significance | -1 | RCV001972990; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371514 | 56371514 | G | A | 56371514 | - | | | NM_001374736.1(DST):c.19294C>G (p.Leu6432Val) | 667 | DST | Uncertain significance | rs1463615455 | RCV001348488; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371533 | 56371533 | G | C | 56371533 | - | | | NM_001374736.1(DST):c.19272G>T (p.Glu6424Asp) | 667 | DST | Uncertain significance | rs2096328571 | RCV001242822; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371555 | 56371555 | C | A | 6:g.56371555C>A | - | | | NM_001374736.1(DST):c.19240-10C>G | 667 | DST | Likely benign | -1 | RCV002119953; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56371597 | 56371597 | G | C | 56371597 | - | | | NM_001374736.1(DST):c.19240-15A>G | 667 | DST | Likely benign | -1 | RCV002093384; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56371602 | 56371602 | T | C | 56371602 | - | | | NM_001374736.1(DST):c.19239+10A>T | 667 | DST | Likely benign | rs767526367 | RCV000979186|RCV001415831; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373317 | 56373317 | T | A | 6:g.56373317T>A | - | | | NM_001374736.1(DST):c.19233A>G (p.Ala6411=) | 667 | DST | Likely benign | -1 | RCV001395943; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373333 | 56373333 | T | C | 56373333 | - | | | NM_001374736.1(DST):c.19230A>G (p.Glu6410=) | 667 | DST | Likely benign | -1 | RCV001444665; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373336 | 56373336 | T | C | 56373336 | - | | | NM_001374736.1(DST):c.19213G>A (p.Val6405Ile) | 667 | DST | Uncertain significance | rs2096396105 | RCV001316932; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373353 | 56373353 | C | T | 56373353 | - | | | NM_001374736.1(DST):c.19212A>G (p.Val6404=) | 667 | DST | Uncertain significance | -1 | RCV001999457; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373354 | 56373354 | T | C | 56373354 | - | | | NM_001374736.1(DST):c.19211T>G (p.Val6404Gly) | 667 | DST | Uncertain significance | -1 | RCV001962431; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373355 | 56373355 | A | C | 56373355 | - | | | NM_001374736.1(DST):c.19210G>A (p.Val6404Ile) | 667 | DST | Uncertain significance | rs773401291 | RCV001239171; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373356 | 56373356 | C | T | 6:g.56373356C>T | - | | | NM_001374736.1(DST):c.19192C>A (p.Pro6398Thr) | 667 | DST | Uncertain significance | -1 | RCV001956989; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373374 | 56373374 | G | T | 56373374 | - | | | NM_001374736.1(DST):c.19178G>A (p.Arg6393Gln) | 667 | DST | Uncertain significance | rs759918675 | RCV001246651; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373388 | 56373388 | C | T | 6:g.56373388C>T | - | | | NM_001374736.1(DST):c.19177C>T (p.Arg6393Trp) | 667 | DST | Uncertain significance | -1 | RCV002027538; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373389 | 56373389 | G | A | 56373389 | - | | | NM_001374736.1(DST):c.19175T>C (p.Ile6392Thr) | 667 | DST | Uncertain significance | -1 | RCV001919427; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373391 | 56373391 | A | G | 56373391 | - | | | NM_001374736.1(DST):c.19141T>C (p.Leu6381=) | 667 | DST | Likely benign | -1 | RCV001451708; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373425 | 56373425 | A | G | 56373425 | - | | | NM_001374736.1(DST):c.19135A>T (p.Met6379Leu) | 667 | DST | Uncertain significance | -1 | RCV001373555; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373431 | 56373431 | T | A | 56373431 | - | | | NM_001374736.1(DST):c.19111G>A (p.Ala6371Thr) | 667 | DST | Uncertain significance | -1 | RCV001920777; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373455 | 56373455 | C | T | 56373455 | - | | | NM_001374736.1(DST):c.19108C>G (p.Leu6370Val) | 667 | DST | Uncertain significance | rs2096398026 | RCV001299561; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373458 | 56373458 | G | C | 56373458 | - | | | NM_001374736.1(DST):c.19102A>G (p.Met6368Val) | 667 | DST | Uncertain significance | -1 | RCV002049214; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373464 | 56373464 | T | C | 56373464 | - | | | NM_001374736.1(DST):c.19095G>T (p.Leu6365=) | 667 | DST | Likely benign | -1 | RCV001481542; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373471 | 56373471 | C | A | 56373471 | - | | | NM_001374736.1(DST):c.19088A>C (p.Lys6363Thr) | 667 | DST | Uncertain significance | -1 | RCV001991609; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373478 | 56373478 | T | G | 56373478 | - | | | NM_001374736.1(DST):c.19074A>G (p.Glu6358=) | 667 | DST | Likely benign | -1 | RCV002184391; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373492 | 56373492 | T | C | 56373492 | - | | | NM_001374736.1(DST):c.19056C>T (p.Asn6352=) | 667 | DST | Likely benign | -1 | RCV001470385; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373510 | 56373510 | G | A | 56373510 | - | | | NM_001374736.1(DST):c.19047T>C (p.Ile6349=) | 667 | DST | Likely benign | -1 | RCV001451856; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373519 | 56373519 | A | G | 56373519 | - | | | NM_001374736.1(DST):c.19042T>G (p.Phe6348Val) | 667 | DST | Uncertain significance | -1 | RCV001986768; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56373524 | 56373524 | A | C | 56373524 | - | | | NM_001374736.1(DST):c.19030G>A (p.Asp6344Asn) | 667 | DST | Benign | -1 | RCV001420700|RCV001514392|RCV001534960; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56373536 | 56373536 | C | T | 56373536 | - | | | NM_001374736.1(DST):c.19013-7T>C | 667 | DST | Likely benign | -1 | RCV001430616; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56373560 | 56373560 | A | G | 56373560 | - | | | NM_001374736.1(DST):c.19012+20G>T | 667 | DST | Uncertain significance | -1 | RCV001980153; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374420 | 56374420 | C | A | 56374420 | - | | | NM_001374736.1(DST):c.19009A>G (p.Lys6337Glu) | 667 | DST | Uncertain significance | rs2096426641 | RCV001326609; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374443 | 56374443 | T | C | 56374443 | - | | | NM_001374736.1(DST):c.19001T>C (p.Ile6334Thr) | 667 | DST | Uncertain significance | -1 | RCV001988696; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374451 | 56374451 | A | G | 56374451 | - | | | NM_001374736.1(DST):c.18962A>G (p.Glu6321Gly) | 667 | DST | Uncertain significance | -1 | RCV002008030; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374490 | 56374490 | T | C | 56374490 | - | | | NM_001374736.1(DST):c.18938A>G (p.Tyr6313Cys) | 667 | DST | Uncertain significance | rs781596409 | RCV001239300; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374514 | 56374514 | T | C | 6:g.56374514T>C | - | | | NM_001374736.1(DST):c.18921A>G (p.Glu6307=) | 667 | DST | Likely benign | -1 | RCV001450322; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374531 | 56374531 | T | C | 56374531 | - | | | NM_001374736.1(DST):c.18918G>C (p.Met6306Ile) | 667 | DST | Uncertain significance | -1 | RCV001921068; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374534 | 56374534 | C | G | 56374534 | - | | | NM_001374736.1(DST):c.18917T>C (p.Met6306Thr) | 667 | DST | Uncertain significance | rs771484088 | RCV001297034; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374535 | 56374535 | A | G | 56374535 | - | | | NM_001374736.1(DST):c.18908C>T (p.Ser6303Leu) | 667 | DST | Uncertain significance | rs775490741 | RCV001242625; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374544 | 56374544 | G | A | 6:g.56374544G>A | - | | | NM_001374736.1(DST):c.18890G>T (p.Ser6297Ile) | 667 | DST | Uncertain significance | rs2096429215 | RCV001240213; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374562 | 56374562 | C | A | 6:g.56374562C>A | - | | | NM_001374736.1(DST):c.18888C>T (p.Ile6296=) | 667 | DST | Likely benign | -1 | RCV001441421; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374564 | 56374564 | G | A | 56374564 | - | | | NM_001374736.1(DST):c.18883C>G (p.Gln6295Glu) | 667 | DST | Uncertain significance | rs2096429659 | RCV001351072; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374569 | 56374569 | G | C | 56374569 | - | | | NM_001374736.1(DST):c.18882A>G (p.Glu6294=) | 667 | DST | Likely benign | -1 | RCV001432501; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374570 | 56374570 | T | C | 56374570 | - | | | NM_001374736.1(DST):c.18849C>G (p.Pro6283=) | 667 | DST | Likely benign | -1 | RCV001482930; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374603 | 56374603 | G | C | 56374603 | - | | | NM_001374736.1(DST):c.18847C>A (p.Pro6283Thr) | 667 | DST | Uncertain significance | rs2096430348 | RCV001244545; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374605 | 56374605 | G | T | 6:g.56374605G>T | - | | | NM_001374736.1(DST):c.18838A>C (p.Arg6280=) | 667 | DST | Likely benign | -1 | RCV001420016; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374614 | 56374614 | T | G | 56374614 | - | | | NM_001374736.1(DST):c.18836T>A (p.Leu6279Gln) | 667 | DST | Uncertain significance | -1 | RCV001934242; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374616 | 56374616 | A | T | 56374616 | - | | | NM_001374736.1(DST):c.18826G>A (p.Val6276Met) | 667 | DST | Uncertain significance | rs377620360 | RCV001245645; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374626 | 56374626 | C | T | 6:g.56374626C>T | - | | | NM_001374736.1(DST):c.18825C>T (p.Ile6275=) | 667 | DST | Likely benign | -1 | RCV001402494; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374627 | 56374627 | G | A | 56374627 | - | | | NM_001374736.1(DST):c.18820C>T (p.Arg6274Cys) | 667 | DST | Uncertain significance | -1 | RCV001922266; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56374632 | 56374632 | G | A | 56374632 | - | | | NM_001374736.1(DST):c.18801G>T (p.Gln6267His) | 667 | DST | Uncertain significance | rs778466743 | RCV001344285; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374651 | 56374651 | C | A | 56374651 | - | | | NM_001374736.1(DST):c.18788A>G (p.Asp6263Gly) | 667 | DST | Uncertain significance | -1 | RCV001915993; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56374664 | 56374664 | T | C | 56374664 | - | | | NM_001374736.1(DST):c.18780+20A>G | 667 | DST | Likely benign | -1 | RCV002213461; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56375975 | 56375975 | T | C | 56375975 | - | | | NM_001374736.1(DST):c.18780+14C>G | 667 | DST | Likely benign | -1 | RCV001956711; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56375981 | 56375981 | G | C | 56375981 | - | | | NM_001374736.1(DST):c.18777T>C (p.Thr6259=) | 667 | DST | Likely benign | -1 | RCV002209022; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56375998 | 56375998 | A | G | 56375998 | - | | | NM_001374736.1(DST):c.18775A>G (p.Thr6259Ala) | 667 | DST | Uncertain significance | -1 | RCV002004924; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376000 | 56376000 | T | C | 56376000 | - | | | NM_001374736.1(DST):c.18771A>G (p.Gln6257=) | 667 | DST | Likely benign | -1 | RCV002116762; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376004 | 56376004 | T | C | 56376004 | - | | | NM_001374736.1(DST):c.18754G>A (p.Asp6252Asn) | 667 | DST | Likely benign | -1 | RCV001441806; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376021 | 56376021 | C | T | 56376021 | - | | | NM_001374736.1(DST):c.18750A>G (p.Ala6250=) | 667 | DST | Likely benign | -1 | RCV002088657; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376025 | 56376025 | T | C | 56376025 | - | | | NM_001374736.1(DST):c.18747G>A (p.Val6249=) | 667 | DST | Likely benign | -1 | RCV001465895; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376028 | 56376028 | C | T | 56376028 | - | | | NM_001374736.1(DST):c.18740G>A (p.Arg6247His) | 667 | DST | Uncertain significance | rs368560111 | RCV001244949; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376035 | 56376035 | C | T | 6:g.56376035C>T | - | | | NM_001374736.1(DST):c.18739C>T (p.Arg6247Cys) | 667 | DST | Uncertain significance | -1 | RCV001926296; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376036 | 56376036 | G | A | 56376036 | - | | | NM_001374736.1(DST):c.18715C>T (p.Gln6239Ter) | 667 | DST | Pathogenic | rs2096469777 | RCV001248592; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376060 | 56376060 | G | A | 6:g.56376060G>A | - | | | NM_001374736.1(DST):c.18702C>T (p.Asp6234=) | 667 | DST | Likely benign | -1 | RCV001483483; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376073 | 56376073 | G | A | 56376073 | - | | | NM_001374736.1(DST):c.18701A>G (p.Asp6234Gly) | 667 | DST | Uncertain significance | -1 | RCV001359473; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376074 | 56376074 | T | C | 56376074 | - | | | NM_001374736.1(DST):c.18700G>A (p.Asp6234Asn) | 667 | DST | Uncertain significance | rs753185411 | RCV001295126; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376075 | 56376075 | C | T | 56376075 | - | | | NM_001374736.1(DST):c.18699C>T (p.Ala6233=) | 667 | DST | Likely benign | rs373689917 | RCV000979184; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376076 | 56376076 | G | A | 6:g.56376076G>A | - | | | NM_001374736.1(DST):c.18695C>T (p.Ala6232Val) | 667 | DST | Uncertain significance | -1 | RCV001373937; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376080 | 56376080 | G | A | 56376080 | - | | | NM_001374736.1(DST):c.18684G>A (p.Glu6228=) | 667 | DST | Benign | -1 | RCV001514395|RCV001615189; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56376091 | 56376091 | C | T | 56376091 | - | | | NM_001374736.1(DST):c.18673T>G (p.Ser6225Ala) | 667 | DST | Uncertain significance | rs1033335791 | RCV001242564; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376102 | 56376102 | A | C | 6:g.56376102A>C | - | | | NM_001374736.1(DST):c.18625A>T (p.Asn6209Tyr) | 667 | DST | Uncertain significance | -1 | RCV002020718; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376150 | 56376150 | T | A | 56376150 | - | | | NM_001374736.1(DST):c.18621G>A (p.Lys6207=) | 667 | DST | Likely benign | rs1583547445 | RCV000979092|RCV001410503; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376154 | 56376154 | C | T | 6:g.56376154C>T | - | | | NM_001374736.1(DST):c.18606G>A (p.Lys6202=) | 667 | DST | Likely benign | -1 | RCV001502455; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376169 | 56376169 | C | T | 56376169 | - | | | NM_001374736.1(DST):c.18601C>T (p.His6201Tyr) | 667 | DST | Uncertain significance | rs371649829 | RCV001295125; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376174 | 56376174 | G | A | 56376174 | - | | | NM_001374736.1(DST):c.18597T>C (p.Ala6199=) | 667 | DST | Likely benign | -1 | RCV001457942; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376178 | 56376178 | A | G | 56376178 | - | | | NM_001374736.1(DST):c.18589T>C (p.Leu6197=) | 667 | DST | Likely benign | -1 | RCV001466350; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56376186 | 56376186 | A | G | 56376186 | - | | | NM_001374736.1(DST):c.18577-3T>C | 667 | DST | Uncertain significance | -1 | RCV001921397; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56376201 | 56376201 | A | G | 56376201 | - | | | NM_001374736.1(DST):c.18576+10G>A | 667 | DST | Likely benign | -1 | RCV002164397; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380238 | 56380238 | C | T | 56380238 | - | | | NM_001374736.1(DST):c.18576G>A (p.Arg6192=) | 667 | DST | Uncertain significance | rs2096570211 | RCV001238912; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380248 | 56380248 | C | T | 6:g.56380248C>T | - | | | NM_001374736.1(DST):c.18571C>T (p.His6191Tyr) | 667 | DST | Uncertain significance | rs764457552 | RCV001349556; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380253 | 56380253 | G | A | 56380253 | - | | | NM_001374736.1(DST):c.18568G>A (p.Glu6190Lys) | 667 | DST | Uncertain significance | rs754382598 | RCV001245921; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380256 | 56380256 | C | T | 6:g.56380256C>T | - | | | NM_001374736.1(DST):c.18543T>C (p.Tyr6181=) | 667 | DST | Likely benign | -1 | RCV002218689; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380281 | 56380281 | A | G | 56380281 | - | | | NM_001374736.1(DST):c.18526G>A (p.Ala6176Thr) | 667 | DST | Uncertain significance | rs540680338 | RCV001239734; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380298 | 56380298 | C | T | 6:g.56380298C>T | - | | | NM_001374736.1(DST):c.18525C>T (p.Pro6175=) | 667 | DST | Likely benign | -1 | RCV001445439; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380299 | 56380299 | G | A | 56380299 | - | | | NM_001374736.1(DST):c.18513C>G (p.Ile6171Met) | 667 | DST | Uncertain significance | rs1029481180 | RCV001242562; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380311 | 56380311 | G | C | 6:g.56380311G>C | - | | | NM_001374736.1(DST):c.18511A>G (p.Ile6171Val) | 667 | DST | Uncertain significance | -1 | RCV001864614; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380313 | 56380313 | T | C | 56380313 | - | | | NM_001374736.1(DST):c.18508A>G (p.Ile6170Val) | 667 | DST | Uncertain significance | rs374091334 | RCV001342561; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380316 | 56380316 | T | C | 56380316 | - | | | NM_001374736.1(DST):c.18489G>C (p.Trp6163Cys) | 667 | DST | Uncertain significance | -1 | RCV001870366; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380335 | 56380335 | C | G | 56380335 | - | | | NM_001374736.1(DST):c.18480T>C (p.Leu6160=) | 667 | DST | Likely benign | -1 | RCV001470426; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380344 | 56380344 | A | G | 56380344 | - | | | NM_001374736.1(DST):c.18478C>T (p.Leu6160Phe) | 667 | DST | Uncertain significance | -1 | RCV001363264; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380346 | 56380346 | G | A | 56380346 | - | | | NM_001374736.1(DST):c.18472G>A (p.Glu6158Lys) | 667 | DST | Uncertain significance | rs955207101 | RCV001322995; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380352 | 56380352 | C | T | 56380352 | - | | | NM_001374736.1(DST):c.18448G>A (p.Val6150Ile) | 667 | DST | Uncertain significance | -1 | RCV001367337; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380376 | 56380376 | C | T | 56380376 | - | | | NM_001374736.1(DST):c.18439C>T (p.Gln6147Ter) | 667 | DST | Pathogenic | -1 | RCV002035254; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380385 | 56380385 | G | A | 56380385 | - | | | NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp) | 667 | DST | Conflicting interpretations of pathogenicity | rs193252082 | RCV000981886|RCV001200472; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56380391 | 56380391 | G | A | 6:g.56380391G>A | - | | | NM_001374736.1(DST):c.18432A>G (p.Glu6144=) | 667 | DST | Likely benign | -1 | RCV002081050; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380392 | 56380392 | T | C | 56380392 | - | | | NM_001374736.1(DST):c.18404T>G (p.Ile6135Ser) | 667 | DST | Uncertain significance | rs760688522 | RCV000815504; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380420 | 56380420 | A | C | 6:g.56380420A>C | - | | | NM_001374736.1(DST):c.18397T>A (p.Cys6133Ser) | 667 | DST | Benign/Likely benign | rs75105686 | RCV000979017|RCV001766800; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56380427 | 56380427 | A | T | 6:g.56380427A>T | - | | | NM_001374736.1(DST):c.18392C>A (p.Thr6131Asn) | 667 | DST | Uncertain significance | -1 | RCV002050416; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380432 | 56380432 | G | T | 56380432 | - | | | NM_001374736.1(DST):c.18381G>C (p.Lys6127Asn) | 667 | DST | Uncertain significance | -1 | RCV001998379; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380443 | 56380443 | C | G | 56380443 | - | | | NM_001374736.1(DST):c.18373G>A (p.Val6125Ile) | 667 | DST | Uncertain significance | -1 | RCV001929021; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380451 | 56380451 | C | T | 56380451 | - | | | NM_001374736.1(DST):c.18358-13T>C | 667 | DST | Likely benign | -1 | RCV002093874; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56380479 | 56380479 | A | G | 56380479 | - | | | NM_001374736.1(DST):c.18358-16T>C | 667 | DST | Benign | -1 | RCV002180388; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380482 | 56380482 | A | G | 56380482 | - | | | NM_001374736.1(DST):c.18358-20T>G | 667 | DST | Likely benign | -1 | RCV001960595; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56380486 | 56380486 | A | C | 56380486 | - | | | NM_001374736.1(DST):c.18357+15G>A | 667 | DST | Likely benign | -1 | RCV002087111; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56381981 | 56381981 | C | T | 56381981 | - | | | NM_001374736.1(DST):c.18357+5A>C | 667 | DST | Uncertain significance | -1 | RCV001977094; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56381991 | 56381991 | T | G | 56381991 | - | | | NM_001374736.1(DST):c.18351A>C (p.Ser6117=) | 667 | DST | Likely benign | -1 | RCV002210258; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382002 | 56382002 | T | G | 56382002 | - | | | NM_001374736.1(DST):c.18348A>G (p.Gln6116=) | 667 | DST | Likely benign | -1 | RCV001467253; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382005 | 56382005 | T | C | 56382005 | - | | | NM_001374736.1(DST):c.18325G>A (p.Ala6109Thr) | 667 | DST | Uncertain significance | -1 | RCV001968037; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382028 | 56382028 | C | T | 56382028 | - | | | NM_001374736.1(DST):c.18324C>T (p.Thr6108=) | 667 | DST | Likely benign | -1 | RCV001448866; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382029 | 56382029 | G | A | 56382029 | - | | | NM_001374736.1(DST):c.18298G>A (p.Val6100Ile) | 667 | DST | Uncertain significance | -1 | RCV001877092; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382055 | 56382055 | C | T | 56382055 | - | | | NM_001374736.1(DST):c.18276C>G (p.His6092Gln) | 667 | DST | Uncertain significance | rs747211113 | RCV001245858; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382077 | 56382077 | G | C | 6:g.56382077G>C | - | | | NM_001374736.1(DST):c.18257C>T (p.Thr6086Ile) | 667 | DST | Uncertain significance | rs769780483 | RCV001245855; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382096 | 56382096 | G | A | 6:g.56382096G>A | - | | | NM_001374736.1(DST):c.18253T>C (p.Phe6085Leu) | 667 | DST | Uncertain significance | rs370466372 | RCV001322522; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382100 | 56382100 | A | G | 56382100 | - | | | NM_001374736.1(DST):c.18250A>G (p.Thr6084Ala) | 667 | DST | Uncertain significance | rs749880417 | RCV001341002; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382103 | 56382103 | T | C | 56382103 | - | | | NM_001374736.1(DST):c.18250-7A>T | 667 | DST | Likely benign | -1 | RCV001452163; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382110 | 56382110 | T | A | 56382110 | - | | | NM_001374736.1(DST):c.18250-11G>A | 667 | DST | Likely benign | -1 | RCV002153282; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382114 | 56382114 | C | T | 56382114 | - | | | NM_001374736.1(DST):c.18250-11G>T | 667 | DST | Likely benign | -1 | RCV002099394; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382114 | 56382114 | C | A | 56382114 | - | | | NM_001374736.1(DST):c.18249+10T>C | 667 | DST | Likely benign | -1 | RCV001408530; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382289 | 56382289 | A | G | 56382289 | - | | | NM_001374736.1(DST):c.18249+3G>A | 667 | DST | Uncertain significance | rs200813187 | RCV001246798; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382296 | 56382296 | C | T | 6:g.56382296C>T | - | | | NM_001374736.1(DST):c.18219C>T (p.Asp6073=) | 667 | DST | Likely benign | -1 | RCV002207278; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382329 | 56382329 | G | A | 56382329 | - | | | NM_001374736.1(DST):c.18213G>T (p.Glu6071Asp) | 667 | DST | Uncertain significance | rs373876039 | RCV001243366; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382335 | 56382335 | C | A | 6:g.56382335C>A | - | | | NM_001374736.1(DST):c.18178A>G (p.Lys6060Glu) | 667 | DST | Uncertain significance | -1 | RCV001948836; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382370 | 56382370 | T | C | 56382370 | - | | | NM_001374736.1(DST):c.18177A>T (p.Glu6059Asp) | 667 | DST | Uncertain significance | rs1275339494 | RCV001238970; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382371 | 56382371 | T | A | 6:g.56382371T>A | - | | | NM_001374736.1(DST):c.18146A>G (p.Asp6049Gly) | 667 | DST | Uncertain significance | rs1172615642 | RCV001295572; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56382402 | 56382402 | T | C | 56382402 | - | | | NM_001374736.1(DST):c.18135C>G (p.Asp6045Glu) | 667 | DST | Uncertain significance | rs368605712 | RCV001248664; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56382413 | 56382413 | G | C | 6:g.56382413G>C | - | | | NM_001374736.1(DST):c.18129+12T>C | 667 | DST | Likely benign | -1 | RCV002216676; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391147 | 56391147 | A | G | 56391147 | - | | | NM_001374736.1(DST):c.18123A>G (p.Ser6041=) | 667 | DST | Likely benign | -1 | RCV002160837; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391165 | 56391165 | T | C | 56391165 | - | | | NM_001374736.1(DST):c.18119G>A (p.Arg6040Gln) | 667 | DST | Uncertain significance | -1 | RCV001984772; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391169 | 56391169 | C | T | 56391169 | - | | | NM_001374736.1(DST):c.18117G>T (p.Leu6039=) | 667 | DST | Likely benign | -1 | RCV002154305; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391171 | 56391171 | C | A | 56391171 | - | | | NM_001374736.1(DST):c.18105T>C (p.Asp6035=) | 667 | DST | Benign | rs148368712 | RCV000979019|RCV001638025; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56391183 | 56391183 | A | G | 6:g.56391183A>G | - | | | NM_001374736.1(DST):c.18102C>T (p.Ile6034=) | 667 | DST | Likely benign | -1 | RCV001456513; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391186 | 56391186 | G | A | 56391186 | - | | | NM_001374736.1(DST):c.18091G>A (p.Val6031Met) | 667 | DST | Uncertain significance | rs1164812960 | RCV001241933; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391197 | 56391197 | C | T | 6:g.56391197C>T | - | | | NM_001374736.1(DST):c.18082A>G (p.Thr6028Ala) | 667 | DST | Uncertain significance | rs757401983 | RCV001309752; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391206 | 56391206 | T | C | 56391206 | - | | | NM_001374736.1(DST):c.18081C>T (p.Ile6027=) | 667 | DST | Likely benign | -1 | RCV001428425; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391207 | 56391207 | G | A | 56391207 | - | | | NM_001374736.1(DST):c.18076A>G (p.Thr6026Ala) | 667 | DST | Uncertain significance | -1 | RCV002007808; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391212 | 56391212 | T | C | 56391212 | - | | | NM_001374736.1(DST):c.18072C>T (p.Ser6024=) | 667 | DST | Likely benign | -1 | RCV001500297; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391216 | 56391216 | G | A | 56391216 | - | | | NM_001374736.1(DST):c.18071G>A (p.Ser6024Asn) | 667 | DST | Uncertain significance | -1 | RCV001361395; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391217 | 56391217 | C | T | 56391217 | - | | | NM_001374736.1(DST):c.18065T>C (p.Leu6022Ser) | 667 | DST | Uncertain significance | rs2096797952 | RCV001247512; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391223 | 56391223 | A | G | 6:g.56391223A>G | - | | | NM_001374736.1(DST):c.18062G>A (p.Arg6021Gln) | 667 | DST | Uncertain significance | rs755338488 | RCV001247062; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391226 | 56391226 | C | T | 6:g.56391226C>T | - | | | NM_001374736.1(DST):c.18061C>T (p.Arg6021Ter) | 667 | DST | Pathogenic | -1 | RCV001960697; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391227 | 56391227 | G | A | 56391227 | - | | | NM_001374736.1(DST):c.18056G>A (p.Arg6019His) | 667 | DST | Uncertain significance | rs745991437 | RCV001243432; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391232 | 56391232 | C | T | 6:g.56391232C>T | - | | | NM_001374736.1(DST):c.18050A>G (p.Asn6017Ser) | 667 | DST | Uncertain significance | -1 | RCV002038212; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391238 | 56391238 | T | C | 56391238 | - | | | NM_001374736.1(DST):c.18047A>G (p.Asp6016Gly) | 667 | DST | Uncertain significance | rs1444942164 | RCV000625439|RCV001700278|RCV001347780; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391241 | 56391241 | T | C | 6:g.56391241T>C | ClinGen:CA364505744 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.18039A>G (p.Val6013=) | 667 | DST | Likely benign | -1 | RCV001495432; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391249 | 56391249 | T | C | 56391249 | - | | | NM_001374736.1(DST):c.18036G>A (p.Met6012Ile) | 667 | DST | Uncertain significance | -1 | RCV002029311; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391252 | 56391252 | C | T | 56391252 | - | | | NM_001374736.1(DST):c.18023G>A (p.Gly6008Glu) | 667 | DST | Uncertain significance | rs746414483 | RCV001240274; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391265 | 56391265 | C | T | 6:g.56391265C>T | - | | | NM_001374736.1(DST):c.18008G>A (p.Trp6003Ter) | 667 | DST | Pathogenic | rs2096799052 | RCV001242502; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391280 | 56391280 | C | T | 6:g.56391280C>T | - | | | NM_001374736.1(DST):c.18005C>T (p.Pro6002Leu) | 667 | DST | Uncertain significance | -1 | RCV001896763; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391283 | 56391283 | G | A | 56391283 | - | | | NM_001374736.1(DST):c.18001G>A (p.Val6001Ile) | 667 | DST | Uncertain significance | -1 | RCV002001922; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391287 | 56391287 | C | T | 56391287 | - | | | NM_001374736.1(DST):c.17974G>A (p.Glu5992Lys) | 667 | DST | Uncertain significance | rs1272059049 | RCV001348084; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391314 | 56391314 | C | T | 56391314 | - | | | NM_001374736.1(DST):c.17968C>G (p.Leu5990Val) | 667 | DST | Uncertain significance | -1 | RCV002026188; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391320 | 56391320 | G | C | 56391320 | - | | | NM_001374736.1(DST):c.17948A>G (p.Asn5983Ser) | 667 | DST | Uncertain significance | rs201492565 | RCV001241249; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391340 | 56391340 | T | C | 6:g.56391340T>C | - | | | NM_001374736.1(DST):c.17942A>G (p.Lys5981Arg) | 667 | DST | Uncertain significance | rs2096799768 | RCV001246527; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391346 | 56391346 | T | C | 6:g.56391346T>C | - | | | NM_001374736.1(DST):c.17940T>G (p.Ala5980=) | 667 | DST | Likely benign | -1 | RCV002206154; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391348 | 56391348 | A | C | 56391348 | - | | | NM_001374736.1(DST):c.17939C>G (p.Ala5980Gly) | 667 | DST | Uncertain significance | -1 | RCV001865193; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391349 | 56391349 | G | C | 56391349 | - | | | NM_001374736.1(DST):c.17928G>A (p.Leu5976=) | 667 | DST | Likely benign | -1 | RCV002103418; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391360 | 56391360 | C | T | 56391360 | - | | | NM_001374736.1(DST):c.17923G>A (p.Glu5975Lys) | 667 | DST | Uncertain significance | rs371243432 | RCV001248190; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56391365 | 56391365 | C | T | 6:g.56391365C>T | - | | | NM_001374736.1(DST):c.17923-2A>G | 667 | DST | Likely pathogenic | -1 | RCV001998586; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56391367 | 56391367 | T | C | 56391367 | - | | | NM_001374736.1(DST):c.17923-10A>G | 667 | DST | Benign | rs116504133 | RCV000979020|RCV001541838; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56391375 | 56391375 | T | C | 6:g.56391375T>C | - | | | NM_001374736.1(DST):c.17922+3A>G | 667 | DST | Uncertain significance | rs370384005 | RCV001297856; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392288 | 56392288 | T | C | 56392288 | - | | | NM_001374736.1(DST):c.17922G>A (p.Lys5974=) | 667 | DST | Uncertain significance | -1 | RCV001979831; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392291 | 56392291 | C | T | 56392291 | - | | | NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala) | 667 | DST | Uncertain significance | -1 | RCV002037357; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392319 | 56392319 | T | G | 56392319 | - | | | NM_001374736.1(DST):c.17889A>T (p.Gly5963=) | 667 | DST | Uncertain significance | -1 | RCV001982724; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392324 | 56392324 | T | A | 56392324 | - | | | NM_001374736.1(DST):c.17880T>G (p.Val5960=) | 667 | DST | Likely benign | -1 | RCV002158004; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392333 | 56392333 | A | C | 56392333 | - | | | NM_001374736.1(DST):c.17831C>T (p.Thr5944Ile) | 667 | DST | Uncertain significance | -1 | RCV002022639; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392382 | 56392382 | G | A | 56392382 | - | | | NM_001374736.1(DST):c.17830A>G (p.Thr5944Ala) | 667 | DST | Uncertain significance | rs1252419878 | RCV001245919; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392383 | 56392383 | T | C | 6:g.56392383T>C | - | | | NM_001374736.1(DST):c.17828G>A (p.Cys5943Tyr) | 667 | DST | Uncertain significance | -1 | RCV001919207; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392385 | 56392385 | C | T | 56392385 | - | | | NM_001374736.1(DST):c.17817C>T (p.His5939=) | 667 | DST | Likely benign | -1 | RCV001431537; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392396 | 56392396 | G | A | 56392396 | - | | | NM_001374736.1(DST):c.17807A>G (p.His5936Arg) | 667 | DST | Uncertain significance | -1 | RCV002046713; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392406 | 56392406 | T | C | 56392406 | - | | | NM_001374736.1(DST):c.17804T>A (p.Leu5935Gln) | 667 | DST | Uncertain significance | rs763300533 | RCV001239233|RCV001507672; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56392409 | 56392409 | A | T | 6:g.56392409A>T | - | | | NM_001374736.1(DST):c.17801G>A (p.Arg5934Gln) | 667 | DST | Uncertain significance | rs537793986 | RCV001240069; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392412 | 56392412 | C | T | 6:g.56392412C>T | - | | | NM_001374736.1(DST):c.17800C>T (p.Arg5934Trp) | 667 | DST | Uncertain significance | -1 | RCV001866996; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392413 | 56392413 | G | A | 56392413 | - | | | NM_001374736.1(DST):c.17784G>A (p.Ala5928=) | 667 | DST | Likely benign | -1 | RCV001405653; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392429 | 56392429 | C | T | 56392429 | - | | | NM_001374736.1(DST):c.17783C>T (p.Ala5928Val) | 667 | DST | Uncertain significance | rs764588106 | RCV001297622; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392430 | 56392430 | G | A | 56392430 | - | | | NM_001374736.1(DST):c.17773C>G (p.Leu5925Val) | 667 | DST | Uncertain significance | -1 | RCV001990176; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392440 | 56392440 | G | C | 56392440 | - | | | NM_001374736.1(DST):c.17772T>A (p.Thr5924=) | 667 | DST | Likely benign | -1 | RCV002145652; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392441 | 56392441 | A | T | 56392441 | - | | | NM_001374736.1(DST):c.17764G>A (p.Ala5922Thr) | 667 | DST | Uncertain significance | -1 | RCV001795519|RCV002034653; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392449 | 56392449 | C | T | 56392449 | - | | | NM_001374736.1(DST):c.17730G>A (p.Arg5910=) | 667 | DST | Likely benign | -1 | RCV001474916; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56392483 | 56392483 | C | T | 56392483 | - | | | NM_001374736.1(DST):c.17696T>C (p.Ile5899Thr) | 667 | DST | Uncertain significance | -1 | RCV002026256; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392517 | 56392517 | A | G | 56392517 | - | | | NM_001374736.1(DST):c.17683G>C (p.Asp5895His) | 667 | DST | Uncertain significance | -1 | RCV001864475; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392530 | 56392530 | C | G | 56392530 | - | | | NM_001374736.1(DST):c.17681-19C>T | 667 | DST | Likely benign | -1 | RCV002098580; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56392551 | 56392551 | G | A | 56392551 | - | | | NM_001374736.1(DST):c.17671C>G (p.Gln5891Glu) | 667 | DST | Uncertain significance | rs757060967 | RCV001338338; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56393648 | 56393648 | G | C | 56393648 | - | | | NM_001374736.1(DST):c.17658A>G (p.Leu5886=) | 667 | DST | Likely benign | -1 | RCV002178278; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56393661 | 56393661 | T | C | 56393661 | - | | | NM_001374736.1(DST):c.17645T>C (p.Leu5882Ser) | 667 | DST | Uncertain significance | rs2096847724 | RCV001246726; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56393674 | 56393674 | A | G | 6:g.56393674A>G | - | | | NM_001374736.1(DST):c.17627A>G (p.Gln5876Arg) | 667 | DST | Uncertain significance | -1 | RCV001879108; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56393692 | 56393692 | T | C | 56393692 | - | | | NM_001374736.1(DST):c.17603A>C (p.Gln5868Pro) | 667 | DST | Uncertain significance | rs769166134 | RCV001343807; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56393716 | 56393716 | T | G | 56393716 | - | | | NM_001374736.1(DST):c.17601G>T (p.Leu5867=) | 667 | DST | Likely benign | -1 | RCV002141733; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56393718 | 56393718 | C | A | 56393718 | - | | | NM_001374736.1(DST):c.17596-11T>C | 667 | DST | Likely benign | -1 | RCV002146407; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56393734 | 56393734 | A | G | 56393734 | - | | | NM_001374736.1(DST):c.17596-15T>C | 667 | DST | Likely benign | -1 | RCV002212775; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56393738 | 56393738 | A | G | 56393738 | - | | | NM_001374736.1(DST):c.17595+1G>A | 667 | DST | Likely pathogenic | rs2096858510 | RCV001243780; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394245 | 56394245 | C | T | 6:g.56394245C>T | - | | | NM_001374736.1(DST):c.17595G>C (p.Arg5865=) | 667 | DST | Uncertain significance | rs2096858541 | RCV001346795; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394246 | 56394246 | C | G | 56394246 | - | | | NM_001374736.1(DST):c.17593C>T (p.Arg5865Trp) | 667 | DST | Uncertain significance | rs766911461 | RCV001298114; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394248 | 56394248 | G | A | 56394248 | - | | | NM_001374736.1(DST):c.17582A>G (p.Gln5861Arg) | 667 | DST | Uncertain significance | -1 | RCV001945287; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394259 | 56394259 | T | C | 56394259 | - | | | NM_001374736.1(DST):c.17577G>A (p.Lys5859=) | 667 | DST | Likely benign | -1 | RCV002138608; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394264 | 56394264 | C | T | 56394264 | - | | | NM_001374736.1(DST):c.17568G>A (p.Gly5856=) | 667 | DST | Likely benign | -1 | RCV001475184; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394273 | 56394273 | C | T | 56394273 | - | | | NM_001374736.1(DST):c.17555A>G (p.Tyr5852Cys) | 667 | DST | Uncertain significance | rs757046386 | RCV001245507; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394286 | 56394286 | T | C | 6:g.56394286T>C | - | | | NM_001374736.1(DST):c.17551G>T (p.Asp5851Tyr) | 667 | DST | Uncertain significance | rs180773742 | RCV001243701; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394290 | 56394290 | C | A | 6:g.56394290C>A | - | | | NM_001374736.1(DST):c.17551G>A (p.Asp5851Asn) | 667 | DST | Uncertain significance | -1 | RCV002021227; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394290 | 56394290 | C | T | 56394290 | - | | | NM_001374736.1(DST):c.17547C>T (p.Val5849=) | 667 | DST | Likely benign | -1 | RCV001474380; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394294 | 56394294 | G | A | 56394294 | - | | | NM_001374736.1(DST):c.17522A>C (p.His5841Pro) | 667 | DST | Uncertain significance | rs758568001 | RCV001294790; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394319 | 56394319 | T | G | 56394319 | - | | | NM_001374736.1(DST):c.17522A>T (p.His5841Leu) | 667 | DST | Likely benign | -1 | RCV001438228; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394319 | 56394319 | T | A | 56394319 | - | | | NM_001374736.1(DST):c.17520G>A (p.Val5840=) | 667 | DST | Likely benign | -1 | RCV001457904; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394321 | 56394321 | C | T | 56394321 | - | | | NM_001374736.1(DST):c.17519T>G (p.Val5840Gly) | 667 | DST | Uncertain significance | -1 | RCV001948839; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394322 | 56394322 | A | C | 56394322 | - | | | NM_001374736.1(DST):c.17505C>T (p.Asn5835=) | 667 | DST | Likely benign | -1 | RCV002096387; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394336 | 56394336 | G | A | 56394336 | - | | | NM_001374736.1(DST):c.17496A>C (p.Glu5832Asp) | 667 | DST | Uncertain significance | rs773757881 | RCV001319752; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394345 | 56394345 | T | G | 56394345 | - | | | NM_001374736.1(DST):c.17489A>C (p.Glu5830Ala) | 667 | DST | Uncertain significance | rs373654920 | RCV001308753; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394352 | 56394352 | T | G | 56394352 | - | | | NM_001374736.1(DST):c.17450A>G (p.Gln5817Arg) | 667 | DST | Uncertain significance | rs761791970 | RCV001245163; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394391 | 56394391 | T | C | 6:g.56394391T>C | - | | | NM_001374736.1(DST):c.17450A>T (p.Gln5817Leu) | 667 | DST | Uncertain significance | -1 | RCV001903848; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394391 | 56394391 | T | A | 56394391 | - | | | NM_001374736.1(DST):c.17443C>A (p.Leu5815Ile) | 667 | DST | Uncertain significance | rs750180346 | RCV001298746; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394398 | 56394398 | G | T | 56394398 | - | | | NM_001374736.1(DST):c.17397A>C (p.Gln5799His) | 667 | DST | Uncertain significance | -1 | RCV001872772; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394444 | 56394444 | T | G | 56394444 | - | | | NM_001374736.1(DST):c.17386G>A (p.Asp5796Asn) | 667 | DST | Uncertain significance | rs186699708 | RCV001246802; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394455 | 56394455 | C | T | 6:g.56394455C>T | - | | | NM_001374736.1(DST):c.17385A>G (p.Leu5795=) | 667 | DST | Likely benign | -1 | RCV002102415; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394456 | 56394456 | T | C | 56394456 | - | | | NM_001374736.1(DST):c.17378G>A (p.Ser5793Asn) | 667 | DST | Uncertain significance | rs369521830 | RCV001241063; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394463 | 56394463 | C | T | 6:g.56394463C>T | - | | | NM_001374736.1(DST):c.17365G>A (p.Asp5789Asn) | 667 | DST | Uncertain significance | -1 | RCV001910818; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394476 | 56394476 | C | T | 56394476 | - | | | NM_001374736.1(DST):c.17340G>A (p.Lys5780=) | 667 | DST | Likely benign | -1 | RCV001417146; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394501 | 56394501 | C | T | 56394501 | - | | | NM_001374736.1(DST):c.17326G>C (p.Gly5776Arg) | 667 | DST | Uncertain significance | -1 | RCV002046481; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394515 | 56394515 | C | G | 56394515 | - | | | NM_001374736.1(DST):c.17310C>A (p.His5770Gln) | 667 | DST | Uncertain significance | rs751772852 | RCV001295129; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394531 | 56394531 | G | T | 56394531 | - | | | NM_001374736.1(DST):c.17308C>T (p.His5770Tyr) | 667 | DST | Uncertain significance | -1 | RCV002017129; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394533 | 56394533 | G | A | 56394533 | - | | | NM_001374736.1(DST):c.17303A>G (p.His5768Arg) | 667 | DST | Uncertain significance | rs755202054 | RCV001246192; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394538 | 56394538 | T | C | 6:g.56394538T>C | - | | | NM_001374736.1(DST):c.17280T>C (p.Asp5760=) | 667 | DST | Likely benign | -1 | RCV001477059; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394561 | 56394561 | A | G | 56394561 | - | | | NM_001374736.1(DST):c.17269-3T>A | 667 | DST | Uncertain significance | rs373884076 | RCV001245303; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394575 | 56394575 | A | T | 6:g.56394575A>T | - | | | NM_001374736.1(DST):c.17268+7T>C | 667 | DST | Likely benign | -1 | RCV001494877; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394765 | 56394765 | A | G | 56394765 | - | | | NM_001374736.1(DST):c.17268+6A>G | 667 | DST | Uncertain significance | rs2096867211 | RCV001243905; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394766 | 56394766 | T | C | 6:g.56394766T>C | - | | | NM_001374736.1(DST):c.17251C>T (p.Gln5751Ter) | 667 | DST | Pathogenic | rs2096867388 | RCV001247971; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394789 | 56394789 | G | A | 6:g.56394789G>A | - | | | NM_001374736.1(DST):c.17235A>G (p.Ala5745=) | 667 | DST | Likely benign | -1 | RCV001405652; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394805 | 56394805 | T | C | 56394805 | - | | | NM_001374736.1(DST):c.17234C>T (p.Ala5745Val) | 667 | DST | Uncertain significance | rs1562586282 | RCV001246462; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394806 | 56394806 | G | A | 6:g.56394806G>A | - | | | NM_001374736.1(DST):c.17232A>C (p.Gln5744His) | 667 | DST | Uncertain significance | rs1156755669 | RCV001244814; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394808 | 56394808 | T | G | 6:g.56394808T>G | - | | | NM_001374736.1(DST):c.17220C>T (p.Pro5740=) | 667 | DST | Likely benign | -1 | RCV001498124; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394820 | 56394820 | G | A | 56394820 | - | | | NM_001374736.1(DST):c.17176G>A (p.Glu5726Lys) | 667 | DST | Uncertain significance | rs774345974 | RCV001243903; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394864 | 56394864 | C | T | 6:g.56394864C>T | - | | | NM_001374736.1(DST):c.17158A>G (p.Thr5720Ala) | 667 | DST | Uncertain significance | rs761029398 | RCV001340947; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394882 | 56394882 | T | C | 56394882 | - | | | NM_001374736.1(DST):c.17157A>G (p.Glu5719=) | 667 | DST | Likely benign | -1 | RCV001428971; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394883 | 56394883 | T | C | 56394883 | - | | | NM_001374736.1(DST):c.17153A>G (p.His5718Arg) | 667 | DST | Uncertain significance | rs757364222 | RCV001239860; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394887 | 56394887 | T | C | 6:g.56394887T>C | - | | | NM_001374736.1(DST):c.17143C>A (p.Gln5715Lys) | 667 | DST | Uncertain significance | rs1562587802 | RCV001241128; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394897 | 56394897 | G | T | 6:g.56394897G>T | - | | | NM_001374736.1(DST):c.17141C>T (p.Ala5714Val) | 667 | DST | Uncertain significance | -1 | RCV001974173; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394899 | 56394899 | G | A | 56394899 | - | | | NM_001374736.1(DST):c.17140G>A (p.Ala5714Thr) | 667 | DST | Uncertain significance | rs1225545020 | RCV001240144; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394900 | 56394900 | C | T | 6:g.56394900C>T | - | | | NM_001374736.1(DST):c.17133G>A (p.Ser5711=) | 667 | DST | Likely benign | -1 | RCV001503881; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394907 | 56394907 | C | T | 56394907 | - | | | NM_001374736.1(DST):c.17133G>T (p.Ser5711=) | 667 | DST | Likely benign | -1 | RCV002094607; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394907 | 56394907 | C | A | 56394907 | - | | | NM_001374736.1(DST):c.17128A>G (p.Ile5710Val) | 667 | DST | Uncertain significance | -1 | RCV002029303; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394912 | 56394912 | T | C | 56394912 | - | | | NM_001374736.1(DST):c.17123A>G (p.Glu5708Gly) | 667 | DST | Uncertain significance | rs894146699 | RCV001239858; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394917 | 56394917 | T | C | 6:g.56394917T>C | - | | | NM_001374736.1(DST):c.17113C>T (p.Arg5705Cys) | 667 | DST | Uncertain significance | rs979136179 | RCV001241061; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394927 | 56394927 | G | A | 6:g.56394927G>A | - | | | NM_001374736.1(DST):c.17109-9C>T | 667 | DST | Likely benign | -1 | RCV001503851; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56394940 | 56394940 | G | A | 56394940 | - | | | NM_001374736.1(DST):c.17109-12G>A | 667 | DST | Likely benign | -1 | RCV002179434; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56394943 | 56394943 | C | T | 56394943 | - | | | NM_001374736.1(DST):c.17108+10A>G | 667 | DST | Benign | rs191140581 | RCV000979022|RCV001729774; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56397132 | 56397132 | T | C | 6:g.56397132T>C | - | | | NM_001374736.1(DST):c.17108+9T>C | 667 | DST | Likely benign | -1 | RCV001494879; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397133 | 56397133 | A | G | 56397133 | - | | | NM_001374736.1(DST):c.17108+6T>C | 667 | DST | Uncertain significance | rs375166905 | RCV001246649; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56397136 | 56397136 | A | G | 6:g.56397136A>G | - | | | NM_001374736.1(DST):c.17105C>T (p.Thr5702Ile) | 667 | DST | Uncertain significance | -1 | RCV001913819; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56397145 | 56397145 | G | A | 56397145 | - | | | NM_001374736.1(DST):c.17086T>C (p.Leu5696=) | 667 | DST | Likely benign | -1 | RCV001457427; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397164 | 56397164 | A | G | 56397164 | - | | | NM_001374736.1(DST):c.17082G>A (p.Glu5694=) | 667 | DST | Likely benign | -1 | RCV001502483; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56397168 | 56397168 | C | T | 56397168 | - | | | NM_001374736.1(DST):c.17070T>C (p.Asp5690=) | 667 | DST | Likely benign | -1 | RCV001393321; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397180 | 56397180 | A | G | 56397180 | - | | | NM_001374736.1(DST):c.17044A>G (p.Ile5682Val) | 667 | DST | Uncertain significance | -1 | RCV001928127; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56397206 | 56397206 | T | C | 56397206 | - | | | NM_001374736.1(DST):c.17030C>T (p.Ala5677Val) | 667 | DST | Benign | rs145976321 | RCV000979021|RCV001597237; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56397220 | 56397220 | G | A | 6:g.56397220G>A | - | | | NM_001374736.1(DST):c.17028C>G (p.Pro5676=) | 667 | DST | Likely benign | -1 | RCV002214822; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56397222 | 56397222 | G | C | 56397222 | - | | | NM_001374736.1(DST):c.17011G>A (p.Ala5671Thr) | 667 | DST | Uncertain significance | rs1584257296 | RCV001350101; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397239 | 56397239 | C | T | 56397239 | - | | | NM_001374736.1(DST):c.16977G>A (p.Thr5659=) | 667 | DST | Likely benign | -1 | RCV001467257; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397273 | 56397273 | C | T | 56397273 | - | | | NM_001374736.1(DST):c.16967G>A (p.Arg5656Gln) | 667 | DST | Conflicting interpretations of pathogenicity | rs116774070 | RCV000998630|RCV001449325; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397283 | 56397283 | C | T | 6:g.56397283C>T | - | | | NM_001374736.1(DST):c.16956G>T (p.Leu5652Phe) | 667 | DST | Uncertain significance | rs371645175 | RCV001248336; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397294 | 56397294 | C | A | 6:g.56397294C>A | - | | | NM_001374736.1(DST):c.16956G>A (p.Leu5652=) | 667 | DST | Likely benign | -1 | RCV001478760; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56397294 | 56397294 | C | T | 56397294 | - | | | NM_001374736.1(DST):c.16942-10T>C | 667 | DST | Likely benign | -1 | RCV001463791; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56397318 | 56397318 | A | G | 56397318 | - | | | NM_001374736.1(DST):c.16941+9G>T | 667 | DST | Likely benign | -1 | RCV002215863; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56399911 | 56399911 | C | A | 56399911 | - | | | NM_001374736.1(DST):c.16941+4A>G | 667 | DST | Uncertain significance | rs76350521 | RCV001242387; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56399916 | 56399916 | T | C | 6:g.56399916T>C | - | | | NM_001374736.1(DST):c.16922C>T (p.Ala5641Val) | 667 | DST | Uncertain significance | rs768150254 | RCV000998631|RCV001243637; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56399939 | 56399939 | G | A | 6:g.56399939G>A | - | | | NM_001374736.1(DST):c.16914G>A (p.Val5638=) | 667 | DST | Likely benign | -1 | RCV001483484; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56399947 | 56399947 | C | T | 56399947 | - | | | NM_001374736.1(DST):c.16895C>T (p.Pro5632Leu) | 667 | DST | Uncertain significance | rs1178200177 | RCV001347358; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56399966 | 56399966 | G | A | 56399966 | - | | | NM_001374736.1(DST):c.16889A>G (p.Lys5630Arg) | 667 | DST | Uncertain significance | rs1236590396 | RCV001318470; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56399972 | 56399972 | T | C | 56399972 | - | | | NM_001374736.1(DST):c.16883A>C (p.Asn5628Thr) | 667 | DST | Uncertain significance | -1 | RCV001904004; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56399978 | 56399978 | T | G | 56399978 | - | | | NM_001374736.1(DST):c.16859T>C (p.Val5620Ala) | 667 | DST | Uncertain significance | rs200036988 | RCV001296004; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400002 | 56400002 | A | G | 56400002 | - | | | NM_001374736.1(DST):c.16858del (p.Val5620fs) | 667 | DST | Pathogenic | rs1584328172 | RCV000824024; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400003 | 56400003 | AC | A | 6:g.56400003_56400003del | - | | | NM_001374736.1(DST):c.16858G>A (p.Val5620Met) | 667 | DST | Uncertain significance | rs371837412 | RCV001245651; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400003 | 56400003 | C | T | 6:g.56400003C>T | - | | | NM_001374736.1(DST):c.16857G>A (p.Met5619Ile) | 667 | DST | Uncertain significance | -1 | RCV002042208; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400004 | 56400004 | C | T | 56400004 | - | | | NM_001374736.1(DST):c.16824C>G (p.Phe5608Leu) | 667 | DST | Uncertain significance | -1 | RCV001361894; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400037 | 56400037 | G | C | 56400037 | - | | | NM_001374736.1(DST):c.16814G>C (p.Cys5605Ser) | 667 | DST | Uncertain significance | rs1198301994 | RCV001240212; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56400047 | 56400047 | C | G | 6:g.56400047C>G | - | | | NM_001374736.1(DST):c.16814G>A (p.Cys5605Tyr) | 667 | DST | Uncertain significance | -1 | RCV001896125; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56400047 | 56400047 | C | T | 56400047 | - | | | NM_001374736.1(DST):c.16799A>G (p.Glu5600Gly) | 667 | DST | Uncertain significance | -1 | RCV001870083; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400062 | 56400062 | T | C | 56400062 | - | | | NM_001374736.1(DST):c.16788C>T (p.Ala5596=) | 667 | DST | Likely benign | -1 | RCV001479846; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56400073 | 56400073 | G | A | 56400073 | - | | | NM_001374736.1(DST):c.16786G>A (p.Ala5596Thr) | 667 | DST | Uncertain significance | rs2096973219 | RCV001240991; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400075 | 56400075 | C | T | 6:g.56400075C>T | - | | | NM_001374736.1(DST):c.16781G>A (p.Arg5594Gln) | 667 | DST | Uncertain significance | rs766153258 | RCV001316610; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56400080 | 56400080 | C | T | 56400080 | - | | | NM_001374736.1(DST):c.16780C>T (p.Arg5594Ter) | 667 | DST | Pathogenic | -1 | RCV001386390; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400081 | 56400081 | G | A | 56400081 | - | | | NM_001374736.1(DST):c.16772T>C (p.Val5591Ala) | 667 | DST | Uncertain significance | -1 | RCV001937861; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56400089 | 56400089 | A | G | 56400089 | - | | | NM_001374736.1(DST):c.16771-11G>A | 667 | DST | Likely benign | -1 | RCV002156484; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56400101 | 56400101 | C | T | 56400101 | - | | | NM_001374736.1(DST):c.16770+17del | 667 | DST | Benign | -1 | RCV002127746; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401560 | 56401560 | AG | A | 56401559 | - | | | NM_001374736.1(DST):c.16770+11C>T | 667 | DST | Likely benign | -1 | RCV001941663; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56401566 | 56401566 | G | A | 56401566 | - | | | NM_001374736.1(DST):c.16770+9C>G | 667 | DST | Likely benign | -1 | RCV002164834; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56401568 | 56401568 | G | C | 56401568 | - | | | NM_001374736.1(DST):c.16770+5T>C | 667 | DST | Uncertain significance | -1 | RCV001362114; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401572 | 56401572 | A | G | 56401572 | - | | | NM_001374736.1(DST):c.16763A>G (p.Asn5588Ser) | 667 | DST | Uncertain significance | -1 | RCV001366281; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56401584 | 56401584 | T | C | 56401584 | - | | | NM_001374736.1(DST):c.16748G>A (p.Arg5583Gln) | 667 | DST | Uncertain significance | rs762460799 | RCV001244751; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401599 | 56401599 | C | T | 6:g.56401599C>T | - | | | NM_001374736.1(DST):c.16747C>T (p.Arg5583Trp) | 667 | DST | Uncertain significance | rs568055144 | RCV001311721|RCV001248337; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56401600 | 56401600 | G | A | 6:g.56401600G>A | - | | | NM_001374736.1(DST):c.16742A>G (p.Asn5581Ser) | 667 | DST | Uncertain significance | rs201488187 | RCV001243842; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401605 | 56401605 | T | C | 6:g.56401605T>C | - | | | NM_001374736.1(DST):c.16701C>T (p.Ser5567=) | 667 | DST | Likely benign | -1 | RCV001417331; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401646 | 56401646 | G | A | 56401646 | - | | | NM_001374736.1(DST):c.16656T>C (p.Asp5552=) | 667 | DST | Likely benign | -1 | RCV001436429; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401691 | 56401691 | A | G | 56401691 | - | | | NM_001374736.1(DST):c.16653A>C (p.Gln5551His) | 667 | DST | Likely benign | -1 | RCV002198283; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401694 | 56401694 | T | G | 56401694 | - | | | NM_001374736.1(DST):c.16634C>A (p.Pro5545His) | 667 | DST | Uncertain significance | rs776611722 | RCV001312948; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401713 | 56401713 | G | T | 56401713 | - | | | NM_001374736.1(DST):c.16609G>T (p.Val5537Leu) | 667 | DST | Uncertain significance | rs199836343 | RCV001243166; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401738 | 56401738 | C | A | 6:g.56401738C>A | - | | | NM_001374736.1(DST):c.16609-1G>T | 667 | DST | Likely pathogenic | -1 | RCV001979595; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56401739 | 56401739 | C | A | 56401739 | - | | | NM_001374736.1(DST):c.16609-7A>C | 667 | DST | Likely benign | -1 | RCV001478273; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401745 | 56401745 | T | G | 56401745 | - | | | NM_001374736.1(DST):c.16609-14T>C | 667 | DST | Likely benign | -1 | RCV002117534; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56401752 | 56401752 | A | G | 56401752 | - | | | NM_001374736.1(DST):c.16608+15A>G | 667 | DST | Likely benign | -1 | RCV002137504; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56416967 | 56416967 | T | C | 56416967 | - | | | NM_001374736.1(DST):c.16608+13T>C | 667 | DST | Benign | -1 | RCV002086782; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56416969 | 56416969 | A | G | 56416969 | - | | | NM_001374736.1(DST):c.16608+1G>A | 667 | DST | Likely pathogenic | -1 | RCV002026258; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56416981 | 56416981 | C | T | 56416981 | - | | | NM_001374736.1(DST):c.16592A>T (p.Gln5531Leu) | 667 | DST | Uncertain significance | rs756517173 | RCV001243368; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56416998 | 56416998 | T | A | 6:g.56416998T>A | - | | | NM_001374736.1(DST):c.16579A>G (p.Thr5527Ala) | 667 | DST | Uncertain significance | rs1350777647 | RCV001320750; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417011 | 56417011 | T | C | 56417011 | - | | | NM_001374736.1(DST):c.16575G>A (p.Thr5525=) | 667 | DST | Benign | rs188035465 | RCV000979592; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417015 | 56417015 | C | T | 6:g.56417015C>T | - | | | NM_001374736.1(DST):c.16574C>T (p.Thr5525Met) | 667 | DST | Uncertain significance | rs756527130 | RCV001244421; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417016 | 56417016 | G | A | 6:g.56417016G>A | - | | | NM_001374736.1(DST):c.16572A>G (p.Glu5524=) | 667 | DST | Likely benign | -1 | RCV001400373; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417018 | 56417018 | T | C | 56417018 | - | | | NM_001374736.1(DST):c.16565G>A (p.Gly5522Asp) | 667 | DST | Uncertain significance | -1 | RCV001928882; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417025 | 56417025 | C | T | 56417025 | - | | | NM_001374736.1(DST):c.16562T>G (p.Val5521Gly) | 667 | DST | Uncertain significance | rs746708808 | RCV000819971; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417028 | 56417028 | A | C | 6:g.56417028A>C | - | | | NM_001374736.1(DST):c.16540C>G (p.His5514Asp) | 667 | DST | Uncertain significance | -1 | RCV001949889; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417050 | 56417050 | G | C | 56417050 | - | | | NM_001374736.1(DST):c.16534G>A (p.Glu5512Lys) | 667 | DST | Uncertain significance | rs375888742 | RCV001245162; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417056 | 56417056 | C | T | 6:g.56417056C>T | - | | | NM_001374736.1(DST):c.16533C>T (p.Ala5511=) | 667 | DST | Likely benign | -1 | RCV002156179; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417057 | 56417057 | G | A | 56417057 | - | | | NM_001374736.1(DST):c.16498A>C (p.Lys5500Gln) | 667 | DST | Uncertain significance | -1 | RCV002001256; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417092 | 56417092 | T | G | 56417092 | - | | | NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys) | 667 | DST | Likely benign | rs180765536 | RCV000979078; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417095 | 56417095 | T | A | 6:g.56417095T>A | - | | | NM_001374736.1(DST):c.16478G>A (p.Arg5493His) | 667 | DST | Uncertain significance | rs754436072 | RCV001247704; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417112 | 56417112 | C | T | 6:g.56417112C>T | - | | | NM_001374736.1(DST):c.16477C>T (p.Arg5493Cys) | 667 | DST | Uncertain significance | rs186499004 | RCV001242954; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417113 | 56417113 | G | A | 6:g.56417113G>A | - | | | NM_001374736.1(DST):c.16471A>G (p.Ile5491Val) | 667 | DST | Uncertain significance | rs754589018 | RCV001239512; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417119 | 56417119 | T | C | 6:g.56417119T>C | - | | | NM_001374736.1(DST):c.16465G>A (p.Gly5489Arg) | 667 | DST | Uncertain significance | -1 | RCV001359633; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417125 | 56417125 | C | T | 56417125 | - | | | NM_001374736.1(DST):c.16464A>C (p.Glu5488Asp) | 667 | DST | Uncertain significance | rs2097339072 | RCV001241534; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417126 | 56417126 | T | G | 6:g.56417126T>G | - | | | NM_001374736.1(DST):c.16435C>T (p.Arg5479Ter) | 667 | DST | Pathogenic | -1 | RCV001918214; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417155 | 56417155 | G | A | 56417155 | - | | | NM_001374736.1(DST):c.16409G>A (p.Ser5470Asn) | 667 | DST | Uncertain significance | -1 | RCV002047389; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417181 | 56417181 | C | T | 56417181 | - | | | NM_001374736.1(DST):c.16401G>A (p.Glu5467=) | 667 | DST | Likely benign | -1 | RCV001490266; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417189 | 56417189 | C | T | 56417189 | - | | | NM_001374736.1(DST):c.16398G>A (p.Leu5466=) | 667 | DST | Benign | -1 | RCV001514394|RCV001712921; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56417192 | 56417192 | C | T | 56417192 | - | | | NM_001374736.1(DST):c.16392G>A (p.Arg5464=) | 667 | DST | Likely benign | -1 | RCV001493593; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417198 | 56417198 | C | T | 56417198 | - | | | NM_001374736.1(DST):c.16377T>C (p.Leu5459=) | 667 | DST | Likely benign | -1 | RCV001484815; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417213 | 56417213 | A | G | 56417213 | - | | | NM_001374736.1(DST):c.16365C>T (p.Thr5455=) | 667 | DST | Likely benign | -1 | RCV001418541; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417225 | 56417225 | G | A | 56417225 | - | | | NM_001374736.1(DST):c.16363A>T (p.Thr5455Ser) | 667 | DST | Uncertain significance | rs1348429203 | RCV001242565; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417227 | 56417227 | T | A | 6:g.56417227T>A | - | | | NM_001374736.1(DST):c.16342A>G (p.Met5448Val) | 667 | DST | Uncertain significance | rs202185251 | RCV001248188; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417248 | 56417248 | T | C | 6:g.56417248T>C | - | | | NM_001374736.1(DST):c.16328A>G (p.Asn5443Ser) | 667 | DST | Uncertain significance | -1 | RCV002038304; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417262 | 56417262 | T | C | 56417262 | - | | | NM_001374736.1(DST):c.16324G>A (p.Ala5442Thr) | 667 | DST | Uncertain significance | -1 | RCV001359110; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417266 | 56417266 | C | T | 56417266 | - | | | NM_001374736.1(DST):c.16323T>C (p.Asn5441=) | 667 | DST | Benign | -1 | RCV001521193; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417267 | 56417267 | A | G | 56417267 | - | | | NM_001374736.1(DST):c.16314C>G (p.Ser5438Arg) | 667 | DST | Uncertain significance | rs750722953 | RCV001323598; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417276 | 56417276 | G | C | 56417276 | - | | | NM_001374736.1(DST):c.16308G>A (p.Met5436Ile) | 667 | DST | Benign | rs4715630 | RCV000603185|RCV001510448|RCV001692226|RCV001662662|RCV001701394; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:6154 | 6 | 56417282 | 56417282 | C | T | 6:g.56417282C>T | ClinGen:CA3867697 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.16306A>T (p.Met5436Leu) | 667 | DST | Uncertain significance | -1 | RCV001363291; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417284 | 56417284 | T | A | 56417284 | - | | | NM_001374736.1(DST):c.16306A>C (p.Met5436Leu) | 667 | DST | Uncertain significance | -1 | RCV001986467; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417284 | 56417284 | T | G | 56417284 | - | | | NM_001374736.1(DST):c.16304T>C (p.Leu5435Pro) | 667 | DST | Uncertain significance | -1 | RCV001996814; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417286 | 56417286 | A | G | 56417286 | - | | | NM_001374736.1(DST):c.16298A>G (p.Glu5433Gly) | 667 | DST | Uncertain significance | rs1275382438 | RCV001348816; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417292 | 56417292 | T | C | 56417292 | - | | | NM_001374736.1(DST):c.16236G>A (p.Gly5412=) | 667 | DST | Likely benign | -1 | RCV001392407; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417354 | 56417354 | C | T | 56417354 | - | | | NM_001374736.1(DST):c.16235G>A (p.Gly5412Glu) | 667 | DST | Uncertain significance | rs775546048 | RCV001320133; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417355 | 56417355 | C | T | 56417355 | - | | | NM_001374736.1(DST):c.16233G>C (p.Val5411=) | 667 | DST | Likely benign | -1 | RCV001481965; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417357 | 56417357 | C | G | 56417357 | - | | | NM_001374736.1(DST):c.16221C>A (p.Ser5407Arg) | 667 | DST | Uncertain significance | -1 | RCV001369577; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417369 | 56417369 | G | T | 56417369 | - | | | NM_001374736.1(DST):c.16195G>A (p.Ala5399Thr) | 667 | DST | Uncertain significance | rs553940584 | RCV001245229; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417395 | 56417395 | C | T | 6:g.56417395C>T | - | | | NM_001374736.1(DST):c.16195G>T (p.Ala5399Ser) | 667 | DST | Uncertain significance | rs553940584 | RCV001349226; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417395 | 56417395 | C | A | 56417395 | - | | | NM_001374736.1(DST):c.16194C>T (p.Phe5398=) | 667 | DST | Likely benign | -1 | RCV001483486; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417396 | 56417396 | G | A | 56417396 | - | | | NM_001374736.1(DST):c.16179A>G (p.Glu5393=) | 667 | DST | Likely benign | -1 | RCV002103722; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417411 | 56417411 | T | C | 56417411 | - | | | NM_001374736.1(DST):c.16175G>A (p.Arg5392Gln) | 667 | DST | Uncertain significance | rs201501487 | RCV001245025; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417415 | 56417415 | C | T | 6:g.56417415C>T | - | | | NM_001374736.1(DST):c.16174C>G (p.Arg5392Gly) | 667 | DST | Uncertain significance | rs755738894 | RCV001246992; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417416 | 56417416 | G | C | 6:g.56417416G>C | - | | | NM_001374736.1(DST):c.16174C>T (p.Arg5392Ter) | 667 | DST | Pathogenic | -1 | RCV001950928; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417416 | 56417416 | G | A | 56417416 | - | | | NM_001374736.1(DST):c.16169C>T (p.Thr5390Ile) | 667 | DST | Uncertain significance | -1 | RCV001962446; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417421 | 56417421 | G | A | 56417421 | - | | | NM_001374736.1(DST):c.16148G>A (p.Gly5383Asp) | 667 | DST | Uncertain significance | rs1489999843 | RCV001320078; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417442 | 56417442 | C | T | 56417442 | - | | | NM_001374736.1(DST):c.16116A>G (p.Glu5372=) | 667 | DST | Likely benign | -1 | RCV002210567; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417474 | 56417474 | T | C | 56417474 | - | | | NM_001374736.1(DST):c.16088A>G (p.His5363Arg) | 667 | DST | Uncertain significance | -1 | RCV001992856; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417502 | 56417502 | T | C | 56417502 | - | | | NM_001374736.1(DST):c.16078G>A (p.Ala5360Thr) | 667 | DST | Uncertain significance | rs779849952 | RCV001245916; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417512 | 56417512 | C | T | 6:g.56417512C>T | - | | | NM_001374736.1(DST):c.16070A>G (p.Glu5357Gly) | 667 | DST | Uncertain significance | -1 | RCV002008241; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417520 | 56417520 | T | C | 56417520 | - | | | NM_001374736.1(DST):c.16065A>G (p.Gln5355=) | 667 | DST | Likely benign | -1 | RCV001469378; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417525 | 56417525 | T | C | 56417525 | - | | | NM_001374736.1(DST):c.16059A>T (p.Leu5353Phe) | 667 | DST | Uncertain significance | -1 | RCV001892887; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417531 | 56417531 | T | A | 56417531 | - | | | NM_001374736.1(DST):c.16052A>C (p.Asp5351Ala) | 667 | DST | Uncertain significance | rs1287393894 | RCV001245368; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417538 | 56417538 | T | G | 6:g.56417538T>G | - | | | NM_001374736.1(DST):c.16047C>G (p.Thr5349=) | 667 | DST | Likely benign | rs370841140 | RCV000979752|RCV001726403; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56417543 | 56417543 | G | C | 6:g.56417543G>C | - | | | NM_001374736.1(DST):c.16045A>G (p.Thr5349Ala) | 667 | DST | Benign | rs4715631 | RCV000608135|RCV001510449|RCV001662663|RCV001692227|RCV001701395; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121 | 6 | 56417545 | 56417545 | T | C | NC_000006.11:g.56417545T>C | ClinGen:CA3867736 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.16034A>G (p.Asp5345Gly) | 667 | DST | Uncertain significance | rs749976441 | RCV001245721; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417556 | 56417556 | T | C | 6:g.56417556T>C | - | | | NM_001374736.1(DST):c.16008A>C (p.Ala5336=) | 667 | DST | Likely benign | -1 | RCV001502908; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417582 | 56417582 | T | G | 56417582 | - | | | NM_001374736.1(DST):c.15941T>G (p.Met5314Arg) | 667 | DST | Uncertain significance | rs1325893287 | RCV001313692; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417649 | 56417649 | A | C | 56417649 | - | | | NM_001374736.1(DST):c.15903G>T (p.Ser5301=) | 667 | DST | Likely benign | -1 | RCV001417144; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417687 | 56417687 | C | A | 56417687 | - | | | NM_001374736.1(DST):c.15903G>A (p.Ser5301=) | 667 | DST | Likely benign | -1 | RCV001443655; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417687 | 56417687 | C | T | 56417687 | - | | | NM_001374736.1(DST):c.15902C>T (p.Ser5301Leu) | 667 | DST | Uncertain significance | rs112177059 | RCV000488374|RCV001243783; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417688 | 56417688 | G | A | 6:g.56417688G>A | ClinGen:CA3867760 | CN517202 not provided; | | NM_001374736.1(DST):c.15898G>A (p.Asp5300Asn) | 667 | DST | Uncertain significance | rs200661658 | RCV001298258; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417692 | 56417692 | C | T | 56417692 | - | | | NM_001374736.1(DST):c.15897T>C (p.His5299=) | 667 | DST | Likely benign | -1 | RCV001451341; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417693 | 56417693 | A | G | 56417693 | - | | | NM_001374736.1(DST):c.15888A>G (p.Leu5296=) | 667 | DST | Likely benign | -1 | RCV001431514; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417702 | 56417702 | T | C | 56417702 | - | | | NM_001374736.1(DST):c.15880G>A (p.Glu5294Lys) | 667 | DST | Uncertain significance | -1 | RCV001871245; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417710 | 56417710 | C | T | 56417710 | - | | | NM_001374736.1(DST):c.15877A>G (p.Lys5293Glu) | 667 | DST | Uncertain significance | rs888556461 | RCV001241123; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417713 | 56417713 | T | C | 6:g.56417713T>C | - | | | NM_001374736.1(DST):c.15872G>A (p.Cys5291Tyr) | 667 | DST | Uncertain significance | -1 | RCV001940068; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417718 | 56417718 | C | T | 56417718 | - | | | NM_001374736.1(DST):c.15861G>A (p.Arg5287=) | 667 | DST | Benign | rs58928900 | RCV000979007|RCV001712830; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56417729 | 56417729 | C | T | 6:g.56417729C>T | - | | | NM_001374736.1(DST):c.15854C>T (p.Ser5285Phe) | 667 | DST | Uncertain significance | -1 | RCV001918544; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417736 | 56417736 | G | A | 56417736 | - | | | NM_001374736.1(DST):c.15836AAG[1] (p.Glu5280del) | 667 | DST | Uncertain significance | rs1233181836 | RCV001243843; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417749 | 56417751 | ACTT | A | 6:g.56417749_56417751del | - | | | NM_001374736.1(DST):c.15836A>G (p.Gln5279Arg) | 667 | DST | Uncertain significance | -1 | RCV001928532; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417754 | 56417754 | T | C | 56417754 | - | | | NM_001374736.1(DST):c.15825T>C (p.Phe5275=) | 667 | DST | Likely benign | -1 | RCV001405650; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417765 | 56417765 | A | G | 56417765 | - | | | NM_001374736.1(DST):c.15804G>A (p.Leu5268=) | 667 | DST | Likely benign | -1 | RCV001395643; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417786 | 56417786 | C | T | 56417786 | - | | | NM_001374736.1(DST):c.15788G>A (p.Ser5263Asn) | 667 | DST | Uncertain significance | rs374575683 | RCV001247836|RCV001508545; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56417802 | 56417802 | C | T | 6:g.56417802C>T | - | | | NM_001374736.1(DST):c.15784C>T (p.His5262Tyr) | 667 | DST | Uncertain significance | -1 | RCV001928890; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417806 | 56417806 | G | A | 56417806 | - | | | NM_001374736.1(DST):c.15781C>A (p.Leu5261Ile) | 667 | DST | Uncertain significance | rs762522099 | RCV001240405; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417809 | 56417809 | G | T | 6:g.56417809G>T | - | | | NM_001374736.1(DST):c.15766A>G (p.Met5256Val) | 667 | DST | Uncertain significance | -1 | RCV002041785; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417824 | 56417824 | T | C | 56417824 | - | | | NM_001374736.1(DST):c.15765C>T (p.Asp5255=) | 667 | DST | Likely benign | -1 | RCV001467258; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417825 | 56417825 | G | A | 56417825 | - | | | NM_001374736.1(DST):c.15734A>T (p.Asp5245Val) | 667 | DST | Uncertain significance | rs1248294838 | RCV001348840; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417856 | 56417856 | T | A | 56417856 | - | | | NM_001374736.1(DST):c.15714A>G (p.Ile5238Met) | 667 | DST | Uncertain significance | -1 | RCV002030640; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417876 | 56417876 | T | C | 56417876 | - | | | NM_001374736.1(DST):c.15711G>A (p.Glu5237=) | 667 | DST | Likely benign | -1 | RCV001433295; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417879 | 56417879 | C | T | 56417879 | - | | | NM_001374736.1(DST):c.15709G>A (p.Glu5237Lys) | 667 | DST | Uncertain significance | rs2097347589 | RCV001245230; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417881 | 56417881 | C | T | 6:g.56417881C>T | - | | | NM_001374736.1(DST):c.15699C>T (p.Leu5233=) | 667 | DST | Likely benign | -1 | RCV002209358; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417891 | 56417891 | G | A | 56417891 | - | | | NM_001374736.1(DST):c.15696G>A (p.Leu5232=) | 667 | DST | Likely benign | -1 | RCV001413182; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417894 | 56417894 | C | T | 56417894 | - | | | NM_001374736.1(DST):c.15690T>C (p.Asn5230=) | 667 | DST | Likely benign | -1 | RCV002163198; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417900 | 56417900 | A | G | 56417900 | - | | | NM_001374736.1(DST):c.15670T>G (p.Leu5224Val) | 667 | DST | Uncertain significance | rs2097348097 | RCV001241252; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417920 | 56417920 | A | C | 6:g.56417920A>C | - | | | NM_001374736.1(DST):c.15653A>C (p.His5218Pro) | 667 | DST | Uncertain significance | rs2097348376 | RCV001247903; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56417937 | 56417937 | T | G | 6:g.56417937T>G | - | | | NM_001374736.1(DST):c.15624A>G (p.Leu5208=) | 667 | DST | Likely benign | -1 | RCV002159430; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417966 | 56417966 | T | C | 56417966 | - | | | NM_001374736.1(DST):c.15602G>C (p.Gly5201Ala) | 667 | DST | Uncertain significance | rs763915802 | RCV001248339; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56417988 | 56417988 | C | G | 6:g.56417988C>G | - | | | NM_001374736.1(DST):c.15586T>C (p.Leu5196=) | 667 | DST | Benign | rs200133509 | RCV000979015; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418004 | 56418004 | A | G | 6:g.56418004A>G | - | | | NM_001374736.1(DST):c.15584G>A (p.Cys5195Tyr) | 667 | DST | Benign | rs57472891 | RCV000979008|RCV001692330; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56418006 | 56418006 | C | T | 6:g.56418006C>T | - | | | NM_001374736.1(DST):c.15570G>A (p.Glu5190=) | 667 | DST | Benign | rs200941177 | RCV000979013; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418020 | 56418020 | C | T | 6:g.56418020C>T | - | | | NM_001374736.1(DST):c.15564C>T (p.Asn5188=) | 667 | DST | Likely benign | -1 | RCV001414096; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418026 | 56418026 | G | A | 56418026 | - | | | NM_001374736.1(DST):c.15540A>G (p.Pro5180=) | 667 | DST | Likely benign | -1 | RCV002090868; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418050 | 56418050 | T | C | 56418050 | - | | | NM_001374736.1(DST):c.15534C>T (p.Leu5178=) | 667 | DST | Likely benign | -1 | RCV002167677; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418056 | 56418056 | G | A | 56418056 | - | | | NM_001374736.1(DST):c.15528G>T (p.Glu5176Asp) | 667 | DST | Uncertain significance | -1 | RCV001365638; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418062 | 56418062 | C | A | 56418062 | - | | | NM_001374736.1(DST):c.15526G>C (p.Glu5176Gln) | 667 | DST | Uncertain significance | rs770419341 | RCV001244481; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418064 | 56418064 | C | G | 6:g.56418064C>G | - | | | NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp) | 667 | DST | Uncertain significance | -1 | RCV001911550; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418101 | 56418101 | C | G | 56418101 | - | | | NM_001374736.1(DST):c.15486A>G (p.Lys5162=) | 667 | DST | Likely benign | rs1584777193 | RCV000983179; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418104 | 56418104 | T | C | 6:g.56418104T>C | - | | | NM_001374736.1(DST):c.15465A>G (p.Lys5155=) | 667 | DST | Likely benign | -1 | RCV002102783; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418125 | 56418125 | T | C | 56418125 | - | | | NM_001374736.1(DST):c.15446C>T (p.Thr5149Ile) | 667 | DST | Uncertain significance | rs369194519 | RCV001245233; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418144 | 56418144 | G | A | 6:g.56418144G>A | - | | | NM_001374736.1(DST):c.15426A>G (p.Thr5142=) | 667 | DST | Likely benign | rs767246314 | RCV000981895; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418164 | 56418164 | T | C | 6:g.56418164T>C | - | | | NM_001374736.1(DST):c.15406T>G (p.Leu5136Val) | 667 | DST | Uncertain significance | rs750727762 | RCV001327634; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418184 | 56418184 | A | C | 56418184 | - | | | NM_001374736.1(DST):c.15398A>G (p.Lys5133Arg) | 667 | DST | Uncertain significance | -1 | RCV001901028; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418192 | 56418192 | T | C | 56418192 | - | | | NM_001374736.1(DST):c.15376T>C (p.Leu5126=) | 667 | DST | Likely benign | -1 | RCV001492401; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418214 | 56418214 | A | G | 56418214 | - | | | NM_001374736.1(DST):c.15360del (p.Gly5121fs) | 667 | DST | Pathogenic | -1 | RCV001872177; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418230 | 56418230 | CT | C | 56418229 | - | | | NM_001374736.1(DST):c.15356C>T (p.Ala5119Val) | 667 | DST | Uncertain significance | -1 | RCV001887817; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418234 | 56418234 | G | A | 56418234 | - | | | NM_001374736.1(DST):c.15353T>C (p.Ile5118Thr) | 667 | DST | Uncertain significance | -1 | RCV001914752; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418237 | 56418237 | A | G | 56418237 | - | | | NM_001374736.1(DST):c.15341A>G (p.Tyr5114Cys) | 667 | DST | Uncertain significance | rs866453035 | RCV001245719; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418249 | 56418249 | T | C | 6:g.56418249T>C | - | | | NM_001374736.1(DST):c.15334C>A (p.His5112Asn) | 667 | DST | Uncertain significance | rs2097351978 | RCV001239996; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418256 | 56418256 | G | T | 6:g.56418256G>T | - | | | NM_001374736.1(DST):c.15327T>C (p.Ala5109=) | 667 | DST | Likely benign | -1 | RCV001467256; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418263 | 56418263 | A | G | 56418263 | - | | | NM_001374736.1(DST):c.15327T>A (p.Ala5109=) | 667 | DST | Likely benign | -1 | RCV002090228; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418263 | 56418263 | A | T | 56418263 | - | | | NM_001374736.1(DST):c.15310A>G (p.Ser5104Gly) | 667 | DST | Uncertain significance | -1 | RCV001922548; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418280 | 56418280 | T | C | 56418280 | - | | | NM_001374736.1(DST):c.15309T>A (p.Phe5103Leu) | 667 | DST | Uncertain significance | rs191081991 | RCV000625440|RCV000998632|RCV001240921; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418281 | 56418281 | A | T | 6:g.56418281A>T | ClinGen:CA3867837 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.15308T>C (p.Phe5103Ser) | 667 | DST | Uncertain significance | -1 | RCV001899540; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418282 | 56418282 | A | G | 56418282 | - | | | NM_001374736.1(DST):c.15300T>A (p.His5100Gln) | 667 | DST | Uncertain significance | -1 | RCV001362112; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418290 | 56418290 | A | T | 56418290 | - | | | NM_001374736.1(DST):c.15299A>G (p.His5100Arg) | 667 | DST | Uncertain significance | -1 | RCV001939767; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418291 | 56418291 | T | C | 56418291 | - | | | NM_001374736.1(DST):c.15271G>A (p.Asp5091Asn) | 667 | DST | Uncertain significance | rs148831744 | RCV001239511|RCV001810003; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418319 | 56418319 | C | T | 6:g.56418319C>T | - | | | NM_001374736.1(DST):c.15262G>A (p.Ala5088Thr) | 667 | DST | Uncertain significance | rs2097352781 | RCV001248042; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418328 | 56418328 | C | T | 6:g.56418328C>T | - | | | NM_001374736.1(DST):c.15242A>T (p.Asn5081Ile) | 667 | DST | Uncertain significance | rs537433450 | RCV001248469; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418348 | 56418348 | T | A | 6:g.56418348T>A | - | | | NM_001374736.1(DST):c.15216G>A (p.Trp5072Ter) | 667 | DST | Pathogenic/Likely pathogenic | rs893650971 | RCV000521976|RCV001244880; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418374 | 56418374 | C | T | 6:g.56418374C>T | ClinGen:CA364517866 | CN517202 not provided; | | NM_001374736.1(DST):c.15216G>C (p.Trp5072Cys) | 667 | DST | Uncertain significance | -1 | RCV001945821; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418374 | 56418374 | C | G | 56418374 | - | | | NM_001374736.1(DST):c.15203A>T (p.Asp5068Val) | 667 | DST | Uncertain significance | rs2097353414 | RCV001299644; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418387 | 56418387 | T | A | 56418387 | - | | | NM_001374736.1(DST):c.15199A>G (p.Arg5067Gly) | 667 | DST | Uncertain significance | rs768224900 | RCV001246393; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418391 | 56418391 | T | C | 6:g.56418391T>C | - | | | NM_001374736.1(DST):c.15191A>G (p.Gln5064Arg) | 667 | DST | Benign/Likely benign | rs143438011 | RCV000979026|RCV001766802; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56418399 | 56418399 | T | C | 6:g.56418399T>C | - | | | NM_001374736.1(DST):c.15174C>T (p.Ser5058=) | 667 | DST | Benign | -1 | RCV001517026; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418416 | 56418416 | G | A | 56418416 | - | | | NM_001374736.1(DST):c.15170C>T (p.Ala5057Val) | 667 | DST | Uncertain significance | -1 | RCV001990280; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418420 | 56418420 | G | A | 56418420 | - | | | NM_001374736.1(DST):c.15163G>A (p.Ala5055Thr) | 667 | DST | Uncertain significance | -1 | RCV001998528; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418427 | 56418427 | C | T | 56418427 | - | | | NM_001374736.1(DST):c.15162G>A (p.Ser5054=) | 667 | DST | Likely benign | -1 | RCV002116742; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418428 | 56418428 | C | T | 56418428 | - | | | NM_001374736.1(DST):c.15161C>T (p.Ser5054Leu) | 667 | DST | Uncertain significance | -1 | RCV001880947; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56418429 | 56418429 | G | A | 56418429 | - | | | NM_001374736.1(DST):c.15159G>T (p.Gln5053His) | 667 | DST | Uncertain significance | -1 | RCV001904969; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418431 | 56418431 | C | A | 56418431 | - | | | NM_001374736.1(DST):c.15147C>G (p.Val5049=) | 667 | DST | Likely benign | -1 | RCV002179175; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418443 | 56418443 | G | C | 56418443 | - | | | NM_001374736.1(DST):c.15143A>T (p.His5048Leu) | 667 | DST | Uncertain significance | -1 | RCV002022293; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56418447 | 56418447 | T | A | 56418447 | - | | | NM_001374736.1(DST):c.15121G>A (p.Val5041Ile) | 667 | DST | Benign | -1 | RCV001510456|RCV001685372; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56420158 | 56420158 | C | T | 56420158 | - | | | NM_001374736.1(DST):c.15092T>A (p.Leu5031Gln) | 667 | DST | Uncertain significance | -1 | RCV001363050; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420187 | 56420187 | A | T | 56420187 | - | | | NM_001374736.1(DST):c.15085A>G (p.Arg5029Gly) | 667 | DST | Uncertain significance | rs2097397900 | RCV001246126; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420194 | 56420194 | T | C | 6:g.56420194T>C | - | | | NM_001374736.1(DST):c.15083G>A (p.Ser5028Asn) | 667 | DST | Uncertain significance | -1 | RCV001950543; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420196 | 56420196 | C | T | 56420196 | - | | | NM_001374736.1(DST):c.15057A>C (p.Lys5019Asn) | 667 | DST | Uncertain significance | rs952108992 | RCV001246993; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420222 | 56420222 | T | G | 6:g.56420222T>G | - | | | NM_001374736.1(DST):c.15028C>G (p.Leu5010Val) | 667 | DST | Uncertain significance | -1 | RCV001889385; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420251 | 56420251 | G | C | 56420251 | - | | | NM_001374736.1(DST):c.15004A>C (p.Lys5002Gln) | 667 | DST | Likely benign | -1 | RCV001484809; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420275 | 56420275 | T | G | 56420275 | - | | | NM_001374736.1(DST):c.14972A>C (p.Gln4991Pro) | 667 | DST | Uncertain significance | rs2097399604 | RCV001239100; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420307 | 56420307 | T | G | 6:g.56420307T>G | - | | | NM_001374736.1(DST):c.14959T>C (p.Leu4987=) | 667 | DST | Benign | rs78470764 | RCV000979576; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420320 | 56420320 | A | G | 6:g.56420320A>G | - | | | NM_001374736.1(DST):c.14952C>T (p.Asn4984=) | 667 | DST | Likely benign | -1 | RCV002099271; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420327 | 56420327 | G | A | 56420327 | - | | | NM_001374736.1(DST):c.14951A>G (p.Asn4984Ser) | 667 | DST | Uncertain significance | rs751619980 | RCV001246729; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420328 | 56420328 | T | C | 6:g.56420328T>C | - | | | NM_001374736.1(DST):c.14947A>G (p.Met4983Val) | 667 | DST | Uncertain significance | rs188156383 | RCV001246730; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420332 | 56420332 | T | C | 6:g.56420332T>C | - | | | NM_001374736.1(DST):c.14947A>C (p.Met4983Leu) | 667 | DST | Uncertain significance | rs188156383 | RCV001248470; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420332 | 56420332 | T | G | 6:g.56420332T>G | - | | | NM_001374736.1(DST):c.14944G>A (p.Ala4982Thr) | 667 | DST | Uncertain significance | -1 | RCV001884821; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420335 | 56420335 | C | T | 56420335 | - | | | NM_001374736.1(DST):c.14937C>T (p.His4979=) | 667 | DST | Likely benign | -1 | RCV001488166; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420342 | 56420342 | G | A | 56420342 | - | | | NM_001374736.1(DST):c.14936A>G (p.His4979Arg) | 667 | DST | Uncertain significance | rs763236400 | RCV001244360; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420343 | 56420343 | T | C | 6:g.56420343T>C | - | | | NM_001374736.1(DST):c.14934G>A (p.Thr4978=) | 667 | DST | Likely benign | -1 | RCV001413657; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420345 | 56420345 | C | T | 56420345 | - | | | NM_001374736.1(DST):c.14933C>T (p.Thr4978Met) | 667 | DST | Uncertain significance | rs202121891 | RCV001245166; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420346 | 56420346 | G | A | 6:g.56420346G>A | - | | | NM_001374736.1(DST):c.14880T>C (p.Ser4960=) | 667 | DST | Likely benign | -1 | RCV001466429; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420399 | 56420399 | A | G | 56420399 | - | | | NM_001374736.1(DST):c.14874C>A (p.Ser4958Arg) | 667 | DST | Uncertain significance | rs746641066 | RCV001243635; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420405 | 56420405 | G | T | 6:g.56420405G>T | - | | | NM_001374736.1(DST):c.14874C>G (p.Ser4958Arg) | 667 | DST | Uncertain significance | -1 | RCV001984644; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420405 | 56420405 | G | C | 56420405 | - | | | NM_001374736.1(DST):c.14861G>A (p.Ser4954Asn) | 667 | DST | Uncertain significance | rs1360966681 | RCV001322234; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420418 | 56420418 | C | T | 56420418 | - | | | NM_001374736.1(DST):c.14815T>G (p.Cys4939Gly) | 667 | DST | Uncertain significance | -1 | RCV001986697; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420464 | 56420464 | A | C | 56420464 | - | | | NM_001374736.1(DST):c.14800C>A (p.Gln4934Lys) | 667 | DST | Uncertain significance | rs199936602 | RCV001241612; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420479 | 56420479 | G | T | 6:g.56420479G>T | - | | | NM_001374736.1(DST):c.14772G>A (p.Val4924=) | 667 | DST | Likely benign | -1 | RCV001409186; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420507 | 56420507 | C | T | 56420507 | - | | | NM_001374736.1(DST):c.14741G>A (p.Arg4914His) | 667 | DST | Benign | -1 | RCV001510453|RCV001664909|RCV001664908|RCV001655738; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143 | 6 | 56420538 | 56420538 | C | T | 56420538 | - | | | NM_001374736.1(DST):c.14735C>T (p.Ser4912Phe) | 667 | DST | Uncertain significance | -1 | RCV002025755; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420544 | 56420544 | G | A | 56420544 | - | | | NM_001374736.1(DST):c.14731C>A (p.Pro4911Thr) | 667 | DST | Uncertain significance | rs201412680 | RCV001324123|RCV001332914|RCV001508546; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56420548 | 56420548 | G | T | 56420548 | - | | | NM_001374736.1(DST):c.14726A>G (p.Glu4909Gly) | 667 | DST | Uncertain significance | -1 | RCV001895320; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420553 | 56420553 | T | C | 56420553 | - | | | NM_001374736.1(DST):c.14725G>A (p.Glu4909Lys) | 667 | DST | Uncertain significance | -1 | RCV001967637; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420554 | 56420554 | C | T | 56420554 | - | | | NM_001374736.1(DST):c.14718G>A (p.Arg4906=) | 667 | DST | Likely benign | -1 | RCV001416915; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420561 | 56420561 | C | T | 56420561 | - | | | NM_001374736.1(DST):c.14709T>A (p.Ile4903=) | 667 | DST | Likely benign | -1 | RCV001414085; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420570 | 56420570 | A | T | 56420570 | - | | | NM_001374736.1(DST):c.14688G>A (p.Leu4896=) | 667 | DST | Likely benign | -1 | RCV001429271; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420591 | 56420591 | C | T | 56420591 | - | | | NM_001374736.1(DST):c.14686C>T (p.Leu4896=) | 667 | DST | Likely benign | -1 | RCV001506000; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420593 | 56420593 | G | A | 56420593 | - | | | NM_001374736.1(DST):c.14675A>G (p.Gln4892Arg) | 667 | DST | Uncertain significance | -1 | RCV002033419; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420604 | 56420604 | T | C | 56420604 | - | | | NM_001374736.1(DST):c.14661C>T (p.Ala4887=) | 667 | DST | Likely benign | -1 | RCV001479222; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420618 | 56420618 | G | A | 56420618 | - | | | NM_001374736.1(DST):c.14655A>G (p.Glu4885=) | 667 | DST | Likely benign | -1 | RCV001396875; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420624 | 56420624 | T | C | 56420624 | - | | | NM_001374736.1(DST):c.14646G>A (p.Leu4882=) | 667 | DST | Likely benign | -1 | RCV001437872; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420633 | 56420633 | C | T | 56420633 | - | | | NM_001374736.1(DST):c.14641-4T>G | 667 | DST | Likely benign | -1 | RCV001398506; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56420642 | 56420642 | A | C | 56420642 | - | | | NM_001374736.1(DST):c.14641-4T>C | 667 | DST | Likely benign | -1 | RCV001436024; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56420642 | 56420642 | A | G | 56420642 | - | | | NM_001374736.1(DST):c.14640+19C>T | 667 | DST | Likely benign | -1 | RCV002137845; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422098 | 56422098 | G | A | 56422098 | - | | | NM_001374736.1(DST):c.14640+8T>G | 667 | DST | Likely benign | -1 | RCV002124131; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422109 | 56422109 | A | C | 56422109 | - | | | NM_001374736.1(DST):c.14640+5G>A | 667 | DST | Uncertain significance | rs2097441805 | RCV001243499; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422112 | 56422112 | C | T | 6:g.56422112C>T | - | | | NM_001374736.1(DST):c.14637G>A (p.Val4879=) | 667 | DST | Uncertain significance | rs765614214 | RCV001303200; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422120 | 56422120 | C | T | 56422120 | - | | | NM_001374736.1(DST):c.14636T>G (p.Val4879Gly) | 667 | DST | Uncertain significance | rs2097442163 | RCV001316549; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422121 | 56422121 | A | C | 56422121 | - | | | NM_001374736.1(DST):c.14601T>A (p.Ile4867=) | 667 | DST | Uncertain significance | -1 | RCV001893559; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422156 | 56422156 | A | T | 56422156 | - | | | NM_001374736.1(DST):c.14592C>T (p.Pro4864=) | 667 | DST | Likely benign | -1 | RCV001457665; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422165 | 56422165 | G | A | 56422165 | - | | | NM_001374736.1(DST):c.14574G>A (p.Met4858Ile) | 667 | DST | Uncertain significance | -1 | RCV001934503; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422183 | 56422183 | C | T | 56422183 | - | | | NM_001374736.1(DST):c.14542T>C (p.Leu4848=) | 667 | DST | Likely benign | -1 | RCV001462729; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422215 | 56422215 | A | G | 56422215 | - | | | NM_001374736.1(DST):c.14541A>G (p.Gln4847=) | 667 | DST | Benign | -1 | RCV001514397|RCV001655749; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56422216 | 56422216 | T | C | 56422216 | - | | | NM_001374736.1(DST):c.14532A>G (p.Val4844=) | 667 | DST | Likely benign | -1 | RCV002156006; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422225 | 56422225 | T | C | 56422225 | - | | | NM_001374736.1(DST):c.14530G>A (p.Val4844Ile) | 667 | DST | Uncertain significance | -1 | RCV001939733; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422227 | 56422227 | C | T | 56422227 | - | | | NM_001374736.1(DST):c.14515A>G (p.Thr4839Ala) | 667 | DST | Uncertain significance | rs371655301 | RCV001239102; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422242 | 56422242 | T | C | 6:g.56422242T>C | - | | | NM_001374736.1(DST):c.14510A>G (p.Asn4837Ser) | 667 | DST | Uncertain significance | rs1202507145 | RCV001246395; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422247 | 56422247 | T | C | 6:g.56422247T>C | - | | | NM_001374736.1(DST):c.14505C>T (p.Ser4835=) | 667 | DST | Likely benign | -1 | RCV002178404; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422252 | 56422252 | G | A | 56422252 | - | | | NM_001374736.1(DST):c.14501C>A (p.Ser4834Tyr) | 667 | DST | Uncertain significance | rs1290750029 | RCV001248531; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422256 | 56422256 | G | T | 6:g.56422256G>T | - | | | NM_001374736.1(DST):c.14495A>G (p.Glu4832Gly) | 667 | DST | Conflicting interpretations of pathogenicity | rs201437391 | RCV000998633|RCV001452152; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422262 | 56422262 | T | C | 6:g.56422262T>C | - | | | NM_001374736.1(DST):c.14461A>C (p.Asn4821His) | 667 | DST | Benign | rs139089184 | RCV000982198; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422296 | 56422296 | T | G | 6:g.56422296T>G | - | | | NM_001374736.1(DST):c.14452C>G (p.Gln4818Glu) | 667 | DST | Uncertain significance | -1 | RCV002015749; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422305 | 56422305 | G | C | 56422305 | - | | | NM_001374736.1(DST):c.14441-7_14441-6del | 667 | DST | Likely benign | -1 | RCV001410504; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56422322 | 56422323 | AAG | A | 56422321 | - | | | NM_001374736.1(DST):c.14441-7C>T | 667 | DST | Likely benign | -1 | RCV001493169|RCV001815567; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56422323 | 56422323 | G | A | 56422323 | - | | | NM_001374736.1(DST):c.14441-7del | 667 | DST | Benign/Likely benign | -1 | RCV001510457|RCV001732194; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56422323 | 56422323 | AG | A | 56422322 | - | | | NM_001374736.1(DST):c.14441-10T>C | 667 | DST | Likely benign | -1 | RCV001431544; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56422326 | 56422326 | A | G | 56422326 | - | | | NM_001374736.1(DST):c.14440+15T>G | 667 | DST | Likely benign | -1 | RCV002194388; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425077 | 56425077 | A | C | 56425077 | - | | | NM_001374736.1(DST):c.14440+10G>A | 667 | DST | Likely benign | rs375501871 | RCV000979880; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425082 | 56425082 | C | T | 6:g.56425082C>T | - | | | NM_001374736.1(DST):c.14440+9C>T | 667 | DST | Likely benign | -1 | RCV001483485; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425083 | 56425083 | G | A | 56425083 | - | | | NM_001374736.1(DST):c.14440+8G>A | 667 | DST | Likely benign | -1 | RCV001457073; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425084 | 56425084 | C | T | 56425084 | - | | | NM_001374736.1(DST):c.14440G>A (p.Asp4814Asn) | 667 | DST | Likely benign | -1 | RCV001501061; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425092 | 56425092 | C | T | 56425092 | - | | | NM_001374736.1(DST):c.14439A>G (p.Ile4813Met) | 667 | DST | Uncertain significance | rs373340565 | RCV000817186; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425093 | 56425093 | T | C | 6:g.56425093T>C | - | | | NM_001374736.1(DST):c.14434G>C (p.Glu4812Gln) | 667 | DST | Uncertain significance | rs779944990 | RCV001346120; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425098 | 56425098 | C | G | 56425098 | - | | | NM_001374736.1(DST):c.14424G>T (p.Gln4808His) | 667 | DST | Uncertain significance | -1 | RCV001365668; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425108 | 56425108 | C | A | 56425108 | - | | | NM_001374736.1(DST):c.14418G>C (p.Trp4806Cys) | 667 | DST | Uncertain significance | rs2097517609 | RCV001296252; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425114 | 56425114 | C | G | 56425114 | - | | | NM_001374736.1(DST):c.14415A>T (p.Arg4805Ser) | 667 | DST | Uncertain significance | -1 | RCV001991441; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425117 | 56425117 | T | A | 56425117 | - | | | NM_001374736.1(DST):c.14412C>T (p.Pro4804=) | 667 | DST | Likely benign | -1 | RCV001393430; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425120 | 56425120 | G | A | 56425120 | - | | | NM_001374736.1(DST):c.14410C>T (p.Pro4804Ser) | 667 | DST | Uncertain significance | rs368820405 | RCV000823210; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425122 | 56425122 | G | A | 6:g.56425122G>A | - | | | NM_001374736.1(DST):c.14407G>A (p.Ala4803Thr) | 667 | DST | Uncertain significance | rs773639256 | RCV001246127; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425125 | 56425125 | C | T | 6:g.56425125C>T | - | | | NM_001374736.1(DST):c.14399C>A (p.Thr4800Asn) | 667 | DST | Uncertain significance | -1 | RCV001899169; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425133 | 56425133 | G | T | 56425133 | - | | | NM_001374736.1(DST):c.14392C>T (p.Pro4798Ser) | 667 | DST | Uncertain significance | rs372505269 | RCV001243295; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425140 | 56425140 | G | A | 6:g.56425140G>A | - | | | NM_001374736.1(DST):c.14381T>C (p.Leu4794Ser) | 667 | DST | Uncertain significance | rs2097518193 | RCV001246198; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425151 | 56425151 | A | G | 6:g.56425151A>G | - | | | NM_001374736.1(DST):c.14375A>C (p.Glu4792Ala) | 667 | DST | Uncertain significance | -1 | RCV001989201; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425157 | 56425157 | T | G | 56425157 | - | | | NM_001374736.1(DST):c.14367A>G (p.Lys4789=) | 667 | DST | Likely benign | -1 | RCV002130531; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425165 | 56425165 | T | C | 56425165 | - | | | NM_001374736.1(DST):c.14360A>C (p.Lys4787Thr) | 667 | DST | Uncertain significance | -1 | RCV001907388; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425172 | 56425172 | T | G | 56425172 | - | | | NM_001374736.1(DST):c.14346A>C (p.Lys4782Asn) | 667 | DST | Uncertain significance | -1 | RCV001997520; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425186 | 56425186 | T | G | 56425186 | - | | | NM_001374736.1(DST):c.14328G>A (p.Leu4776=) | 667 | DST | Likely benign | -1 | RCV001405654; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425204 | 56425204 | C | T | 56425204 | - | | | NM_001374736.1(DST):c.14313G>A (p.Ser4771=) | 667 | DST | Benign | rs113998459 | RCV000981882; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425219 | 56425219 | C | T | 6:g.56425219C>T | - | | | NM_001374736.1(DST):c.14312C>T (p.Ser4771Leu) | 667 | DST | Benign | rs62619760 | RCV000979029; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56425220 | 56425220 | G | A | 6:g.56425220G>A | - | | | NM_001374736.1(DST):c.14311-19A>G | 667 | DST | Benign | -1 | RCV002106632; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425240 | 56425240 | T | C | 56425240 | - | | | NM_001374736.1(DST):c.14311-20T>G | 667 | DST | Likely benign | -1 | RCV002096594; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56425241 | 56425241 | A | C | 56425241 | - | | | NM_001374736.1(DST):c.14310+19C>T | 667 | DST | Likely benign | -1 | RCV002109156; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426087 | 56426087 | G | A | 56426087 | - | | | NM_001374736.1(DST):c.14297T>C (p.Val4766Ala) | 667 | DST | Uncertain significance | rs368555516 | RCV001299272; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426119 | 56426119 | A | G | 56426119 | - | | | NM_001374736.1(DST):c.14291C>T (p.Thr4764Ile) | 667 | DST | Uncertain significance | rs1664409134 | RCV001239590; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426125 | 56426125 | G | A | 6:g.56426125G>A | - | | | NM_001374736.1(DST):c.14274T>C (p.Asp4758=) | 667 | DST | Likely benign | -1 | RCV001505472; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426142 | 56426142 | A | G | 56426142 | - | | | NM_001374736.1(DST):c.14264C>G (p.Ala4755Gly) | 667 | DST | Uncertain significance | -1 | RCV001891626; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426152 | 56426152 | G | C | 56426152 | - | | | NM_001374736.1(DST):c.14260C>G (p.Pro4754Ala) | 667 | DST | Uncertain significance | rs188631490 | RCV001246064|RCV001508548; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56426156 | 56426156 | G | C | 6:g.56426156G>C | - | | | NM_001374736.1(DST):c.14252A>G (p.Gln4751Arg) | 667 | DST | Uncertain significance | -1 | RCV001970280; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426164 | 56426164 | T | C | 56426164 | - | | | NM_001374736.1(DST):c.14234A>G (p.Lys4745Arg) | 667 | DST | Uncertain significance | -1 | RCV001365516; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426182 | 56426182 | T | C | 56426182 | - | | | NM_001374736.1(DST):c.14224A>G (p.Lys4742Glu) | 667 | DST | Uncertain significance | -1 | RCV001954872; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426192 | 56426192 | T | C | 56426192 | - | | | NM_001374736.1(DST):c.14217G>A (p.Trp4739Ter) | 667 | DST | Pathogenic | rs2097534211 | RCV001248338; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426199 | 56426199 | C | T | 6:g.56426199C>T | - | | | NM_001374736.1(DST):c.14207T>C (p.Met4736Thr) | 667 | DST | Uncertain significance | -1 | RCV001364781; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426209 | 56426209 | A | G | 56426209 | - | | | NM_001374736.1(DST):c.14193A>G (p.Glu4731=) | 667 | DST | Likely benign | -1 | RCV002097800; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426223 | 56426223 | T | C | 56426223 | - | | | NM_001374736.1(DST):c.14181A>G (p.Gln4727=) | 667 | DST | Uncertain significance | rs2097534567 | RCV001246272; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426235 | 56426235 | T | C | 6:g.56426235T>C | - | | | NM_001374736.1(DST):c.14180A>G (p.Gln4727Arg) | 667 | DST | Uncertain significance | rs1235195966 | RCV001248530; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426236 | 56426236 | T | C | 6:g.56426236T>C | - | | | NM_001374736.1(DST):c.14174A>G (p.Lys4725Arg) | 667 | DST | Benign | rs78484087 | RCV000979005|RCV001615088; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56426242 | 56426242 | T | C | 6:g.56426242T>C | - | | | NM_001374736.1(DST):c.14170T>C (p.Ser4724Pro) | 667 | DST | Benign | rs148547958 | RCV000979587; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426246 | 56426246 | A | G | 6:g.56426246A>G | - | | | NM_001374736.1(DST):c.14162C>T (p.Thr4721Ile) | 667 | DST | Uncertain significance | rs1562806934 | RCV001349667; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426254 | 56426254 | G | A | 56426254 | - | | | NM_001374736.1(DST):c.14151G>A (p.Ala4717=) | 667 | DST | Benign | rs78882406 | RCV000979038; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426265 | 56426265 | C | T | 6:g.56426265C>T | - | | | NM_001374736.1(DST):c.14150C>T (p.Ala4717Val) | 667 | DST | Uncertain significance | rs181741923 | RCV001242695|RCV001508549; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56426266 | 56426266 | G | A | 6:g.56426266G>A | - | | | NM_001374736.1(DST):c.14144A>G (p.Lys4715Arg) | 667 | DST | Uncertain significance | rs199706428 | RCV001245505; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426272 | 56426272 | T | C | 6:g.56426272T>C | - | | | NM_001374736.1(DST):c.14140G>A (p.Asp4714Asn) | 667 | DST | Uncertain significance | rs777868479 | RCV001242624; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426276 | 56426276 | C | T | 6:g.56426276C>T | - | | | NM_001374736.1(DST):c.14134C>T (p.Leu4712Phe) | 667 | DST | Uncertain significance | rs376647921 | RCV001312571; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426282 | 56426282 | G | A | 56426282 | - | | | NM_001374736.1(DST):c.14130C>T (p.Leu4710=) | 667 | DST | Likely benign | -1 | RCV001466847; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426286 | 56426286 | G | A | 56426286 | - | | | NM_001374736.1(DST):c.14108A>G (p.His4703Arg) | 667 | DST | Uncertain significance | rs772369999 | RCV001241197; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426308 | 56426308 | T | C | 6:g.56426308T>C | - | | | NM_001374736.1(DST):c.14094G>T (p.Met4698Ile) | 667 | DST | Likely benign | -1 | RCV001496383; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426322 | 56426322 | C | A | 56426322 | - | | | NM_001374736.1(DST):c.14069-5C>T | 667 | DST | Likely benign | -1 | RCV002175061; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426352 | 56426352 | G | A | 56426352 | - | | | NM_001374736.1(DST):c.14069-12T>C | 667 | DST | Likely benign | -1 | RCV002043288; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426359 | 56426359 | A | G | 56426359 | - | | | NM_001374736.1(DST):c.14069-16T>G | 667 | DST | Benign | -1 | RCV002117973; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426363 | 56426363 | A | C | 56426363 | - | | | NM_001374736.1(DST):c.14068+5G>A | 667 | DST | Benign | rs9367689 | RCV000613030|RCV001613403|RCV001510450|RCV001662664|RCV001700175; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:6154 | 6 | 56426931 | 56426931 | C | T | NC_000006.11:g.56426931C>T | ClinGen:CA3868108 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.14064T>C (p.Asn4688=) | 667 | DST | Uncertain significance | rs1377086977 | RCV000797972; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426940 | 56426940 | A | G | 6:g.56426940A>G | - | | | NM_001374736.1(DST):c.14057G>A (p.Trp4686Ter) | 667 | DST | Pathogenic | rs2097544341 | RCV001248266; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426947 | 56426947 | C | T | 6:g.56426947C>T | - | | | NM_001374736.1(DST):c.14052A>G (p.Glu4684=) | 667 | DST | Likely benign | -1 | RCV001405634; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426952 | 56426952 | T | C | 56426952 | - | | | NM_001374736.1(DST):c.14035G>C (p.Ala4679Pro) | 667 | DST | Uncertain significance | rs775166216 | RCV001246731; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56426969 | 56426969 | C | G | 6:g.56426969C>G | - | | | NM_001374736.1(DST):c.14033C>T (p.Thr4678Ile) | 667 | DST | Uncertain significance | rs1382596937 | RCV001322514; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426971 | 56426971 | G | A | 56426971 | - | | | NM_001374736.1(DST):c.14024G>A (p.Gly4675Asp) | 667 | DST | Uncertain significance | -1 | RCV001365847; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426980 | 56426980 | C | T | 56426980 | - | | | NM_001374736.1(DST):c.14024G>T (p.Gly4675Val) | 667 | DST | Uncertain significance | -1 | RCV001952666; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56426980 | 56426980 | C | A | 56426980 | - | | | NM_001374736.1(DST):c.14006-6T>C | 667 | DST | Benign | -1 | RCV001514390|RCV001709712; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56427004 | 56427004 | A | G | 56427004 | - | | | NM_001374736.1(DST):c.14005+6A>T | 667 | DST | Uncertain significance | rs377182814 | RCV001243167; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56433261 | 56433261 | T | A | 6:g.56433261T>A | - | | | NM_001374736.1(DST):c.13970C>G (p.Thr4657Ser) | 667 | DST | Uncertain significance | rs528578142 | RCV001245918; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56433302 | 56433302 | G | C | 6:g.56433302G>C | - | | | NM_001374736.1(DST):c.13963G>T (p.Ala4655Ser) | 667 | DST | Uncertain significance | rs370851951 | RCV001347125; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56433309 | 56433309 | C | A | 56433309 | - | | | NM_001374736.1(DST):c.13947A>G (p.Leu4649=) | 667 | DST | Likely benign | -1 | RCV002176699; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56433325 | 56433325 | T | C | 56433325 | - | | | NM_001374736.1(DST):c.13934G>A (p.Ser4645Asn) | 667 | DST | Uncertain significance | rs748268169 | RCV001244609; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56433338 | 56433338 | C | T | 6:g.56433338C>T | - | | | NM_001374736.1(DST):c.13929C>T (p.Asn4643=) | 667 | DST | Likely benign | -1 | RCV002178579; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56433343 | 56433343 | G | A | 56433343 | - | | | NM_001374736.1(DST):c.13928A>T (p.Asn4643Ile) | 667 | DST | Uncertain significance | rs147895709 | RCV001319626; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56433344 | 56433344 | T | A | 56433344 | - | | | NM_001374736.1(DST):c.13912G>C (p.Glu4638Gln) | 667 | DST | Uncertain significance | rs377669664 | RCV001241869; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56433360 | 56433360 | C | G | 6:g.56433360C>G | - | | | NM_001374736.1(DST):c.13905A>C (p.Lys4635Asn) | 667 | DST | Uncertain significance | -1 | RCV001913265; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56433367 | 56433367 | T | G | 56433367 | - | | | NM_001374736.1(DST):c.13902A>T (p.Leu4634Phe) | 667 | DST | Uncertain significance | -1 | RCV001367027; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56433370 | 56433370 | T | A | 56433370 | - | | | NM_001374736.1(DST):c.13885C>A (p.Gln4629Lys) | 667 | DST | Uncertain significance | rs1207366191 | RCV001246270; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56433387 | 56433387 | G | T | 6:g.56433387G>T | - | | | NM_001374736.1(DST):c.13878+8A>G | 667 | DST | Likely benign | -1 | RCV001413217; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56434646 | 56434646 | T | C | 56434646 | - | | | NM_001374736.1(DST):c.13825G>A (p.Val4609Ile) | 667 | DST | Uncertain significance | -1 | RCV001954757; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56434707 | 56434707 | C | T | 56434707 | - | | | NM_001374736.1(DST):c.13820C>A (p.Pro4607His) | 667 | DST | Benign/Likely benign | rs138967674 | RCV000979003|RCV001732002; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56434712 | 56434712 | G | T | 6:g.56434712G>T | - | | | NM_001374736.1(DST):c.13813A>G (p.Lys4605Glu) | 667 | DST | Uncertain significance | rs113849115 | RCV001241062; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56434719 | 56434719 | T | C | 6:g.56434719T>C | - | | | NM_001374736.1(DST):c.13807A>G (p.Thr4603Ala) | 667 | DST | Uncertain significance | rs2097755652 | RCV001247573; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56434725 | 56434725 | T | C | 6:g.56434725T>C | - | | | NM_001374736.1(DST):c.13801G>A (p.Glu4601Lys) | 667 | DST | Uncertain significance | -1 | RCV001913040; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56434731 | 56434731 | C | T | 56434731 | - | | | NM_001374736.1(DST):c.13757A>C (p.Asp4586Ala) | 667 | DST | Uncertain significance | -1 | RCV001988133; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56434775 | 56434775 | T | G | 56434775 | - | | | NM_001374736.1(DST):c.13736C>T (p.Thr4579Ile) | 667 | DST | Uncertain significance | rs2097756144 | RCV001241810; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56434796 | 56434796 | G | A | 6:g.56434796G>A | - | | | NM_001374736.1(DST):c.13724AAG[1] (p.Glu4576del) | 667 | DST | Uncertain significance | rs2097756169 | RCV001352131; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56434803 | 56434805 | GCTT | G | 56434802 | - | | | NM_001374736.1(DST):c.13722-4G>A | 667 | DST | Benign | -1 | RCV001510526; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56434814 | 56434814 | C | T | 56434814 | - | | | NM_001374736.1(DST):c.13722-5T>C | 667 | DST | Likely benign | -1 | RCV001483482; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56434815 | 56434815 | A | G | 56434815 | - | | | NM_001374736.1(DST):c.13721+13T>G | 667 | DST | Likely benign | -1 | RCV002088557; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56436885 | 56436885 | A | C | 56436885 | - | | | NM_001374736.1(DST):c.13721+2dup | 667 | DST | Uncertain significance | -1 | RCV001933258; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56436895 | 56436896 | T | TA | 56436895 | - | | | NM_001374736.1(DST):c.13711A>G (p.Ile4571Val) | 667 | DST | Uncertain significance | -1 | RCV001926908; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56436908 | 56436908 | T | C | 56436908 | - | | | NM_001374736.1(DST):c.13710C>A (p.Thr4570=) | 667 | DST | Likely benign | -1 | RCV002110255; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56436909 | 56436909 | G | T | 56436909 | - | | | NM_001374736.1(DST):c.13709C>A (p.Thr4570Asn) | 667 | DST | Uncertain significance | rs1448444120 | RCV001245790; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56436910 | 56436910 | G | T | 6:g.56436910G>T | - | | | NM_001374736.1(DST):c.13707_13708insTAATATAAATAGAATAAAATAT (p.Thr4570Ter) | 667 | DST | Pathogenic | -1 | RCV001994464; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56436911 | 56436912 | T | TATATTTTATTCTATTTATATTA | 56436911 | - | | | NM_001374736.1(DST):c.13705G>A (p.Asp4569Asn) | 667 | DST | Uncertain significance | rs759202844 | RCV001242443; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56436914 | 56436914 | C | T | 6:g.56436914C>T | - | | | NM_001374736.1(DST):c.13701G>A (p.Met4567Ile) | 667 | DST | Uncertain significance | rs1445711960 | RCV000998634|RCV001239864; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56436918 | 56436918 | C | T | 6:g.56436918C>T | - | | | NM_001374736.1(DST):c.13676A>G (p.Asn4559Ser) | 667 | DST | Uncertain significance | -1 | RCV001940639; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56436943 | 56436943 | T | C | 56436943 | - | | | NM_001374736.1(DST):c.13652C>T (p.Ala4551Val) | 667 | DST | Uncertain significance | -1 | RCV001946332; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56436967 | 56436967 | G | A | 56436967 | - | | | NM_001374736.1(DST):c.13631A>G (p.His4544Arg) | 667 | DST | Uncertain significance | rs748806288 | RCV001343786; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56436988 | 56436988 | T | C | 56436988 | - | | | NM_001374736.1(DST):c.13630C>T (p.His4544Tyr) | 667 | DST | Uncertain significance | rs1397028886 | RCV001317743; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56436989 | 56436989 | G | A | 56436989 | - | | | NM_001374736.1(DST):c.13609C>T (p.Leu4537Phe) | 667 | DST | Uncertain significance | -1 | RCV001909963; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437010 | 56437010 | G | A | 56437010 | - | | | NM_001374736.1(DST):c.13606A>G (p.Ser4536Gly) | 667 | DST | Uncertain significance | -1 | RCV001985452; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437013 | 56437013 | T | C | 56437013 | - | | | NM_001374736.1(DST):c.13598T>C (p.Val4533Ala) | 667 | DST | Benign/Likely benign | -1 | RCV001514396|RCV001776241; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56437021 | 56437021 | A | G | 56437021 | - | | | NM_001374736.1(DST):c.13592T>C (p.Leu4531Pro) | 667 | DST | Uncertain significance | rs760912540 | RCV000794796; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437027 | 56437027 | A | G | 6:g.56437027A>G | - | | | NM_001374736.1(DST):c.13591C>G (p.Leu4531Val) | 667 | DST | Uncertain significance | rs996209535 | RCV001305536; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437028 | 56437028 | G | C | 56437028 | - | | | NM_001374736.1(DST):c.13581C>T (p.His4527=) | 667 | DST | Likely benign | -1 | RCV001487875; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437038 | 56437038 | G | A | 56437038 | - | | | NM_001374736.1(DST):c.13568A>G (p.Glu4523Gly) | 667 | DST | Uncertain significance | -1 | RCV002031449; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437051 | 56437051 | T | C | 56437051 | - | | | NM_001374736.1(DST):c.13565C>A (p.Ser4522Tyr) | 667 | DST | Uncertain significance | rs751015571 | RCV001241740; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437054 | 56437054 | G | T | 6:g.56437054G>T | - | | | NM_001374736.1(DST):c.13561A>G (p.Thr4521Ala) | 667 | DST | Uncertain significance | -1 | RCV001362340; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437058 | 56437058 | T | C | 56437058 | - | | | NM_001374736.1(DST):c.13555-13T>C | 667 | DST | Likely benign | -1 | RCV002197884; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437077 | 56437077 | A | G | 56437077 | - | | | NM_001374736.1(DST):c.13555-17A>G | 667 | DST | Benign/Likely benign | -1 | RCV001733232|RCV002073977; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437081 | 56437081 | T | C | 56437081 | - | | | NM_001374736.1(DST):c.13555-20A>T | 667 | DST | Likely benign | -1 | RCV002140729; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437084 | 56437084 | T | A | 56437084 | - | | | NM_001374736.1(DST):c.13554+18C>T | 667 | DST | Likely benign | -1 | RCV002178378; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437527 | 56437527 | G | A | 56437527 | - | | | NM_001374736.1(DST):c.13532C>T (p.Thr4511Ile) | 667 | DST | Uncertain significance | rs200621004 | RCV001243844; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437567 | 56437567 | G | A | 6:g.56437567G>A | - | | | NM_001374736.1(DST):c.13528G>C (p.Val4510Leu) | 667 | DST | Uncertain significance | -1 | RCV001914079; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437571 | 56437571 | C | G | 56437571 | - | | | NM_001374736.1(DST):c.13527T>C (p.Asp4509=) | 667 | DST | Likely benign | -1 | RCV001472054; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437572 | 56437572 | A | G | 56437572 | - | | | NM_001374736.1(DST):c.13523A>C (p.Lys4508Thr) | 667 | DST | Uncertain significance | rs2097796893 | RCV001248120; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437576 | 56437576 | T | G | 6:g.56437576T>G | - | | | NM_001374736.1(DST):c.13507G>A (p.Val4503Ile) | 667 | DST | Uncertain significance | rs1241112751 | RCV001239371; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437592 | 56437592 | C | T | 6:g.56437592C>T | - | | | NM_001374736.1(DST):c.13506A>G (p.Glu4502=) | 667 | DST | Uncertain significance | -1 | RCV002027244; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437593 | 56437593 | T | C | 56437593 | - | | | NM_001374736.1(DST):c.13499T>C (p.Leu4500Pro) | 667 | DST | Uncertain significance | rs758532940 | RCV000998635|RCV001245434; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437600 | 56437600 | A | G | 6:g.56437600A>G | - | | | NM_001374736.1(DST):c.13494G>T (p.Gln4498His) | 667 | DST | Uncertain significance | rs565276328 | RCV001245571; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437605 | 56437605 | C | A | 6:g.56437605C>A | - | | | NM_001374736.1(DST):c.13482A>G (p.Glu4494=) | 667 | DST | Likely benign | -1 | RCV002194402; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437617 | 56437617 | T | C | 56437617 | - | | | NM_001374736.1(DST):c.13448A>C (p.Glu4483Ala) | 667 | DST | Uncertain significance | rs1371418837 | RCV001245854; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437651 | 56437651 | T | G | 6:g.56437651T>G | - | | | NM_001374736.1(DST):c.13438G>A (p.Glu4480Lys) | 667 | DST | Uncertain significance | rs1291767235 | RCV001324124; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437661 | 56437661 | C | T | 56437661 | - | | | NM_001374736.1(DST):c.13432A>G (p.Lys4478Glu) | 667 | DST | Uncertain significance | rs577213409 | RCV001340877; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437667 | 56437667 | T | C | 56437667 | - | | | NM_001374736.1(DST):c.13430C>A (p.Thr4477Asn) | 667 | DST | Uncertain significance | rs2097797774 | RCV001240000; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437669 | 56437669 | G | T | 6:g.56437669G>T | - | | | NM_001374736.1(DST):c.13399G>C (p.Glu4467Gln) | 667 | DST | Uncertain significance | rs758298929 | RCV001246725; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437700 | 56437700 | C | G | 6:g.56437700C>G | - | | | NM_001374736.1(DST):c.13388A>G (p.His4463Arg) | 667 | DST | Uncertain significance | rs1585223385 | RCV000817213; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437711 | 56437711 | T | C | 6:g.56437711T>C | - | | | NM_001374736.1(DST):c.13371G>T (p.Arg4457=) | 667 | DST | Likely benign | -1 | RCV002156005; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437728 | 56437728 | C | A | 56437728 | - | | | NM_001374736.1(DST):c.13369C>T (p.Arg4457Trp) | 667 | DST | Uncertain significance | -1 | RCV001946335; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437730 | 56437730 | G | A | 56437730 | - | | | NM_001374736.1(DST):c.13364C>G (p.Ser4455Cys) | 667 | DST | Uncertain significance | -1 | RCV001361115; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437735 | 56437735 | G | C | 56437735 | - | | | NM_001374736.1(DST):c.13361T>C (p.Leu4454Ser) | 667 | DST | Conflicting interpretations of pathogenicity | rs201758531 | RCV000578628|RCV000979439; | N | MedGen:CN169374|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437738 | 56437738 | A | G | 6:g.56437738A>G | ClinGen:CA3868229 | CN169374 not specified; | | NM_001374736.1(DST):c.13306A>G (p.Met4436Val) | 667 | DST | Uncertain significance | -1 | RCV001977801; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437793 | 56437793 | T | C | 56437793 | - | | | NM_001374736.1(DST):c.13284G>T (p.Met4428Ile) | 667 | DST | Uncertain significance | rs749936213 | RCV000818437; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437815 | 56437815 | C | A | 6:g.56437815C>A | - | | | NM_001374736.1(DST):c.13283T>C (p.Met4428Thr) | 667 | DST | Uncertain significance | rs757885682 | RCV001323599; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437816 | 56437816 | A | G | 56437816 | - | | | NM_001374736.1(DST):c.13273A>G (p.Ile4425Val) | 667 | DST | Uncertain significance | rs182262649 | RCV000821141|RCV001766738; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56437826 | 56437826 | T | C | 6:g.56437826T>C | - | | | NM_001374736.1(DST):c.13268G>A (p.Ser4423Asn) | 667 | DST | Uncertain significance | -1 | RCV001948078; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437831 | 56437831 | C | T | 56437831 | - | | | NM_001374736.1(DST):c.13262G>A (p.Arg4421His) | 667 | DST | Uncertain significance | rs373925692 | RCV000808933; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437837 | 56437837 | C | T | 6:g.56437837C>T | - | | | NM_001374736.1(DST):c.13262G>C (p.Arg4421Pro) | 667 | DST | Uncertain significance | -1 | RCV001363965; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437837 | 56437837 | C | G | 56437837 | - | | | NM_001374736.1(DST):c.13255_13256delinsTT (p.Ala4419Leu) | 667 | DST | Uncertain significance | -1 | RCV001901848; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437843 | 56437844 | GC | AA | 56437843 | - | | | NM_001374736.1(DST):c.13243G>A (p.Glu4415Lys) | 667 | DST | Uncertain significance | rs976294831 | RCV000800693; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437856 | 56437856 | C | T | 6:g.56437856C>T | - | | | NM_001374736.1(DST):c.13239G>T (p.Met4413Ile) | 667 | DST | Uncertain significance | rs770123943 | RCV001241812; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56437860 | 56437860 | C | A | 6:g.56437860C>A | - | | | NM_001374736.1(DST):c.13237-14T>C | 667 | DST | Likely benign | -1 | RCV002215406; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437876 | 56437876 | A | G | 56437876 | - | | | NM_001374736.1(DST):c.13237-17T>G | 667 | DST | Likely benign | -1 | RCV002125688; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56437879 | 56437879 | A | C | 56437879 | - | | | NM_001374736.1(DST):c.13236+20del | 667 | DST | Benign | -1 | RCV002125085; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438457 | 56438457 | CT | C | 56438456 | - | | | NM_001374736.1(DST):c.13236T>A (p.Ile4412=) | 667 | DST | Uncertain significance | rs773931543 | RCV001313232; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438477 | 56438477 | A | T | 56438477 | - | | | NM_001374736.1(DST):c.13197A>G (p.Leu4399=) | 667 | DST | Likely benign | -1 | RCV002114354; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56438516 | 56438516 | T | C | 56438516 | - | | | NM_001374736.1(DST):c.13191G>C (p.Val4397=) | 667 | DST | Likely benign | -1 | RCV001421242; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438522 | 56438522 | C | G | 56438522 | - | | | NM_001374736.1(DST):c.13187A>C (p.Gln4396Pro) | 667 | DST | Uncertain significance | rs192539811 | RCV001248594; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56438526 | 56438526 | T | G | 6:g.56438526T>G | - | | | NM_001374736.1(DST):c.13184G>C (p.Gly4395Ala) | 667 | DST | Uncertain significance | rs778792290 | RCV001247058; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438529 | 56438529 | C | G | 6:g.56438529C>G | - | | | NM_001374736.1(DST):c.13177G>C (p.Glu4393Gln) | 667 | DST | Uncertain significance | -1 | RCV001933408; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438536 | 56438536 | C | G | 56438536 | - | | | NM_001374736.1(DST):c.13158T>A (p.Asn4386Lys) | 667 | DST | Uncertain significance | rs745960567 | RCV001246804; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438555 | 56438555 | A | T | 6:g.56438555A>T | - | | | NM_001374736.1(DST):c.13127G>A (p.Gly4376Asp) | 667 | DST | Uncertain significance | rs2097817551 | RCV001246190; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438586 | 56438586 | C | T | 6:g.56438586C>T | - | | | NM_001374736.1(DST):c.13116T>C (p.Ser4372=) | 667 | DST | Likely benign | -1 | RCV002123987; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56438597 | 56438597 | A | G | 56438597 | - | | | NM_001374736.1(DST):c.13114A>C (p.Ser4372Arg) | 667 | DST | Uncertain significance | rs759292785 | RCV001246392; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438599 | 56438599 | T | G | 6:g.56438599T>G | - | | | NM_001374736.1(DST):c.13110A>C (p.Ser4370=) | 667 | DST | Likely benign | -1 | RCV002110195; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438603 | 56438603 | T | G | 56438603 | - | | | NM_001374736.1(DST):c.13105C>T (p.Arg4369Cys) | 667 | DST | Uncertain significance | -1 | RCV002012019; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56438608 | 56438608 | G | A | 56438608 | - | | | NM_001374736.1(DST):c.13087C>T (p.Leu4363Phe) | 667 | DST | Uncertain significance | -1 | RCV001888171; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438626 | 56438626 | G | A | 56438626 | - | | | NM_001374736.1(DST):c.13076G>A (p.Arg4359Gln) | 667 | DST | Uncertain significance | -1 | RCV001367465; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56438637 | 56438637 | C | T | 56438637 | - | | | NM_001374736.1(DST):c.13070A>G (p.Asn4357Ser) | 667 | DST | Uncertain significance | -1 | RCV001365161; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56438643 | 56438643 | T | C | 56438643 | - | | | NM_001374736.1(DST):c.13065T>C (p.Ser4355=) | 667 | DST | Likely benign | -1 | RCV002218808; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438648 | 56438648 | A | G | 56438648 | - | | | NM_001374736.1(DST):c.13064C>G (p.Ser4355Cys) | 667 | DST | Uncertain significance | rs200280141 | RCV001241389; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438649 | 56438649 | G | C | 6:g.56438649G>C | - | | | NM_001374736.1(DST):c.13062G>C (p.Lys4354Asn) | 667 | DST | Uncertain significance | -1 | RCV001890778; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438651 | 56438651 | C | G | 56438651 | - | | | NM_001374736.1(DST):c.13052A>T (p.Asp4351Val) | 667 | DST | Uncertain significance | rs2097818861 | RCV001244679; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438661 | 56438661 | T | A | 6:g.56438661T>A | - | | | NM_001374736.1(DST):c.13031A>G (p.Asp4344Gly) | 667 | DST | Uncertain significance | rs774089161 | RCV001346879; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56438682 | 56438682 | T | C | 56438682 | - | | | NM_001374736.1(DST):c.13029T>C (p.Asp4343=) | 667 | DST | Uncertain significance | -1 | RCV001971143; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438684 | 56438684 | A | G | 56438684 | - | | | NM_001374736.1(DST):c.13028-16G>A | 667 | DST | Benign/Likely benign | -1 | RCV001787479|RCV002074108; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56438701 | 56438701 | C | T | 56438701 | - | | | NM_001374736.1(DST):c.13028-17T>G | 667 | DST | Likely benign | -1 | RCV002187699; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56438702 | 56438702 | A | C | 56438702 | - | | | NM_001374736.1(DST):c.13027+17C>T | 667 | DST | Likely benign | -1 | RCV002188219; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56443595 | 56443595 | G | A | 56443595 | - | | | NM_001374736.1(DST):c.13027+9T>C | 667 | DST | Likely benign | -1 | RCV002146212; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56443603 | 56443603 | A | G | 56443603 | - | | | NM_001374736.1(DST):c.13024C>T (p.Leu4342Phe) | 667 | DST | Uncertain significance | -1 | RCV001935863; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56443615 | 56443615 | G | A | 56443615 | - | | | NM_001374736.1(DST):c.13022C>T (p.Thr4341Ile) | 667 | DST | Uncertain significance | rs771859474 | RCV001239032; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56443617 | 56443617 | G | A | 6:g.56443617G>A | - | | | NM_001374736.1(DST):c.13006A>G (p.Asn4336Asp) | 667 | DST | Uncertain significance | -1 | RCV002042470; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56443633 | 56443633 | T | C | 56443633 | - | | | NM_001374736.1(DST):c.12987A>T (p.Gly4329=) | 667 | DST | Likely benign | -1 | RCV001416721; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56443652 | 56443652 | T | A | 56443652 | - | | | NM_001374736.1(DST):c.12981C>T (p.Ala4327=) | 667 | DST | Likely benign | -1 | RCV001445948; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56443658 | 56443658 | G | A | 56443658 | - | | | NM_001374736.1(DST):c.12980C>G (p.Ala4327Gly) | 667 | DST | Uncertain significance | rs2097915078 | RCV001338683; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56443659 | 56443659 | G | C | 56443659 | - | | | NM_001374736.1(DST):c.12960G>A (p.Thr4320=) | 667 | DST | Likely benign | -1 | RCV002096833; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56443679 | 56443679 | C | T | 56443679 | - | | | NM_001374736.1(DST):c.12959C>T (p.Thr4320Met) | 667 | DST | Uncertain significance | rs544327450 | RCV001242389|RCV001508550; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56443680 | 56443680 | G | A | 6:g.56443680G>A | - | | | NM_001374736.1(DST):c.12940G>A (p.Val4314Ile) | 667 | DST | Uncertain significance | rs755123053 | RCV001317261; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56443699 | 56443699 | C | T | 56443699 | - | | | NM_001374736.1(DST):c.12934G>A (p.Val4312Ile) | 667 | DST | Uncertain significance | -1 | RCV001991072; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56443705 | 56443705 | C | T | 56443705 | - | | | NM_001374736.1(DST):c.12926G>A (p.Ser4309Asn) | 667 | DST | Uncertain significance | rs996264313 | RCV001239592; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56443713 | 56443713 | C | T | 6:g.56443713C>T | - | | | NM_001374736.1(DST):c.12922T>C (p.Ser4308Pro) | 667 | DST | Uncertain significance | rs778220904 | RCV001248731; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56443717 | 56443717 | A | G | 6:g.56443717A>G | - | | | NM_001374736.1(DST):c.12907T>C (p.Leu4303=) | 667 | DST | Likely benign | -1 | RCV001391888; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56443732 | 56443732 | A | G | 56443732 | - | | | NM_001374736.1(DST):c.12904-3C>T | 667 | DST | Uncertain significance | -1 | RCV001913267; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56443738 | 56443738 | G | A | 56443738 | - | | | NM_001374736.1(DST):c.12904-14G>A | 667 | DST | Likely benign | -1 | RCV001951643; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56443749 | 56443749 | C | T | 56443749 | - | | | NM_001374736.1(DST):c.12903+19A>T | 667 | DST | Likely benign | -1 | RCV002194968; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56456961 | 56456961 | T | A | 56456961 | - | | | NM_001374736.1(DST):c.12903+15A>G | 667 | DST | Likely benign | -1 | RCV002161281; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56456965 | 56456965 | T | C | 56456965 | - | | | NM_001374736.1(DST):c.12903+9_12903+10del | 667 | DST | Likely benign | -1 | RCV001439562; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56456970 | 56456971 | TCG | T | 56456969 | - | | | NM_001374736.1(DST):c.12903+10G>A | 667 | DST | Likely benign | -1 | RCV002141348; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56456970 | 56456970 | C | T | 56456970 | - | | | NM_001374736.1(DST):c.12903+9C>T | 667 | DST | Uncertain significance | rs775106494 | RCV001245722; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56456971 | 56456971 | G | A | 6:g.56456971G>A | - | | | NM_001374736.1(DST):c.12899C>G (p.Thr4300Ser) | 667 | DST | Uncertain significance | -1 | RCV001980628; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56456984 | 56456984 | G | C | 56456984 | - | | | NM_001374736.1(DST):c.12896A>G (p.Glu4299Gly) | 667 | DST | Uncertain significance | -1 | RCV001897818; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56456987 | 56456987 | T | C | 56456987 | - | | | NM_001374736.1(DST):c.12888A>G (p.Gln4296=) | 667 | DST | Likely benign | rs201201114 | RCV000979590; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56456995 | 56456995 | T | C | 6:g.56456995T>C | - | | | NM_001374736.1(DST):c.12888A>T (p.Gln4296His) | 667 | DST | Uncertain significance | rs201201114 | RCV001245914|RCV001508551; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56456995 | 56456995 | T | A | 6:g.56456995T>A | - | | | NM_001374736.1(DST):c.12885G>C (p.Arg4295Ser) | 667 | DST | Uncertain significance | rs2098289303 | RCV001303230; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56456998 | 56456998 | C | G | 56456998 | - | | | NM_001374736.1(DST):c.12871A>C (p.Lys4291Gln) | 667 | DST | Uncertain significance | rs754447113 | RCV001241931; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56457012 | 56457012 | T | G | 6:g.56457012T>G | - | | | NM_001374736.1(DST):c.12869C>T (p.Pro4290Leu) | 667 | DST | Uncertain significance | rs757864438 | RCV001240216; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56457014 | 56457014 | G | A | 6:g.56457014G>A | - | | | NM_001374736.1(DST):c.12867C>T (p.Asp4289=) | 667 | DST | Likely benign | -1 | RCV001412320; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56457016 | 56457016 | G | A | 56457016 | - | | | NM_001374736.1(DST):c.12866A>G (p.Asp4289Gly) | 667 | DST | Uncertain significance | -1 | RCV001975945; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56457017 | 56457017 | T | C | 56457017 | - | | | NM_001374736.1(DST):c.12863T>C (p.Val4288Ala) | 667 | DST | Uncertain significance | rs2098289659 | RCV001239168; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56457020 | 56457020 | A | G | 6:g.56457020A>G | - | | | NM_001374736.1(DST):c.12861G>A (p.Ala4287=) | 667 | DST | Likely benign | -1 | RCV001402993; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56457022 | 56457022 | C | T | 56457022 | - | | | NM_001374736.1(DST):c.12860C>T (p.Ala4287Val) | 667 | DST | Uncertain significance | rs760441270 | RCV001243435; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56457023 | 56457023 | G | A | 6:g.56457023G>A | - | | | NM_001374736.1(DST):c.12847T>C (p.Ser4283Pro) | 667 | DST | Uncertain significance | -1 | RCV001951850; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56457036 | 56457036 | A | G | 56457036 | - | | | NM_001374736.1(DST):c.12843C>T (p.His4281=) | 667 | DST | Likely benign | -1 | RCV002118882; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56457040 | 56457040 | G | A | 56457040 | - | | | NM_001374736.1(DST):c.12839A>G (p.Lys4280Arg) | 667 | DST | Conflicting interpretations of pathogenicity | rs186813964 | RCV000979045|RCV001086016; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56457044 | 56457044 | T | C | 6:g.56457044T>C | - | | | NM_001374736.1(DST):c.12834G>A (p.Ala4278=) | 667 | DST | Likely benign | -1 | RCV001408347; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56457049 | 56457049 | C | T | 56457049 | - | | | NM_001374736.1(DST):c.12833C>T (p.Ala4278Val) | 667 | DST | Uncertain significance | rs772339057 | RCV001238974; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56457050 | 56457050 | G | A | 6:g.56457050G>A | - | | | NM_001374736.1(DST):c.12826G>A (p.Ala4276Thr) | 667 | DST | Uncertain significance | -1 | RCV001968192; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56457057 | 56457057 | C | T | 56457057 | - | | | NM_001374736.1(DST):c.12821G>T (p.Cys4274Phe) | 667 | DST | Uncertain significance | -1 | RCV001926260; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56457062 | 56457062 | C | A | 56457062 | - | | | NM_001374736.1(DST):c.12810A>G (p.Gly4270=) | 667 | DST | Likely benign | -1 | RCV002174275; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56457073 | 56457073 | T | C | 56457073 | - | | | NM_001374736.1(DST):c.12785A>T (p.Asp4262Val) | 667 | DST | Uncertain significance | -1 | RCV001937621; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56457098 | 56457098 | T | A | 56457098 | - | | | NM_001374736.1(DST):c.12754G>T (p.Asp4252Tyr) | 667 | DST | Uncertain significance | rs757177251 | RCV001247707; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56457129 | 56457129 | C | A | 6:g.56457129C>A | - | | | NM_001374736.1(DST):c.12731A>G (p.Asn4244Ser) | 667 | DST | Uncertain significance | rs200672626 | RCV001239232; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56457152 | 56457152 | T | C | 6:g.56457152T>C | - | | | NM_001374736.1(DST):c.12727-14C>T | 667 | DST | Likely benign | -1 | RCV002099824; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56457170 | 56457170 | G | A | 56457170 | - | | | NM_001374736.1(DST):c.12726G>A (p.Lys4242=) | 667 | DST | Uncertain significance | rs2098327053 | RCV001248737; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458461 | 56458461 | C | T | 6:g.56458461C>T | - | | | NM_001374736.1(DST):c.12723T>G (p.Ser4241=) | 667 | DST | Likely benign | -1 | RCV001491656; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458464 | 56458464 | A | C | 56458464 | - | | | NM_001374736.1(DST):c.12719A>G (p.Tyr4240Cys) | 667 | DST | Uncertain significance | -1 | RCV001956823; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458468 | 56458468 | T | C | 56458468 | - | | | NM_001374736.1(DST):c.12704G>A (p.Arg4235Gln) | 667 | DST | Uncertain significance | -1 | RCV002019397; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458483 | 56458483 | C | T | 56458483 | - | | | NM_001374736.1(DST):c.12703C>T (p.Arg4235Trp) | 667 | DST | Uncertain significance | rs778888568 | RCV001246061; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458484 | 56458484 | G | A | 6:g.56458484G>A | - | | | NM_001374736.1(DST):c.12703C>G (p.Arg4235Gly) | 667 | DST | Uncertain significance | -1 | RCV001367405; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458484 | 56458484 | G | C | 56458484 | - | | | NM_001374736.1(DST):c.12701A>G (p.Asp4234Gly) | 667 | DST | Uncertain significance | -1 | RCV001922338; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458486 | 56458486 | T | C | 56458486 | - | | | NM_001374736.1(DST):c.12690T>G (p.Asp4230Glu) | 667 | DST | Uncertain significance | rs914995831 | RCV001335762; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458497 | 56458497 | A | C | 56458497 | - | | | NM_001374736.1(DST):c.12681C>T (p.Arg4227=) | 667 | DST | Uncertain significance | rs2098327553 | RCV001243632; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458506 | 56458506 | G | A | 6:g.56458506G>A | - | | | NM_001374736.1(DST):c.12680G>A (p.Arg4227His) | 667 | DST | Uncertain significance | rs201346012 | RCV000810922|RCV001335761|RCV001700462; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56458507 | 56458507 | C | T | 6:g.56458507C>T | - | | | NM_001374736.1(DST):c.12631_12645del (p.Arg4211_Lys4215del) | 667 | DST | Uncertain significance | rs763288106 | RCV001240787; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458542 | 56458556 | CCTTGCCACCGTCTCT | C | 6:g.56458542_56458556del | - | | | NM_001374736.1(DST):c.12637G>A (p.Gly4213Ser) | 667 | DST | Uncertain significance | -1 | RCV001926807; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458550 | 56458550 | C | T | 56458550 | - | | | NM_001374736.1(DST):c.12636C>T (p.Asp4212=) | 667 | DST | Benign | rs74609186 | RCV000979188; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458551 | 56458551 | G | A | 6:g.56458551G>A | - | | | NM_001374736.1(DST):c.12633A>G (p.Arg4211=) | 667 | DST | Likely benign | -1 | RCV001419516; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458554 | 56458554 | T | C | 56458554 | - | | | NM_001374736.1(DST):c.12627C>G (p.Ser4209Arg) | 667 | DST | Uncertain significance | rs1259234822 | RCV001245302; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458560 | 56458560 | G | C | 6:g.56458560G>C | - | | | NM_001374736.1(DST):c.12618A>G (p.Lys4206=) | 667 | DST | Benign | rs376162444 | RCV000979582; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458569 | 56458569 | T | C | 6:g.56458569T>C | - | | | NM_001374736.1(DST):c.12593G>T (p.Gly4198Val) | 667 | DST | Uncertain significance | -1 | RCV001920929; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458594 | 56458594 | C | A | 56458594 | - | | | NM_001374736.1(DST):c.12562A>G (p.Lys4188Glu) | 667 | DST | Uncertain significance | -1 | RCV001989407; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458625 | 56458625 | T | C | 56458625 | - | | | NM_001374736.1(DST):c.12549C>T (p.Asp4183=) | 667 | DST | Likely benign | -1 | RCV001485776; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458638 | 56458638 | G | A | 56458638 | - | | | NM_001374736.1(DST):c.12548A>G (p.Asp4183Gly) | 667 | DST | Uncertain significance | rs1462100722 | RCV000797036; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458639 | 56458639 | T | C | 6:g.56458639T>C | - | | | NM_001374736.1(DST):c.12546A>G (p.Glu4182=) | 667 | DST | Likely benign | -1 | RCV001482977; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458641 | 56458641 | T | C | 56458641 | - | | | NM_001374736.1(DST):c.12536G>C (p.Ser4179Thr) | 667 | DST | Uncertain significance | rs2098329229 | RCV001242890; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458651 | 56458651 | C | G | 6:g.56458651C>G | - | | | NM_001374736.1(DST):c.12514A>G (p.Thr4172Ala) | 667 | DST | Uncertain significance | rs1209088760 | RCV001240146; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458673 | 56458673 | T | C | 6:g.56458673T>C | - | | | NM_001374736.1(DST):c.12488G>A (p.Gly4163Asp) | 667 | DST | Uncertain significance | rs781152141 | RCV001508552|RCV001242388; | N | MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458699 | 56458699 | C | T | 6:g.56458699C>T | - | | | NM_001374736.1(DST):c.12487G>A (p.Gly4163Ser) | 667 | DST | Uncertain significance | rs748277363 | RCV001244753; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458700 | 56458700 | C | T | 6:g.56458700C>T | - | | | NM_001374736.1(DST):c.12484G>A (p.Ala4162Thr) | 667 | DST | Uncertain significance | rs141048754 | RCV001346122; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458703 | 56458703 | C | T | 56458703 | - | | | NM_001374736.1(DST):c.12473A>G (p.Glu4158Gly) | 667 | DST | Uncertain significance | rs749444940 | RCV001240067; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458714 | 56458714 | T | C | 6:g.56458714T>C | - | | | NM_001374736.1(DST):c.12471T>G (p.Leu4157=) | 667 | DST | Likely benign | -1 | RCV001440075; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458716 | 56458716 | A | C | 56458716 | - | | | NM_001374736.1(DST):c.12469C>T (p.Leu4157Phe) | 667 | DST | Uncertain significance | rs554822347 | RCV001248733; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458718 | 56458718 | G | A | 6:g.56458718G>A | - | | | NM_001374736.1(DST):c.12433G>A (p.Glu4145Lys) | 667 | DST | Uncertain significance | rs752961020 | RCV001245305; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458754 | 56458754 | C | T | 6:g.56458754C>T | - | | | NM_001374736.1(DST):c.12428A>C (p.Tyr4143Ser) | 667 | DST | Uncertain significance | -1 | RCV002039098; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458759 | 56458759 | T | G | 56458759 | - | | | NM_001374736.1(DST):c.12420T>C (p.Asp4140=) | 667 | DST | Likely benign | -1 | RCV002075373; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458767 | 56458767 | A | G | 56458767 | - | | | NM_001374736.1(DST):c.12400G>A (p.Glu4134Lys) | 667 | DST | Uncertain significance | -1 | RCV001903973; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458787 | 56458787 | C | T | 56458787 | - | | | NM_001374736.1(DST):c.12390C>G (p.His4130Gln) | 667 | DST | Uncertain significance | rs764958407 | RCV001239865; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458797 | 56458797 | G | C | 6:g.56458797G>C | - | | | NM_001374736.1(DST):c.12388C>G (p.His4130Asp) | 667 | DST | Uncertain significance | rs772590922 | RCV001243231; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458799 | 56458799 | G | C | 6:g.56458799G>C | - | | | NM_001374736.1(DST):c.12388C>T (p.His4130Tyr) | 667 | DST | Uncertain significance | rs772590922 | RCV001350145; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458799 | 56458799 | G | A | 56458799 | - | | | NM_001374736.1(DST):c.12363G>A (p.Glu4121=) | 667 | DST | Likely benign | -1 | RCV002204873; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458824 | 56458824 | C | T | 56458824 | - | | | NM_001374736.1(DST):c.12354A>T (p.Ala4118=) | 667 | DST | Likely benign | -1 | RCV001444182; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458833 | 56458833 | T | A | 56458833 | - | | | NM_001374736.1(DST):c.12351T>G (p.Thr4117=) | 667 | DST | Benign/Likely benign | rs16888032 | RCV000979009|RCV001847119; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56458836 | 56458836 | A | C | 6:g.56458836A>C | - | | | NM_001374736.1(DST):c.12333G>A (p.Leu4111=) | 667 | DST | Likely benign | -1 | RCV002156909; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458854 | 56458854 | C | T | 56458854 | - | | | NM_001374736.1(DST):c.12327G>A (p.Lys4109=) | 667 | DST | Likely benign | -1 | RCV002170051; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458860 | 56458860 | C | T | 56458860 | - | | | NM_001374736.1(DST):c.12323T>C (p.Met4108Thr) | 667 | DST | Uncertain significance | -1 | RCV002002088; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458864 | 56458864 | A | G | 56458864 | - | | | NM_001374736.1(DST):c.12322A>G (p.Met4108Val) | 667 | DST | Uncertain significance | rs1272703082 | RCV001326124; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458865 | 56458865 | T | C | 56458865 | - | | | NM_001374736.1(DST):c.12307A>G (p.Lys4103Glu) | 667 | DST | Uncertain significance | rs749297410 | RCV001243301; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458880 | 56458880 | T | C | 6:g.56458880T>C | - | | | NM_001374736.1(DST):c.12292C>G (p.Pro4098Ala) | 667 | DST | Uncertain significance | rs368463876 | RCV001341506; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458895 | 56458895 | G | C | 56458895 | - | | | NM_001374736.1(DST):c.12256C>G (p.Gln4086Glu) | 667 | DST | Uncertain significance | rs1463381470 | RCV001317584; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458931 | 56458931 | G | C | 56458931 | - | | | NM_001374736.1(DST):c.12244A>G (p.Thr4082Ala) | 667 | DST | Uncertain significance | -1 | RCV001943294; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458943 | 56458943 | T | C | 56458943 | - | | | NM_001374736.1(DST):c.12238A>G (p.Ile4080Val) | 667 | DST | Uncertain significance | rs200855949 | RCV001295127|RCV001311723; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56458949 | 56458949 | T | C | 56458949 | - | | | NM_001374736.1(DST):c.12220C>G (p.Gln4074Glu) | 667 | DST | Uncertain significance | rs1400251833 | RCV001243495; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458967 | 56458967 | G | C | 6:g.56458967G>C | - | | | NM_001374736.1(DST):c.12218C>T (p.Ser4073Phe) | 667 | DST | Uncertain significance | rs1277292455 | RCV001239444|RCV001726463; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56458969 | 56458969 | G | A | 6:g.56458969G>A | - | | | NM_001374736.1(DST):c.12214A>T (p.Ile4072Phe) | 667 | DST | Uncertain significance | -1 | RCV002050261; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458973 | 56458973 | T | A | 56458973 | - | | | NM_001374736.1(DST):c.12210G>T (p.Lys4070Asn) | 667 | DST | Uncertain significance | rs778224745 | RCV001240789; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458977 | 56458977 | C | A | 6:g.56458977C>A | - | | | NM_001374736.1(DST):c.12205G>A (p.Glu4069Lys) | 667 | DST | Uncertain significance | rs774002432 | RCV001243230; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56458982 | 56458982 | C | T | 6:g.56458982C>T | - | | | NM_001374736.1(DST):c.12201A>G (p.Gln4067=) | 667 | DST | Likely benign | -1 | RCV002110850; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56458986 | 56458986 | T | C | 56458986 | - | | | NC_000006.11:g.(?_56459785)_(56462879_?)del | 667 | DST | Uncertain significance | -1 | RCV002016889; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56459785 | 56462879 | na | na | -1 | - | | | NM_001374736.1(DST):c.12159T>G (p.Thr4053=) | 667 | DST | Likely benign | rs369432519 | RCV000981953; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56462574 | 56462574 | A | C | 6:g.56462574A>C | - | | | NM_001374736.1(DST):c.12132T>G (p.Thr4044=) | 667 | DST | Likely benign | -1 | RCV001979884; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56462601 | 56462601 | A | C | 56462601 | - | | | NM_001374736.1(DST):c.12113A>G (p.Asn4038Ser) | 667 | DST | Uncertain significance | -1 | RCV001965312; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56462620 | 56462620 | T | C | 56462620 | - | | | NM_001374736.1(DST):c.12109G>A (p.Val4037Ile) | 667 | DST | Uncertain significance | -1 | RCV002038839; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56462624 | 56462624 | C | T | 56462624 | - | | | NM_001374736.1(DST):c.12104A>T (p.Asp4035Val) | 667 | DST | Uncertain significance | rs2098406131 | RCV001248659; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56462629 | 56462629 | T | A | 6:g.56462629T>A | - | | | NM_001374736.1(DST):c.12095G>T (p.Gly4032Val) | 667 | DST | Uncertain significance | -1 | RCV001915711; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56462638 | 56462638 | C | A | 56462638 | - | | | NM_001374736.1(DST):c.12092T>C (p.Ile4031Thr) | 667 | DST | Uncertain significance | -1 | RCV002012172; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56462641 | 56462641 | A | G | 56462641 | - | | | NM_001374736.1(DST):c.12091A>G (p.Ile4031Val) | 667 | DST | Uncertain significance | rs200798191 | RCV000821597; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56462642 | 56462642 | T | C | 6:g.56462642T>C | - | | | NM_001374736.1(DST):c.12089C>T (p.Ala4030Val) | 667 | DST | Uncertain significance | rs768494219 | RCV001337816; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56462644 | 56462644 | G | A | 56462644 | - | | | NM_001374736.1(DST):c.12055G>A (p.Gly4019Arg) | 667 | DST | Uncertain significance | rs540399392 | RCV001245511; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56462678 | 56462678 | C | T | 6:g.56462678C>T | - | | | NM_001374736.1(DST):c.12043A>T (p.Ile4015Phe) | 667 | DST | Uncertain significance | rs201249286 | RCV000820809|RCV000998636; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56462690 | 56462690 | T | A | 6:g.56462690T>A | - | | | NM_001374736.1(DST):c.12043A>G (p.Ile4015Val) | 667 | DST | Uncertain significance | rs201249286 | RCV001241533; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56462690 | 56462690 | T | C | 6:g.56462690T>C | - | | | NM_001374736.1(DST):c.12005A>C (p.Lys4002Thr) | 667 | DST | Uncertain significance | rs747125039 | RCV001239299; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56462728 | 56462728 | T | G | 6:g.56462728T>G | - | | | NM_001374736.1(DST):c.11995A>G (p.Asn3999Asp) | 667 | DST | Uncertain significance | rs763176189 | RCV001241387; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56462738 | 56462738 | T | C | 6:g.56462738T>C | - | | | NM_001374736.1(DST):c.11980T>C (p.Leu3994=) | 667 | DST | Likely benign | -1 | RCV002185383; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56462753 | 56462753 | A | G | 56462753 | - | | | NM_001374736.1(DST):c.11965A>G (p.Lys3989Glu) | 667 | DST | Uncertain significance | rs768047839 | RCV001239099; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56462768 | 56462768 | T | C | 6:g.56462768T>C | - | | | NM_001374736.1(DST):c.11964C>T (p.Thr3988=) | 667 | DST | Likely benign | -1 | RCV001408402; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56462769 | 56462769 | G | A | 56462769 | - | | | NM_001374736.1(DST):c.11950G>A (p.Glu3984Lys) | 667 | DST | Uncertain significance | rs753208447 | RCV001247639; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56462783 | 56462783 | C | T | 6:g.56462783C>T | - | | | NM_001374736.1(DST):c.11949G>A (p.Leu3983=) | 667 | DST | Likely benign | -1 | RCV001431541; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56462784 | 56462784 | C | T | 56462784 | - | | | NM_001374736.1(DST):c.11941A>C (p.Lys3981Gln) | 667 | DST | Uncertain significance | rs149342331 | RCV001245365; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56462792 | 56462792 | T | G | 6:g.56462792T>G | - | | | NM_001374736.1(DST):c.11928+7A>G | 667 | DST | Likely benign | -1 | RCV002174151; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56463267 | 56463267 | T | C | 56463267 | - | | | NM_001374736.1(DST):c.11928+5T>G | 667 | DST | Uncertain significance | rs2098413513 | RCV001300085; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56463269 | 56463269 | A | C | 56463269 | - | | | NM_001374736.1(DST):c.11928+1G>A | 667 | DST | Likely pathogenic | -1 | RCV002042581; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56463273 | 56463273 | C | T | 56463273 | - | | | NM_001374736.1(DST):c.11911A>C (p.Lys3971Gln) | 667 | DST | Uncertain significance | rs939547269 | RCV001313558; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56463291 | 56463291 | T | G | 56463291 | - | | | NM_001374736.1(DST):c.11907A>C (p.Ala3969=) | 667 | DST | Likely benign | -1 | RCV002204883; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56463295 | 56463295 | T | G | 56463295 | - | | | NM_001374736.1(DST):c.11903C>T (p.Thr3968Ile) | 667 | DST | Uncertain significance | rs2098413772 | RCV001312557; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56463299 | 56463299 | G | A | 56463299 | - | | | NM_001374736.1(DST):c.11875A>G (p.Lys3959Glu) | 667 | DST | Uncertain significance | -1 | RCV001909712; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56463327 | 56463327 | T | C | 56463327 | - | | | NM_001374736.1(DST):c.11863G>A (p.Ala3955Thr) | 667 | DST | Uncertain significance | rs751130956 | RCV001242757; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56463339 | 56463339 | C | T | 6:g.56463339C>T | - | | | NM_001374736.1(DST):c.11837T>A (p.Ile3946Lys) | 667 | DST | Uncertain significance | rs1475439102 | RCV001343515; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56463365 | 56463365 | A | T | 56463365 | - | | | NM_001374736.1(DST):c.11836A>G (p.Ile3946Val) | 667 | DST | Uncertain significance | -1 | RCV002036191; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56463366 | 56463366 | T | C | 56463366 | - | | | NM_001374736.1(DST):c.11831C>A (p.Ala3944Asp) | 667 | DST | Uncertain significance | rs181057912 | RCV001324850; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56463371 | 56463371 | G | T | 56463371 | - | | | NM_001374736.1(DST):c.11792A>G (p.Gln3931Arg) | 667 | DST | Benign | rs4712138 | RCV000602729|RCV001510451|RCV001597185|RCV001662665|RCV001700176; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:6154 | 6 | 56463410 | 56463410 | T | C | 6:g.56463410T>C | ClinGen:CA3868574 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.11760CTT[1] (p.Phe3921del) | 667 | DST | Uncertain significance | rs754940406 | RCV001244952; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56463437 | 56463439 | TAAG | T | 6:g.56463437_56463439del | - | | | NM_001374736.1(DST):c.11762T>G (p.Phe3921Cys) | 667 | DST | Uncertain significance | rs1276270340 | RCV001321374; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56463440 | 56463440 | A | C | 56463440 | - | | | NM_001374736.1(DST):c.11745G>A (p.Val3915=) | 667 | DST | Likely benign | -1 | RCV001472126; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56463457 | 56463457 | C | T | 56463457 | - | | | NM_001374736.1(DST):c.11736T>C (p.Ala3912=) | 667 | DST | Likely benign | -1 | RCV002201758; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56463466 | 56463466 | A | G | 56463466 | - | | | NM_001374736.1(DST):c.11719A>G (p.Ser3907Gly) | 667 | DST | Uncertain significance | -1 | RCV002016202; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56463483 | 56463483 | T | C | 56463483 | - | | | NM_001374736.1(DST):c.11704A>G (p.Lys3902Glu) | 667 | DST | Uncertain significance | rs375330871 | RCV001343513; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56463498 | 56463498 | T | C | 56463498 | - | | | NM_001374736.1(DST):c.11700A>G (p.Leu3900=) | 667 | DST | Likely benign | -1 | RCV002142791; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56463502 | 56463502 | T | C | 56463502 | - | | | NM_001374736.1(DST):c.11695-10G>A | 667 | DST | Likely benign | -1 | RCV001407231; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56463517 | 56463517 | C | T | 56463517 | - | | | NM_001374736.1(DST):c.11694+16C>G | 667 | DST | Benign | -1 | RCV002138779; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56464851 | 56464851 | G | C | 56464851 | - | | | NM_001374736.1(DST):c.11694+14T>A | 667 | DST | Likely benign | -1 | RCV002135307; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56464853 | 56464853 | A | T | 56464853 | - | | | NM_001374736.1(DST):c.11694+11G>T | 667 | DST | Benign | -1 | RCV002146050; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56464856 | 56464856 | C | A | 56464856 | - | | | NM_001374736.1(DST):c.11694+1_11694+2dup | 667 | DST | Uncertain significance | rs752591146 | RCV001248400; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56464864 | 56464865 | T | TAC | 6:g.56464864_56464865insAC | - | | | NM_001374736.1(DST):c.11681A>C (p.Gln3894Pro) | 667 | DST | Uncertain significance | rs201696158 | RCV000805934; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56464880 | 56464880 | T | G | 6:g.56464880T>G | - | | | NM_001374736.1(DST):c.11679T>C (p.Tyr3893=) | 667 | DST | Likely benign | -1 | RCV001422569; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56464882 | 56464882 | A | G | 56464882 | - | | | NM_001374736.1(DST):c.11678A>G (p.Tyr3893Cys) | 667 | DST | Uncertain significance | rs1276750380 | RCV001246926; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56464883 | 56464883 | T | C | 6:g.56464883T>C | - | | | NM_001374736.1(DST):c.11658C>A (p.Gly3886=) | 667 | DST | Likely benign | -1 | RCV001483459; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56464903 | 56464903 | G | T | 56464903 | - | | | NM_001374736.1(DST):c.11648T>C (p.Ile3883Thr) | 667 | DST | Uncertain significance | rs536027788 | RCV001243436; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56464913 | 56464913 | A | G | 6:g.56464913A>G | - | | | NM_001374736.1(DST):c.11642T>C (p.Phe3881Ser) | 667 | DST | Uncertain significance | -1 | RCV001959746; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56464919 | 56464919 | A | G | 56464919 | - | | | NM_001374736.1(DST):c.11617C>T (p.Arg3873Cys) | 667 | DST | Uncertain significance | -1 | RCV001912523; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56464944 | 56464944 | G | A | 56464944 | - | | | NM_001374736.1(DST):c.11616C>T (p.Asn3872=) | 667 | DST | Likely benign | -1 | RCV002153245; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56464945 | 56464945 | G | A | 56464945 | - | | | NM_001374736.1(DST):c.11594A>G (p.Asp3865Gly) | 667 | DST | Uncertain significance | -1 | RCV001946334; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56464967 | 56464967 | T | C | 56464967 | - | | | NM_001374736.1(DST):c.11581C>G (p.Gln3861Glu) | 667 | DST | Uncertain significance | -1 | RCV002035780; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56464980 | 56464980 | G | C | 56464980 | - | | | NM_001374736.1(DST):c.11567A>G (p.Tyr3856Cys) | 667 | DST | Uncertain significance | -1 | RCV001982201; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56464994 | 56464994 | T | C | 56464994 | - | | | NM_001374736.1(DST):c.11555G>A (p.Arg3852His) | 667 | DST | Uncertain significance | -1 | RCV001957668; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56465006 | 56465006 | C | T | 56465006 | - | | | NM_001374736.1(DST):c.11548G>A (p.Ala3850Thr) | 667 | DST | Uncertain significance | -1 | RCV001910685; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56465013 | 56465013 | C | T | 56465013 | - | | | NM_001374736.1(DST):c.11542-8C>T | 667 | DST | Conflicting interpretations of pathogenicity | rs370887046 | RCV000979358|RCV001085665; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56465027 | 56465027 | G | A | 6:g.56465027G>A | - | | | NM_001374736.1(DST):c.11542-9T>A | 667 | DST | Uncertain significance | -1 | RCV001928960; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56465028 | 56465028 | A | T | 56465028 | - | | | NM_001374736.1(DST):c.5283G>A (p.Lys1761=) | 667 | DST | Uncertain significance | rs1212618868 | RCV001243369; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475225 | 56475225 | C | T | 6:g.56475225C>T | - | | | NM_001374736.1(DST):c.5275G>C (p.Glu1759Gln) | 667 | DST | Uncertain significance | -1 | RCV001919239; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475233 | 56475233 | C | G | 56475233 | - | | | NM_001374736.1(DST):c.5272G>A (p.Val1758Ile) | 667 | DST | Uncertain significance | rs1554488238 | RCV000626087|RCV001301178; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475236 | 56475236 | C | T | 6:g.56475236C>T | ClinGen:CA364561073 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.5271G>C (p.Lys1757Asn) | 667 | DST | Uncertain significance | rs1182335902 | RCV001241316; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475237 | 56475237 | C | G | 6:g.56475237C>G | - | | | NM_001374736.1(DST):c.5266G>A (p.Val1756Ile) | 667 | DST | Uncertain significance | -1 | RCV002020865; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475242 | 56475242 | C | T | 56475242 | - | | | NM_001374736.1(DST):c.5265T>C (p.Asp1755=) | 667 | DST | Likely benign | -1 | RCV002091010; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475243 | 56475243 | A | G | 56475243 | - | | | NM_001374736.1(DST):c.5258C>T (p.Ser1753Leu) | 667 | DST | Uncertain significance | rs765577622 | RCV001245436; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475250 | 56475250 | G | A | 6:g.56475250G>A | - | | | NM_001374736.1(DST):c.5244A>G (p.Gln1748=) | 667 | DST | Likely benign | -1 | RCV002103963; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56475264 | 56475264 | T | C | 56475264 | - | | | NM_001374736.1(DST):c.5243A>C (p.Gln1748Pro) | 667 | DST | Benign | -1 | RCV001517024|RCV001615196; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56475265 | 56475265 | T | G | 56475265 | - | | | NM_001374736.1(DST):c.5234A>C (p.Lys1745Thr) | 667 | DST | Uncertain significance | rs540084594 | RCV001242758; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475274 | 56475274 | T | G | 6:g.56475274T>G | - | | | NM_001374736.1(DST):c.5230C>A (p.Leu1744Met) | 667 | DST | Uncertain significance | -1 | RCV001367019; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56475278 | 56475278 | G | T | 56475278 | - | | | NM_001374736.1(DST):c.5207A>G (p.Tyr1736Cys) | 667 | DST | Uncertain significance | -1 | RCV001989947; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475301 | 56475301 | T | C | 56475301 | - | | | NM_001374736.1(DST):c.5203A>G (p.Ser1735Gly) | 667 | DST | Uncertain significance | rs369218541 | RCV001295128; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475305 | 56475305 | T | C | 56475305 | - | | | NM_001374736.1(DST):c.5200G>A (p.Glu1734Lys) | 667 | DST | Uncertain significance | -1 | RCV002012452; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56475308 | 56475308 | C | T | 56475308 | - | | | NM_001374736.1(DST):c.5199G>A (p.Gln1733=) | 667 | DST | Likely benign | rs552582917 | RCV001171863|RCV001480170; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56475309 | 56475309 | C | T | 6:g.56475309C>T | - | | | NM_001374736.1(DST):c.5186T>G (p.Val1729Gly) | 667 | DST | Uncertain significance | -1 | RCV001962705; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475322 | 56475322 | A | C | 56475322 | - | | | NM_001374736.1(DST):c.5185G>A (p.Val1729Met) | 667 | DST | Uncertain significance | rs1236005807 | RCV001301994; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475323 | 56475323 | C | T | 56475323 | - | | | NM_001374736.1(DST):c.5182C>A (p.Gln1728Lys) | 667 | DST | Uncertain significance | rs768721876 | RCV001244361|RCV001508553; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56475326 | 56475326 | G | T | 6:g.56475326G>T | - | | | NM_001374736.1(DST):c.5173T>C (p.Leu1725=) | 667 | DST | Likely benign | -1 | RCV001403840; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475335 | 56475335 | A | G | 56475335 | - | | | NM_001374736.1(DST):c.5165G>T (p.Arg1722Ile) | 667 | DST | Uncertain significance | -1 | RCV002029579; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475343 | 56475343 | C | A | 56475343 | - | | | NM_001374736.1(DST):c.5155G>A (p.Asp1719Asn) | 667 | DST | Uncertain significance | rs770222634 | RCV001242820; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475353 | 56475353 | C | T | 6:g.56475353C>T | - | | | NM_001374736.1(DST):c.5148-6A>G | 667 | DST | Likely benign | -1 | RCV002083530; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475366 | 56475366 | T | C | 56475366 | - | | | NM_001374736.1(DST):c.5148-8T>C | 667 | DST | Likely benign | -1 | RCV001506757; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56475368 | 56475368 | A | G | 56475368 | - | | | NM_001374736.1(DST):c.5145C>T (p.Asp1715=) | 667 | DST | Uncertain significance | rs374134272 | RCV001246655; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56476308 | 56476308 | G | A | 6:g.56476308G>A | - | | | NM_001374736.1(DST):c.5110C>G (p.Gln1704Glu) | 667 | DST | Uncertain significance | rs2098544919 | RCV001300051; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56476343 | 56476343 | G | C | 56476343 | - | | | NM_001374736.1(DST):c.5106A>C (p.Ala1702=) | 667 | DST | Likely benign | -1 | RCV001453041; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56476347 | 56476347 | T | G | 56476347 | - | | | NM_001374736.1(DST):c.5100G>A (p.Ser1700=) | 667 | DST | Likely benign | -1 | RCV001499833; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56476353 | 56476353 | C | T | 56476353 | - | | | NM_001374736.1(DST):c.5099C>T (p.Ser1700Leu) | 667 | DST | Uncertain significance | rs763411218 | RCV001240788; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56476354 | 56476354 | G | A | 6:g.56476354G>A | - | | | NM_001374736.1(DST):c.5098T>C (p.Ser1700Pro) | 667 | DST | Uncertain significance | rs369856118 | RCV001301239; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56476355 | 56476355 | A | G | 56476355 | - | | | NM_001374736.1(DST):c.5088G>A (p.Lys1696=) | 667 | DST | Likely benign | -1 | RCV001497647; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56476365 | 56476365 | C | T | 56476365 | - | | | NM_001374736.1(DST):c.5083A>G (p.Lys1695Glu) | 667 | DST | Uncertain significance | rs1447313948 | RCV001241195; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56476370 | 56476370 | T | C | 6:g.56476370T>C | - | | | NM_001374736.1(DST):c.5081C>T (p.Thr1694Ile) | 667 | DST | Uncertain significance | -1 | RCV002042965; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56476372 | 56476372 | G | A | 56476372 | - | | | NM_001374736.1(DST):c.5077T>C (p.Ser1693Pro) | 667 | DST | Uncertain significance | rs763799764 | RCV001243018; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56476376 | 56476376 | A | G | 6:g.56476376A>G | - | | | NM_001374736.1(DST):c.5076dup (p.Ser1693fs) | 667 | DST | Pathogenic | rs2098545189 | RCV001239927; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56476376 | 56476377 | A | AT | 6:g.56476376_56476377insT | - | | | NM_001374736.1(DST):c.5059-17C>G | 667 | DST | Benign | -1 | RCV001699615|RCV001703328|RCV002077128; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56476411 | 56476411 | G | C | 56476411 | - | | | NM_001374736.1(DST):c.5058+9A>G | 667 | DST | Likely benign | -1 | RCV002185149; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56479145 | 56479145 | T | C | 56479145 | - | | | NM_001374736.1(DST):c.5048C>G (p.Ser1683Cys) | 667 | DST | Uncertain significance | -1 | RCV001366246; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56479164 | 56479164 | G | C | 56479164 | - | | | NM_001374736.1(DST):c.5040T>A (p.Pro1680=) | 667 | DST | Likely benign | -1 | RCV002039023; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56479172 | 56479172 | A | T | 56479172 | - | | | NM_001374736.1(DST):c.5033G>C (p.Gly1678Ala) | 667 | DST | Uncertain significance | rs751524469 | RCV001246459; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56479179 | 56479179 | C | G | 6:g.56479179C>G | - | | | NM_001374736.1(DST):c.5029G>T (p.Ala1677Ser) | 667 | DST | Uncertain significance | rs370590691 | RCV000801146|RCV001759524; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56479183 | 56479183 | C | A | 6:g.56479183C>A | - | | | NM_001374736.1(DST):c.5015A>C (p.Lys1672Thr) | 667 | DST | Uncertain significance | -1 | RCV002003699; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56479197 | 56479197 | T | G | 56479197 | - | | | NM_001374736.1(DST):c.5006A>G (p.Lys1669Arg) | 667 | DST | Uncertain significance | -1 | RCV002024235; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56479206 | 56479206 | T | C | 56479206 | - | | | NM_001374736.1(DST):c.4999A>G (p.Ile1667Val) | 667 | DST | Uncertain significance | rs756231158 | RCV001243699; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56479213 | 56479213 | T | C | 6:g.56479213T>C | - | | | NM_001374736.1(DST):c.4997A>T (p.Asn1666Ile) | 667 | DST | Conflicting interpretations of pathogenicity | rs183804748 | RCV000872150|RCV001086044; | N | MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56479215 | 56479215 | T | A | 6:g.56479215T>A | - | | | NM_001374736.1(DST):c.4990G>T (p.Val1664Leu) | 667 | DST | Benign/Likely benign | rs76257231 | RCV000872213|RCV001785746; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202 | 6 | 56479222 | 56479222 | C | A | 6:g.56479222C>A | - | | | NM_001374736.1(DST):c.4958A>G (p.His1653Arg) | 667 | DST | Uncertain significance | -1 | RCV001876888; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56479254 | 56479254 | T | C | 56479254 | - | | | NM_001374736.1(DST):c.4930-11A>G | 667 | DST | Likely benign | -1 | RCV002082154; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56479293 | 56479293 | T | C | 56479293 | - | | | NM_001374736.1(DST):c.4930-300A>T | 667 | DST | Likely benign | rs75951731 | RCV000358324; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56479582 | 56479582 | T | A | 6:g.56479582T>A | ClinGen:CA10627280 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.4930-367C>T | 667 | DST | Uncertain significance | rs150986597 | RCV000268213; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56479649 | 56479649 | G | A | 6:g.56479649G>A | ClinGen:CA10622489 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.4930-428G>A | 667 | DST | Uncertain significance | rs886061640 | RCV000323446; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56479710 | 56479710 | C | T | 6:g.56479710C>T | ClinGen:CA10624437 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.4930-430A>G | 667 | DST | Uncertain significance | rs140470023 | RCV000373387; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56479712 | 56479712 | T | C | NC_000006.11:g.56479712T>C | ClinGen:CA10622490 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.4930-438G>C | 667 | DST | Uncertain significance | rs145471325 | RCV000259792; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56479720 | 56479720 | C | G | NC_000006.11:g.56479720C>G | ClinGen:CA10624438 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.4930-460A>G | 667 | DST | Uncertain significance | rs886061641 | RCV000319691; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56479742 | 56479742 | T | C | NC_000006.11:g.56479742T>C | ClinGen:CA10627296 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.4930-620A>C | 667 | DST | Uncertain significance | rs886061642 | RCV000374394; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56479902 | 56479902 | T | G | NC_000006.11:g.56479902T>G | ClinGen:CA10624439 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.4930-651G>A | 667 | DST | Uncertain significance | rs116219382 | RCV000294052; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56479933 | 56479933 | C | T | NC_000006.11:g.56479933C>T | ClinGen:CA10622496 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.4930-772_4930-771dup | 667 | DST | Benign | rs3841165 | RCV000389754|RCV001683423; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56480052 | 56480053 | T | TAA | NC_000006.11:g.56480062_56480063dup | ClinGen:CA10627286 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.4930-771dup | 667 | DST | Benign | rs3841165 | RCV000349231|RCV001675867; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56480052 | 56480053 | T | TA | NC_000006.11:g.56480063dup | ClinGen:CA10627297 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.4930-864A>C | 667 | DST | Conflicting interpretations of pathogenicity | rs17674547 | RCV000295359|RCV001731629; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202 | 6 | 56480146 | 56480146 | T | G | NC_000006.11:g.56480146T>G | ClinGen:CA10627287 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.4930-984G>A | 667 | DST | Uncertain significance | rs77216326 | RCV000345667; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56480266 | 56480266 | C | T | NC_000006.11:g.56480266C>T | ClinGen:CA3869861 | C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI; | | NM_001374736.1(DST):c.4930-1037C>T | 667 | DST | Uncertain significance | rs773910675 | RCV000814990; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56480319 | 56480319 | G | A | 6:g.56480319G>A | - | | | NM_001374736.1(DST):c.4930-1043A>G | 667 | DST | Uncertain significance | rs759049357 | RCV000651738; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56480325 | 56480325 | T | C | 6:g.56480325T>C | ClinGen:CA364561909 | C3809470 615425 Epidermolysis bullosa simplex, autosomal recessive 2; | | NM_001374736.1(DST):c.4930-1049T>C | 667 | DST | Uncertain significance | rs374732834 | RCV000651724; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56480331 | 56480331 | A | G | NC_000006.11:g.56480331A>G | ClinGen:CA139204878 | C3809470 615425 Epidermolysis bullosa simplex, autosomal recessive 2; | | NM_001374736.1(DST):c.4930-1051C>A | 667 | DST | Uncertain significance | rs1187500129 | RCV001233780; | N | MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181 | 6 | 56480333 | 56480333 | G | T | 6:g.56480333G>T | - | | | NM_001374736.1(DST):c.4930-1051C>T | 667 | DST | Likely benign | -1 | RCV002209704; | N | MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381 | 6 | 56480333 |
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