MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Hereditary Sensory and Autonomic Neuropathies (D009477)
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NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)

       Child Nodes:



 Sister Nodes: 
..expandCATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..expandCervical hypertrichosis neuropathy (C537956)
..expandDysautonomia, Familial (D004402) Child1
..expandHamanishi Ueba Tsuji syndrome (C535624)
..expandHereditary Sensory and Autonomic Neuropathy Type Ie (C580162)
..expandNeuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia (C563870)
..expandNeuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux (C564296)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
..expandNeuropathy, Hereditary Sensory And Autonomic, Type IIB (C567738)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI (OMIM:614653)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
..expandNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
..expandNEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
..expandNEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
..expandNEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
..expandNEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
..expandNeuropathy, Hereditary Sensory, X-Linked (C564090)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
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 LSDB:  
Genes: DST;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000522Alacrima
3 HP:0002104Apnea
4 HP:0001284Areflexia
5 HP:0007610Blotching pigmentation of the skin
6 HP:0001662Bradycardia
7 HP:0000559Corneal scarring
8 HP:0011968Feeding difficulties
9 HP:0001945Fever
10 HP:0001371Flexion contracture
11 HP:0001510Growth delay
NAMDC:  Growth delay
12 HP:0001188Hand clenching
13 HP:0000218High palateHP:0040283
14 HP:0000975Hyperhidrosis
15 HP:0003093Limited hip extension
16 HP:0000369Low-set earsHP:0040283
17 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
18 HP:0000194Open mouth
19 HP:0002093Respiratory insufficiency
20 HP:0000763Sensory neuropathy
21 HP:0000331Short chinHP:0040283
22 HP:0001649Tachycardia
23 HP:0001762Talipes equinovarus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000006.11:g.(?_56323793)_(56507596_?)dup667DSTUncertain significance-1RCV000809299; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632379356507596-
NC_000006.12:g.(?_56458995)_(56642798_?)del667DSTPathogenic-1RCV001033643; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632379356507596-1-
NM_001374736.1(DST):c.23438del (p.Asp7813fs)667DSTUncertain significance-1RCV001367378; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563238225632382256323821-
NM_001374736.1(DST):c.23437G>A (p.Asp7813Asn)667DSTUncertain significancers956139209RCV001247638; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656323823563238236:g.56323823C>T-
NM_001374736.1(DST):c.23435T>G (p.Leu7812Trp)667DSTUncertain significance-1RCV001367243; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563238255632382556323825-
NM_001374736.1(DST):c.23433A>G (p.Lys7811=)667DSTLikely benign-1RCV001474737; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563238275632382756323827-
NM_001374736.1(DST):c.23432A>G (p.Lys7811Arg)667DSTUncertain significancers201891015RCV001242561|RCV002402769; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656323828563238286:g.56323828T>C-
NM_001374736.1(DST):c.23428_23429delinsCC (p.Ser7810Pro)667DSTUncertain significance-1RCV002725487; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632383156323832NC_000006.11:g.56323831_56323832delinsGG-
NM_001374736.1(DST):c.23425G>C (p.Ala7809Pro)667DSTUncertain significance-1RCV001955668; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563238355632383556323835-
NM_001374736.1(DST):c.23415G>A (p.Arg7805=)667DSTLikely benign-1RCV001490249; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563238455632384556323845-
NM_001374736.1(DST):c.23406G>A (p.Thr7802=)667DSTLikely benign-1RCV001411394; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563238545632385456323854-
NM_001374736.1(DST):c.23405C>T (p.Thr7802Met)667DSTUncertain significancers367598583RCV001245650|RCV002261324|RCV002411905; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202|MeSH:D030342,MedGen:C0950123656323855563238556:g.56323855G>A-
NM_001374736.1(DST):c.23402C>T (p.Pro7801Leu)667DSTLikely pathogenicrs1242078669RCV000754750; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632385856323858NC_000006.11:g.56323858G>A-
NM_001374736.1(DST):c.23385G>A (p.Ala7795=)667DSTLikely benign-1RCV001466797; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563238755632387556323875-
NM_001374736.1(DST):c.23361A>G (p.Arg7787=)667DSTLikely benign-1RCV001410536; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563238995632389956323899-
NM_001374736.1(DST):c.23360G>A (p.Arg7787Gln)667DSTUncertain significance-1RCV002015617|RCV002407271; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563239005632390056323900-
NM_001374736.1(DST):c.23353A>T (p.Thr7785Ser)667DSTUncertain significance-1RCV002780795; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632390756323907NC_000006.11:g.56323907T>A-
NM_001374736.1(DST):c.23334C>G (p.Val7778=)667DSTLikely benign-1RCV001428407; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563239265632392656323926-
NM_001374736.1(DST):c.23321A>C (p.Asp7774Ala)667DSTUncertain significance-1RCV001887913; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563239395632393956323939-
NM_001374736.1(DST):c.23311G>A (p.Val7771Met)667DSTUncertain significance-1RCV001359472|RCV002548536; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563239495632394956323949-
NM_001374736.1(DST):c.23310C>T (p.Ser7770=)667DSTLikely benign-1RCV001448604; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563239505632395056323950-
NM_001374736.1(DST):c.23306A>T (p.Gln7769Leu)667DSTUncertain significance-1RCV002653316; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632395456323954NC_000006.11:g.56323954T>A-
NM_001374736.1(DST):c.23304C>A (p.Ile7768_Gln7769=)667DSTLikely benign-1RCV003078301; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632395656323956NC_000006.11:g.56323956G>T-
NM_001374736.1(DST):c.23264G>A (p.Arg7755His)667DSTUncertain significance-1RCV002004676|RCV002398004; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236563239965632399656323996-
NM_001374736.1(DST):c.23263C>T (p.Arg7755Cys)667DSTUncertain significancers868335418RCV001307740|RCV002402861; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236563239975632399756323997-
NM_001374736.1(DST):c.23250C>T (p.Ser7750=)667DSTLikely benign-1RCV002181469; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563240105632401056324010-
NM_001374736.1(DST):c.23234G>A (p.Gly7745Glu)667DSTUncertain significance-1RCV001968665; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563240265632402656324026-
NM_001374736.1(DST):c.23229A>G (p.Arg7743_Ala7744=)667DSTUncertain significance-1RCV002614699; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632403156324031NC_000006.11:g.56324031T>C-
NM_001374736.1(DST):c.23228G>A (p.Arg7743Gln)667DSTUncertain significancers762220017RCV001357327|RCV001244951|RCV002568607; NMedGen:CN169374|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656324032563240326:g.56324032C>T-
NM_001374736.1(DST):c.23220A>T (p.Pro7740=)667DSTLikely benign-1RCV001435076; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563240405632404056324040-
NM_001374736.1(DST):c.23205G>T (p.Lys7735Asn)667DSTUncertain significancers1476392770RCV001245796|RCV002402781; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656324055563240556:g.56324055C>A-
NM_001374736.1(DST):c.23201A>T (p.Lys7734Met)667DSTUncertain significancers1168581623RCV001248043; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656324059563240596:g.56324059T>A-
NM_001374736.1(DST):c.23195A>T (p.Asp7732Val)667DSTUncertain significancers2094197198RCV001241870; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656324065563240656:g.56324065T>A-
NM_001374736.1(DST):c.23195-6C>T667DSTConflicting interpretations of pathogenicity-1RCV002405938|RCV003097099; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563240715632407156324071-
NM_001374736.1(DST):c.23195-8T>C667DSTLikely benign-1RCV001419149; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563240735632407356324073-
NM_001374736.1(DST):c.23195-16T>C667DSTUncertain significance-1RCV002593872; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632408156324081NC_000006.11:g.56324081A>G-
NM_001374736.1(DST):c.23194+19T>A667DSTLikely benign-1RCV002190947; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563249105632491056324910-
NM_001374736.1(DST):c.23194+5G>C667DSTUncertain significance-1RCV003081449; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632492456324924NC_000006.11:g.56324924C>G-
NM_001374736.1(DST):c.23194+5G>A667DSTUncertain significance-1RCV003058023; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632492456324924NC_000006.11:g.56324924C>T-
NM_001374736.1(DST):c.23187G>A (p.Gln7729=)667DSTBenign-1RCV001514458; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563249365632493656324936-
NM_001374736.1(DST):c.23183C>T (p.Thr7728Ile)667DSTUncertain significance-1RCV001365782; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563249405632494056324940-
NM_001374736.1(DST):c.23173A>G (p.Arg7725Gly)667DSTUncertain significance-1RCV001969614; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563249505632495056324950-
NM_001374736.1(DST):c.23157A>G (p.Ile7719Met)667DSTUncertain significance-1RCV003077753; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632496656324966NC_000006.11:g.56324966T>C-
NM_001374736.1(DST):c.23155A>T (p.Ile7719Leu)667DSTUncertain significance-1RCV002740681; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632496856324968NC_000006.11:g.56324968T>A-
NM_001374736.1(DST):c.23146A>G (p.Ser7716Gly)667DSTUncertain significance-1RCV002405853|RCV003100783; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563249775632497756324977-
NM_001374736.1(DST):c.23144A>G (p.Asp7715Gly)667DSTUncertain significance-1RCV002770735; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632497956324979NC_000006.11:g.56324979T>C-
NM_001374736.1(DST):c.23141A>C (p.Glu7714Ala)667DSTUncertain significance-1RCV002023189; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563249825632498256324982-
NM_001374736.1(DST):c.23109A>T (p.Gly7703_Tyr7704=)667DSTUncertain significance-1RCV002616538; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632501456325014NC_000006.11:g.56325014T>A-
NM_001374736.1(DST):c.23099G>A (p.Arg7700Gln)667DSTUncertain significance-1RCV003077792; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632502456325024NC_000006.11:g.56325024C>T-
NM_001374736.1(DST):c.23094G>A (p.Lys7698=)667DSTLikely benign-1RCV001422114; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563250295632502956325029-
NM_001374736.1(DST):c.23093A>G (p.Lys7698Arg)667DSTUncertain significancers2094258869RCV001239928; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656325030563250306:g.56325030T>C-
NM_001374736.1(DST):c.23090G>A (p.Ser7697Asn)667DSTUncertain significancers1337269536RCV001347750; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563250335632503356325033-
NM_001374736.1(DST):c.23079A>G (p.Pro7693=)667DSTLikely benign-1RCV001418027; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563250445632504456325044-
NM_001374736.1(DST):c.23076G>A (p.Thr7692=)667DSTLikely benign-1RCV001490647; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563250475632504756325047-
NM_001374736.1(DST):c.23075C>T (p.Thr7692Met)667DSTUncertain significance-1RCV001924304|RCV002388862; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236563250485632504856325048-
NM_001374736.1(DST):c.23071-2A>G667DSTLikely pathogenic-1RCV001976172; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563250545632505456325054-
NM_001374736.1(DST):c.23071-18G>A667DSTLikely benign-1RCV002167555; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563250705632507056325070-
NM_001374736.1(DST):c.23070+7T>G667DSTLikely benign-1RCV002157630; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563278375632783756327837-
NM_001374736.1(DST):c.23065G>A (p.Ala7689Thr)667DSTBenign-1RCV001510452|RCV001664906|RCV001664907; NMONDO: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|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41216563278495632784956327849-
NM_001374736.1(DST):c.23061A>T (p.Pro7687=)667DSTLikely benign-1RCV001451925; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563278535632785356327853-
NM_001374736.1(DST):c.23058G>A (p.Val7686=)667DSTBenign/Likely benign-1RCV001510454|RCV001732192; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN5172026563278565632785656327856-
NM_001374736.1(DST):c.23056G>A (p.Val7686Met)667DSTUncertain significancers774799170RCV000803193; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656327858563278586:g.56327858C>T-
NM_001374736.1(DST):c.23055C>T (p.Pro7685_Val7686=)667DSTLikely benignrs201991278RCV000979603; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656327859563278596:g.56327859G>A-
NM_001374736.1(DST):c.23035G>T (p.Ala7679Ser)667DSTConflicting interpretations of pathogenicityrs201138592RCV000578982|RCV000980803; NMedGen:CN169374|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656327879563278796:g.56327879C>AClinGen:CA3866063CN169374 not specified;
NM_001374736.1(DST):c.23025T>C (p.Pro7675=)667DSTLikely benign-1RCV002198289; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563278895632788956327889-
NM_001374736.1(DST):c.23022T>A (p.Thr7674=)667DSTLikely benign-1RCV001405651; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563278925632789256327892-
NM_001374736.1(DST):c.23016G>A (p.Met7672Ile)667DSTUncertain significance-1RCV001924415; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563278985632789856327898-
NM_001374736.1(DST):c.23015T>C (p.Met7672Thr)667DSTUncertain significancers751377992RCV001342824; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563278995632789956327899-
NM_001374736.1(DST):c.22997G>C (p.Trp7666Ser)667DSTUncertain significancers1035396080RCV001239035; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656327917563279176:g.56327917C>G-
NM_001374736.1(DST):c.22993C>G (p.Pro7665Ala)667DSTUncertain significance-1RCV001986538; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563279215632792156327921-
NM_001374736.1(DST):c.22987G>T (p.Gly7663Cys)667DSTUncertain significancers1426250382RCV001239804; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656327927563279276:g.56327927C>A-
NM_001374736.1(DST):c.22982A>G (p.Asn7661Ser)667DSTUncertain significance-1RCV001992722; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563279325632793256327932-
NM_001374736.1(DST):c.22979G>A (p.Arg7660His)667DSTUncertain significancers746310021RCV000822745|RCV002390702; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656327935563279356:g.56327935C>T-
NM_001374736.1(DST):c.22978C>T (p.Arg7660Cys)667DSTUncertain significance-1RCV001949891|RCV002397926; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563279365632793656327936-
NM_001374736.1(DST):c.22975A>T (p.Thr7659Ser)667DSTUncertain significance-1RCV002846464; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632793956327939NC_000006.11:g.56327939T>A-
NM_001374736.1(DST):c.22964T>C (p.Leu7655Pro)667DSTUncertain significancers375019954RCV001248466; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656327950563279506:g.56327950A>G-
NM_001374736.1(DST):c.22963C>T (p.Leu7655Phe)667DSTUncertain significance-1RCV001363464; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563279515632795156327951-
NM_001374736.1(DST):c.22960-8C>T667DSTLikely benign-1RCV002129484; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563279625632796256327962-
NM_001374736.1(DST):c.22959+18G>A667DSTUncertain significance-1RCV003077794; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632834556328345NC_000006.11:g.56328345C>T-
NM_001374736.1(DST):c.22959+3A>G667DSTUncertain significancers375303601RCV001239595|RCV001699523|RCV002393612; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202|MeSH:D030342,MedGen:C0950123656328360563283606:g.56328360T>C-
NM_001374736.1(DST):c.22959+1G>A667DSTLikely pathogenicrs2094441686RCV001241867; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656328362563283626:g.56328362C>T-
NM_001374736.1(DST):c.22955C>T (p.Pro7652Leu)667DSTUncertain significance-1RCV001371560; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563283675632836756328367-
NM_001374736.1(DST):c.22950C>A (p.Thr7650=)667DSTLikely benign-1RCV002085724; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563283725632837256328372-
NM_001374736.1(DST):c.22939C>T (p.Pro7647Ser)667DSTUncertain significancers201952309RCV001241383|RCV002402764; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656328383563283836:g.56328383G>A-
NM_001374736.1(DST):c.22934A>T (p.Gln7645Leu)667DSTUncertain significancers2094442685RCV001339140; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563283885632838856328388-
NM_001374736.1(DST):c.22932A>C (p.Pro7644_Gln7645=)667DSTBenignrs374094129RCV000981885; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656328390563283906:g.56328390T>G-
NM_001374736.1(DST):c.22922C>T (p.Ala7641Val)667DSTUncertain significancers750916776RCV001299771; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563284005632840056328400-
NM_001374736.1(DST):c.22917G>A (p.Ala7639=)667DSTLikely benign-1RCV001435550; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563284055632840556328405-
NM_001374736.1(DST):c.22916C>T (p.Ala7639Val)667DSTConflicting interpretations of pathogenicityrs201429821RCV000979588|RCV001081929; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656328406563284066:g.56328406G>A-
NM_001374736.1(DST):c.22896T>C (p.Thr7632_Ser7633=)667DSTBenign/Likely benignrs200781365RCV000979093|RCV001699496; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656328426563284266:g.56328426A>G-
NM_001374736.1(DST):c.22893C>T (p.Ser7631=)667DSTLikely benign-1RCV001465132; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563284295632842956328429-
NM_001374736.1(DST):c.22887C>T (p.Asn7629_Arg7630=)667DSTUncertain significance-1RCV003081630; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632843556328435NC_000006.11:g.56328435G>A-
NM_001374736.1(DST):c.22886A>G (p.Asn7629Ser)667DSTUncertain significancers1270972086RCV001239513|RCV002402756; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656328436563284366:g.56328436T>C-
NM_001374736.1(DST):c.22875C>A (p.Gly7625=)667DSTLikely benign-1RCV002150875; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563284475632844756328447-
NM_001374736.1(DST):c.22863A>C (p.Pro7621=)667DSTLikely benign-1RCV002111511; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563284595632845956328459-
NM_001374736.1(DST):c.22857C>G (p.Ser7619=)667DSTLikely benign-1RCV001431543; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563284655632846556328465-
NM_001374736.1(DST):c.22850G>T (p.Arg7617Leu)667DSTUncertain significance-1RCV002609715; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165632847256328472NC_000006.11:g.56328472C>A-
NM_001374736.1(DST):c.22849C>G (p.Arg7617Gly)667DSTUncertain significancers2094446184RCV001301383; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563284735632847356328473-
NM_001374736.1(DST):c.22844G>A (p.Arg7615Gln)667DSTUncertain significance-1RCV001369142; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563284785632847856328478-
NM_001374736.1(DST):c.22843C>T (p.Arg7615Ter)667DSTPathogenicrs948596983RCV001247773; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656328479563284796:g.56328479G>A-
NM_001374736.1(DST):c.22838G>A (p.Arg7613Gln)667DSTUncertain significance-1RCV001988899; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563284845632848456328484-
NM_001374736.1(DST):c.22826T>C (p.Met7609Thr)667DSTUncertain significance-1RCV001926393; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563284965632849656328496-
NM_001374736.1(DST):c.22822G>T (p.Gly7608Cys)667DSTUncertain significancers753485138RCV001242889|RCV001335760; NMONDO: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:412181656328500563285006:g.56328500C>A-
NM_001374736.1(DST):c.22811G>A (p.Gly7604Asp)667DSTUncertain significance-1RCV001947790|RCV002397911; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236563285115632851156328511-
NM_001374736.1(DST):c.22810G>A (p.Gly7604Ser)667DSTUncertain significance-1RCV002861360; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632851256328512NC_000006.11:g.56328512C>T-
NM_001374736.1(DST):c.22805C>T (p.Ala7602Val)667DSTUncertain significancers375687689RCV001242957; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656328517563285176:g.56328517G>A-
NM_001374736.1(DST):c.22798A>G (p.Ile7600Val)667DSTUncertain significance-1RCV001944571; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563285245632852456328524-
NM_001374736.1(DST):c.22787G>A (p.Arg7596His)667DSTUncertain significancers746750215RCV001240859; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656328535563285356:g.56328535C>T-
NM_001374736.1(DST):c.22786C>T (p.Arg7596Cys)667DSTUncertain significance-1RCV002003242; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563285365632853656328536-
NM_001374736.1(DST):c.22784T>C (p.Leu7595Pro)667DSTUncertain significance-1RCV003021344; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632853856328538NC_000006.11:g.56328538A>G-
NM_001374736.1(DST):c.22764A>G (p.Lys7588=)667DSTLikely benign-1RCV001394181; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563285585632855856328558-
NM_001374736.1(DST):c.22760-15G>A667DSTUncertain significance-1RCV003027229; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165632857756328577NC_000006.11:g.56328577C>T-
NM_001374736.1(DST):c.22720G>T (p.Glu7574Ter)667DSTPathogenic-1RCV001775447; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563295225632952256329522-
NM_001374736.1(DST):c.22687+18A>G667DSTLikely benign-1RCV002107758; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563308585633085856330858-
NM_001374736.1(DST):c.22687+15A>C667DSTBenign-1RCV002185765; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563308615633086156330861-
NC_000006.11:g.56330866-?_56331003+?del667DSTPathogenic-1RCV001390146; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633086656330866-1-
NM_001374736.1(DST):c.22643G>A (p.Trp7548Ter)667DSTPathogenic-1RCV002834877; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633092056330920NC_000006.11:g.56330920C>T-
NM_001374736.1(DST):c.22642T>A (p.Trp7548Arg)667DSTUncertain significancers2094566911RCV001304824; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563309215633092156330921-
NM_001374736.1(DST):c.22601G>A (p.Arg7534Gln)667DSTUncertain significancers1255175152RCV001243300; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656330962563309626:g.56330962C>T-
NM_001374736.1(DST):c.22593A>T (p.Arg7531=)667DSTLikely benign-1RCV001488991; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563309705633097056330970-
NM_001374736.1(DST):c.22593A>G (p.Arg7531=)667DSTLikely benign-1RCV002115423; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563309705633097056330970-
NM_001374736.1(DST):c.22584G>A (p.Gln7528=)667DSTLikely benign-1RCV002196485; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563309795633097956330979-
NM_001374736.1(DST):c.22570-4A>G667DSTUncertain significancers199834581RCV000804073; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656330997563309976:g.56330997T>C-
NM_001374736.1(DST):c.22570-17C>G667DSTBenign-1RCV002118134; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563310105633101056331010-
NM_001374736.1(DST):c.22570-20T>G667DSTUncertain significance-1RCV003081114; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633101356331013NC_000006.11:g.56331013A>C-
NM_001374736.1(DST):c.22569+20A>G667DSTUncertain significance-1RCV003023451; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633376056333760NC_000006.11:g.56333760T>C-
NM_001374736.1(DST):c.22569+2T>C667DSTLikely pathogenic-1RCV003024696; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633377856333778NC_000006.11:g.56333778A>G-
NM_001374736.1(DST):c.22558C>T (p.Leu7520=)667DSTLikely benign-1RCV002161740; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563337915633379156333791-
NM_001374736.1(DST):c.22552-20C>A667DSTLikely benign-1RCV002603612; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633381756333817NC_000006.11:g.56333817G>T-
NM_001374736.1(DST):c.22551+18T>A667DSTLikely benign-1RCV003081450; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633466356334663NC_000006.11:g.56334663A>T-
NM_001374736.1(DST):c.22551+16A>G667DSTLikely benign-1RCV002144748; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563346655633466556334665-
NM_001374736.1(DST):c.22551+8T>C667DSTLikely benign-1RCV001470711; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563346735633467356334673-
NM_001374736.1(DST):c.22530G>C (p.Gln7510His)667DSTUncertain significancers750236520RCV001242697|RCV002393628; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656334702563347026:g.56334702C>G-
NM_001374736.1(DST):c.22523T>C (p.Val7508Ala)667DSTUncertain significance-1RCV003029115; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633470956334709NC_000006.11:g.56334709A>G-
NM_001374736.1(DST):c.22484G>T (p.Arg7495Met)667DSTUncertain significance-1RCV001933675; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563347485633474856334748-
NM_001374736.1(DST):c.22479G>A (p.Val7493_Thr7494=)667DSTLikely benign-1RCV003078874; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633475356334753NC_000006.11:g.56334753C>T-
NM_001374736.1(DST):c.22477-14A>G667DSTLikely benign-1RCV002084279; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563347695633476956334769-
NM_001374736.1(DST):c.22476+19T>C667DSTUncertain significance-1RCV003072486; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633490756334907NC_000006.11:g.56334907A>G-
NM_001374736.1(DST):c.22476+1G>A667DSTLikely pathogenic-1RCV002021742; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563349255633492556334925-
NM_001374736.1(DST):c.22470A>G (p.Glu7490=)667DSTLikely benign-1RCV002120260; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563349325633493256334932-
NM_001374736.1(DST):c.22467C>T (p.Ile7489=)667DSTLikely benign-1RCV001398630; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563349355633493556334935-
NM_001374736.1(DST):c.22458C>T (p.Ala7486_Asp7487=)667DSTLikely benignrs554828969RCV000979884; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656334944563349446:g.56334944G>A-
NM_001374736.1(DST):c.22455T>C (p.Asp7485=)667DSTLikely benign-1RCV001440621; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563349475633494756334947-
NM_001374736.1(DST):c.22429A>G (p.Lys7477Glu)667DSTUncertain significance-1RCV001989195; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563349735633497356334973-
NM_001374736.1(DST):c.22414G>A (p.Ala7472Thr)667DSTUncertain significance-1RCV002812158; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633498856334988NC_000006.11:g.56334988C>T-
NM_001374736.1(DST):c.22413A>C (p.Ala7471=)667DSTLikely benign-1RCV001490198; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563349895633498956334989-
NM_001374736.1(DST):c.22408G>A (p.Val7470Ile)667DSTUncertain significance-1RCV003088458; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633499456334994NC_000006.11:g.56334994C>T-
NM_001374736.1(DST):c.22383T>A (p.Asp7461Glu)667DSTUncertain significance-1RCV001892906; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563350195633501956335019-
NM_001374736.1(DST):c.22380C>T (p.Gly7460=)667DSTUncertain significance-1RCV001935565; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563350225633502256335022-
NM_001374736.1(DST):c.22377T>C (p.Asp7459=)667DSTLikely benign-1RCV002102523; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563350255633502556335025-
NM_001374736.1(DST):c.22363A>G (p.Ile7455Val)667DSTUncertain significance-1RCV001931362|RCV002397937; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236563350395633503956335039-
NM_001374736.1(DST):c.22359A>C (p.Ala7453=)667DSTLikely benign-1RCV002199346; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563350435633504356335043-
NM_001374736.1(DST):c.22351G>A (p.Ala7451Thr)667DSTUncertain significance-1RCV001995705; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563350515633505156335051-
NM_001374736.1(DST):c.22350C>T (p.Ser7450=)667DSTLikely benign-1RCV002104631; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563350525633505256335052-
NM_001374736.1(DST):c.22338C>T (p.Arg7446=)667DSTLikely benign-1RCV002183068; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563350645633506456335064-
NM_001374736.1(DST):c.22337G>A (p.Arg7446His)667DSTUncertain significancers768427386RCV001241058; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656335065563350656:g.56335065C>T-
NM_001374736.1(DST):c.22322-20C>T667DSTLikely benign-1RCV002209946; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563351005633510056335100-
NM_001374736.1(DST):c.22321+13A>G667DSTBenign-1RCV002129798; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563358915633589156335891-
NM_001374736.1(DST):c.22318T>A (p.Ser7440Thr)667DSTUncertain significance-1RCV002010601; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563359075633590756335907-
NM_001374736.1(DST):c.22312C>A (p.Leu7438Ile)667DSTUncertain significance-1RCV001905866; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563359135633591356335913-
NM_001374736.1(DST):c.22305T>C (p.Asp7435_Gly7436=)667DSTBenign/Likely benignrs114094997RCV000979025|RCV001766801; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656335920563359206:g.56335920A>G-
NM_001374736.1(DST):c.22299T>C (p.Phe7433_Ile7434=)667DSTUncertain significance-1RCV003077786; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633592656335926NC_000006.11:g.56335926A>G-
NM_001374736.1(DST):c.22288C>T (p.Arg7430Trp)667DSTUncertain significance-1RCV001362450|RCV002404857; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563359375633593756335937-
NM_001374736.1(DST):c.22287G>A (p.Thr7429=)667DSTLikely benign-1RCV001460946; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563359385633593856335938-
NM_001374736.1(DST):c.22286C>T (p.Thr7429Met)667DSTUncertain significance-1RCV001925517; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563359395633593956335939-
NM_001374736.1(DST):c.22251C>T (p.Phe7417=)667DSTLikely benign-1RCV001446879; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563359745633597456335974-
NM_001374736.1(DST):c.22248C>T (p.Phe7416=)667DSTLikely benign-1RCV001450492; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563359775633597756335977-
NM_001374736.1(DST):c.22206C>T (p.Tyr7402_Met7403=)667DSTUncertain significance-1RCV003061389; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633601956336019NC_000006.11:g.56336019G>A-
NM_001374736.1(DST):c.22203dup (p.Tyr7402fs)667DSTPathogenic-1RCV002613731; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633602156336022NC_000006.11:g.56336027dup-
NM_001374736.1(DST):c.22195C>T (p.Arg7399Cys)667DSTConflicting interpretations of pathogenicity-1RCV001408343|RCV002261358; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN5172026563360305633603056336030-
NM_001374736.1(DST):c.22171G>A (p.Ala7391Thr)667DSTUncertain significancers772254325RCV001307541; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563360545633605456336054-
NM_001374736.1(DST):c.22171G>T (p.Ala7391Ser)667DSTUncertain significance-1RCV001373630; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563360545633605456336054-
NM_001374736.1(DST):c.22164G>T (p.Arg7388Ser)667DSTUncertain significance-1RCV001950706; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563360615633606156336061-
NM_001374736.1(DST):c.22158+20C>G667DSTUncertain significance-1RCV002630521; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633683756336837NC_000006.11:g.56336837G>C-
NM_001374736.1(DST):c.22141T>C (p.Leu7381_Asp7382=)667DSTUncertain significance-1RCV002642840; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633687456336874NC_000006.11:g.56336874A>G-
NM_001374736.1(DST):c.22134T>C (p.Asn7378=)667DSTLikely benign-1RCV001432895; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563368815633688156336881-
NM_001374736.1(DST):c.22133A>G (p.Asn7378Ser)667DSTUncertain significancers763569325RCV001248119; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656336882563368826:g.56336882T>C-
NM_001374736.1(DST):c.22131C>T (p.Leu7377=)667DSTLikely benign-1RCV002131010; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563368845633688456336884-
NM_001374736.1(DST):c.22121G>A (p.Arg7374Lys)667DSTUncertain significancers2094926732RCV001240992; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656336894563368946:g.56336894C>T-
NM_001374736.1(DST):c.22119A>G (p.Arg7373_Arg7374=)667DSTBenignrs192453671RCV000979598; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656336896563368966:g.56336896T>C-
NM_001374736.1(DST):c.22110G>A (p.Ala7370=)667DSTLikely benign-1RCV002127064; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563369055633690556336905-
NM_001374736.1(DST):c.22069A>G (p.Asn7357Asp)667DSTUncertain significancers2094927912RCV001323012; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563369465633694656336946-
NM_001374736.1(DST):c.22060C>T (p.Pro7354Ser)667DSTUncertain significance-1RCV001507668|RCV002564211; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563369555633695556336955-
NM_001374736.1(DST):c.22057A>G (p.Asn7353Asp)667DSTUncertain significancers371310558RCV001242501|RCV002402768; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656336958563369586:g.56336958T>C-
NM_001374736.1(DST):c.22016G>C (p.Ser7339Thr)667DSTUncertain significance-1RCV002039786; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563369995633699956336999-
NM_001374736.1(DST):c.22005_22006insAT (p.Pro7336fs)667DSTPathogenicrs2094929531RCV001245997; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656337009563370106:g.56337009_56337010insAT-
NM_001374736.1(DST):c.22000C>T (p.Arg7334Cys)667DSTUncertain significancers769938845RCV001248117; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656337015563370156:g.56337015G>A-
NM_001374736.1(DST):c.21999A>C (p.Lys7333Asn)667DSTUncertain significance-1RCV001973244; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563370165633701656337016-
NM_001374736.1(DST):c.21995-9C>A667DSTUncertain significance-1RCV003031991; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633702956337029NC_000006.11:g.56337029G>T-
NM_001374736.1(DST):c.21995-10A>G667DSTLikely benign-1RCV003090595; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633703056337030NC_000006.11:g.56337030T>C-
NM_001374736.1(DST):c.21995-18G>C667DSTBenign/Likely benign-1RCV002118115|RCV002243522; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN5172026563370385633703856337038-
NM_001374736.1(DST):c.21995-18G>A667DSTBenign-1RCV002122467; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563370385633703856337038-
NM_001374736.1(DST):c.21995-19C>T667DSTUncertain significance-1RCV003071584; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633703956337039NC_000006.11:g.56337039G>A-
NM_001374736.1(DST):c.21994+13C>T667DSTUncertain significance-1RCV003077796; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633865856338658NC_000006.11:g.56338658G>A-
NM_001374736.1(DST):c.21992G>A (p.Gly7331Glu)667DSTUncertain significancers781156041RCV001240219; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656338673563386736:g.56338673C>T-
NM_001374736.1(DST):c.21985C>T (p.Arg7329Ter)667DSTPathogenic-1RCV001994750|RCV002398009; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563386805633868056338680-
NM_001374736.1(DST):c.21972C>T (p.Val7324=)667DSTLikely benign-1RCV001411957; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563386935633869356338693-
NM_001374736.1(DST):c.21967C>A (p.Pro7323Thr)667DSTUncertain significance-1RCV003060964; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633869856338698NC_000006.11:g.56338698G>T-
NM_001374736.1(DST):c.21955C>G (p.Gln7319Glu)667DSTUncertain significancers749377991RCV001239660; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656338710563387106:g.56338710G>C-
NM_001374736.1(DST):c.21951A>G (p.Ser7317_Leu7318=)667DSTLikely benignrs1306326928RCV000982789|RCV001505084; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656338714563387146:g.56338714T>C-
NM_001374736.1(DST):c.21943C>T (p.Pro7315Ser)667DSTUncertain significance-1RCV001927551; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563387225633872256338722-
NM_001374736.1(DST):c.21915G>A (p.Thr7305=)667DSTLikely benign-1RCV001487210; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563387505633875056338750-
NM_001374736.1(DST):c.21910G>A (p.Val7304Ile)667DSTUncertain significance-1RCV002933828; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165633875556338755NC_000006.11:g.56338755C>T-
NM_001374736.1(DST):c.21898G>A (p.Asp7300Asn)667DSTUncertain significance-1RCV003078449; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633876756338767NC_000006.11:g.56338767C>T-
NM_001374736.1(DST):c.21890A>G (p.Lys7297Arg)667DSTUncertain significance-1RCV002725416; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633877556338775NC_000006.11:g.56338775T>C-
NM_001374736.1(DST):c.21885C>T (p.Thr7295=)667DSTLikely benign-1RCV001496768; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563387805633878056338780-
NM_001374736.1(DST):c.21875A>T (p.Glu7292Val)667DSTUncertain significance-1RCV002047870; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563387905633879056338790-
NM_001374736.1(DST):c.21865-15T>A667DSTUncertain significance-1RCV003069986; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165633881556338815NC_000006.11:g.56338815A>T-
NM_001374736.1(DST):c.21865-20C>T667DSTLikely benign-1RCV002105259; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563388205633882056338820-
NM_001374736.1(DST):c.21864+14_21864+16del667DSTUncertain significance-1RCV002880975; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634093156340933NC_000006.11:g.56340933_56340935del-
NM_001374736.1(DST):c.21864+13T>A667DSTLikely benign-1RCV002156608; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563409345634093456340934-
NM_001374736.1(DST):c.21864+13T>C667DSTUncertain significance-1RCV003067318; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634093456340934NC_000006.11:g.56340934A>G-
NC_000006.11:g.(?_56340937)_(56342296_?)del667DSTUncertain significance-1RCV001916462; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634093756342296-1-
NM_001374736.1(DST):c.21864+7T>C667DSTLikely benign-1RCV001426327; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563409405634094056340940-
NM_001374736.1(DST):c.21862C>T (p.Gln7288Ter)667DSTPathogenic-1RCV001895286; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563409495634094956340949-
NM_001374736.1(DST):c.21861C>T (p.His7287_Gln7288=)667DSTLikely benign-1RCV003014603; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634095056340950NC_000006.11:g.56340950G>A-
NM_001374736.1(DST):c.21858A>G (p.Glu7286=)667DSTLikely benign-1RCV002213296; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563409535634095356340953-
NM_001374736.1(DST):c.21832G>A (p.Glu7278Lys)667DSTUncertain significancers751149116RCV001313676; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563409795634097956340979-
NM_001374736.1(DST):c.21830T>C (p.Ile7277Thr)667DSTUncertain significance-1RCV001912413; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563409815634098156340981-
NM_001374736.1(DST):c.21824A>C (p.Gln7275Pro)667DSTUncertain significancers2095181390RCV001317820; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563409875634098756340987-
NM_001374736.1(DST):c.21821C>G (p.Pro7274Arg)667DSTUncertain significancers1250221052RCV001245433; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656340990563409906:g.56340990G>C-
NM_001374736.1(DST):c.21817A>G (p.Ile7273Val)667DSTUncertain significance-1RCV002715529; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634099456340994NC_000006.11:g.56340994T>C-
NM_001374736.1(DST):c.21814G>A (p.Val7272Ile)667DSTUncertain significancers767613702RCV001240068; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656340997563409976:g.56340997C>T-
NM_001374736.1(DST):c.21814G>C (p.Val7272Leu)667DSTUncertain significance-1RCV001955059; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563409975634099756340997-
NM_001374736.1(DST):c.21811G>A (p.Glu7271Lys)667DSTUncertain significance-1RCV002731203; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634100056341000NC_000006.11:g.56341000C>T-
NM_001374736.1(DST):c.21793C>T (p.Leu7265Phe)667DSTUncertain significancers1757751702RCV001345203; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563410185634101856341018-
NM_001374736.1(DST):c.21756del (p.Ala7253fs)667DSTPathogenicrs398122819RCV000024316|RCV001552535; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656341055563410556:g.56341055_56341055delClinGen:CA281107,OMIM:113810.0001C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.21733A>G (p.Ile7245Val)667DSTUncertain significancers2095184213RCV001245859; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656341078563410786:g.56341078T>C-
NM_001374736.1(DST):c.21724G>T (p.Ala7242Ser)667DSTUncertain significance-1RCV001937410; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563410875634108756341087-
NM_001374736.1(DST):c.21717T>C (p.Ser7239=)667DSTLikely benign-1RCV002194344; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563410945634109456341094-
NM_001374736.1(DST):c.21702G>A (p.Gln7234_Gln7235=)667DSTUncertain significance-1RCV002650090; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634110956341109NC_000006.11:g.56341109C>T-
NM_001374736.1(DST):c.21689C>T (p.Ala7230Val)667DSTUncertain significance-1RCV001363799|RCV002404861; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563411225634112256341122-
NM_001374736.1(DST):c.21678G>A (p.Val7226=)667DSTUncertain significance-1RCV001364675; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563411335634113356341133-
NM_001374736.1(DST):c.21676G>A (p.Val7226Met)667DSTUncertain significance-1RCV003002916; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634113556341135NC_000006.11:g.56341135C>T-
NM_001374736.1(DST):c.21676-6T>C667DSTLikely benign-1RCV002192367; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563411415634114156341141-
NM_001374736.1(DST):c.21676-9C>T667DSTLikely benign-1RCV001411469; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563411445634114456341144-
NM_001374736.1(DST):c.21676-15_21676-14del667DSTBenign-1RCV001699837|RCV002073261; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563411495634115056341148-
NM_001374736.1(DST):c.21676-17T>A667DSTUncertain significance-1RCV002761187; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634115256341152NC_000006.11:g.56341152A>T-
NM_001374736.1(DST):c.21675+10T>A667DSTLikely benign-1RCV001438795; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563421335634213356342133-
NM_001374736.1(DST):c.21675+7G>A667DSTBenign/Likely benign-1RCV001514391|RCV001732197; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN5172026563421365634213656342136-
NM_001374736.1(DST):c.21675+4A>G667DSTUncertain significancers2095243185RCV001243704; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656342139563421396:g.56342139T>C-
NM_001374736.1(DST):c.21662C>T (p.Ala7221Val)667DSTUncertain significancers376556021RCV001246191|RCV002402784; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656342156563421566:g.56342156G>A-
NM_001374736.1(DST):c.21659G>A (p.Arg7220Gln)667DSTUncertain significancers765541556RCV001296137; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563421595634215956342159-
NM_001374736.1(DST):c.21658C>T (p.Arg7220Trp)667DSTUncertain significance-1RCV001926883|RCV002397925; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236563421605634216056342160-
NM_001374736.1(DST):c.21636T>G (p.Ile7212Met)667DSTUncertain significance-1RCV002012961; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563421825634218256342182-
NM_001374736.1(DST):c.21631A>G (p.Thr7211Ala)667DSTUncertain significancers2095244412RCV001247636; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656342187563421876:g.56342187T>C-
NM_001374736.1(DST):c.21627C>G (p.Ile7209Met)667DSTUncertain significancers2095244497RCV001247775; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656342191563421916:g.56342191G>C-
NM_001374736.1(DST):c.21626T>C (p.Ile7209Thr)667DSTUncertain significance-1RCV002013253; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563421925634219256342192-
NM_001374736.1(DST):c.21625A>G (p.Ile7209Val)667DSTUncertain significance-1RCV002815270; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634219356342193NC_000006.11:g.56342193T>C-
NM_001374736.1(DST):c.21618C>T (p.Pro7206=)667DSTLikely benign-1RCV001481018; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563422005634220056342200-
NM_001374736.1(DST):c.21618C>G (p.Pro7206=)667DSTLikely benign-1RCV002103249; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563422005634220056342200-
NM_001374736.1(DST):c.21598G>A (p.Val7200Ile)667DSTUncertain significancers760700573RCV001241530|RCV002393624; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656342220563422206:g.56342220C>T-
NM_001374736.1(DST):c.21598G>T (p.Val7200Phe)667DSTUncertain significance-1RCV003067913; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634222056342220NC_000006.11:g.56342220C>A-
NM_001374736.1(DST):c.21597C>T (p.Thr7199_Val7200=)667DSTUncertain significance-1RCV003067064; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634222156342221NC_000006.11:g.56342221G>A-
NM_001374736.1(DST):c.21595A>G (p.Thr7199Ala)667DSTUncertain significancers2095245434RCV001240922; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656342223563422236:g.56342223T>C-
NM_001374736.1(DST):c.21592G>A (p.Asp7198Asn)667DSTUncertain significance-1RCV003063244; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634222656342226NC_000006.11:g.56342226C>T-
NM_001374736.1(DST):c.21591C>T (p.Gly7197=)667DSTLikely benign-1RCV001465458; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563422275634222756342227-
NM_001374736.1(DST):c.21584C>T (p.Thr7195Ile)667DSTUncertain significance-1RCV002631876; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634223456342234NC_000006.11:g.56342234G>A-
NM_001374736.1(DST):c.21572A>G (p.Asn7191Ser)667DSTUncertain significancers1310432337RCV001308011; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563422465634224656342246-
NM_001374736.1(DST):c.21570A>G (p.Leu7190=)667DSTLikely benign-1RCV001414282; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563422485634224856342248-
NM_001374736.1(DST):c.21560G>T (p.Arg7187Ile)667DSTUncertain significance-1RCV002635396; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634225856342258NC_000006.11:g.56342258C>A-
NM_001374736.1(DST):c.21538A>G (p.Met7180Val)667DSTConflicting interpretations of pathogenicityrs200006386RCV001311719|RCV001400269|RCV002395661; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563422805634228056342280-
NM_001374736.1(DST):c.21532-12T>C667DSTUncertain significance-1RCV002853004; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634229856342298NC_000006.11:g.56342298A>G-
NM_001374736.1(DST):c.21531+11T>C667DSTLikely benign-1RCV002188154; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563468375634683756346837-
NM_001374736.1(DST):c.21529A>G (p.Lys7177Glu)667DSTUncertain significance-1RCV001368426; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563468505634685056346850-
NM_001374736.1(DST):c.21518T>C (p.Ile7173Thr)667DSTUncertain significance-1RCV001889366; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563468615634686156346861-
NM_001374736.1(DST):c.21514C>G (p.Leu7172Val)667DSTUncertain significancers1461679972RCV001308419; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563468655634686556346865-
NM_001374736.1(DST):c.21510G>A (p.Arg7170=)667DSTLikely benign-1RCV002210662; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563468695634686956346869-
NM_001374736.1(DST):c.21509G>A (p.Arg7170Gln)667DSTUncertain significancers201690182RCV001243563|RCV002393634; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656346870563468706:g.56346870C>T-
NM_001374736.1(DST):c.21503C>G (p.Ala7168Gly)667DSTUncertain significancers201982383RCV001245367|RCV002393649; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656346876563468766:g.56346876G>C-
NM_001374736.1(DST):c.21500A>G (p.Asp7167Gly)667DSTUncertain significancers1562272106RCV001248734; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656346879563468796:g.56346879T>C-
NM_001374736.1(DST):c.21470G>A (p.Arg7157His)667DSTUncertain significancers576138885RCV001244815|RCV002393647; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656346909563469096:g.56346909C>T-
NM_001374736.1(DST):c.21465_21466insTT (p.Leu7156fs)667DSTPathogenic-1RCV003024681; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634691356346914NC_000006.11:g.56346913_56346914insAA-
NM_001374736.1(DST):c.21463A>T (p.Thr7155Ser)667DSTUncertain significance-1RCV002615057; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634691656346916NC_000006.11:g.56346916T>A-
NM_001374736.1(DST):c.21456G>A (p.Ala7152=)667DSTLikely benign-1RCV001483480; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563469235634692356346923-
NM_001374736.1(DST):c.21455C>T (p.Ala7152Val)667DSTUncertain significance-1RCV001373385; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563469245634692456346924-
NM_001374736.1(DST):c.21454G>A (p.Ala7152Thr)667DSTUncertain significance-1RCV003110763; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634692556346925NC_000006.11:g.56346925C>T-
NM_001374736.1(DST):c.21448G>T (p.Ala7150Ser)667DSTUncertain significancers1393774391RCV000821659; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656346931563469316:g.56346931C>A-
NM_001374736.1(DST):c.21443G>A (p.Trp7148Ter)667DSTPathogenic-1RCV003063832; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634693656346936NC_000006.11:g.56346936C>T-
NM_001374736.1(DST):c.21423G>A (p.Val7141_Val7142=)667DSTBenignrs201115435RCV000979040; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656346956563469566:g.56346956C>T-
NM_001374736.1(DST):c.21421G>T (p.Val7141Leu)667DSTUncertain significance-1RCV001887612; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563469585634695856346958-
NM_001374736.1(DST):c.21420G>A (p.Ser7140=)667DSTLikely benign-1RCV001436430; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563469595634695956346959-
NM_001374736.1(DST):c.21419C>T (p.Ser7140Leu)667DSTUncertain significance-1RCV001364018; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563469605634696056346960-
NM_001374736.1(DST):c.21408G>C (p.Glu7136Asp)667DSTUncertain significance-1RCV001935037; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563469715634697156346971-
NM_001374736.1(DST):c.21403-1G>A667DSTLikely pathogenic-1RCV002862584; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634697756346977NC_000006.11:g.56346977C>T-
NM_001374736.1(DST):c.21403-23TG[8]667DSTLikely benignrs144810945RCV000980184|RCV001700683; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656346985563469866:g.56346985_56346986insCA-
NM_001374736.1(DST):c.21403-23TG[17]667DSTLikely benign-1RCV001423009; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563469855634698656346985-
NM_001374736.1(DST):c.21403-23TG[16]667DSTLikely benign-1RCV001463627; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563469855634698656346985-
NM_001374736.1(DST):c.21403-23TG[20]667DSTLikely benign-1RCV001472929; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563469855634698656346985-
NM_001374736.1(DST):c.21403-23TG[21]667DSTLikely benign-1RCV001501064; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563469855634698656346985-
NM_001374736.1(DST):c.21403-23TG[18]667DSTBenign-1RCV001514455; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563469855634698656346985-
NM_001374736.1(DST):c.21403-23TG[19]667DSTBenign/Likely benign-1RCV001510455|RCV001732193; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN5172026563469855634698656346985-
NM_001374736.1(DST):c.21403-23TG[6]667DSTBenign-1RCV002122650; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563469865634698756346985-
NM_001374736.1(DST):c.21402+12G>C667DSTLikely benign-1RCV002208324; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563474695634746956347469-
NM_001374736.1(DST):c.21398G>A (p.Arg7133His)667DSTUncertain significance-1RCV002004605; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563474855634748556347485-
NM_001374736.1(DST):c.21397C>T (p.Arg7133Cys)667DSTUncertain significancers1465520965RCV001247972; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656347486563474866:g.56347486G>A-
NM_001374736.1(DST):c.21379C>T (p.Arg7127Trp)667DSTUncertain significance-1RCV001365517; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563475045634750456347504-
NM_001374736.1(DST):c.21364A>G (p.Ile7122Val)667DSTUncertain significancers201703299RCV001243168|RCV002393632; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656347519563475196:g.56347519T>C-
NM_001374736.1(DST):c.21349G>A (p.Val7117Met)667DSTUncertain significance-1RCV001951970; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563475345634753456347534-
NM_001374736.1(DST):c.21348C>T (p.Thr7116=)667DSTLikely benign-1RCV001410053; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563475355634753556347535-
NM_001374736.1(DST):c.21347C>G (p.Thr7116Ser)667DSTUncertain significance-1RCV001929298; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563475365634753656347536-
NM_001374736.1(DST):c.21338G>A (p.Arg7113His)667DSTUncertain significance-1RCV001992873; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563475455634754556347545-
NM_001374736.1(DST):c.21337C>T (p.Arg7113Cys)667DSTUncertain significance-1RCV001987865|RCV002388916; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563475465634754656347546-
NM_001374736.1(DST):c.21327A>G (p.Glu7109=)667DSTLikely benign-1RCV002213438; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563475565634755656347556-
NM_001374736.1(DST):c.21324G>A (p.Gln7108=)667DSTLikely benign-1RCV001459647; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563475595634755956347559-
NM_001374736.1(DST):c.21310A>G (p.Lys7104Glu)667DSTUncertain significance-1RCV002006414; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563475735634757356347573-
NM_001374736.1(DST):c.21293A>T (p.Asp7098Val)667DSTUncertain significance-1RCV002611785; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165634759056347590NC_000006.11:g.56347590T>A-
NM_001374736.1(DST):c.21290G>A (p.Arg7097Gln)667DSTUncertain significancers372651269RCV001243633|RCV002393638; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656347593563475936:g.56347593C>T-
NM_001374736.1(DST):c.21289C>T (p.Arg7097Trp)667DSTUncertain significancers752231990RCV001343637|RCV001507669; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN5172026563475945634759456347594-
NM_001374736.1(DST):c.21288T>A (p.Ser7096Arg)667DSTUncertain significancers2095442394RCV001244752; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656347595563475956:g.56347595A>T-
NM_001374736.1(DST):c.21269G>A (p.Arg7090Gln)667DSTUncertain significance-1RCV001954811|RCV002388854; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236563476145634761456347614-
NM_001374736.1(DST):c.21268C>G (p.Arg7090Gly)667DSTUncertain significancers753400637RCV001239859; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656347615563476156:g.56347615G>C-
NM_001374736.1(DST):c.21260G>A (p.Arg7087His)667DSTUncertain significancers199548754RCV001240341|RCV002393617; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656347623563476236:g.56347623C>T-
NM_001374736.1(DST):c.21259C>T (p.Arg7087Cys)667DSTUncertain significance-1RCV002388851|RCV001945695; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563476245634762456347624-
NM_001374736.1(DST):c.21243T>A (p.Ser7081Arg)667DSTUncertain significancers779915352RCV001241868; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656347640563476406:g.56347640A>T-
NM_001374736.1(DST):c.21243T>C (p.Ser7081=)667DSTLikely benign-1RCV002152383; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563476405634764056347640-
NM_001374736.1(DST):c.21237C>T (p.Thr7079=)667DSTLikely benign-1RCV001437334; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563476465634764656347646-
NM_001374736.1(DST):c.21234G>A (p.Arg7078=)667DSTLikely benign-1RCV002146162; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563476495634764956347649-
NM_001374736.1(DST):c.21233_21234insTTGGG (p.Arg7078fs)667DSTPathogenic-1RCV003048247; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165634764956347650NC_000006.11:g.56347650_56347651insCCAAC-
NM_001374736.1(DST):c.21231G>A (p.Lys7077=)667DSTLikely benign-1RCV001422117; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563476525634765256347652-
NM_001374736.1(DST):c.21208-2A>T667DSTLikely pathogenic-1RCV001961435; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563476775634767756347677-
NM_001374736.1(DST):c.21204C>T (p.His7068=)667DSTLikely benign-1RCV001481202; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563501135635011356350113-
NM_001374736.1(DST):c.21195C>A (p.Ile7065=)667DSTUncertain significancers759930255RCV001338339; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563501225635012256350122-
NM_001374736.1(DST):c.21195C>T (p.Ile7065_Asp7066=)667DSTLikely benign-1RCV003070249; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635012256350122NC_000006.11:g.56350122G>A-
NM_001374736.1(DST):c.21187A>G (p.Asn7063Asp)667DSTUncertain significancers2095526396RCV001245996; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656350130563501306:g.56350130T>C-
NM_001374736.1(DST):c.21183G>T (p.Val7061=)667DSTLikely benign-1RCV001480716; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563501345635013456350134-
NM_001374736.1(DST):c.21181G>A (p.Val7061Met)667DSTUncertain significancers1308825083RCV001247057; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656350136563501366:g.56350136C>T-
NM_001374736.1(DST):c.21178T>C (p.Leu7060=)667DSTLikely benign-1RCV001405655; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563501395635013956350139-
NM_001374736.1(DST):c.21153C>A (p.Asp7051Glu)667DSTUncertain significance-1RCV001368160; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563501645635016456350164-
NM_001374736.1(DST):c.21141G>A (p.Gln7047=)667DSTLikely benign-1RCV001477870; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563501765635017656350176-
NM_001374736.1(DST):c.21102A>G (p.Leu7034=)667DSTLikely benign-1RCV002113015; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563502155635021556350215-
NM_001374736.1(DST):c.21100C>T (p.Leu7034=)667DSTLikely benign-1RCV001441376; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563502175635021756350217-
NM_001374736.1(DST):c.21080C>G (p.Ser7027Cys)667DSTUncertain significance-1RCV002941892; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635023756350237NC_000006.11:g.56350237G>C-
NM_001374736.1(DST):c.21048-1G>T667DSTLikely pathogenic-1RCV001378330; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563502705635027056350270-
NM_001374736.1(DST):c.21048-4C>G667DSTLikely benign-1RCV001467673; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563502735635027356350273-
NM_001374736.1(DST):c.21048-5C>T667DSTLikely benign-1RCV001483481; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563502745635027456350274-
NM_001374736.1(DST):c.21048-14A>G667DSTLikely benign-1RCV002606541; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635028356350283NC_000006.11:g.56350283T>C-
NM_001374736.1(DST):c.21047+9T>A667DSTLikely benign-1RCV001393798; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563518935635189356351893-
NM_001374736.1(DST):c.21015A>G (p.Lys7005=)667DSTUncertain significance-1RCV002030168; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563519345635193456351934-
NM_001374736.1(DST):c.21011A>C (p.Asp7004Ala)667DSTUncertain significance-1RCV001914180; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563519385635193856351938-
NM_001374736.1(DST):c.21001G>C (p.Glu7001Gln)667DSTUncertain significancers555055845RCV001248591; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656351948563519486:g.56351948C>G-
NM_001374736.1(DST):c.20999G>C (p.Ser7000Thr)667DSTUncertain significance-1RCV002586873; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635195056351950NC_000006.11:g.56351950C>G-
NM_001374736.1(DST):c.20997G>A (p.Leu6999_Ser7000=)667DSTBenign/Likely benignrs187652380RCV000625437|RCV000979000|RCV001701418|RCV001785683|RCV002395637; NMONDO: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:CN169374|MedGen:CN517202|MeSH:D030342,MedGen:C0950123656351952563519526:g.56351952C>TClinGen:CA3866608C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.20993T>C (p.Met6998Thr)667DSTUncertain significance-1RCV002021843; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563519565635195656351956-
NM_001374736.1(DST):c.20988T>A (p.Asp6996Glu)667DSTUncertain significance-1RCV001912301; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563519615635196156351961-
NM_001374736.1(DST):c.20981A>G (p.Lys6994Arg)667DSTUncertain significancers747140695RCV001243634; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656351968563519686:g.56351968T>C-
NM_001374736.1(DST):c.20977C>G (p.Leu6993Val)667DSTBenign-1RCV001517025|RCV001685392; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN5172026563519725635197256351972-
NM_001374736.1(DST):c.20976C>T (p.Asn6992_Leu6993=)667DSTBenign/Likely benignrs199658821RCV000979024|RCV001311720; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656351973563519736:g.56351973G>A-
NM_001374736.1(DST):c.20976C>A (p.Asn6992Lys)667DSTUncertain significance-1RCV001867749; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563519735635197356351973-
NM_001374736.1(DST):c.20975A>G (p.Asn6992Ser)667DSTUncertain significancers780386919RCV000805306; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656351974563519746:g.56351974T>C-
NM_001374736.1(DST):c.20971G>A (p.Asp6991Asn)667DSTUncertain significance-1RCV002031854; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563519785635197856351978-
NM_001374736.1(DST):c.20969A>C (p.Asp6990Ala)667DSTUncertain significancers2095597405RCV001246857; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656351980563519806:g.56351980T>G-
NM_001374736.1(DST):c.20963T>G (p.Leu6988Arg)667DSTUncertain significancers769301413RCV001244614; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656351986563519866:g.56351986A>C-
NM_001374736.1(DST):c.20937A>G (p.Gly6979=)667DSTLikely benign-1RCV002093319; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563520125635201256352012-
NM_001374736.1(DST):c.20924C>T (p.Thr6975Ile)667DSTUncertain significancers775114465RCV001244613; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656352025563520256:g.56352025G>A-
NM_001374736.1(DST):c.20923A>G (p.Thr6975Ala)667DSTUncertain significancers2095598634RCV001343514; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563520265635202656352026-
NM_001374736.1(DST):c.20904G>T (p.Lys6968Asn)667DSTUncertain significancers373333745RCV001244417; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656352045563520456:g.56352045C>A-
NM_001374736.1(DST):c.20895C>T (p.Leu6965=)667DSTLikely benign-1RCV001506338; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563520545635205456352054-
NM_001374736.1(DST):c.20890T>G (p.Ser6964Ala)667DSTUncertain significance-1RCV003085063; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635205956352059NC_000006.11:g.56352059A>C-
NM_001374736.1(DST):c.20878-3T>C667DSTUncertain significancers961527038RCV001245720; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656352074563520746:g.56352074A>G-
NM_001374736.1(DST):c.20878-8dup667DSTUncertain significance-1RCV001954870; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563520785635207956352078-
NM_001374736.1(DST):c.20877+9A>G667DSTUncertain significance-1RCV002647076; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635427956354279NC_000006.11:g.56354279T>C-
NM_001374736.1(DST):c.20871A>G (p.Gln6957_His6958=)667DSTBenignrs572477548RCV000982023; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656354294563542946:g.56354294T>C-
NM_001374736.1(DST):c.20847C>T (p.Asp6949=)667DSTLikely benign-1RCV001492091; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563543185635431856354318-
NM_001374736.1(DST):c.20836A>T (p.Asn6946Tyr)667DSTUncertain significancers910349740RCV001241253; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656354329563543296:g.56354329T>A-
NM_001374736.1(DST):c.20834C>T (p.Ala6945Val)667DSTUncertain significancers2095669121RCV001241452; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656354331563543316:g.56354331G>A-
NM_001374736.1(DST):c.20825T>C (p.Leu6942Pro)667DSTUncertain significance-1RCV001875676; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563543405635434056354340-
NM_001374736.1(DST):c.20785G>C (p.Glu6929Gln)667DSTUncertain significance-1RCV002770998; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635438056354380NC_000006.11:g.56354380C>G-
NM_001374736.1(DST):c.20783T>C (p.Met6928Thr)667DSTUncertain significancers763176568RCV001243096; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656354382563543826:g.56354382A>G-
NM_001374736.1(DST):c.20783T>A (p.Met6928Lys)667DSTUncertain significance-1RCV001939862; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563543825635438256354382-
NM_001374736.1(DST):c.20767G>A (p.Ala6923Thr)667DSTUncertain significancers767948298RCV001319143|RCV002395689; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236563543985635439856354398-
NM_001374736.1(DST):c.20762A>G (p.His6921Arg)667DSTUncertain significance-1RCV002016536; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563544035635440356354403-
NM_001374736.1(DST):c.20761C>T (p.His6921Tyr)667DSTUncertain significancers2095670422RCV001309635; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563544045635440456354404-
NM_001374736.1(DST):c.20760C>G (p.Phe6920Leu)667DSTUncertain significancers374056754RCV001242693; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656354405563544056:g.56354405G>C-
NM_001374736.1(DST):c.20758-4C>G667DSTUncertain significance-1RCV002572060; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635441156354411NC_000006.11:g.56354411G>C-
NM_001374736.1(DST):c.20757+12T>G667DSTUncertain significance-1RCV002898811; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635701356357013NC_000006.11:g.56357013A>C-
NM_001374736.1(DST):c.20757+1G>A667DSTLikely pathogenic-1RCV001379738; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563570245635702456357024-
NM_001374736.1(DST):c.20757G>A (p.Gln6919_Phe6920=)667DSTUncertain significance-1RCV003067431; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635702556357025NC_000006.11:g.56357025C>T-
NM_001374736.1(DST):c.20756A>G (p.Gln6919Arg)667DSTUncertain significancers771106035RCV001243095; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656357026563570266:g.56357026T>C-
NM_001374736.1(DST):c.20753A>T (p.Lys6918Met)667DSTUncertain significance-1RCV003082123; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635702956357029NC_000006.11:g.56357029T>A-
NM_001374736.1(DST):c.20745G>C (p.Lys6915Asn)667DSTUncertain significance-1RCV003068571; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635703756357037NC_000006.11:g.56357037C>G-
NM_001374736.1(DST):c.20726C>A (p.Ser6909Tyr)667DSTUncertain significancers371015718RCV001339296; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563570565635705656357056-
NM_001374736.1(DST):c.20722A>G (p.Arg6908Gly)667DSTUncertain significance-1RCV002039021; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563570605635706056357060-
NM_001374736.1(DST):c.20719G>A (p.Gly6907Arg)667DSTUncertain significance-1RCV002820447; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635706356357063NC_000006.11:g.56357063C>T-
NM_001374736.1(DST):c.20719G>C (p.Gly6907Arg)667DSTUncertain significance-1RCV002837514; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635706356357063NC_000006.11:g.56357063C>G-
NM_001374736.1(DST):c.20718A>T (p.Arg6906Ser)667DSTUncertain significancers936474152RCV000795797; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656357064563570646:g.56357064T>A-
NM_001374736.1(DST):c.20709G>A (p.Leu6903=)667DSTUncertain significancers764552655RCV001308244; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563570735635707356357073-
NM_001374736.1(DST):c.20705G>A (p.Arg6902Gln)667DSTUncertain significancers754316339RCV001246800; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656357077563570776:g.56357077C>T-
NM_001374736.1(DST):c.20704C>T (p.Arg6902Trp)667DSTUncertain significance-1RCV003086594; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635707856357078NC_000006.11:g.56357078G>A-
NM_001374736.1(DST):c.20704C>A (p.Arg6902_Leu6903=)667DSTUncertain significance-1RCV002765420; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635707856357078NC_000006.11:g.56357078G>T-
NM_001374736.1(DST):c.20698G>T (p.Val6900Phe)667DSTUncertain significance-1RCV001924222; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563570845635708456357084-
NM_001374736.1(DST):c.20684G>T (p.Arg6895Leu)667DSTUncertain significancers371273718RCV001339277|RCV002395740; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563570985635709856357098-
NM_001374736.1(DST):c.20684G>A (p.Arg6895Gln)667DSTUncertain significancers371273718RCV001341014; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563570985635709856357098-
NM_001374736.1(DST):c.20674G>A (p.Val6892Ile)667DSTUncertain significance-1RCV002634800; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635710856357108NC_000006.11:g.56357108C>T-
NM_001374736.1(DST):c.20659A>G (p.Asn6887Asp)667DSTUncertain significancers2095777312RCV001241251; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656357123563571236:g.56357123T>C-
NM_001374736.1(DST):c.20658G>A (p.Lys6886_Asn6887=)667DSTUncertain significance-1RCV002722105; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635712456357124NC_000006.11:g.56357124C>T-
NM_001374736.1(DST):c.20622A>C (p.Lys6874Asn)667DSTUncertain significance-1RCV003014594; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635716056357160NC_000006.11:g.56357160T>G-
NM_001374736.1(DST):c.20612C>T (p.Thr6871Ile)667DSTUncertain significancers2095778341RCV001240343; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656357170563571706:g.56357170G>A-
NM_001374736.1(DST):c.20606C>T (p.Thr6869Ile)667DSTUncertain significance-1RCV001982684; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563571765635717656357176-
NM_001374736.1(DST):c.20596C>T (p.Leu6866=)667DSTLikely benign-1RCV002177565; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563571865635718656357186-
NM_001374736.1(DST):c.20593G>C (p.Glu6865Gln)667DSTUncertain significance-1RCV002004002; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563571895635718956357189-
NM_001374736.1(DST):c.20578C>T (p.Arg6860Cys)667DSTUncertain significancers769340564RCV000823541; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656357204563572046:g.56357204G>A-
NM_001374736.1(DST):c.20576A>T (p.His6859Leu)667DSTUncertain significance-1RCV002576337; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635720656357206NC_000006.11:g.56357206T>A-
NM_001374736.1(DST):c.20561A>G (p.Asn6854Ser)667DSTUncertain significancers372049401RCV000797123|RCV002388447; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656357221563572216:g.56357221T>C-
NM_001374736.1(DST):c.20560A>C (p.Asn6854His)667DSTUncertain significance-1RCV001365519|RCV002395824; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563572225635722256357222-
NM_001374736.1(DST):c.20559C>T (p.Ala6853=)667DSTLikely benign-1RCV001417742; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563572235635722356357223-
NM_001374736.1(DST):c.20551G>A (p.Val6851Ile)667DSTUncertain significance-1RCV002035754; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563572315635723156357231-
NM_001374736.1(DST):c.20551-3A>C667DSTUncertain significancers1192992788RCV001071469|RCV002393345; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656357234563572346:g.56357234T>G-
NM_001374736.1(DST):c.20551-16dup667DSTBenign-1RCV001510721; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563572405635724156357240-
NM_001374736.1(DST):c.20551-10T>C667DSTBenignrs191932729RCV000979023; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656357241563572416:g.56357241A>G-
NM_001374736.1(DST):c.20551-10del667DSTBenign-1RCV001514673; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563572415635724156357240-
NM_001374736.1(DST):c.20550+7A>G667DSTUncertain significance-1RCV002880553; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635772556357725NC_000006.11:g.56357725T>C-
NM_001374736.1(DST):c.20548A>G (p.Lys6850Glu)667DSTUncertain significance-1RCV001987538; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563577345635773456357734-
NM_001374736.1(DST):c.20542G>A (p.Glu6848Lys)667DSTUncertain significancers201305293RCV001245090|RCV002393648; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656357740563577406:g.56357740C>T-
NM_001374736.1(DST):c.20541C>T (p.Asp6847=)667DSTBenign-1RCV001514393; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563577415635774156357741-
NM_001374736.1(DST):c.20537T>C (p.Ile6846Thr)667DSTUncertain significancers762395369RCV001350784; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563577455635774556357745-
NM_001374736.1(DST):c.20524G>C (p.Val6842Leu)667DSTUncertain significance-1RCV001962445; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563577585635775856357758-
NM_001374736.1(DST):c.20511C>G (p.Leu6837=)667DSTLikely benign-1RCV001485923; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563577715635777156357771-
NM_001374736.1(DST):c.20511C>T (p.Leu6837_Ile6838=)667DSTLikely benign-1RCV002909649; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635777156357771NC_000006.11:g.56357771G>A-
NM_001374736.1(DST):c.20500C>T (p.Arg6834Trp)667DSTUncertain significance-1RCV002002668|RCV002511121; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN5172026563577825635778256357782-
NM_001374736.1(DST):c.20497T>C (p.Ser6833Pro)667DSTUncertain significance-1RCV002766258; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635778556357785NC_000006.11:g.56357785A>G-
NM_001374736.1(DST):c.20482A>G (p.Thr6828Ala)667DSTUncertain significance-1RCV002023629; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563578005635780056357800-
NM_001374736.1(DST):c.20451C>T (p.Asp6817=)667DSTLikely benign-1RCV001470824; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563578315635783156357831-
NM_001374736.1(DST):c.20446C>T (p.Gln6816Ter)667DSTPathogenicrs2095802050RCV001244420; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656357836563578366:g.56357836G>A-
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)667DSTConflicting interpretations of pathogenicityrs199628430RCV000625438|RCV000801103|RCV001529345|RCV002395638; NMONDO: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|MeSH:D030342,MedGen:C095012365635784456357844NC_000006.11:g.56357844T>CClinGen:CA3866746C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.20426T>C (p.Met6809Thr)667DSTUncertain significancers781336562RCV001242888; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656357856563578566:g.56357856A>G-
NM_001374736.1(DST):c.20412T>C (p.Ala6804=)667DSTLikely benign-1RCV001400710; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563578705635787056357870-
NM_001374736.1(DST):c.20398A>G (p.Lys6800Glu)667DSTUncertain significance-1RCV001929219; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563578845635788456357884-
NM_001374736.1(DST):c.20395-17A>C667DSTLikely benign-1RCV003091858; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165635790456357904NC_000006.11:g.56357904T>G-
NM_001374736.1(DST):c.20394+20_20394+24del667DSTUncertain significance-1RCV002033147; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563587845635878856358783-
NM_001374736.1(DST):c.20394+19A>G667DSTLikely benign-1RCV002076048; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563587895635878956358789-
NM_001374736.1(DST):c.20394+14T>C667DSTLikely benign-1RCV002156137; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563587945635879456358794-
NM_001374736.1(DST):c.20392A>G (p.Lys6798Glu)667DSTUncertain significancers560268832RCV001247834|RCV002393660; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656358810563588106:g.56358810T>C-
NM_001374736.1(DST):c.20384A>G (p.Asn6795Ser)667DSTUncertain significance-1RCV001952301|RCV002388839; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563588185635881856358818-
NM_001374736.1(DST):c.20382C>G (p.Leu6794=)667DSTLikely benign-1RCV002194382; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563588205635882056358820-
NM_001374736.1(DST):c.20367G>A (p.Ser6789=)667DSTLikely benign-1RCV001431539; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563588355635883556358835-
NM_001374736.1(DST):c.20366C>T (p.Ser6789Leu)667DSTUncertain significance-1RCV001894890; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563588365635883656358836-
NM_001374736.1(DST):c.20346C>T (p.Asn6782_Leu6783=)667DSTBenignrs200110251RCV000980179; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656358856563588566:g.56358856G>A-
NM_001374736.1(DST):c.20345A>C (p.Asn6782Thr)667DSTUncertain significancers764679996RCV001241065; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656358857563588576:g.56358857T>G-
NM_001374736.1(DST):c.20317G>A (p.Glu6773Lys)667DSTUncertain significance-1RCV001978826; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563588855635888556358885-
NM_001374736.1(DST):c.20303G>T (p.Cys6768Phe)667DSTUncertain significancers2095837433RCV001244543; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656358899563588996:g.56358899C>A-
NM_001374736.1(DST):c.20297C>T (p.Ala6766Val)667DSTUncertain significance-1RCV003025138; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635890556358905NC_000006.11:g.56358905G>A-
NM_001374736.1(DST):c.20283C>G (p.Gly6761=)667DSTLikely benign-1RCV001468551; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563589195635891956358919-
NM_001374736.1(DST):c.20282G>A (p.Gly6761Asp)667DSTUncertain significancers746273825RCV001294789; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563589205635892056358920-
NM_001374736.1(DST):c.20273T>C (p.Met6758Thr)667DSTUncertain significance-1RCV001363262; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563589295635892956358929-
NM_001374736.1(DST):c.20271G>A (p.Leu6757=)667DSTLikely benign-1RCV002181967; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563589315635893156358931-
NM_001374736.1(DST):c.20265G>A (p.Lys6755=)667DSTLikely benign-1RCV002153089; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563589375635893756358937-
NM_001374736.1(DST):c.20254G>T (p.Glu6752Ter)667DSTPathogenic-1RCV002000032; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563589485635894856358948-
NM_001374736.1(DST):c.20251G>A (p.Glu6751Lys)667DSTUncertain significance-1RCV002396601|RCV003095074; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563589515635895156358951-
NM_001374736.1(DST):c.20224-15G>A667DSTLikely benign-1RCV002116944; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563589935635899356358993-
NM_001374736.1(DST):c.20224-18G>C667DSTUncertain significance-1RCV003061363; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165635899656358996NC_000006.11:g.56358996C>G-
NM_001374736.1(DST):c.20223+20C>G667DSTLikely benign-1RCV002124390; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563621575636215756362157-
NM_001374736.1(DST):c.20223+7_20223+8dup667DSTLikely benign-1RCV001406540; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563621675636216856362167-
NM_001374736.1(DST):c.20213A>C (p.Asn6738Thr)667DSTUncertain significancers368434678RCV001345882; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563621875636218756362187-
NM_001374736.1(DST):c.20212A>G (p.Asn6738Asp)667DSTUncertain significance-1RCV002396501|RCV003103666; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563621885636218856362188-
NM_001374736.1(DST):c.20209C>G (p.Leu6737Val)667DSTUncertain significance-1RCV002044247; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563621915636219156362191-
NM_001374736.1(DST):c.20203G>A (p.Glu6735Lys)667DSTUncertain significance-1RCV001989329; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563621975636219756362197-
NM_001374736.1(DST):c.20201A>T (p.Lys6734Met)667DSTUncertain significancers2095955225RCV001242821; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656362199563621996:g.56362199T>A-
NM_001374736.1(DST):c.20190G>A (p.Pro6730=)667DSTLikely benign-1RCV002152855; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563622105636221056362210-
NM_001374736.1(DST):c.20189C>T (p.Pro6730Leu)667DSTUncertain significance-1RCV001991114; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563622115636221156362211-
NM_001374736.1(DST):c.20175G>A (p.Pro6725=)667DSTLikely benign-1RCV001447123; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563622255636222556362225-
NM_001374736.1(DST):c.20174C>T (p.Pro6725Leu)667DSTUncertain significancers372733281RCV001327019; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563622265636222656362226-
NM_001374736.1(DST):c.20153G>A (p.Arg6718His)667DSTBenign-1RCV001514459; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563622475636224756362247-
NM_001374736.1(DST):c.20148G>A (p.Thr6716=)667DSTLikely benign-1RCV002144262; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563622525636225256362252-
NM_001374736.1(DST):c.20147C>T (p.Thr6716Met)667DSTUncertain significance-1RCV001984648; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563622535636225356362253-
NM_001374736.1(DST):c.20119G>C (p.Glu6707Gln)667DSTUncertain significancers944605347RCV000800694; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656362281563622816:g.56362281C>G-
NM_001374736.1(DST):c.20117T>G (p.Ile6706Ser)667DSTUncertain significance-1RCV003063543; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636228356362283NC_000006.11:g.56362283A>C-
NM_001374736.1(DST):c.20113G>A (p.Glu6705Lys)667DSTUncertain significancers376734906RCV001242892|RCV002379932; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656362287563622876:g.56362287C>T-
NM_001374736.1(DST):c.20109T>C (p.His6703=)667DSTLikely benign-1RCV002197607; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563622915636229156362291-
NM_001374736.1(DST):c.20107C>T (p.His6703Tyr)667DSTUncertain significancers1464061736RCV001343161; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563622935636229356362293-
NM_001374736.1(DST):c.20106C>T (p.Phe6702=)667DSTLikely benign-1RCV002156126; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563622945636229456362294-
NM_001374736.1(DST):c.20097C>T (p.Ala6699=)667DSTBenign-1RCV001517143; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563623035636230356362303-
NM_001374736.1(DST):c.20095-18_20095-2dup667DSTUncertain significance-1RCV001955090; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563623065636230756362306-
NM_001374736.1(DST):c.20095-5T>A667DSTUncertain significancers1259182802RCV001306402; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563623105636231056362310-
NM_001374736.1(DST):c.20095-12C>T667DSTLikely benign-1RCV002083970; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563623175636231756362317-
NM_001374736.1(DST):c.20095-20A>G667DSTUncertain significance-1RCV003068643; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636232556362325NC_000006.11:g.56362325T>C-
NM_001374736.1(DST):c.20094+11G>A667DSTLikely benign-1RCV002215166; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563626435636264356362643-
NM_001374736.1(DST):c.20094G>C (p.Gln6698His)667DSTUncertain significancers2095975052RCV001245232; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656362654563626546:g.56362654C>G-
NM_001374736.1(DST):c.20090G>A (p.Arg6697His)667DSTUncertain significance-1RCV001872438; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563626585636265856362658-
NM_001374736.1(DST):c.20083G>A (p.Ala6695Thr)667DSTUncertain significance-1RCV001991296; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563626655636266556362665-
NM_001374736.1(DST):c.20064G>A (p.Arg6688=)667DSTLikely benign-1RCV001429735; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563626845636268456362684-
NM_001374736.1(DST):c.20053dup (p.Thr6685fs)667DSTPathogenicrs2095976276RCV001241388; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656362694563626956:g.56362694_56362695insT-
NM_001374736.1(DST):c.20049A>G (p.Glu6683=)667DSTLikely benign-1RCV001467672; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563626995636269956362699-
NM_001374736.1(DST):c.20039A>G (p.Asn6680Ser)667DSTUncertain significance-1RCV002643279; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636270956362709NC_000006.11:g.56362709T>C-
NM_001374736.1(DST):c.20030G>A (p.Arg6677His)667DSTUncertain significancers748356651RCV001239302; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656362718563627186:g.56362718C>T-
NM_001374736.1(DST):c.20029C>T (p.Arg6677Cys)667DSTUncertain significancers367862312RCV001246065|RCV002379942; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656362719563627196:g.56362719G>A-
NM_001374736.1(DST):c.20026C>A (p.Gln6676Lys)667DSTUncertain significance-1RCV001363708; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563627225636272256362722-
NM_001374736.1(DST):c.20024A>G (p.Asn6675Ser)667DSTUncertain significancers1282843908RCV001243636; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656362724563627246:g.56362724T>C-
NM_001374736.1(DST):c.20003A>G (p.Gln6668Arg)667DSTUncertain significance-1RCV001961409; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563627455636274556362745-
NM_001374736.1(DST):c.19984G>A (p.Glu6662Lys)667DSTUncertain significance-1RCV002030811; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563627645636276456362764-
NM_001374736.1(DST):c.19978G>T (p.Ala6660Ser)667DSTUncertain significance-1RCV001363873; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563627705636277056362770-
NM_001374736.1(DST):c.19971A>T (p.Glu6657Asp)667DSTUncertain significance-1RCV003067664; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636277756362777NC_000006.11:g.56362777T>A-
NM_001374736.1(DST):c.19967T>C (p.Ile6656Thr)667DSTUncertain significance-1RCV001918302|RCV002386705; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236563627815636278156362781-
NM_001374736.1(DST):c.19942G>A (p.Val6648Ile)667DSTUncertain significancers754970520RCV001345407|RCV002384475; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563628065636280656362806-
NM_001374736.1(DST):c.19941C>T (p.Ala6647=)667DSTLikely benign-1RCV001450812; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563628075636280756362807-
NM_001374736.1(DST):c.19941C>A (p.Ala6647=)667DSTLikely benign-1RCV002088447; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563628075636280756362807-
NM_001374736.1(DST):c.19914A>G (p.Val6638=)667DSTBenign-1RCV001517083; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563628345636283456362834-
NM_001374736.1(DST):c.19902C>T (p.Leu6634=)667DSTLikely benign-1RCV002202918; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563628465636284656362846-
NM_001374736.1(DST):c.19896+20T>C667DSTUncertain significance-1RCV003067889; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636585856365858NC_000006.11:g.56365858A>G-
NM_001374736.1(DST):c.19896+9C>T667DSTLikely benign-1RCV002123919; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563658695636586956365869-
NM_001374736.1(DST):c.19896+4C>T667DSTUncertain significancers368685568RCV001309254|RCV002384383; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563658745636587456365874-
NM_001374736.1(DST):c.19893T>C (p.His6631=)667DSTLikely benign-1RCV001461935; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563658815636588156365881-
NM_001374736.1(DST):c.19858G>A (p.Asp6620Asn)667DSTUncertain significancers2096107643RCV001243164; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656365916563659166:g.56365916C>T-
NM_001374736.1(DST):c.19846C>T (p.Pro6616Ser)667DSTUncertain significance-1RCV002581525; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636592856365928NC_000006.11:g.56365928G>A-
NM_001374736.1(DST):c.19842G>T (p.Gln6614His)667DSTUncertain significancers376562335RCV001241127|RCV002379923; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656365932563659326:g.56365932C>A-
NM_001374736.1(DST):c.19824G>A (p.Glu6608_Gly6609=)667DSTUncertain significance-1RCV003067299; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636595056365950NC_000006.11:g.56365950C>T-
NM_001374736.1(DST):c.19822G>A (p.Glu6608Lys)667DSTUncertain significancers752623511RCV001245369; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656365952563659526:g.56365952C>T-
NM_001374736.1(DST):c.19821C>T (p.Thr6607=)667DSTLikely benign-1RCV001409233; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563659535636595356365953-
NM_001374736.1(DST):c.19821C>G (p.Thr6607=)667DSTLikely benign-1RCV001435078; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563659535636595356365953-
NM_001374736.1(DST):c.19820C>G (p.Thr6607Ser)667DSTUncertain significancers911141337RCV001326128; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563659545636595456365954-
NM_001374736.1(DST):c.19820C>A (p.Thr6607Asn)667DSTUncertain significance-1RCV002574788; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636595456365954NC_000006.11:g.56365954G>T-
NM_001374736.1(DST):c.19815A>G (p.Thr6605=)667DSTLikely benign-1RCV001416844; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563659595636595956365959-
NM_001374736.1(DST):c.19782A>G (p.Gln6594=)667DSTLikely benign-1RCV002079868; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563659925636599256365992-
NM_001374736.1(DST):c.19776G>A (p.Gln6592=)667DSTLikely benign-1RCV002085322; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563659985636599856365998-
NM_001374736.1(DST):c.19766C>T (p.Ala6589Val)667DSTUncertain significance-1RCV002615997; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636600856366008NC_000006.11:g.56366008G>A-
NM_001374736.1(DST):c.19761A>G (p.Leu6587=)667DSTLikely benign-1RCV001455218; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563660135636601356366013-
NM_001374736.1(DST):c.19758T>C (p.Ala6586_Leu6587=)667DSTUncertain significance-1RCV003057402; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636601656366016NC_000006.11:g.56366016A>G-
NM_001374736.1(DST):c.19741-7del667DSTLikely benign-1RCV001467254; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563660405636604056366039-
NM_001374736.1(DST):c.19740+19_19740+59del667DSTUncertain significance-1RCV001926265; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563662595636629956366258-
NM_001374736.1(DST):c.19740+17_19740+18del667DSTUncertain significance-1RCV003009927; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636630056366301NC_000006.11:g.56366302_56366303del-
NM_001374736.1(DST):c.19733A>G (p.Asn6578Ser)667DSTUncertain significance-1RCV001864606; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563663255636632556366325-
NM_001374736.1(DST):c.19720G>A (p.Glu6574Lys)667DSTUncertain significance-1RCV002690923; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636633856366338NC_000006.11:g.56366338C>T-
NM_001374736.1(DST):c.19708G>A (p.Asp6570Asn)667DSTUncertain significance-1RCV003095365; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636635056366350NC_000006.11:g.56366350C>T-
NM_001374736.1(DST):c.19705T>G (p.Trp6569Gly)667DSTUncertain significance-1RCV002646733; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636635356366353NC_000006.11:g.56366353A>C-
NM_001374736.1(DST):c.19698A>G (p.Lys6566=)667DSTLikely benign-1RCV001487341; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563663605636636056366360-
NM_001374736.1(DST):c.19695G>A (p.Leu6565_Lys6566=)667DSTUncertain significance-1RCV002597599; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636636356366363NC_000006.11:g.56366363C>T-
NM_001374736.1(DST):c.19693C>T (p.Leu6565=)667DSTLikely benign-1RCV001465487; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563663655636636556366365-
NM_001374736.1(DST):c.19689G>A (p.Met6563Ile)667DSTUncertain significancers1488090620RCV001303269; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563663695636636956366369-
NM_001374736.1(DST):c.19683A>G (p.Pro6561=)667DSTLikely benign-1RCV001498984; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563663755636637556366375-
NM_001374736.1(DST):c.19656G>C (p.Glu6552Asp)667DSTUncertain significancers199549741RCV000813415|RCV002381815; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656366402563664026:g.56366402C>G-
NM_001374736.1(DST):c.19649C>T (p.Thr6550Ile)667DSTUncertain significance-1RCV001932182; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563664095636640956366409-
NM_001374736.1(DST):c.19648A>G (p.Thr6550Ala)667DSTBenign/Likely benignrs147983675RCV000979190|RCV002259374; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656366410563664106:g.56366410T>C-
NM_001374736.1(DST):c.19630C>T (p.Leu6544Phe)667DSTUncertain significancers1314348115RCV001240273; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656366428563664286:g.56366428G>A-
NM_001374736.1(DST):c.19630C>G (p.Leu6544Val)667DSTUncertain significancers1314348115RCV001248122; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656366428563664286:g.56366428G>C-
NM_001374736.1(DST):c.19604T>C (p.Met6535Thr)667DSTUncertain significancers1371787646RCV001327629; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563664545636645456366454-
NM_001374736.1(DST):c.19594C>G (p.Gln6532Glu)667DSTUncertain significance-1RCV001891932; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563664645636646456366464-
NM_001374736.1(DST):c.19590A>G (p.Gln6530=)667DSTLikely benign-1RCV002204038; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563664685636646856366468-
NM_001374736.1(DST):c.19582G>A (p.Ala6528Thr)667DSTUncertain significance-1RCV002013600; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563664765636647656366476-
NM_001374736.1(DST):c.19566+15T>C667DSTLikely benign-1RCV002094222; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563687805636878056368780-
NM_001374736.1(DST):c.19566+11G>A667DSTLikely benign-1RCV002178184; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563687845636878456368784-
NM_001374736.1(DST):c.19566+7G>T667DSTLikely benign-1RCV001477825; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563687885636878856368788-
NM_001374736.1(DST):c.19560G>A (p.Glu6520=)667DSTLikely benign-1RCV002120252; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563688015636880156368801-
NM_001374736.1(DST):c.19559A>T (p.Glu6520Val)667DSTUncertain significance-1RCV002806733; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636880256368802NC_000006.11:g.56368802T>A-
NM_001374736.1(DST):c.19558G>C (p.Glu6520Gln)667DSTUncertain significance-1RCV002755646; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636880356368803NC_000006.11:g.56368803C>G-
NM_001374736.1(DST):c.19554T>G (p.Ile6518Met)667DSTUncertain significance-1RCV003064165; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636880756368807NC_000006.11:g.56368807A>C-
NM_001374736.1(DST):c.19553T>C (p.Ile6518Thr)667DSTUncertain significancers781138348RCV001245857; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656368808563688086:g.56368808A>G-
NM_001374736.1(DST):c.19538C>T (p.Thr6513Ile)667DSTUncertain significancers200108872RCV001322473; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563688235636882356368823-
NM_001374736.1(DST):c.19538C>A (p.Thr6513Asn)667DSTUncertain significance-1RCV002010953; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563688235636882356368823-
NM_001374736.1(DST):c.19536A>G (p.Glu6512_Thr6513=)667DSTLikely benign-1RCV003060703; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636882556368825NC_000006.11:g.56368825T>C-
NM_001374736.1(DST):c.19533C>T (p.Leu6511=)667DSTLikely benign-1RCV002176420; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563688285636882856368828-
NM_001374736.1(DST):c.19509A>G (p.Ser6503_Met6504=)667DSTUncertain significance-1RCV003093483; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636885256368852NC_000006.11:g.56368852T>C-
NM_001374736.1(DST):c.19491A>G (p.Ala6497=)667DSTLikely benignrs1583341150RCV000980441|RCV001407451; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656368870563688706:g.56368870T>C-
NM_001374736.1(DST):c.19470A>G (p.Val6490=)667DSTLikely benign-1RCV001435148; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563688915636889156368891-
NM_001374736.1(DST):c.19467G>A (p.Ala6489=)667DSTUncertain significance-1RCV002022199; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563688945636889456368894-
NM_001374736.1(DST):c.19466C>T (p.Ala6489Val)667DSTUncertain significancers766294952RCV001239368|RCV001261749|RCV002379913; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181||MeSH:D030342,MedGen:C0950123656368895563688956:g.56368895G>A-
NM_001374736.1(DST):c.19465-8T>C667DSTUncertain significance-1RCV002947569; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165636890456368904NC_000006.11:g.56368904A>G-
NM_001374736.1(DST):c.19465-15G>A667DSTUncertain significance-1RCV003093653; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165636891156368911NC_000006.11:g.56368911C>T-
NM_001374736.1(DST):c.19465-19G>T667DSTLikely benign-1RCV001904759; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563689155636891556368915-
NM_001374736.1(DST):c.19464+19A>G667DSTUncertain significance-1RCV003077871; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637122256371222NC_000006.11:g.56371222T>C-
NM_001374736.1(DST):c.19464+16T>C667DSTLikely benign-1RCV002107838; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563712255637122556371225-
NM_001374736.1(DST):c.19464+1G>A667DSTLikely pathogenic-1RCV003033066; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637124056371240NC_000006.11:g.56371240C>T-
NM_001374736.1(DST):c.19453G>T (p.Asp6485Tyr)667DSTUncertain significancers2096316666RCV001246466; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656371252563712526:g.56371252C>A-
NM_001374736.1(DST):c.19441G>A (p.Val6481Ile)667DSTUncertain significance-1RCV001962441; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563712645637126456371264-
NM_001374736.1(DST):c.19440C>T (p.Ala6480=)667DSTLikely benign-1RCV002100948; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563712655637126556371265-
NM_001374736.1(DST):c.19420G>A (p.Glu6474Lys)667DSTUncertain significance-1RCV003121377; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637128556371285NC_000006.11:g.56371285C>T-
NM_001374736.1(DST):c.19415A>G (p.Lys6472Arg)667DSTConflicting interpretations of pathogenicity-1RCV001952078|RCV002386732; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563712905637129056371290-
NM_001374736.1(DST):c.19409T>C (p.Ile6470Thr)667DSTUncertain significance-1RCV001954240; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563712965637129656371296-
NM_001374736.1(DST):c.19406G>A (p.Arg6469Gln)667DSTUncertain significancers767731448RCV002379943|RCV001246531; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656371299563712996:g.56371299C>T-
NM_001374736.1(DST):c.19392A>G (p.Lys6464=)667DSTUncertain significancers2096318328RCV001248467; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656371313563713136:g.56371313T>C-
NM_001374736.1(DST):c.19363-14C>A667DSTUncertain significance-1RCV003081732; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637135656371356NC_000006.11:g.56371356G>T-
NM_001374736.1(DST):c.19362+15_19362+18del667DSTUncertain significance-1RCV003081452; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637144756371450NC_000006.11:g.56371447TAAG[1]-
NM_001374736.1(DST):c.19362+8T>G667DSTLikely benign-1RCV001472923; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563714575637145756371457-
NM_001374736.1(DST):c.19356A>G (p.Ile6452Met)667DSTUncertain significancers2096326322RCV001294444; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563714715637147156371471-
NM_001374736.1(DST):c.19351A>G (p.Ser6451Gly)667DSTUncertain significance-1RCV003092225; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637147656371476NC_000006.11:g.56371476T>C-
NM_001374736.1(DST):c.19346A>G (p.Lys6449Arg)667DSTUncertain significancers775631178RCV001319144; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563714815637148156371481-
NM_001374736.1(DST):c.19345A>T (p.Lys6449Ter)667DSTPathogenic/Likely pathogenicrs1562435373RCV000754992; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637148256371482NC_000006.11:g.56371482T>AOMIM:113810.0004
NM_001374736.1(DST):c.19344C>A (p.Val6448_Lys6449=)667DSTBenignrs201031760RCV000979004; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656371483563714836:g.56371483G>T-
NM_001374736.1(DST):c.19339A>G (p.Ile6447Val)667DSTUncertain significance-1RCV001896165; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563714885637148856371488-
NM_001374736.1(DST):c.19337C>T (p.Pro6446Leu)667DSTUncertain significance-1RCV002005197; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563714905637149056371490-
NM_001374736.1(DST):c.19332T>C (p.Asp6444=)667DSTLikely benign-1RCV001424427; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563714955637149556371495-
NM_001374736.1(DST):c.19322G>A (p.Gly6441Glu)667DSTUncertain significance-1RCV001771546|RCV001885057; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563715055637150556371505-
NM_001374736.1(DST):c.19320T>C (p.Cys6440=)667DSTLikely benign-1RCV002158521; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563715075637150756371507-
NM_001374736.1(DST):c.19317A>G (p.Ala6439=)667DSTLikely benign-1RCV001467255; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563715105637151056371510-
NM_001374736.1(DST):c.19314G>A (p.Ala6438=)667DSTUncertain significance-1RCV001925513; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563715135637151356371513-
NM_001374736.1(DST):c.19313C>T (p.Ala6438Val)667DSTUncertain significance-1RCV001972990; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563715145637151456371514-
NM_001374736.1(DST):c.19306C>G (p.Leu6436Val)667DSTUncertain significance-1RCV002626819; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637152156371521NC_000006.11:g.56371521G>C-
NM_001374736.1(DST):c.19300T>A (p.Ser6434Thr)667DSTUncertain significance-1RCV003027757; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637152756371527NC_000006.11:g.56371527A>T-
NM_001374736.1(DST):c.19294C>G (p.Leu6432Val)667DSTUncertain significancers1463615455RCV001348488; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563715335637153356371533-
NM_001374736.1(DST):c.19272G>T (p.Glu6424Asp)667DSTUncertain significancers2096328571RCV001242822; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656371555563715556:g.56371555C>A-
NM_001374736.1(DST):c.19240-10C>G667DSTLikely benign-1RCV002119953; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563715975637159756371597-
NM_001374736.1(DST):c.19240-15A>G667DSTLikely benign-1RCV002093384; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563716025637160256371602-
NM_001374736.1(DST):c.19239+10A>T667DSTLikely benignrs767526367RCV000979186|RCV001415831; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656373317563733176:g.56373317T>A-
NM_001374736.1(DST):c.19233A>G (p.Ala6411=)667DSTLikely benign-1RCV001395943; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563733335637333356373333-
NM_001374736.1(DST):c.19230A>G (p.Glu6410=)667DSTLikely benign-1RCV001444665; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563733365637333656373336-
NM_001374736.1(DST):c.19213G>A (p.Val6405Ile)667DSTUncertain significancers2096396105RCV001316932; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563733535637335356373353-
NM_001374736.1(DST):c.19212A>G (p.Val6404=)667DSTUncertain significance-1RCV001999457; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563733545637335456373354-
NM_001374736.1(DST):c.19211T>G (p.Val6404Gly)667DSTUncertain significance-1RCV001962431; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563733555637335556373355-
NM_001374736.1(DST):c.19210G>A (p.Val6404Ile)667DSTUncertain significancers773401291RCV001239171; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656373356563733566:g.56373356C>T-
NM_001374736.1(DST):c.19192C>A (p.Pro6398Thr)667DSTUncertain significance-1RCV001956989; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563733745637337456373374-
NM_001374736.1(DST):c.19183C>T (p.Leu6395_Glu6396=)667DSTUncertain significance-1RCV003089773; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637338356373383NC_000006.11:g.56373383G>A-
NM_001374736.1(DST):c.19178G>A (p.Arg6393Gln)667DSTUncertain significancers759918675RCV002379946|RCV001246651; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656373388563733886:g.56373388C>T-
NM_001374736.1(DST):c.19177C>T (p.Arg6393Trp)667DSTUncertain significance-1RCV002027538; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563733895637338956373389-
NM_001374736.1(DST):c.19175T>C (p.Ile6392Thr)667DSTUncertain significance-1RCV001919427; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563733915637339156373391-
NM_001374736.1(DST):c.19168G>A (p.Asp6390Asn)667DSTUncertain significance-1RCV002995233; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637339856373398NC_000006.11:g.56373398C>T-
NM_001374736.1(DST):c.19160A>T (p.Asp6387Val)667DSTUncertain significance-1RCV002889440; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637340656373406NC_000006.11:g.56373406T>A-
NM_001374736.1(DST):c.19141T>C (p.Leu6381=)667DSTLikely benign-1RCV001451708; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563734255637342556373425-
NM_001374736.1(DST):c.19135A>T (p.Met6379Leu)667DSTUncertain significance-1RCV001373555; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563734315637343156373431-
NM_001374736.1(DST):c.19125G>T (p.Trp6375Cys)667DSTUncertain significance-1RCV002825456; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637344156373441NC_000006.11:g.56373441C>A-
NM_001374736.1(DST):c.19111G>A (p.Ala6371Thr)667DSTUncertain significance-1RCV001920777; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563734555637345556373455-
NM_001374736.1(DST):c.19108C>G (p.Leu6370Val)667DSTUncertain significancers2096398026RCV001299561; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563734585637345856373458-
NM_001374736.1(DST):c.19102A>G (p.Met6368Val)667DSTUncertain significance-1RCV002049214; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563734645637346456373464-
NM_001374736.1(DST):c.19095G>T (p.Leu6365=)667DSTLikely benign-1RCV001481542; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563734715637347156373471-
NM_001374736.1(DST):c.19088A>C (p.Lys6363Thr)667DSTUncertain significance-1RCV001991609; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563734785637347856373478-
NM_001374736.1(DST):c.19074A>G (p.Glu6358=)667DSTLikely benign-1RCV002184391; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563734925637349256373492-
NM_001374736.1(DST):c.19058T>G (p.Ile6353Arg)667DSTUncertain significance-1RCV002770947; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637350856373508NC_000006.11:g.56373508A>C-
NM_001374736.1(DST):c.19056C>T (p.Asn6352=)667DSTLikely benign-1RCV001470385; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563735105637351056373510-
NM_001374736.1(DST):c.19047T>C (p.Ile6349=)667DSTLikely benign-1RCV001451856; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563735195637351956373519-
NM_001374736.1(DST):c.19042T>G (p.Phe6348Val)667DSTUncertain significance-1RCV001986768; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563735245637352456373524-
NM_001374736.1(DST):c.19030G>A (p.Asp6344Asn)667DSTBenign-1RCV001420700|RCV001534960|RCV001514392; NMONDO: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:3143816563735365637353656373536-
NM_001374736.1(DST):c.19013-7T>C667DSTLikely benign-1RCV001430616; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563735605637356056373560-
NM_001374736.1(DST):c.19013-19A>T667DSTLikely benign-1RCV003072254; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637357256373572NC_000006.11:g.56373572T>A-
NM_001374736.1(DST):c.19012+20G>T667DSTUncertain significance-1RCV001980153; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563744205637442056374420-
NM_001374736.1(DST):c.19012+15A>G667DSTLikely benign-1RCV003076901; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637442556374425NC_000006.11:g.56374425T>C-
NM_001374736.1(DST):c.19009A>G (p.Lys6337Glu)667DSTUncertain significancers2096426641RCV001326609; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563744435637444356374443-
NM_001374736.1(DST):c.19001T>C (p.Ile6334Thr)667DSTUncertain significance-1RCV001988696; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563744515637445156374451-
NM_001374736.1(DST):c.18976A>G (p.Arg6326Gly)667DSTUncertain significance-1RCV002796566; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637447656374476NC_000006.11:g.56374476T>C-
NM_001374736.1(DST):c.18962A>G (p.Glu6321Gly)667DSTUncertain significance-1RCV002008030; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563744905637449056374490-
NM_001374736.1(DST):c.18938A>G (p.Tyr6313Cys)667DSTUncertain significancers781596409RCV001239300|RCV002261316; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656374514563745146:g.56374514T>C-
NM_001374736.1(DST):c.18921A>G (p.Glu6307=)667DSTLikely benign-1RCV001450322; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563745315637453156374531-
NM_001374736.1(DST):c.18918G>C (p.Met6306Ile)667DSTUncertain significance-1RCV001921068; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563745345637453456374534-
NM_001374736.1(DST):c.18917T>C (p.Met6306Thr)667DSTUncertain significancers771484088RCV001297034; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563745355637453556374535-
NM_001374736.1(DST):c.18908C>T (p.Ser6303Leu)667DSTUncertain significancers775490741RCV001242625; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656374544563745446:g.56374544G>A-
NM_001374736.1(DST):c.18893A>G (p.Glu6298Gly)667DSTUncertain significance-1RCV002816567; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637455956374559NC_000006.11:g.56374559T>C-
NM_001374736.1(DST):c.18890G>T (p.Ser6297Ile)667DSTUncertain significancers2096429215RCV001240213; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656374562563745626:g.56374562C>A-
NM_001374736.1(DST):c.18888C>T (p.Ile6296=)667DSTLikely benign-1RCV001441421; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563745645637456456374564-
NM_001374736.1(DST):c.18885G>T (p.Gln6295His)667DSTUncertain significance-1RCV002979191; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637456756374567NC_000006.11:g.56374567C>A-
NM_001374736.1(DST):c.18883C>G (p.Gln6295Glu)667DSTUncertain significancers2096429659RCV001351072; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563745695637456956374569-
NM_001374736.1(DST):c.18882A>G (p.Glu6294=)667DSTLikely benign-1RCV001432501; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563745705637457056374570-
NM_001374736.1(DST):c.18849C>G (p.Pro6283=)667DSTLikely benign-1RCV001482930; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563746035637460356374603-
NM_001374736.1(DST):c.18847C>A (p.Pro6283Thr)667DSTUncertain significancers2096430348RCV001244545; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656374605563746056:g.56374605G>T-
NM_001374736.1(DST):c.18838A>C (p.Arg6280=)667DSTLikely benign-1RCV001420016; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563746145637461456374614-
NM_001374736.1(DST):c.18836T>A (p.Leu6279Gln)667DSTUncertain significance-1RCV001934242; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563746165637461656374616-
NM_001374736.1(DST):c.18826G>A (p.Val6276Met)667DSTUncertain significancers377620360RCV001245645; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656374626563746266:g.56374626C>T-
NM_001374736.1(DST):c.18825C>T (p.Ile6275=)667DSTLikely benign-1RCV001402494; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563746275637462756374627-
NM_001374736.1(DST):c.18820C>T (p.Arg6274Cys)667DSTUncertain significance-1RCV001922266; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563746325637463256374632-
NM_001374736.1(DST):c.18801G>T (p.Gln6267His)667DSTUncertain significancers778466743RCV001344285|RCV002395753; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563746515637465156374651-
NM_001374736.1(DST):c.18788A>G (p.Asp6263Gly)667DSTUncertain significance-1RCV001915993; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563746645637466456374664-
NM_001374736.1(DST):c.18780+20A>G667DSTLikely benign-1RCV002213461; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563759755637597556375975-
NM_001374736.1(DST):c.18780+14C>G667DSTLikely benign-1RCV001956711; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563759815637598156375981-
NM_001374736.1(DST):c.18777T>C (p.Thr6259=)667DSTLikely benign-1RCV002209022; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563759985637599856375998-
NM_001374736.1(DST):c.18775A>G (p.Thr6259Ala)667DSTUncertain significance-1RCV002004924; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563760005637600056376000-
NM_001374736.1(DST):c.18771A>G (p.Gln6257=)667DSTLikely benign-1RCV002116762; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563760045637600456376004-
NM_001374736.1(DST):c.18754G>A (p.Asp6252Asn)667DSTLikely benign-1RCV001441806; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563760215637602156376021-
NM_001374736.1(DST):c.18750A>G (p.Ala6250=)667DSTLikely benign-1RCV002088657; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563760255637602556376025-
NM_001374736.1(DST):c.18747G>A (p.Val6249=)667DSTLikely benign-1RCV001465895; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563760285637602856376028-
NM_001374736.1(DST):c.18740G>A (p.Arg6247His)667DSTUncertain significancers368560111RCV001244949; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656376035563760356:g.56376035C>T-
NM_001374736.1(DST):c.18739C>T (p.Arg6247Cys)667DSTUncertain significance-1RCV001926296; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563760365637603656376036-
NM_001374736.1(DST):c.18736A>G (p.Lys6246Glu)667DSTUncertain significance-1RCV003081457; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637603956376039NC_000006.11:g.56376039T>C-
NM_001374736.1(DST):c.18731T>A (p.Val6244Asp)667DSTUncertain significance-1RCV002781123; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637604456376044NC_000006.11:g.56376044A>T-
NM_001374736.1(DST):c.18715C>T (p.Gln6239Ter)667DSTPathogenicrs2096469777RCV001248592; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656376060563760606:g.56376060G>A-
NM_001374736.1(DST):c.18702C>T (p.Asp6234=)667DSTLikely benign-1RCV001483483; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563760735637607356376073-
NM_001374736.1(DST):c.18701A>G (p.Asp6234Gly)667DSTUncertain significance-1RCV001359473; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563760745637607456376074-
NM_001374736.1(DST):c.18700G>A (p.Asp6234Asn)667DSTUncertain significancers753185411RCV001295126; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563760755637607556376075-
NM_001374736.1(DST):c.18699C>T (p.Ala6233_Asp6234=)667DSTLikely benignrs373689917RCV000979184; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656376076563760766:g.56376076G>A-
NM_001374736.1(DST):c.18695C>T (p.Ala6232Val)667DSTUncertain significance-1RCV001373937; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563760805637608056376080-
NM_001374736.1(DST):c.18684G>A (p.Glu6228=)667DSTBenign-1RCV001514395|RCV001615189; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN5172026563760915637609156376091-
NM_001374736.1(DST):c.18681A>G (p.Gln6227_Glu6228=)667DSTUncertain significance-1RCV003016118; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637609456376094NC_000006.11:g.56376094T>C-
NM_001374736.1(DST):c.18673T>G (p.Ser6225Ala)667DSTUncertain significancers1033335791RCV001242564|RCV002366070; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656376102563761026:g.56376102A>C-
NM_001374736.1(DST):c.18670T>C (p.Phe6224Leu)667DSTUncertain significance-1RCV002756586; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637610556376105NC_000006.11:g.56376105A>G-
NM_001374736.1(DST):c.18625A>T (p.Asn6209Tyr)667DSTUncertain significance-1RCV002020718; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563761505637615056376150-
NM_001374736.1(DST):c.18621G>A (p.Lys6207_Met6208=)667DSTLikely benignrs1583547445RCV000979092|RCV001410503; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656376154563761546:g.56376154C>T-
NM_001374736.1(DST):c.18606G>A (p.Lys6202=)667DSTLikely benign-1RCV001502455; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563761695637616956376169-
NM_001374736.1(DST):c.18603C>T (p.His6201_Lys6202=)667DSTUncertain significance-1RCV003112836; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165637617256376172NC_000006.11:g.56376172G>A-
NM_001374736.1(DST):c.18601C>T (p.His6201Tyr)667DSTUncertain significancers371649829RCV001295125; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563761745637617456376174-
NM_001374736.1(DST):c.18597T>C (p.Ala6199=)667DSTLikely benign-1RCV001457942; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563761785637617856376178-
NM_001374736.1(DST):c.18589T>C (p.Leu6197=)667DSTLikely benign-1RCV001466350; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563761865637618656376186-
NM_001374736.1(DST):c.18577-3T>C667DSTUncertain significance-1RCV001921397; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563762015637620156376201-
NM_001374736.1(DST):c.18577-4A>G667DSTLikely benign-1RCV003077787; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165637620256376202NC_000006.11:g.56376202T>C-
NM_001374736.1(DST):c.18576+10G>A667DSTLikely benign-1RCV002164397; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563802385638023856380238-
NM_001374736.1(DST):c.18576G>A (p.Arg6192=)667DSTUncertain significancers2096570211RCV001238912; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656380248563802486:g.56380248C>T-
NM_001374736.1(DST):c.18571C>T (p.His6191Tyr)667DSTUncertain significancers764457552RCV001349556; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563802535638025356380253-
NM_001374736.1(DST):c.18568G>A (p.Glu6190Lys)667DSTUncertain significancers754382598RCV001245921; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656380256563802566:g.56380256C>T-
NM_001374736.1(DST):c.18543T>C (p.Tyr6181=)667DSTLikely benign-1RCV002218689; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563802815638028156380281-
NM_001374736.1(DST):c.18529C>T (p.Pro6177Ser)667DSTUncertain significance-1RCV002654315; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638029556380295NC_000006.11:g.56380295G>A-
NM_001374736.1(DST):c.18526G>A (p.Ala6176Thr)667DSTUncertain significancers540680338RCV001239734; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656380298563802986:g.56380298C>T-
NM_001374736.1(DST):c.18525C>T (p.Pro6175=)667DSTLikely benign-1RCV001445439; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563802995638029956380299-
NM_001374736.1(DST):c.18513C>G (p.Ile6171Met)667DSTUncertain significancers1029481180RCV001242562; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656380311563803116:g.56380311G>C-
NM_001374736.1(DST):c.18511A>G (p.Ile6171Val)667DSTUncertain significance-1RCV001864614|RCV002359326; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563803135638031356380313-
NM_001374736.1(DST):c.18508A>G (p.Ile6170Val)667DSTUncertain significancers374091334RCV001342561|RCV002357183; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563803165638031656380316-
NM_001374736.1(DST):c.18489G>C (p.Trp6163Cys)667DSTUncertain significance-1RCV001870366; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563803355638033556380335-
NM_001374736.1(DST):c.18480T>C (p.Leu6160=)667DSTLikely benign-1RCV001470426; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563803445638034456380344-
NM_001374736.1(DST):c.18478C>T (p.Leu6160Phe)667DSTUncertain significance-1RCV001363264; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563803465638034656380346-
NM_001374736.1(DST):c.18472G>A (p.Glu6158Lys)667DSTUncertain significancers955207101RCV001322995; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563803525638035256380352-
NM_001374736.1(DST):c.18456A>G (p.Gln6152_Phe6153=)667DSTUncertain significance-1RCV003072036; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638036856380368NC_000006.11:g.56380368T>C-
NM_001374736.1(DST):c.18448G>A (p.Val6150Ile)667DSTUncertain significance-1RCV001367337; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563803765638037656380376-
NM_001374736.1(DST):c.18439C>T (p.Gln6147Ter)667DSTPathogenic-1RCV002035254; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563803855638038556380385-
NM_001374736.1(DST):c.18436G>A (p.Ala6146Thr)667DSTUncertain significance-1RCV002632579; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638038856380388NC_000006.11:g.56380388C>T-
NM_001374736.1(DST):c.18435G>A (p.Arg6145_Ala6146=)667DSTUncertain significance-1RCV002825649; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638038956380389NC_000006.11:g.56380389C>T-
NM_001374736.1(DST):c.18434G>A (p.Arg6145Gln)667DSTUncertain significance-1RCV003076884; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638039056380390NC_000006.11:g.56380390C>T-
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp)667DSTConflicting interpretations of pathogenicityrs193252082RCV000981886|RCV001200472|RCV002346188; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MeSH:D030342,MedGen:C0950123656380391563803916:g.56380391G>A-
NM_001374736.1(DST):c.18432A>G (p.Glu6144=)667DSTLikely benign-1RCV002081050; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563803925638039256380392-
NM_001374736.1(DST):c.18404T>G (p.Ile6135Ser)667DSTUncertain significancers760688522RCV000815504|RCV002345867; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656380420563804206:g.56380420A>C-
NM_001374736.1(DST):c.18397T>A (p.Cys6133Ser)667DSTBenign/Likely benignrs75105686RCV000979017|RCV001766800; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656380427563804276:g.56380427A>T-
NM_001374736.1(DST):c.18392C>A (p.Thr6131Asn)667DSTUncertain significance-1RCV002050416; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563804325638043256380432-
NM_001374736.1(DST):c.18381G>C (p.Lys6127Asn)667DSTUncertain significance-1RCV001998379; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563804435638044356380443-
NM_001374736.1(DST):c.18373G>A (p.Val6125Ile)667DSTUncertain significance-1RCV001929021; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563804515638045156380451-
NM_001374736.1(DST):c.18358-13T>C667DSTLikely benign-1RCV002093874; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563804795638047956380479-
NM_001374736.1(DST):c.18358-16T>C667DSTBenign-1RCV002180388; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563804825638048256380482-
NM_001374736.1(DST):c.18358-20T>G667DSTLikely benign-1RCV001960595; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563804865638048656380486-
NM_001374736.1(DST):c.18357+15G>A667DSTLikely benign-1RCV002087111; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563819815638198156381981-
NM_001374736.1(DST):c.18357+5A>C667DSTUncertain significance-1RCV001977094; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563819915638199156381991-
NM_001374736.1(DST):c.18355A>G (p.Lys6119Glu)667DSTUncertain significance-1RCV003048259; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638199856381998NC_000006.11:g.56381998T>C-
NM_001374736.1(DST):c.18351A>C (p.Ser6117=)667DSTLikely benign-1RCV002210258; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563820025638200256382002-
NM_001374736.1(DST):c.18348A>G (p.Gln6116=)667DSTLikely benign-1RCV001467253; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563820055638200556382005-
NM_001374736.1(DST):c.18325G>A (p.Ala6109Thr)667DSTUncertain significance-1RCV001968037; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563820285638202856382028-
NM_001374736.1(DST):c.18324C>T (p.Thr6108=)667DSTLikely benign-1RCV001448866; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563820295638202956382029-
NM_001374736.1(DST):c.18298G>A (p.Val6100Ile)667DSTUncertain significance-1RCV001877092; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563820555638205556382055-
NM_001374736.1(DST):c.18276C>G (p.His6092Gln)667DSTUncertain significancers747211113RCV001245858; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656382077563820776:g.56382077G>C-
NM_001374736.1(DST):c.18276C>T (p.His6092_Lys6093=)667DSTLikely benign-1RCV002619317; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638207756382077NC_000006.11:g.56382077G>A-
NM_001374736.1(DST):c.18275A>G (p.His6092Arg)667DSTUncertain significance-1RCV003029896; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638207856382078NC_000006.11:g.56382078T>C-
NM_001374736.1(DST):c.18257C>T (p.Thr6086Ile)667DSTUncertain significancers769780483RCV001245855; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656382096563820966:g.56382096G>A-
NM_001374736.1(DST):c.18253T>C (p.Phe6085Leu)667DSTUncertain significancers370466372RCV001322522; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563821005638210056382100-
NM_001374736.1(DST):c.18250A>G (p.Thr6084Ala)667DSTUncertain significancers749880417RCV001341002; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563821035638210356382103-
NM_001374736.1(DST):c.18250-7A>T667DSTLikely benign-1RCV001452163; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563821105638211056382110-
NM_001374736.1(DST):c.18250-11G>A667DSTLikely benign-1RCV002153282; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563821145638211456382114-
NM_001374736.1(DST):c.18250-11G>T667DSTLikely benign-1RCV002099394; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563821145638211456382114-
NM_001374736.1(DST):c.18249+10T>C667DSTLikely benign-1RCV001408530; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563822895638228956382289-
NM_001374736.1(DST):c.18249+3G>A667DSTUncertain significancers200813187RCV002568666|RCV001246798; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656382296563822966:g.56382296C>T-
NM_001374736.1(DST):c.18219C>T (p.Asp6073=)667DSTLikely benign-1RCV002207278; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563823295638232956382329-
NM_001374736.1(DST):c.18213G>T (p.Glu6071Asp)667DSTUncertain significancers373876039RCV001243366|RCV002261323|RCV002327587; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MeSH:D030342,MedGen:C0950123656382335563823356:g.56382335C>A-
NM_001374736.1(DST):c.18197G>A (p.Gly6066Asp)667DSTUncertain significance-1RCV002828878; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165638235156382351NC_000006.11:g.56382351C>T-
NM_001374736.1(DST):c.18186G>T (p.Leu6062Phe)667DSTUncertain significance-1RCV003047237; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638236256382362NC_000006.11:g.56382362C>A-
NM_001374736.1(DST):c.18178A>G (p.Lys6060Glu)667DSTUncertain significance-1RCV001948836; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563823705638237056382370-
NM_001374736.1(DST):c.18177A>T (p.Glu6059Asp)667DSTUncertain significancers1275339494RCV001238970|RCV002339662; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656382371563823716:g.56382371T>A-
NM_001374736.1(DST):c.18152A>G (p.Glu6051Gly)667DSTUncertain significance-1RCV002862843; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165638239656382396NC_000006.11:g.56382396T>C-
NM_001374736.1(DST):c.18146A>G (p.Asp6049Gly)667DSTUncertain significancers1172615642RCV001295572; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563824025638240256382402-
NM_001374736.1(DST):c.18135C>G (p.Asp6045Glu)667DSTUncertain significancers368605712RCV001248664; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656382413563824136:g.56382413G>C-
NM_001374736.1(DST):c.18129+12T>C667DSTLikely benign-1RCV002216676; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563911475639114756391147-
NM_001374736.1(DST):c.18129+3A>G667DSTUncertain significance-1RCV002328588|RCV003094726; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563911565639115656391156-
NM_001374736.1(DST):c.18123A>G (p.Ser6041=)667DSTLikely benign-1RCV002160837; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563911655639116556391165-
NM_001374736.1(DST):c.18119G>A (p.Arg6040Gln)667DSTUncertain significance-1RCV001984772; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563911695639116956391169-
NM_001374736.1(DST):c.18117G>T (p.Leu6039=)667DSTLikely benign-1RCV002154305; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563911715639117156391171-
NM_001374736.1(DST):c.18105T>C (p.Asp6035_Ala6036=)667DSTBenignrs148368712RCV000979019|RCV001638025; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656391183563911836:g.56391183A>G-
NM_001374736.1(DST):c.18102C>T (p.Ile6034=)667DSTLikely benign-1RCV001456513; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563911865639118656391186-
NM_001374736.1(DST):c.18091G>A (p.Val6031Met)667DSTUncertain significancers1164812960RCV001241933; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656391197563911976:g.56391197C>T-
NM_001374736.1(DST):c.18082A>G (p.Thr6028Ala)667DSTUncertain significancers757401983RCV001309752; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563912065639120656391206-
NM_001374736.1(DST):c.18081C>T (p.Ile6027=)667DSTLikely benign-1RCV001428425; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563912075639120756391207-
NM_001374736.1(DST):c.18076A>G (p.Thr6026Ala)667DSTUncertain significance-1RCV002007808; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563912125639121256391212-
NM_001374736.1(DST):c.18072C>T (p.Ser6024=)667DSTLikely benign-1RCV001500297; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563912165639121656391216-
NM_001374736.1(DST):c.18071G>A (p.Ser6024Asn)667DSTUncertain significance-1RCV001361395; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563912175639121756391217-
NM_001374736.1(DST):c.18065T>C (p.Leu6022Ser)667DSTUncertain significancers2096797952RCV001247512; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656391223563912236:g.56391223A>G-
NM_001374736.1(DST):c.18062G>A (p.Arg6021Gln)667DSTUncertain significancers755338488RCV001247062; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656391226563912266:g.56391226C>T-
NM_001374736.1(DST):c.18061C>T (p.Arg6021Ter)667DSTPathogenic-1RCV001960697; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563912275639122756391227-
NM_001374736.1(DST):c.18056G>A (p.Arg6019His)667DSTUncertain significancers745991437RCV001243432; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656391232563912326:g.56391232C>T-
NM_001374736.1(DST):c.18050A>G (p.Asn6017Ser)667DSTUncertain significance-1RCV002038212; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563912385639123856391238-
NM_001374736.1(DST):c.18047A>G (p.Asp6016Gly)667DSTUncertain significancers1444942164RCV000625439|RCV001347780|RCV001700278; NMONDO: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:CN517202656391241563912416:g.56391241T>CClinGen:CA364505744C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.18039A>G (p.Val6013=)667DSTLikely benign-1RCV001495432; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563912495639124956391249-
NM_001374736.1(DST):c.18036G>A (p.Met6012Ile)667DSTUncertain significance-1RCV002029311; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563912525639125256391252-
NM_001374736.1(DST):c.18023G>A (p.Gly6008Glu)667DSTUncertain significancers746414483RCV001240274|RCV002327580; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656391265563912656:g.56391265C>T-
NM_001374736.1(DST):c.18008G>A (p.Trp6003Ter)667DSTPathogenicrs2096799052RCV001242502; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656391280563912806:g.56391280C>T-
NM_001374736.1(DST):c.18005C>T (p.Pro6002Leu)667DSTUncertain significance-1RCV001896763; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563912835639128356391283-
NM_001374736.1(DST):c.18001G>A (p.Val6001Ile)667DSTUncertain significance-1RCV002001922; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563912875639128756391287-
NM_001374736.1(DST):c.18001G>C (p.Val6001Leu)667DSTUncertain significance-1RCV003093339; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639128756391287NC_000006.11:g.56391287C>G-
NM_001374736.1(DST):c.17974G>A (p.Glu5992Lys)667DSTUncertain significancers1272059049RCV001348084|RCV002377478; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236563913145639131456391314-
NM_001374736.1(DST):c.17968C>G (p.Leu5990Val)667DSTUncertain significance-1RCV002026188; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563913205639132056391320-
NM_001374736.1(DST):c.17948A>G (p.Asn5983Ser)667DSTUncertain significancers201492565RCV001241249; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656391340563913406:g.56391340T>C-
NM_001374736.1(DST):c.17942A>G (p.Lys5981Arg)667DSTUncertain significancers2096799768RCV001246527; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656391346563913466:g.56391346T>C-
NM_001374736.1(DST):c.17940T>G (p.Ala5980=)667DSTLikely benign-1RCV002206154; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563913485639134856391348-
NM_001374736.1(DST):c.17939C>G (p.Ala5980Gly)667DSTUncertain significance-1RCV001865193|RCV002361136; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236563913495639134956391349-
NM_001374736.1(DST):c.17933A>C (p.Lys5978Thr)667DSTUncertain significance-1RCV002355499|RCV003094403; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563913555639135556391355-
NM_001374736.1(DST):c.17928G>A (p.Leu5976=)667DSTLikely benign-1RCV002103418; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563913605639136056391360-
NM_001374736.1(DST):c.17923G>A (p.Glu5975Lys)667DSTUncertain significancers371243432RCV001248190|RCV002357053; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656391365563913656:g.56391365C>T-
NM_001374736.1(DST):c.17923-2A>G667DSTLikely pathogenic-1RCV001998586; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563913675639136756391367-
NM_001374736.1(DST):c.17923-4T>A667DSTUncertain significance-1RCV002636879; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639136956391369NC_000006.11:g.56391369A>T-
NM_001374736.1(DST):c.17923-10A>G667DSTBenign/Likely benignrs116504133RCV000979020|RCV001541838; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656391375563913756:g.56391375T>C-
NM_001374736.1(DST):c.17923-19C>G667DSTUncertain significance-1RCV003077789; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639138456391384NC_000006.11:g.56391384G>C-
NM_001374736.1(DST):c.17923-20A>G667DSTUncertain significance-1RCV003080258; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639138556391385NC_000006.11:g.56391385T>C-
NM_001374736.1(DST):c.17922+9T>A667DSTLikely benign-1RCV003081460; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639228256392282NC_000006.11:g.56392282A>T-
NM_001374736.1(DST):c.17922+3A>G667DSTUncertain significancers370384005RCV001297856; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563922885639228856392288-
NM_001374736.1(DST):c.17922G>A (p.Lys5974=)667DSTUncertain significance-1RCV001979831; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563922915639229156392291-
NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala)667DSTConflicting interpretations of pathogenicity-1RCV002037357|RCV002343881; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236563923195639231956392319-
NM_001374736.1(DST):c.17889A>T (p.Gly5963=)667DSTUncertain significance-1RCV001982724; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563923245639232456392324-
NM_001374736.1(DST):c.17880T>G (p.Val5960=)667DSTLikely benign-1RCV002158004; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563923335639233356392333-
NM_001374736.1(DST):c.17873C>T (p.Thr5958Ile)667DSTUncertain significance-1RCV002598924; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639234056392340NC_000006.11:g.56392340G>A-
NM_001374736.1(DST):c.17856A>G (p.Glu5952_Leu5953=)667DSTUncertain significance-1RCV003077062; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639235756392357NC_000006.11:g.56392357T>C-
NM_001374736.1(DST):c.17831C>T (p.Thr5944Ile)667DSTUncertain significance-1RCV002022639; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563923825639238256392382-
NM_001374736.1(DST):c.17830A>G (p.Thr5944Ala)667DSTUncertain significancers1252419878RCV001245919; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656392383563923836:g.56392383T>C-
NM_001374736.1(DST):c.17828G>A (p.Cys5943Tyr)667DSTUncertain significance-1RCV001919207; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563923855639238556392385-
NM_001374736.1(DST):c.17818G>A (p.Glu5940Lys)667DSTUncertain significance-1RCV003081448; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639239556392395NC_000006.11:g.56392395C>T-
NM_001374736.1(DST):c.17817C>T (p.His5939=)667DSTLikely benign-1RCV001431537; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563923965639239656392396-
NM_001374736.1(DST):c.17807A>G (p.His5936Arg)667DSTUncertain significance-1RCV002046713; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563924065639240656392406-
NM_001374736.1(DST):c.17804T>A (p.Leu5935Gln)667DSTUncertain significancers763300533RCV001239233|RCV001507672|RCV002339663; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202|MeSH:D030342,MedGen:C0950123656392409563924096:g.56392409A>T-
NM_001374736.1(DST):c.17803C>A (p.Leu5935Met)667DSTUncertain significance-1RCV002681219; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639241056392410NC_000006.11:g.56392410G>T-
NM_001374736.1(DST):c.17801G>A (p.Arg5934Gln)667DSTUncertain significancers537793986RCV001240069|RCV002451583; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656392412563924126:g.56392412C>T-
NM_001374736.1(DST):c.17800C>T (p.Arg5934Trp)667DSTUncertain significance-1RCV001866996; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563924135639241356392413-
NM_001374736.1(DST):c.17784G>A (p.Ala5928=)667DSTLikely benign-1RCV001405653; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563924295639242956392429-
NM_001374736.1(DST):c.17783C>T (p.Ala5928Val)667DSTUncertain significancers764588106RCV001297622|RCV002460140; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563924305639243056392430-
NM_001374736.1(DST):c.17773C>G (p.Leu5925Val)667DSTUncertain significance-1RCV001990176|RCV002458876; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236563924405639244056392440-
NM_001374736.1(DST):c.17772T>A (p.Thr5924=)667DSTLikely benign-1RCV002145652; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563924415639244156392441-
NM_001374736.1(DST):c.17764G>A (p.Ala5922Thr)667DSTUncertain significance-1RCV001795519|RCV002034653; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563924495639244956392449-
NM_001374736.1(DST):c.17740A>G (p.Ile5914Val)667DSTUncertain significance-1RCV003044970; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639247356392473NC_000006.11:g.56392473T>C-
NM_001374736.1(DST):c.17730G>A (p.Arg5910=)667DSTLikely benign-1RCV001474916; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563924835639248356392483-
NM_001374736.1(DST):c.17696T>C (p.Ile5899Thr)667DSTUncertain significance-1RCV002026256; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563925175639251756392517-
NM_001374736.1(DST):c.17683G>C (p.Asp5895His)667DSTUncertain significance-1RCV001864475; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563925305639253056392530-
NM_001374736.1(DST):c.17681-19C>T667DSTLikely benign-1RCV002098580; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563925515639255156392551-
NM_001374736.1(DST):c.17680+9T>C667DSTUncertain significance-1RCV002790609; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639363056393630NC_000006.11:g.56393630A>G-
NM_001374736.1(DST):c.17680+6A>T667DSTUncertain significance-1RCV003074494; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639363356393633NC_000006.11:g.56393633T>A-
NM_001374736.1(DST):c.17671C>G (p.Gln5891Glu)667DSTUncertain significancers757060967RCV001338338; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563936485639364856393648-
NM_001374736.1(DST):c.17658A>G (p.Leu5886=)667DSTLikely benign-1RCV002178278; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563936615639366156393661-
NM_001374736.1(DST):c.17645T>C (p.Leu5882Ser)667DSTUncertain significancers2096847724RCV001246726; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656393674563936746:g.56393674A>G-
NM_001374736.1(DST):c.17627A>G (p.Gln5876Arg)667DSTUncertain significance-1RCV001879108; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563936925639369256393692-
NM_001374736.1(DST):c.17603A>C (p.Gln5868Pro)667DSTUncertain significancers769166134RCV001343807; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563937165639371656393716-
NM_001374736.1(DST):c.17601G>T (p.Leu5867=)667DSTLikely benign-1RCV002141733; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563937185639371856393718-
NM_001374736.1(DST):c.17596-11T>C667DSTLikely benign-1RCV002146407; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563937345639373456393734-
NM_001374736.1(DST):c.17596-15T>C667DSTLikely benign-1RCV002212775; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563937385639373856393738-
NM_001374736.1(DST):c.17595+1G>A667DSTLikely pathogenicrs2096858510RCV001243780; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656394245563942456:g.56394245C>T-
NM_001374736.1(DST):c.17595G>C (p.Arg5865=)667DSTUncertain significancers2096858541RCV001346795; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563942465639424656394246-
NM_001374736.1(DST):c.17594G>A (p.Arg5865Gln)667DSTUncertain significance-1RCV002619043; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639424756394247NC_000006.11:g.56394247C>T-
NM_001374736.1(DST):c.17593C>T (p.Arg5865Trp)667DSTUncertain significancers766911461RCV001298114; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563942485639424856394248-
NM_001374736.1(DST):c.17582A>G (p.Gln5861Arg)667DSTUncertain significance-1RCV001945287; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563942595639425956394259-
NM_001374736.1(DST):c.17579A>C (p.Gln5860Pro)667DSTUncertain significance-1RCV003048963; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639426256394262NC_000006.11:g.56394262T>G-
NM_001374736.1(DST):c.17577G>A (p.Lys5859=)667DSTLikely benign-1RCV002138608; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563942645639426456394264-
NM_001374736.1(DST):c.17568G>A (p.Gly5856=)667DSTLikely benign-1RCV001475184; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563942735639427356394273-
NM_001374736.1(DST):c.17555A>G (p.Tyr5852Cys)667DSTUncertain significancers757046386RCV001245507; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656394286563942866:g.56394286T>C-
NM_001374736.1(DST):c.17552A>G (p.Asp5851Gly)667DSTUncertain significance-1RCV002814812; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639428956394289NC_000006.11:g.56394289T>C-
NM_001374736.1(DST):c.17551G>T (p.Asp5851Tyr)667DSTUncertain significancers180773742RCV001243701; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656394290563942906:g.56394290C>A-
NM_001374736.1(DST):c.17551G>A (p.Asp5851Asn)667DSTUncertain significance-1RCV002021227; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563942905639429056394290-
NM_001374736.1(DST):c.17547C>T (p.Val5849=)667DSTLikely benign-1RCV001474380; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563942945639429456394294-
NM_001374736.1(DST):c.17527A>G (p.Lys5843Glu)667DSTUncertain significance-1RCV002993776; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639431456394314NC_000006.11:g.56394314T>C-
NM_001374736.1(DST):c.17522A>C (p.His5841Pro)667DSTUncertain significancers758568001RCV001294790; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563943195639431956394319-
NM_001374736.1(DST):c.17522A>T (p.His5841Leu)667DSTLikely benign-1RCV001438228; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563943195639431956394319-
NM_001374736.1(DST):c.17520G>A (p.Val5840=)667DSTLikely benign-1RCV001457904; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563943215639432156394321-
NM_001374736.1(DST):c.17519T>G (p.Val5840Gly)667DSTUncertain significance-1RCV001948839; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563943225639432256394322-
NM_001374736.1(DST):c.17505C>T (p.Asn5835=)667DSTLikely benign-1RCV002096387; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563943365639433656394336-
NM_001374736.1(DST):c.17504A>G (p.Asn5835Ser)667DSTUncertain significance-1RCV002439637|RCV003102197; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563943375639433756394337-
NM_001374736.1(DST):c.17498T>C (p.Leu5833Pro)667DSTUncertain significance-1RCV002746225; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639434356394343NC_000006.11:g.56394343A>G-
NM_001374736.1(DST):c.17496A>C (p.Glu5832Asp)667DSTUncertain significancers773757881RCV001319752; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563943455639434556394345-
NM_001374736.1(DST):c.17489A>C (p.Glu5830Ala)667DSTUncertain significancers373654920RCV001308753; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563943525639435256394352-
NM_001374736.1(DST):c.17478T>C (p.Phe5826_Gly5827=)667DSTUncertain significance-1RCV003065505; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639436356394363NC_000006.11:g.56394363A>G-
NM_001374736.1(DST):c.17478T>G (p.Phe5826Leu)667DSTUncertain significance-1RCV002801032; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639436356394363NC_000006.11:g.56394363A>C-
NM_001374736.1(DST):c.17472G>A (p.Lys5824_Ile5825=)667DSTUncertain significance-1RCV002582419; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639436956394369NC_000006.11:g.56394369C>T-
NM_001374736.1(DST):c.17452C>T (p.Gln5818Ter)667DSTPathogenic-1RCV002927366; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639438956394389NC_000006.11:g.56394389G>A-
NM_001374736.1(DST):c.17450A>G (p.Gln5817Arg)667DSTUncertain significancers761791970RCV001245163|RCV002430039; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656394391563943916:g.56394391T>C-
NM_001374736.1(DST):c.17450A>T (p.Gln5817Leu)667DSTUncertain significance-1RCV001903848; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563943915639439156394391-
NM_001374736.1(DST):c.17443C>A (p.Leu5815Ile)667DSTUncertain significancers750180346RCV001298746|RCV002451662; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563943985639439856394398-
NM_001374736.1(DST):c.17428C>T (p.His5810Tyr)667DSTUncertain significance-1RCV003061391; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639441356394413NC_000006.11:g.56394413G>A-
NM_001374736.1(DST):c.17403G>T (p.Trp5801Cys)667DSTUncertain significance-1RCV002851357; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639443856394438NC_000006.11:g.56394438C>A-
NM_001374736.1(DST):c.17397A>C (p.Gln5799His)667DSTUncertain significance-1RCV001872772; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563944445639444456394444-
NM_001374736.1(DST):c.17386G>A (p.Asp5796Asn)667DSTUncertain significancers186699708RCV001246802; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656394455563944556:g.56394455C>T-
NM_001374736.1(DST):c.17385A>G (p.Leu5795=)667DSTLikely benign-1RCV002102415; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563944565639445656394456-
NM_001374736.1(DST):c.17378G>A (p.Ser5793Asn)667DSTUncertain significancers369521830RCV001241063; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656394463563944636:g.56394463C>T-
NM_001374736.1(DST):c.17365G>A (p.Asp5789Asn)667DSTUncertain significance-1RCV001910818; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563944765639447656394476-
NM_001374736.1(DST):c.17340G>A (p.Lys5780=)667DSTLikely benign-1RCV001417146|RCV002292637; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN5172026563945015639450156394501-
NM_001374736.1(DST):c.17326G>C (p.Gly5776Arg)667DSTUncertain significance-1RCV002046481; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563945155639451556394515-
NM_001374736.1(DST):c.17310C>A (p.His5770Gln)667DSTUncertain significancers751772852RCV001295129|RCV002451651; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236563945315639453156394531-
NM_001374736.1(DST):c.17308C>T (p.His5770Tyr)667DSTUncertain significance-1RCV002017129; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563945335639453356394533-
NM_001374736.1(DST):c.17303A>G (p.His5768Arg)667DSTUncertain significancers755202054RCV001246192; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656394538563945386:g.56394538T>C-
NM_001374736.1(DST):c.17301A>C (p.Lys5767Asn)667DSTUncertain significance-1RCV002448457|RCV003101753; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563945405639454056394540-
NM_001374736.1(DST):c.17297A>G (p.Asn5766Ser)667DSTUncertain significance-1RCV002771267; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639454456394544NC_000006.11:g.56394544T>C-
NM_001374736.1(DST):c.17296A>G (p.Asn5766Asp)667DSTUncertain significance-1RCV002457689|RCV003101746; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563945455639454556394545-
NM_001374736.1(DST):c.17287A>G (p.Ile5763Val)667DSTUncertain significance-1RCV002448242|RCV003098811; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563945545639455456394554-
NM_001374736.1(DST):c.17280T>C (p.Asp5760=)667DSTLikely benign-1RCV001477059; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563945615639456156394561-
NM_001374736.1(DST):c.17269-3T>A667DSTUncertain significancers373884076RCV001245303|RCV002447216; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656394575563945756:g.56394575A>T-
NM_001374736.1(DST):c.17268+18C>T667DSTUncertain significance-1RCV003067919; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639475456394754NC_000006.11:g.56394754G>A-
NM_001374736.1(DST):c.17268+7T>C667DSTLikely benign-1RCV001494877; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563947655639476556394765-
NM_001374736.1(DST):c.17268+6A>G667DSTUncertain significancers2096867211RCV001243905; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656394766563947666:g.56394766T>C-
NM_001374736.1(DST):c.17259A>G (p.Ala5753_Gln5754=)667DSTUncertain significance-1RCV002676567; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639478156394781NC_000006.11:g.56394781T>C-
NM_001374736.1(DST):c.17257G>A (p.Ala5753Thr)667DSTUncertain significance-1RCV003081456; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639478356394783NC_000006.11:g.56394783C>T-
NM_001374736.1(DST):c.17251C>T (p.Gln5751Ter)667DSTPathogenicrs2096867388RCV001247971; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656394789563947896:g.56394789G>A-
NM_001374736.1(DST):c.17235A>G (p.Ala5745=)667DSTLikely benign-1RCV001405652; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563948055639480556394805-
NM_001374736.1(DST):c.17234C>T (p.Ala5745Val)667DSTUncertain significancers1562586282RCV001246462|RCV002430044; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656394806563948066:g.56394806G>A-
NM_001374736.1(DST):c.17232A>C (p.Gln5744His)667DSTUncertain significancers1156755669RCV001244814; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656394808563948086:g.56394808T>G-
NM_001374736.1(DST):c.17220C>T (p.Pro5740=)667DSTLikely benign-1RCV001498124; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563948205639482056394820-
NM_001374736.1(DST):c.17198A>G (p.Lys5733Arg)667DSTUncertain significance-1RCV002614208; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639484256394842NC_000006.11:g.56394842T>C-
NM_001374736.1(DST):c.17190C>T (p.Thr5730_Ile5731=)667DSTLikely benign-1RCV002890370; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639485056394850NC_000006.11:g.56394850G>A-
NM_001374736.1(DST):c.17176G>A (p.Glu5726Lys)667DSTUncertain significancers774345974RCV001243903; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656394864563948646:g.56394864C>T-
NM_001374736.1(DST):c.17158A>G (p.Thr5720Ala)667DSTUncertain significancers761029398RCV001340947; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563948825639488256394882-
NM_001374736.1(DST):c.17157A>G (p.Glu5719=)667DSTLikely benign-1RCV001428971; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563948835639488356394883-
NM_001374736.1(DST):c.17153A>G (p.His5718Arg)667DSTUncertain significancers757364222RCV001239860; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656394887563948876:g.56394887T>C-
NM_001374736.1(DST):c.17147A>G (p.Gln5716Arg)667DSTUncertain significance-1RCV003013884; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639489356394893NC_000006.11:g.56394893T>C-
NM_001374736.1(DST):c.17143C>A (p.Gln5715Lys)667DSTUncertain significancers1562587802RCV001241128; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656394897563948976:g.56394897G>T-
NM_001374736.1(DST):c.17141C>T (p.Ala5714Val)667DSTUncertain significance-1RCV001974173; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563948995639489956394899-
NM_001374736.1(DST):c.17140G>A (p.Ala5714Thr)667DSTUncertain significancers1225545020RCV001240144; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656394900563949006:g.56394900C>T-
NM_001374736.1(DST):c.17137G>A (p.Val5713Ile)667DSTUncertain significance-1RCV003118590; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639490356394903NC_000006.11:g.56394903C>T-
NM_001374736.1(DST):c.17133G>A (p.Ser5711=)667DSTLikely benign-1RCV001503881; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563949075639490756394907-
NM_001374736.1(DST):c.17133G>T (p.Ser5711=)667DSTLikely benign-1RCV002094607; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563949075639490756394907-
NM_001374736.1(DST):c.17128A>G (p.Ile5710Val)667DSTUncertain significance-1RCV002029303; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563949125639491256394912-
NM_001374736.1(DST):c.17123A>G (p.Glu5708Gly)667DSTUncertain significancers894146699RCV001239858; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656394917563949176:g.56394917T>C-
NM_001374736.1(DST):c.17113C>T (p.Arg5705Cys)667DSTUncertain significancers979136179RCV001241061; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656394927563949276:g.56394927G>A-
NM_001374736.1(DST):c.17109-9C>T667DSTLikely benign-1RCV001503851; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563949405639494056394940-
NM_001374736.1(DST):c.17109-12G>A667DSTLikely benign-1RCV002179434; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563949435639494356394943-
NM_001374736.1(DST):c.17108+10A>G667DSTBenignrs191140581RCV000979022|RCV001729774; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656397132563971326:g.56397132T>C-
NM_001374736.1(DST):c.17108+9T>C667DSTLikely benign-1RCV001494879; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563971335639713356397133-
NM_001374736.1(DST):c.17108+6T>C667DSTUncertain significancers375166905RCV001246649; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656397136563971366:g.56397136A>G-
NM_001374736.1(DST):c.17105C>T (p.Thr5702Ile)667DSTUncertain significance-1RCV001913819; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563971455639714556397145-
NM_001374736.1(DST):c.17102A>C (p.Glu5701Ala)667DSTUncertain significance-1RCV003048378; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639714856397148NC_000006.11:g.56397148T>G-
NM_001374736.1(DST):c.17086T>C (p.Leu5696=)667DSTLikely benign-1RCV001457427; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563971645639716456397164-
NM_001374736.1(DST):c.17082G>A (p.Glu5694=)667DSTLikely benign-1RCV001502483; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563971685639716856397168-
NM_001374736.1(DST):c.17070T>C (p.Asp5690=)667DSTLikely benign-1RCV001393321; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563971805639718056397180-
NM_001374736.1(DST):c.17067G>A (p.Leu5689_Asp5690=)667DSTUncertain significance-1RCV002592466; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639718356397183NC_000006.11:g.56397183C>T-
NM_001374736.1(DST):c.17044A>G (p.Ile5682Val)667DSTUncertain significance-1RCV001928127; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563972065639720656397206-
NM_001374736.1(DST):c.17030C>T (p.Ala5677Val)667DSTBenignrs145976321RCV000979021|RCV001597237; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656397220563972206:g.56397220G>A-
NM_001374736.1(DST):c.17029G>A (p.Ala5677Thr)667DSTUncertain significance-1RCV003068855; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639722156397221NC_000006.11:g.56397221C>T-
NM_001374736.1(DST):c.17028C>G (p.Pro5676=)667DSTLikely benign-1RCV002214822; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563972225639722256397222-
NM_001374736.1(DST):c.17028C>T (p.Pro5676_Ala5677=)667DSTLikely benign-1RCV003118891; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639722256397222NC_000006.11:g.56397222G>A-
NM_001374736.1(DST):c.17014A>G (p.Thr5672Ala)667DSTUncertain significance-1RCV002603212; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639723656397236NC_000006.11:g.56397236T>C-
NM_001374736.1(DST):c.17011G>A (p.Ala5671Thr)667DSTUncertain significancers1584257296RCV001350101; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563972395639723956397239-
NM_001374736.1(DST):c.17007A>T (p.Lys5669Asn)667DSTUncertain significance-1RCV003091515; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639724356397243NC_000006.11:g.56397243T>A-
NM_001374736.1(DST):c.16977G>A (p.Thr5659=)667DSTLikely benign-1RCV001467257; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563972735639727356397273-
NM_001374736.1(DST):c.16967G>A (p.Arg5656Gln)667DSTConflicting interpretations of pathogenicityrs116774070RCV000998630|RCV001449325|RCV002400175; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656397283563972836:g.56397283C>T-
NM_001374736.1(DST):c.16966C>G (p.Arg5656Gly)667DSTUncertain significance-1RCV003077793; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639728456397284NC_000006.11:g.56397284G>C-
NM_001374736.1(DST):c.16956G>T (p.Leu5652Phe)667DSTUncertain significancers371645175RCV001248336; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656397294563972946:g.56397294C>A-
NM_001374736.1(DST):c.16956G>A (p.Leu5652=)667DSTLikely benign-1RCV001478760; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563972945639729456397294-
NM_001374736.1(DST):c.16942-10T>C667DSTLikely benign-1RCV001463791; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563973185639731856397318-
NM_001374736.1(DST):c.16941+9G>T667DSTLikely benign-1RCV002215863; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563999115639991156399911-
NM_001374736.1(DST):c.16941+4A>G667DSTUncertain significancers76350521RCV001242387; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656399916563999166:g.56399916T>C-
NM_001374736.1(DST):c.16932del (p.Glu5645fs)667DSTPathogenic-1RCV002814985; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165639992956399929NC_000006.11:g.56399930del-
NM_001374736.1(DST):c.16922C>T (p.Ala5641Val)667DSTUncertain significancers768150254RCV000998631|RCV001243637|RCV002400176; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656399939563999396:g.56399939G>A-
NM_001374736.1(DST):c.16914G>A (p.Val5638=)667DSTLikely benign-1RCV001483484; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563999475639994756399947-
NM_001374736.1(DST):c.16897T>G (p.Ser5633Ala)667DSTUncertain significance-1RCV003016951; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165639996456399964NC_000006.11:g.56399964A>C-
NM_001374736.1(DST):c.16895C>T (p.Pro5632Leu)667DSTUncertain significancers1178200177RCV001347358; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816563999665639996656399966-
NM_001374736.1(DST):c.16889A>G (p.Lys5630Arg)667DSTUncertain significancers1236590396RCV001318470; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563999725639997256399972-
NM_001374736.1(DST):c.16883A>C (p.Asn5628Thr)667DSTUncertain significance-1RCV001904004; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816563999785639997856399978-
NM_001374736.1(DST):c.16859T>C (p.Val5620Ala)667DSTUncertain significancers200036988RCV001296004; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564000025640000256400002-
NM_001374736.1(DST):c.16858del (p.Val5620fs)667DSTPathogenicrs1584328172RCV000824024; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656400003564000036:g.56400003_56400003del-
NM_001374736.1(DST):c.16858G>A (p.Val5620Met)667DSTUncertain significancers371837412RCV001245651; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656400003564000036:g.56400003C>T-
NM_001374736.1(DST):c.16857G>A (p.Met5619Ile)667DSTUncertain significance-1RCV002042208|RCV002397776; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236564000045640000456400004-
NM_001374736.1(DST):c.16848C>T (p.Leu5616_Ser5617=)667DSTUncertain significance-1RCV002662499; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165640001356400013NC_000006.11:g.56400013G>A-
NM_001374736.1(DST):c.16830T>A (p.Asp5610Glu)667DSTUncertain significance-1RCV003042870; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640003156400031NC_000006.11:g.56400031A>T-
NM_001374736.1(DST):c.16824C>G (p.Phe5608Leu)667DSTUncertain significance-1RCV001361894; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564000375640003756400037-
NM_001374736.1(DST):c.16814G>C (p.Cys5605Ser)667DSTUncertain significancers1198301994RCV001240212; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656400047564000476:g.56400047C>G-
NM_001374736.1(DST):c.16814G>A (p.Cys5605Tyr)667DSTUncertain significance-1RCV001896125; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564000475640004756400047-
NM_001374736.1(DST):c.16799A>G (p.Glu5600Gly)667DSTUncertain significance-1RCV001870083; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564000625640006256400062-
NM_001374736.1(DST):c.16788C>T (p.Ala5596=)667DSTLikely benign-1RCV001479846; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564000735640007356400073-
NM_001374736.1(DST):c.16786G>A (p.Ala5596Thr)667DSTUncertain significancers2096973219RCV001240991; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656400075564000756:g.56400075C>T-
NM_001374736.1(DST):c.16781G>A (p.Arg5594Gln)667DSTUncertain significancers766153258RCV001316610; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564000805640008056400080-
NM_001374736.1(DST):c.16780C>T (p.Arg5594Ter)667DSTPathogenic-1RCV001386390; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564000815640008156400081-
NM_001374736.1(DST):c.16772T>C (p.Val5591Ala)667DSTUncertain significance-1RCV001937861; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564000895640008956400089-
NM_001374736.1(DST):c.16771-11G>A667DSTLikely benign-1RCV002156484; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564001015640010156400101-
NM_001374736.1(DST):c.16770+17del667DSTBenign-1RCV002127746; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564015605640156056401559-
NM_001374736.1(DST):c.16770+11C>T667DSTLikely benign-1RCV001941663; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564015665640156656401566-
NM_001374736.1(DST):c.16770+9C>G667DSTLikely benign-1RCV002164834; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564015685640156856401568-
NM_001374736.1(DST):c.16770+8T>A667DSTUncertain significance-1RCV003055354; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640156956401569NC_000006.11:g.56401569A>T-
NM_001374736.1(DST):c.16770+5T>C667DSTUncertain significance-1RCV001362114|RCV002395803; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236564015725640157256401572-
NM_001374736.1(DST):c.16763A>G (p.Asn5588Ser)667DSTUncertain significance-1RCV001366281; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564015845640158456401584-
NM_001374736.1(DST):c.16748G>A (p.Arg5583Gln)667DSTUncertain significancers762460799RCV001244751|RCV002393646; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656401599564015996:g.56401599C>T-
NM_001374736.1(DST):c.16747C>T (p.Arg5583Trp)667DSTUncertain significancers568055144RCV001248337|RCV001311721; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202656401600564016006:g.56401600G>A-
NM_001374736.1(DST):c.16742A>G (p.Asn5581Ser)667DSTUncertain significancers201488187RCV001243842|RCV002393641; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656401605564016056:g.56401605T>C-
NM_001374736.1(DST):c.16703C>T (p.Thr5568Ile)667DSTUncertain significance-1RCV003087039; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640164456401644NC_000006.11:g.56401644G>A-
NM_001374736.1(DST):c.16701C>T (p.Ser5567=)667DSTLikely benign-1RCV001417331; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564016465640164656401646-
NM_001374736.1(DST):c.16656T>C (p.Asp5552=)667DSTLikely benign-1RCV001436429; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564016915640169156401691-
NM_001374736.1(DST):c.16653A>C (p.Gln5551His)667DSTLikely benign-1RCV002198283|RCV002382465; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236564016945640169456401694-
NM_001374736.1(DST):c.16634C>A (p.Pro5545His)667DSTUncertain significancers776611722RCV001312948|RCV002384389; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236564017135640171356401713-
NM_001374736.1(DST):c.16609G>T (p.Val5537Leu)667DSTUncertain significancers199836343RCV001243166; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656401738564017386:g.56401738C>A-
NM_001374736.1(DST):c.16609-1G>T667DSTConflicting interpretations of pathogenicity-1RCV001979595|RCV002569259; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236564017395640173956401739-
NM_001374736.1(DST):c.16609-7A>C667DSTLikely benign-1RCV001478273; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564017455640174556401745-
NM_001374736.1(DST):c.16609-9dup667DSTBenign-1RCV002580833; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165640174656401747NC_000006.11:g.56401750dup-
NM_001374736.1(DST):c.16609-14T>C667DSTLikely benign-1RCV002117534; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564017525640175256401752-
NM_001374736.1(DST):c.16608+15A>G667DSTLikely benign-1RCV002137504; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564169675641696756416967-
NM_001374736.1(DST):c.16608+13T>C667DSTBenign-1RCV002086782; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564169695641696956416969-
NM_001374736.1(DST):c.16608+1G>A667DSTLikely pathogenic-1RCV002026258; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564169815641698156416981-
NM_001374736.1(DST):c.16592A>T (p.Gln5531Leu)667DSTUncertain significancers756517173RCV001243368; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656416998564169986:g.56416998T>A-
NM_001374736.1(DST):c.16584T>G (p.Ile5528Met)667DSTUncertain significance-1RCV002828393; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641700656417006NC_000006.11:g.56417006A>C-
NM_001374736.1(DST):c.16579A>G (p.Thr5527Ala)667DSTUncertain significancers1350777647RCV001320750; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564170115641701156417011-
NM_001374736.1(DST):c.16575G>A (p.Thr5525_Glu5526=)667DSTBenignrs188035465RCV000979592; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656417015564170156:g.56417015C>T-
NM_001374736.1(DST):c.16574C>T (p.Thr5525Met)667DSTUncertain significancers756527130RCV001244421|RCV002411901; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656417016564170166:g.56417016G>A-
NM_001374736.1(DST):c.16572A>G (p.Glu5524=)667DSTLikely benign-1RCV001400373; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564170185641701856417018-
NM_001374736.1(DST):c.16565G>A (p.Gly5522Asp)667DSTUncertain significance-1RCV001928882; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564170255641702556417025-
NM_001374736.1(DST):c.16562T>G (p.Val5521Gly)667DSTUncertain significancers746708808RCV000819971; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656417028564170286:g.56417028A>C-
NM_001374736.1(DST):c.16540C>G (p.His5514Asp)667DSTUncertain significance-1RCV001949889; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564170505641705056417050-
NM_001374736.1(DST):c.16534G>A (p.Glu5512Lys)667DSTUncertain significancers375888742RCV001245162|RCV002348833; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656417056564170566:g.56417056C>T-
NM_001374736.1(DST):c.16533C>T (p.Ala5511=)667DSTLikely benign-1RCV002156179; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564170575641705756417057-
NM_001374736.1(DST):c.16498A>C (p.Lys5500Gln)667DSTUncertain significance-1RCV002001256; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564170925641709256417092-
NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys)667DSTConflicting interpretations of pathogenicityrs180765536RCV000979078|RCV002354876; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656417095564170956:g.56417095T>A-
NM_001374736.1(DST):c.16478G>A (p.Arg5493His)667DSTUncertain significancers754436072RCV001247704; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656417112564171126:g.56417112C>T-
NM_001374736.1(DST):c.16477C>T (p.Arg5493Cys)667DSTUncertain significancers186499004RCV001242954|RCV002451591; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656417113564171136:g.56417113G>A-
NM_001374736.1(DST):c.16471A>G (p.Ile5491Val)667DSTUncertain significancers754589018RCV001239512|RCV002447192; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656417119564171196:g.56417119T>C-
NM_001374736.1(DST):c.16465G>A (p.Gly5489Arg)667DSTUncertain significance-1RCV001359633|RCV002447453; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236564171255641712556417125-
NM_001374736.1(DST):c.16464A>C (p.Glu5488Asp)667DSTUncertain significancers2097339072RCV001241534; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656417126564171266:g.56417126T>G-
NM_001374736.1(DST):c.16436G>A (p.Arg5479Gln)667DSTUncertain significance-1RCV002600955; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641715456417154NC_000006.11:g.56417154C>T-
NM_001374736.1(DST):c.16435C>T (p.Arg5479Ter)667DSTPathogenic-1RCV001918214; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564171555641715556417155-
NM_001374736.1(DST):c.16434C>T (p.Asp5478_Arg5479=)667DSTUncertain significance-1RCV003066044; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641715656417156NC_000006.11:g.56417156G>A-
NM_001374736.1(DST):c.16428A>G (p.Leu5476_Leu5477=)667DSTLikely benign-1RCV002603245; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641716256417162NC_000006.11:g.56417162T>C-
NM_001374736.1(DST):c.16409G>A (p.Ser5470Asn)667DSTUncertain significance-1RCV002047389; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564171815641718156417181-
NM_001374736.1(DST):c.16401G>A (p.Glu5467=)667DSTLikely benign-1RCV001490266; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564171895641718956417189-
NM_001374736.1(DST):c.16398G>A (p.Leu5466=)667DSTBenign-1RCV001514394|RCV001712921; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN5172026564171925641719256417192-
NM_001374736.1(DST):c.16392G>A (p.Arg5464=)667DSTLikely benign-1RCV001493593; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564171985641719856417198-
NM_001374736.1(DST):c.16377T>C (p.Leu5459=)667DSTLikely benign-1RCV001484815; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564172135641721356417213-
NM_001374736.1(DST):c.16365C>T (p.Thr5455=)667DSTLikely benign-1RCV001418541; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564172255641722556417225-
NM_001374736.1(DST):c.16363A>T (p.Thr5455Ser)667DSTUncertain significancers1348429203RCV001242565; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656417227564172276:g.56417227T>A-
NM_001374736.1(DST):c.16342A>G (p.Met5448Val)667DSTUncertain significancers202185251RCV001248188|RCV002379949; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656417248564172486:g.56417248T>C-
NM_001374736.1(DST):c.16328A>G (p.Asn5443Ser)667DSTUncertain significance-1RCV002038304; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564172625641726256417262-
NM_001374736.1(DST):c.16324G>A (p.Ala5442Thr)667DSTUncertain significance-1RCV001359110; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564172665641726656417266-
NM_001374736.1(DST):c.16323T>C (p.Asn5441=)667DSTBenign-1RCV001521193; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564172675641726756417267-
NM_001374736.1(DST):c.16314C>G (p.Ser5438Arg)667DSTUncertain significancers750722953RCV001323598|RCV002384429; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236564172765641727656417276-
NM_001374736.1(DST):c.16308G>A (p.Met5436Ile)667DSTBenignrs4715630RCV000603185|RCV001510448|RCV001692226|RCV001662662|RCV001701394; NMONDO: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|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:6154656417282564172826:g.56417282C>TClinGen:CA3867697C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.16306A>T (p.Met5436Leu)667DSTUncertain significance-1RCV001363291; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564172845641728456417284-
NM_001374736.1(DST):c.16306A>C (p.Met5436Leu)667DSTUncertain significance-1RCV001986467; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564172845641728456417284-
NM_001374736.1(DST):c.16304T>C (p.Leu5435Pro)667DSTUncertain significance-1RCV001996814; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564172865641728656417286-
NM_001374736.1(DST):c.16298A>G (p.Glu5433Gly)667DSTUncertain significancers1275382438RCV001348816; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564172925641729256417292-
NM_001374736.1(DST):c.16290G>T (p.Lys5430Asn)667DSTUncertain significance-1RCV002904504; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641730056417300NC_000006.11:g.56417300C>A-
NM_001374736.1(DST):c.16236G>A (p.Gly5412=)667DSTLikely benign-1RCV001392407; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564173545641735456417354-
NM_001374736.1(DST):c.16235G>A (p.Gly5412Glu)667DSTUncertain significancers775546048RCV001320133; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564173555641735556417355-
NM_001374736.1(DST):c.16233G>C (p.Val5411=)667DSTLikely benign-1RCV001481965; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564173575641735756417357-
NM_001374736.1(DST):c.16221C>A (p.Ser5407Arg)667DSTUncertain significance-1RCV001369577; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564173695641736956417369-
NM_001374736.1(DST):c.16195G>A (p.Ala5399Thr)667DSTUncertain significancers553940584RCV001245229; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656417395564173956:g.56417395C>T-
NM_001374736.1(DST):c.16195G>T (p.Ala5399Ser)667DSTUncertain significancers553940584RCV001349226; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564173955641739556417395-
NM_001374736.1(DST):c.16194C>T (p.Phe5398=)667DSTLikely benign-1RCV001483486; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564173965641739656417396-
NM_001374736.1(DST):c.16189C>A (p.Gln5397Lys)667DSTUncertain significance-1RCV003014068; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641740156417401NC_000006.11:g.56417401G>T-
NM_001374736.1(DST):c.16179A>G (p.Glu5393=)667DSTLikely benign-1RCV002103722; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564174115641741156417411-
NM_001374736.1(DST):c.16175G>A (p.Arg5392Gln)667DSTUncertain significancers201501487RCV001245025|RCV002375297; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656417415564174156:g.56417415C>T-
NM_001374736.1(DST):c.16174C>G (p.Arg5392Gly)667DSTUncertain significancers755738894RCV001246992; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656417416564174166:g.56417416G>C-
NM_001374736.1(DST):c.16174C>T (p.Arg5392Ter)667DSTPathogenic-1RCV001950928; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564174165641741656417416-
NM_001374736.1(DST):c.16169C>T (p.Thr5390Ile)667DSTUncertain significance-1RCV001962446; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564174215641742156417421-
NM_001374736.1(DST):c.16148G>A (p.Gly5383Asp)667DSTUncertain significancers1489999843RCV001320078; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564174425641744256417442-
NM_001374736.1(DST):c.16116A>G (p.Glu5372=)667DSTLikely benign-1RCV002210567; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564174745641747456417474-
NM_001374736.1(DST):c.16107G>A (p.Gln5369_Val5370=)667DSTLikely benign-1RCV003013658; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641748356417483NC_000006.11:g.56417483C>T-
NM_001374736.1(DST):c.16088A>G (p.His5363Arg)667DSTUncertain significance-1RCV001992856; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564175025641750256417502-
NM_001374736.1(DST):c.16078G>A (p.Ala5360Thr)667DSTUncertain significancers779849952RCV001245916; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656417512564175126:g.56417512C>T-
NM_001374736.1(DST):c.16070A>G (p.Glu5357Gly)667DSTUncertain significance-1RCV002008241; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564175205641752056417520-
NM_001374736.1(DST):c.16065A>G (p.Gln5355=)667DSTLikely benign-1RCV001469378; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564175255641752556417525-
NM_001374736.1(DST):c.16059A>T (p.Leu5353Phe)667DSTUncertain significance-1RCV001892887|RCV002370457; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236564175315641753156417531-
NM_001374736.1(DST):c.16054G>A (p.Val5352Ile)667DSTUncertain significance-1RCV003019715; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641753656417536NC_000006.11:g.56417536C>T-
NM_001374736.1(DST):c.16052A>C (p.Asp5351Ala)667DSTUncertain significancers1287393894RCV001245368; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656417538564175386:g.56417538T>G-
NM_001374736.1(DST):c.16047C>G (p.Thr5349_Ser5350=)667DSTLikely benignrs370841140RCV000979752|RCV001726403; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656417543564175436:g.56417543G>C-
NM_001374736.1(DST):c.16047C>T (p.Thr5349_Ser5350=)667DSTUncertain significance-1RCV002611615; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641754356417543NC_000006.11:g.56417543G>A-
NM_001374736.1(DST):c.16045A>G (p.Thr5349Ala)667DSTBenignrs4715631RCV000608135|RCV001510449|RCV001662663|RCV001692227|RCV001701395; NMONDO: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|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412165641754556417545NC_000006.11:g.56417545T>CClinGen:CA3867736C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.16034A>G (p.Asp5345Gly)667DSTUncertain significancers749976441RCV001245721; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656417556564175566:g.56417556T>C-
NM_001374736.1(DST):c.16013A>G (p.Asp5338Gly)667DSTUncertain significance-1RCV003031181; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641757756417577NC_000006.11:g.56417577T>C-
NM_001374736.1(DST):c.16012G>C (p.Asp5338His)667DSTUncertain significance-1RCV003067739; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641757856417578NC_000006.11:g.56417578C>G-
NM_001374736.1(DST):c.16011G>C (p.Gln5337His)667DSTUncertain significance-1RCV002376508|RCV003094849; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564175795641757956417579-
NM_001374736.1(DST):c.16008A>C (p.Ala5336=)667DSTLikely benign-1RCV001502908; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564175825641758256417582-
NM_001374736.1(DST):c.15962C>T (p.Ser5321Leu)667DSTUncertain significance-1RCV002851044; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641762856417628NC_000006.11:g.56417628G>A-
NM_001374736.1(DST):c.15941T>G (p.Met5314Arg)667DSTUncertain significancers1325893287RCV001313692; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564176495641764956417649-
NM_001374736.1(DST):c.15938C>T (p.Thr5313Ile)667DSTUncertain significance-1RCV002374335|RCV003094833; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564176525641765256417652-
NM_001374736.1(DST):c.15915G>C (p.Gln5305His)667DSTUncertain significance-1RCV003068895; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641767556417675NC_000006.11:g.56417675C>G-
NM_001374736.1(DST):c.15903G>T (p.Ser5301=)667DSTLikely benign-1RCV001417144; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564176875641768756417687-
NM_001374736.1(DST):c.15903G>A (p.Ser5301=)667DSTLikely benign-1RCV001443655; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564176875641768756417687-
NM_001374736.1(DST):c.15903G>C (p.Ser5301_Leu5302=)667DSTLikely benign-1RCV003081459; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641768756417687NC_000006.11:g.56417687C>G-
NM_001374736.1(DST):c.15902C>T (p.Ser5301Leu)667DSTUncertain significancers112177059RCV000488374|RCV001243783|RCV002376890; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656417688564176886:g.56417688G>AClinGen:CA3867760CN517202 not provided;
NM_001374736.1(DST):c.15898G>A (p.Asp5300Asn)667DSTUncertain significancers200661658RCV001298258; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564176925641769256417692-
NM_001374736.1(DST):c.15897T>C (p.His5299=)667DSTLikely benign-1RCV001451341; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564176935641769356417693-
NM_001374736.1(DST):c.15888A>G (p.Leu5296=)667DSTLikely benign-1RCV001431514; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564177025641770256417702-
NM_001374736.1(DST):c.15880G>A (p.Glu5294Lys)667DSTUncertain significance-1RCV001871245; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564177105641771056417710-
NM_001374736.1(DST):c.15877A>G (p.Lys5293Glu)667DSTUncertain significancers888556461RCV001241123; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656417713564177136:g.56417713T>C-
NM_001374736.1(DST):c.15872G>A (p.Cys5291Tyr)667DSTUncertain significance-1RCV001940068; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564177185641771856417718-
NM_001374736.1(DST):c.15861G>A (p.Arg5287_Gln5288=)667DSTBenignrs58928900RCV000979007|RCV001712830; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656417729564177296:g.56417729C>T-
NM_001374736.1(DST):c.15854C>T (p.Ser5285Phe)667DSTUncertain significance-1RCV001918544; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564177365641773656417736-
NM_001374736.1(DST):c.15836AAG[1] (p.Glu5280del)667DSTUncertain significancers1233181836RCV001243843; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656417749564177516:g.56417749_56417751del-
NM_001374736.1(DST):c.15836A>G (p.Gln5279Arg)667DSTUncertain significance-1RCV001928532; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564177545641775456417754-
NM_001374736.1(DST):c.15825T>C (p.Phe5275=)667DSTLikely benign-1RCV001405650; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564177655641776556417765-
NM_001374736.1(DST):c.15807G>C (p.Glu5269Asp)667DSTUncertain significance-1RCV002587247; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641778356417783NC_000006.11:g.56417783C>G-
NM_001374736.1(DST):c.15804G>A (p.Leu5268=)667DSTLikely benign-1RCV001395643; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564177865641778656417786-
NM_001374736.1(DST):c.15788G>A (p.Ser5263Asn)667DSTUncertain significancers374575683RCV001247836|RCV001508545|RCV002375303; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202|MeSH:D030342,MedGen:C0950123656417802564178026:g.56417802C>T-
NM_001374736.1(DST):c.15784C>T (p.His5262Tyr)667DSTUncertain significance-1RCV001928890|RCV002442873; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236564178065641780656417806-
NM_001374736.1(DST):c.15781C>A (p.Leu5261Ile)667DSTUncertain significancers762522099RCV001240405|RCV002375270; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656417809564178096:g.56417809G>T-
NM_001374736.1(DST):c.15766A>G (p.Met5256Val)667DSTUncertain significance-1RCV002041785; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564178245641782456417824-
NM_001374736.1(DST):c.15765C>T (p.Asp5255=)667DSTLikely benign-1RCV001467258; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564178255641782556417825-
NM_001374736.1(DST):c.15734A>T (p.Asp5245Val)667DSTUncertain significancers1248294838RCV001348840; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564178565641785656417856-
NM_001374736.1(DST):c.15714A>G (p.Ile5238Met)667DSTUncertain significance-1RCV002030640; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564178765641787656417876-
NM_001374736.1(DST):c.15711G>A (p.Glu5237=)667DSTLikely benign-1RCV001433295; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564178795641787956417879-
NM_001374736.1(DST):c.15709G>A (p.Glu5237Lys)667DSTUncertain significancers2097347589RCV001245230; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656417881564178816:g.56417881C>T-
NM_001374736.1(DST):c.15699C>T (p.Leu5233=)667DSTLikely benign-1RCV002209358; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564178915641789156417891-
NM_001374736.1(DST):c.15696G>A (p.Leu5232=)667DSTLikely benign-1RCV001413182; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564178945641789456417894-
NM_001374736.1(DST):c.15696G>C (p.Leu5232Phe)667DSTUncertain significance-1RCV002588072; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641789456417894NC_000006.11:g.56417894C>G-
NM_001374736.1(DST):c.15690T>C (p.Asn5230=)667DSTLikely benign-1RCV002163198; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564179005641790056417900-
NM_001374736.1(DST):c.15689A>G (p.Asn5230Ser)667DSTUncertain significance-1RCV002371642|RCV002469475|RCV003100147; NMeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564179015641790156417901-
NM_001374736.1(DST):c.15670T>G (p.Leu5224Val)667DSTUncertain significancers2097348097RCV001241252; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656417920564179206:g.56417920A>C-
NM_001374736.1(DST):c.15655T>A (p.Phe5219Ile)667DSTUncertain significance-1RCV002717336; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641793556417935NC_000006.11:g.56417935A>T-
NM_001374736.1(DST):c.15653A>C (p.His5218Pro)667DSTUncertain significancers2097348376RCV001247903; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656417937564179376:g.56417937T>G-
NM_001374736.1(DST):c.15624A>G (p.Leu5208=)667DSTLikely benign-1RCV002159430; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564179665641796656417966-
NM_001374736.1(DST):c.15602G>C (p.Gly5201Ala)667DSTUncertain significancers763915802RCV001248339; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656417988564179886:g.56417988C>G-
NM_001374736.1(DST):c.15586T>C (p.Leu5196_Asp5197=)667DSTBenignrs200133509RCV000979015; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656418004564180046:g.56418004A>G-
NM_001374736.1(DST):c.15584G>A (p.Cys5195Tyr)667DSTBenign/Likely benignrs57472891RCV000979008|RCV001692330; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656418006564180066:g.56418006C>T-
NM_001374736.1(DST):c.15581T>G (p.Phe5194Cys)667DSTUncertain significance-1RCV002820806; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641800956418009NC_000006.11:g.56418009A>C-
NM_001374736.1(DST):c.15570G>A (p.Glu5190_Glu5191=)667DSTBenign/Likely benignrs200941177RCV000979013|RCV002512134; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656418020564180206:g.56418020C>T-
NM_001374736.1(DST):c.15564C>T (p.Asn5188=)667DSTLikely benign-1RCV001414096; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564180265641802656418026-
NM_001374736.1(DST):c.15540A>G (p.Pro5180=)667DSTLikely benign-1RCV002090868; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564180505641805056418050-
NM_001374736.1(DST):c.15534C>T (p.Leu5178=)667DSTLikely benign-1RCV002167677; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564180565641805656418056-
NM_001374736.1(DST):c.15528G>T (p.Glu5176Asp)667DSTUncertain significance-1RCV001365638; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564180625641806256418062-
NM_001374736.1(DST):c.15526G>C (p.Glu5176Gln)667DSTUncertain significancers770419341RCV001244481; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656418064564180646:g.56418064C>G-
NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp)667DSTConflicting interpretations of pathogenicity-1RCV001911550|RCV002370479; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236564181015641810156418101-
NM_001374736.1(DST):c.15486A>G (p.Lys5162_Glu5163=)667DSTLikely benignrs1584777193RCV000983179; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656418104564181046:g.56418104T>C-
NM_001374736.1(DST):c.15465A>G (p.Lys5155=)667DSTLikely benign-1RCV002102783; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564181255641812556418125-
NM_001374736.1(DST):c.15446C>T (p.Thr5149Ile)667DSTUncertain significancers369194519RCV001245233|RCV002447215; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656418144564181446:g.56418144G>A-
NM_001374736.1(DST):c.15434C>T (p.Thr5145Ile)667DSTUncertain significance-1RCV002720767; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641815656418156NC_000006.11:g.56418156G>A-
NM_001374736.1(DST):c.15426A>G (p.Thr5142_Ile5143=)667DSTLikely benignrs767246314RCV000981895; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656418164564181646:g.56418164T>C-
NM_001374736.1(DST):c.15406T>G (p.Leu5136Val)667DSTUncertain significancers750727762RCV001327634|RCV002377427; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236564181845641818456418184-
NM_001374736.1(DST):c.15404C>T (p.Ala5135Val)667DSTUncertain significance-1RCV002650339; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641818656418186NC_000006.11:g.56418186G>A-
NM_001374736.1(DST):c.15398A>G (p.Lys5133Arg)667DSTUncertain significance-1RCV001901028|RCV002370466; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236564181925641819256418192-
NM_001374736.1(DST):c.15376T>C (p.Leu5126=)667DSTLikely benign-1RCV001492401; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564182145641821456418214-
NM_001374736.1(DST):c.15360del (p.Gly5121fs)667DSTPathogenic-1RCV001872177; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564182305641823056418229-
NM_001374736.1(DST):c.15356C>T (p.Ala5119Val)667DSTUncertain significance-1RCV001887817; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564182345641823456418234-
NM_001374736.1(DST):c.15353T>C (p.Ile5118Thr)667DSTUncertain significance-1RCV001914752; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564182375641823756418237-
NM_001374736.1(DST):c.15352A>G (p.Ile5118Val)667DSTUncertain significance-1RCV003077287; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641823856418238NC_000006.11:g.56418238T>C-
NM_001374736.1(DST):c.15341A>G (p.Tyr5114Cys)667DSTUncertain significancers866453035RCV001245719; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656418249564182496:g.56418249T>C-
NM_001374736.1(DST):c.15334C>A (p.His5112Asn)667DSTUncertain significancers2097351978RCV001239996; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656418256564182566:g.56418256G>T-
NM_001374736.1(DST):c.15327T>C (p.Ala5109=)667DSTLikely benign-1RCV001467256; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564182635641826356418263-
NM_001374736.1(DST):c.15327T>A (p.Ala5109=)667DSTLikely benign-1RCV002090228; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564182635641826356418263-
NM_001374736.1(DST):c.15326C>T (p.Ala5109Val)667DSTUncertain significance-1RCV002731189; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165641826456418264NC_000006.11:g.56418264G>A-
NM_001374736.1(DST):c.15325G>A (p.Ala5109Thr)667DSTUncertain significance-1RCV003075195; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641826556418265NC_000006.11:g.56418265C>T-
NM_001374736.1(DST):c.15310A>G (p.Ser5104Gly)667DSTUncertain significance-1RCV001922548; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564182805641828056418280-
NM_001374736.1(DST):c.15309T>A (p.Phe5103Leu)667DSTUncertain significancers191081991RCV000625440|RCV000998632|RCV001240921|RCV002377335; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656418281564182816:g.56418281A>TClinGen:CA3867837C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.15308T>C (p.Phe5103Ser)667DSTUncertain significance-1RCV001899540; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564182825641828256418282-
NM_001374736.1(DST):c.15300T>A (p.His5100Gln)667DSTUncertain significance-1RCV001362112|RCV002447460; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236564182905641829056418290-
NM_001374736.1(DST):c.15299A>G (p.His5100Arg)667DSTUncertain significance-1RCV001939767; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564182915641829156418291-
NM_001374736.1(DST):c.15271G>A (p.Asp5091Asn)667DSTUncertain significancers148831744RCV001239511|RCV001810003|RCV002375263; NMONDO: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|MeSH:D030342,MedGen:C0950123656418319564183196:g.56418319C>T-
NM_001374736.1(DST):c.15270C>T (p.Leu5090_Asp5091=)667DSTUncertain significance-1RCV003061358; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641832056418320NC_000006.11:g.56418320G>A-
NM_001374736.1(DST):c.15262G>A (p.Ala5088Thr)667DSTUncertain significancers2097352781RCV001248042; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656418328564183286:g.56418328C>T-
NM_001374736.1(DST):c.15242A>T (p.Asn5081Ile)667DSTUncertain significancers537433450RCV001248469; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656418348564183486:g.56418348T>A-
NM_001374736.1(DST):c.15216G>A (p.Trp5072Ter)667DSTPathogenic/Likely pathogenicrs893650971RCV000521976|RCV001244880; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656418374564183746:g.56418374C>TClinGen:CA364517866CN517202 not provided;
NM_001374736.1(DST):c.15216G>C (p.Trp5072Cys)667DSTUncertain significance-1RCV001945821; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564183745641837456418374-
NM_001374736.1(DST):c.15203A>T (p.Asp5068Val)667DSTUncertain significancers2097353414RCV001299644; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564183875641838756418387-
NM_001374736.1(DST):c.15199A>G (p.Arg5067Gly)667DSTUncertain significancers768224900RCV001246393; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656418391564183916:g.56418391T>C-
NM_001374736.1(DST):c.15191A>G (p.Gln5064Arg)667DSTBenign/Likely benignrs143438011RCV000979026|RCV001766802; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656418399564183996:g.56418399T>C-
NM_001374736.1(DST):c.15174C>T (p.Ser5058=)667DSTBenign-1RCV001517026; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564184165641841656418416-
NM_001374736.1(DST):c.15170C>T (p.Ala5057Val)667DSTUncertain significance-1RCV001990280; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564184205641842056418420-
NM_001374736.1(DST):c.15163G>A (p.Ala5055Thr)667DSTUncertain significance-1RCV001998528|RCV002370646; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236564184275641842756418427-
NM_001374736.1(DST):c.15162G>A (p.Ser5054=)667DSTLikely benign-1RCV002116742; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564184285641842856418428-
NM_001374736.1(DST):c.15161C>T (p.Ser5054Leu)667DSTUncertain significance-1RCV001880947; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564184295641842956418429-
NM_001374736.1(DST):c.15159G>T (p.Gln5053His)667DSTUncertain significance-1RCV001904969; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564184315641843156418431-
NM_001374736.1(DST):c.15147C>G (p.Val5049=)667DSTLikely benign-1RCV002179175; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564184435641844356418443-
NM_001374736.1(DST):c.15143A>T (p.His5048Leu)667DSTUncertain significance-1RCV002022293; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564184475641844756418447-
NM_001374736.1(DST):c.15138G>T (p.Glu5046Asp)667DSTUncertain significance-1RCV002631399; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641845256418452NC_000006.11:g.56418452C>A-
NM_001374736.1(DST):c.15137-16G>A667DSTUncertain significance-1RCV003081890; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165641846956418469NC_000006.11:g.56418469C>T-
NM_001374736.1(DST):c.15136+19C>T667DSTUncertain significance-1RCV003091157; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642012456420124NC_000006.11:g.56420124G>A-
NM_001374736.1(DST):c.15121G>A (p.Val5041Ile)667DSTBenign-1RCV001510456|RCV001685372; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN5172026564201585642015856420158-
NM_001374736.1(DST):c.15094G>A (p.Glu5032Lys)667DSTUncertain significance-1RCV002373509|RCV003100014; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564201855642018556420185-
NM_001374736.1(DST):c.15092T>A (p.Leu5031Gln)667DSTUncertain significance-1RCV001363050; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564201875642018756420187-
NM_001374736.1(DST):c.15091C>A (p.Leu5031Ile)667DSTUncertain significance-1RCV003022172; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642018856420188NC_000006.11:g.56420188G>T-
NM_001374736.1(DST):c.15085A>G (p.Arg5029Gly)667DSTUncertain significancers2097397900RCV001246126; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656420194564201946:g.56420194T>C-
NM_001374736.1(DST):c.15083G>A (p.Ser5028Asn)667DSTUncertain significance-1RCV001950543; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564201965642019656420196-
NM_001374736.1(DST):c.15070A>G (p.Lys5024Glu)667DSTUncertain significance-1RCV002938468; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642020956420209NC_000006.11:g.56420209T>C-
NM_001374736.1(DST):c.15065A>G (p.Tyr5022Cys)667DSTUncertain significance-1RCV003081461; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642021456420214NC_000006.11:g.56420214T>C-
NM_001374736.1(DST):c.15057A>C (p.Lys5019Asn)667DSTUncertain significancers952108992RCV001246993; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656420222564202226:g.56420222T>G-
NM_001374736.1(DST):c.15032G>A (p.Cys5011Tyr)667DSTUncertain significance-1RCV003040259; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642024756420247NC_000006.11:g.56420247C>T-
NM_001374736.1(DST):c.15028C>G (p.Leu5010Val)667DSTUncertain significance-1RCV001889385; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564202515642025156420251-
NM_001374736.1(DST):c.15025G>T (p.Ala5009Ser)667DSTUncertain significance-1RCV002848212; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642025456420254NC_000006.11:g.56420254C>A-
NM_001374736.1(DST):c.15004A>C (p.Lys5002Gln)667DSTLikely benign-1RCV001484809|RCV002449282; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236564202755642027556420275-
NM_001374736.1(DST):c.14972A>C (p.Gln4991Pro)667DSTUncertain significancers2097399604RCV001239100; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656420307564203076:g.56420307T>G-
NM_001374736.1(DST):c.14959T>C (p.Leu4987_Glu4988=)667DSTBenignrs78470764RCV000979576; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656420320564203206:g.56420320A>G-
NM_001374736.1(DST):c.14957A>C (p.Gln4986Pro)667DSTUncertain significance-1RCV002614222; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642032256420322NC_000006.11:g.56420322T>G-
NM_001374736.1(DST):c.14952C>T (p.Asn4984=)667DSTLikely benign-1RCV002099271; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564203275642032756420327-
NM_001374736.1(DST):c.14951A>G (p.Asn4984Ser)667DSTUncertain significancers751619980RCV001246729; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656420328564203286:g.56420328T>C-
NM_001374736.1(DST):c.14947A>G (p.Met4983Val)667DSTUncertain significancers188156383RCV002447221|RCV001246730; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656420332564203326:g.56420332T>C-
NM_001374736.1(DST):c.14947A>C (p.Met4983Leu)667DSTUncertain significancers188156383RCV001248470|RCV002447229; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656420332564203326:g.56420332T>G-
NM_001374736.1(DST):c.14944G>A (p.Ala4982Thr)667DSTUncertain significance-1RCV001884821; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564203355642033556420335-
NM_001374736.1(DST):c.14937C>T (p.His4979=)667DSTLikely benign-1RCV001488166; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564203425642034256420342-
NM_001374736.1(DST):c.14936A>G (p.His4979Arg)667DSTUncertain significancers763236400RCV001244360; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656420343564203436:g.56420343T>C-
NM_001374736.1(DST):c.14934G>A (p.Thr4978=)667DSTLikely benign-1RCV001413657; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564203455642034556420345-
NM_001374736.1(DST):c.14933C>T (p.Thr4978Met)667DSTUncertain significancers202121891RCV001245166|RCV002447213; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656420346564203466:g.56420346G>A-
NM_001374736.1(DST):c.14904T>C (p.Asn4968_Lys4969=)667DSTLikely benign-1RCV002594032; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642037556420375NC_000006.11:g.56420375A>G-
NM_001374736.1(DST):c.14880T>C (p.Ser4960=)667DSTLikely benign-1RCV001466429; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564203995642039956420399-
NM_001374736.1(DST):c.14874C>A (p.Ser4958Arg)667DSTUncertain significancers746641066RCV001243635; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656420405564204056:g.56420405G>T-
NM_001374736.1(DST):c.14874C>G (p.Ser4958Arg)667DSTUncertain significance-1RCV001984644; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564204055642040556420405-
NM_001374736.1(DST):c.14870G>C (p.Arg4957Thr)667DSTUncertain significance-1RCV002866179; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642040956420409NC_000006.11:g.56420409C>G-
NM_001374736.1(DST):c.14861G>A (p.Ser4954Asn)667DSTUncertain significancers1360966681RCV001322234; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564204185642041856420418-
NM_001374736.1(DST):c.14815T>G (p.Cys4939Gly)667DSTUncertain significance-1RCV001986697; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564204645642046456420464-
NM_001374736.1(DST):c.14800C>A (p.Gln4934Lys)667DSTUncertain significancers199936602RCV001241612|RCV002411889; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656420479564204796:g.56420479G>T-
NM_001374736.1(DST):c.14772G>A (p.Val4924=)667DSTLikely benign-1RCV001409186; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564205075642050756420507-
NM_001374736.1(DST):c.14763G>A (p.Leu4921_Ala4922=)667DSTUncertain significance-1RCV002675745; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642051656420516NC_000006.11:g.56420516C>T-
NM_001374736.1(DST):c.14742T>C (p.Arg4914_Gly4915=)667DSTUncertain significance-1RCV003083938; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642053756420537NC_000006.11:g.56420537A>G-
NM_001374736.1(DST):c.14741G>A (p.Arg4914His)667DSTBenign-1RCV001510453|RCV001664908|RCV001655738|RCV001664909; NMONDO: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|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:61546564205385642053856420538-
NM_001374736.1(DST):c.14735C>T (p.Ser4912Phe)667DSTUncertain significance-1RCV002025755; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564205445642054456420544-
NM_001374736.1(DST):c.14731C>A (p.Pro4911Thr)667DSTUncertain significancers201412680RCV001324123|RCV001332914|RCV001508546|RCV002438741; NMONDO: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|MeSH:D030342,MedGen:C09501236564205485642054856420548-
NM_001374736.1(DST):c.14726A>G (p.Glu4909Gly)667DSTUncertain significance-1RCV001895320; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564205535642055356420553-
NM_001374736.1(DST):c.14725G>A (p.Glu4909Lys)667DSTUncertain significance-1RCV001967637; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564205545642055456420554-
NM_001374736.1(DST):c.14718G>A (p.Arg4906=)667DSTLikely benign-1RCV001416915; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564205615642056156420561-
NM_001374736.1(DST):c.14709T>A (p.Ile4903=)667DSTLikely benign-1RCV001414085; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564205705642057056420570-
NM_001374736.1(DST):c.14688G>A (p.Leu4896=)667DSTLikely benign-1RCV001429271; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564205915642059156420591-
NM_001374736.1(DST):c.14686C>T (p.Leu4896=)667DSTLikely benign-1RCV001506000; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564205935642059356420593-
NM_001374736.1(DST):c.14675A>G (p.Gln4892Arg)667DSTUncertain significance-1RCV002033419; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564206045642060456420604-
NM_001374736.1(DST):c.14661C>T (p.Ala4887=)667DSTLikely benign-1RCV001479222; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564206185642061856420618-
NM_001374736.1(DST):c.14655A>G (p.Glu4885=)667DSTLikely benign-1RCV001396875; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564206245642062456420624-
NM_001374736.1(DST):c.14650C>G (p.Gln4884Glu)667DSTUncertain significance-1RCV002430287|RCV003099895; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564206295642062956420629-
NM_001374736.1(DST):c.14646G>A (p.Leu4882=)667DSTLikely benign-1RCV001437872; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564206335642063356420633-
NM_001374736.1(DST):c.14641-4T>G667DSTLikely benign-1RCV001398506; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564206425642064256420642-
NM_001374736.1(DST):c.14641-4T>C667DSTLikely benign-1RCV001436024; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564206425642064256420642-
NM_001374736.1(DST):c.14641-5del667DSTUncertain significance-1RCV003081948; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642064356420643NC_000006.11:g.56420644del-
NM_001374736.1(DST):c.14640+19C>T667DSTLikely benign-1RCV002137845; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564220985642209856422098-
NM_001374736.1(DST):c.14640+8T>G667DSTLikely benign-1RCV002124131; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564221095642210956422109-
NM_001374736.1(DST):c.14640+5G>A667DSTUncertain significancers2097441805RCV001243499; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656422112564221126:g.56422112C>T-
NM_001374736.1(DST):c.14637G>A (p.Val4879=)667DSTUncertain significancers765614214RCV001303200; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564221205642212056422120-
NM_001374736.1(DST):c.14636T>G (p.Val4879Gly)667DSTUncertain significancers2097442163RCV001316549; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564221215642212156422121-
NM_001374736.1(DST):c.14601T>A (p.Ile4867=)667DSTUncertain significance-1RCV001893559; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564221565642215656422156-
NM_001374736.1(DST):c.14592C>T (p.Pro4864=)667DSTLikely benign-1RCV001457665; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564221655642216556422165-
NM_001374736.1(DST):c.14574G>A (p.Met4858Ile)667DSTUncertain significance-1RCV001934503; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564221835642218356422183-
NM_001374736.1(DST):c.14573T>C (p.Met4858Thr)667DSTUncertain significance-1RCV001508547|RCV002567992; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564221845642218456422184-
NM_001374736.1(DST):c.14542T>C (p.Leu4848=)667DSTLikely benign-1RCV001462729; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564222155642221556422215-
NM_001374736.1(DST):c.14541A>G (p.Gln4847=)667DSTBenign-1RCV001514397|RCV001655749; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN5172026564222165642221656422216-
NM_001374736.1(DST):c.14532A>G (p.Val4844=)667DSTLikely benign-1RCV002156006; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564222255642222556422225-
NM_001374736.1(DST):c.14530G>A (p.Val4844Ile)667DSTUncertain significance-1RCV001939733|RCV002425209; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236564222275642222756422227-
NM_001374736.1(DST):c.14523C>T (p.Phe4841_Gln4842=)667DSTUncertain significance-1RCV002830059; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642223456422234NC_000006.11:g.56422234G>A-
NM_001374736.1(DST):c.14515A>G (p.Thr4839Ala)667DSTUncertain significancers371655301RCV001239102|RCV002418818; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656422242564222426:g.56422242T>C-
NM_001374736.1(DST):c.14510A>G (p.Asn4837Ser)667DSTUncertain significancers1202507145RCV001246395; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656422247564222476:g.56422247T>C-
NM_001374736.1(DST):c.14505C>T (p.Ser4835=)667DSTLikely benign-1RCV002178404; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564222525642225256422252-
NM_001374736.1(DST):c.14501C>A (p.Ser4834Tyr)667DSTUncertain significancers1290750029RCV001248531|RCV002418856; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656422256564222566:g.56422256G>T-
NM_001374736.1(DST):c.14495A>G (p.Glu4832Gly)667DSTConflicting interpretations of pathogenicityrs201437391RCV000998633|RCV001452152|RCV002416283; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656422262564222626:g.56422262T>C-
NM_001374736.1(DST):c.14474T>C (p.Ile4825Thr)667DSTUncertain significance-1RCV002585254; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165642228356422283NC_000006.11:g.56422283A>G-
NM_001374736.1(DST):c.14461A>C (p.Asn4821His)667DSTBenign/Likely benignrs139089184RCV000982198|RCV002416259; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656422296564222966:g.56422296T>G-
NM_001374736.1(DST):c.14452C>G (p.Gln4818Glu)667DSTUncertain significance-1RCV002015749; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564223055642230556422305-
NM_001374736.1(DST):c.14441-7_14441-6del667DSTConflicting interpretations of pathogenicity-1RCV001410504|RCV002420918; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236564223225642232356422321-
NM_001374736.1(DST):c.14441-7C>T667DSTLikely benign-1RCV001493169|RCV001815567; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN5172026564223235642232356422323-
NM_001374736.1(DST):c.14441-7del667DSTBenign/Likely benign-1RCV001510457|RCV001732194; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN5172026564223235642232356422322-
NM_001374736.1(DST):c.14441-10T>C667DSTLikely benign-1RCV001431544; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564223265642232656422326-
NM_001374736.1(DST):c.14440+15T>G667DSTLikely benign-1RCV002194388; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564250775642507756425077-
NM_001374736.1(DST):c.14440+11T>C667DSTLikely benign-1RCV003084224; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642508156425081NC_000006.11:g.56425081A>G-
NM_001374736.1(DST):c.14440+10G>A667DSTLikely benignrs375501871RCV000979880; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656425082564250826:g.56425082C>T-
NM_001374736.1(DST):c.14440+9C>T667DSTLikely benign-1RCV001483485; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564250835642508356425083-
NM_001374736.1(DST):c.14440+8G>A667DSTLikely benign-1RCV001457073; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564250845642508456425084-
NM_001374736.1(DST):c.14440G>A (p.Asp4814Asn)667DSTLikely benign-1RCV001501061|RCV002421144; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236564250925642509256425092-
NM_001374736.1(DST):c.14439A>G (p.Ile4813Met)667DSTUncertain significancers373340565RCV000817186; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656425093564250936:g.56425093T>C-
NM_001374736.1(DST):c.14434G>C (p.Glu4812Gln)667DSTUncertain significancers779944990RCV001346120; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564250985642509856425098-
NM_001374736.1(DST):c.14424G>T (p.Gln4808His)667DSTUncertain significance-1RCV001365668; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564251085642510856425108-
NM_001374736.1(DST):c.14418G>C (p.Trp4806Cys)667DSTUncertain significancers2097517609RCV001296252; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564251145642511456425114-
NM_001374736.1(DST):c.14415A>T (p.Arg4805Ser)667DSTUncertain significance-1RCV001991441; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564251175642511756425117-
NM_001374736.1(DST):c.14412C>T (p.Pro4804=)667DSTLikely benign-1RCV001393430; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564251205642512056425120-
NM_001374736.1(DST):c.14410C>T (p.Pro4804Ser)667DSTUncertain significancers368820405RCV000823210; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656425122564251226:g.56425122G>A-
NM_001374736.1(DST):c.14407G>A (p.Ala4803Thr)667DSTUncertain significancers773639256RCV001246127|RCV002411906; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656425125564251256:g.56425125C>T-
NM_001374736.1(DST):c.14399C>A (p.Thr4800Asn)667DSTUncertain significance-1RCV001899169|RCV002407045; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236564251335642513356425133-
NM_001374736.1(DST):c.14392C>T (p.Pro4798Ser)667DSTUncertain significancers372505269RCV001243295|RCV002418837; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656425140564251406:g.56425140G>A-
NM_001374736.1(DST):c.14381T>C (p.Leu4794Ser)667DSTUncertain significancers2097518193RCV001246198; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656425151564251516:g.56425151A>G-
NM_001374736.1(DST):c.14375A>C (p.Glu4792Ala)667DSTUncertain significance-1RCV001989201; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564251575642515756425157-
NM_001374736.1(DST):c.14367A>G (p.Lys4789=)667DSTLikely benign-1RCV002130531; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564251655642516556425165-
NM_001374736.1(DST):c.14360A>C (p.Lys4787Thr)667DSTUncertain significance-1RCV001907388; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564251725642517256425172-
NM_001374736.1(DST):c.14346A>C (p.Lys4782Asn)667DSTUncertain significance-1RCV001997520; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564251865642518656425186-
NM_001374736.1(DST):c.14336A>G (p.Asn4779Ser)667DSTUncertain significance-1RCV002839210; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642519656425196NC_000006.11:g.56425196T>C-
NM_001374736.1(DST):c.14328G>A (p.Leu4776=)667DSTLikely benign-1RCV001405654; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564252045642520456425204-
NM_001374736.1(DST):c.14313G>A (p.Ser4771_Phe4772=)667DSTBenignrs113998459RCV000981882; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656425219564252196:g.56425219C>T-
NM_001374736.1(DST):c.14312C>T (p.Ser4771Leu)667DSTBenign/Likely benignrs62619760RCV000979029|RCV002285433; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656425220564252206:g.56425220G>A-
NM_001374736.1(DST):c.14311-6T>G667DSTBenign/Likely benign-1RCV002416869|RCV003099799; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564252275642522756425227-
NM_001374736.1(DST):c.14311-19A>G667DSTBenign-1RCV002106632; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564252405642524056425240-
NM_001374736.1(DST):c.14311-20T>G667DSTLikely benign-1RCV002096594; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564252415642524156425241-
NM_001374736.1(DST):c.14310+19C>T667DSTLikely benign-1RCV002109156; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564260875642608756426087-
NM_001374736.1(DST):c.14301G>A (p.Glu4767_Gln4768=)667DSTUncertain significance-1RCV003081454; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642611556426115NC_000006.11:g.56426115C>T-
NM_001374736.1(DST):c.14297T>C (p.Val4766Ala)667DSTUncertain significancers368555516RCV001299272; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564261195642611956426119-
NM_001374736.1(DST):c.14291C>T (p.Thr4764Ile)667DSTUncertain significancers1664409134RCV001239590; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656426125564261256:g.56426125G>A-
NM_001374736.1(DST):c.14274T>C (p.Asp4758=)667DSTLikely benign-1RCV001505472; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564261425642614256426142-
NM_001374736.1(DST):c.14265A>G (p.Ala4755_Pro4756=)667DSTUncertain significance-1RCV002588787; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642615156426151NC_000006.11:g.56426151T>C-
NM_001374736.1(DST):c.14264C>G (p.Ala4755Gly)667DSTUncertain significance-1RCV001891626; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564261525642615256426152-
NM_001374736.1(DST):c.14260C>G (p.Pro4754Ala)667DSTUncertain significancers188631490RCV001246064|RCV001508548; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN517202656426156564261566:g.56426156G>C-
NM_001374736.1(DST):c.14252A>G (p.Gln4751Arg)667DSTUncertain significance-1RCV001970280; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564261645642616456426164-
NM_001374736.1(DST):c.14245A>G (p.Lys4749Glu)667DSTUncertain significance-1RCV002609491; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642617156426171NC_000006.11:g.56426171T>C-
NM_001374736.1(DST):c.14234A>G (p.Lys4745Arg)667DSTUncertain significance-1RCV001365516|RCV002413872; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236564261825642618256426182-
NM_001374736.1(DST):c.14224A>G (p.Lys4742Glu)667DSTUncertain significance-1RCV001954872|RCV002407092; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236564261925642619256426192-
NM_001374736.1(DST):c.14217G>A (p.Trp4739Ter)667DSTPathogenicrs2097534211RCV001248338; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656426199564261996:g.56426199C>T-
NM_001374736.1(DST):c.14207T>C (p.Met4736Thr)667DSTUncertain significance-1RCV001364781; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564262095642620956426209-
NM_001374736.1(DST):c.14193A>G (p.Glu4731=)667DSTLikely benign-1RCV002097800; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564262235642622356426223-
NM_001374736.1(DST):c.14181A>G (p.Gln4727=)667DSTUncertain significancers2097534567RCV001246272; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656426235564262356:g.56426235T>C-
NM_001374736.1(DST):c.14180A>G (p.Gln4727Arg)667DSTUncertain significancers1235195966RCV001248530|RCV002411915; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656426236564262366:g.56426236T>C-
NM_001374736.1(DST):c.14174A>G (p.Lys4725Arg)667DSTBenignrs78484087RCV000979005|RCV001615088; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656426242564262426:g.56426242T>C-
NM_001374736.1(DST):c.14170T>C (p.Ser4724Pro)667DSTBenignrs148547958RCV000979587; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656426246564262466:g.56426246A>G-
NM_001374736.1(DST):c.14162C>T (p.Thr4721Ile)667DSTUncertain significancers1562806934RCV001349667; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564262545642625456426254-
NM_001374736.1(DST):c.14151G>A (p.Ala4717_Glu4718=)667DSTBenign/Likely benignrs78882406RCV000979038|RCV002225770; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202656426265564262656:g.56426265C>T-
NM_001374736.1(DST):c.14150C>T (p.Ala4717Val)667DSTUncertain significancers181741923RCV001508549|RCV001242695; NMedGen:CN517202|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656426266564262666:g.56426266G>A-
NM_001374736.1(DST):c.14144A>G (p.Lys4715Arg)667DSTUncertain significancers199706428RCV001245505; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656426272564262726:g.56426272T>C-
NM_001374736.1(DST):c.14140G>A (p.Asp4714Asn)667DSTUncertain significancers777868479RCV001242624; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656426276564262766:g.56426276C>T-
NM_001374736.1(DST):c.14134C>T (p.Leu4712Phe)667DSTUncertain significancers376647921RCV001312571; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564262825642628256426282-
NM_001374736.1(DST):c.14130C>T (p.Leu4710=)667DSTLikely benign-1RCV001466847; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564262865642628656426286-
NM_001374736.1(DST):c.14108A>G (p.His4703Arg)667DSTUncertain significancers772369999RCV001241197; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656426308564263086:g.56426308T>C-
NM_001374736.1(DST):c.14094G>T (p.Met4698Ile)667DSTLikely benign-1RCV001496383; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564263225642632256426322-
NM_001374736.1(DST):c.14092A>T (p.Met4698Leu)667DSTUncertain significance-1RCV002400749|RCV003099728; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564263245642632456426324-
NM_001374736.1(DST):c.14069-5C>T667DSTLikely benign-1RCV002175061; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564263525642635256426352-
NM_001374736.1(DST):c.14069-12T>C667DSTLikely benign-1RCV002043288; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564263595642635956426359-
NM_001374736.1(DST):c.14069-16T>G667DSTBenign-1RCV002117973; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564263635642636356426363-
NM_001374736.1(DST):c.14068+5G>A667DSTBenignrs9367689RCV000613030|RCV001510450|RCV001613403|RCV001662664|RCV001700175; NMONDO: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|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615465642693156426931NC_000006.11:g.56426931C>TClinGen:CA3868108C3539003 614653 Neuropathy, hereditary sensory and autonomic, type VI;
NM_001374736.1(DST):c.14064T>C (p.Asn4688=)667DSTUncertain significancers1377086977RCV000797972; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656426940564269406:g.56426940A>G-
NM_001374736.1(DST):c.14057G>A (p.Trp4686Ter)667DSTPathogenicrs2097544341RCV001248266; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656426947564269476:g.56426947C>T-
NM_001374736.1(DST):c.14052A>G (p.Glu4684=)667DSTLikely benign-1RCV001405634; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564269525642695256426952-
NM_001374736.1(DST):c.14035G>C (p.Ala4679Pro)667DSTUncertain significancers775166216RCV001246731; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656426969564269696:g.56426969C>G-
NM_001374736.1(DST):c.14033C>T (p.Thr4678Ile)667DSTUncertain significancers1382596937RCV001322514|RCV002402898; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236564269715642697156426971-
NM_001374736.1(DST):c.14024G>A (p.Gly4675Asp)667DSTUncertain significance-1RCV001365847; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564269805642698056426980-
NM_001374736.1(DST):c.14024G>T (p.Gly4675Val)667DSTUncertain significance-1RCV001952666|RCV002305636; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN5172026564269805642698056426980-
NM_001374736.1(DST):c.14006-6T>C667DSTBenign-1RCV001514390|RCV001709712; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MedGen:CN5172026564270045642700456427004-
NM_001374736.1(DST):c.14006-16G>A667DSTUncertain significance-1RCV002820536; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642701456427014NC_000006.11:g.56427014C>T-
NM_001374736.1(DST):c.14006-18G>A667DSTUncertain significance-1RCV003088219; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165642701656427016NC_000006.11:g.56427016C>T-
NM_001374736.1(DST):c.14005+6A>T667DSTUncertain significancers377182814RCV001243167|RCV002393631; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656433261564332616:g.56433261T>A-
NM_001374736.1(DST):c.13990G>A (p.Ala4664Thr)667DSTUncertain significance-1RCV002575561; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643328256433282NC_000006.11:g.56433282C>T-
NM_001374736.1(DST):c.13970C>G (p.Thr4657Ser)667DSTUncertain significancers528578142RCV001245918|RCV002393652; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656433302564333026:g.56433302G>C-
NM_001374736.1(DST):c.13963G>T (p.Ala4655Ser)667DSTUncertain significancers370851951RCV001347125; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564333095643330956433309-
NM_001374736.1(DST):c.13957A>G (p.Ile4653Val)667DSTUncertain significance-1RCV003081451; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643331556433315NC_000006.11:g.56433315T>C-
NM_001374736.1(DST):c.13956A>C (p.Leu4652Phe)667DSTUncertain significance-1RCV002394177|RCV003099693; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564333165643331656433316-
NM_001374736.1(DST):c.13947A>G (p.Leu4649=)667DSTLikely benign-1RCV002176699; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564333255643332556433325-
NM_001374736.1(DST):c.13934G>A (p.Ser4645Asn)667DSTUncertain significancers748268169RCV001244609; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656433338564333386:g.56433338C>T-
NM_001374736.1(DST):c.13933A>G (p.Ser4645Gly)667DSTUncertain significance-1RCV002899896; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643333956433339NC_000006.11:g.56433339T>C-
NM_001374736.1(DST):c.13929C>T (p.Asn4643=)667DSTLikely benign-1RCV002178579; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564333435643334356433343-
NM_001374736.1(DST):c.13928A>T (p.Asn4643Ile)667DSTUncertain significancers147895709RCV001319626|RCV002395694; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236564333445643334456433344-
NM_001374736.1(DST):c.13912G>C (p.Glu4638Gln)667DSTUncertain significancers377669664RCV001241869; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381656433360564333606:g.56433360C>G-
NM_001374736.1(DST):c.13909C>G (p.Pro4637Ala)667DSTUncertain significance-1RCV002620748; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643336356433363NC_000006.11:g.56433363G>C-
NM_001374736.1(DST):c.13905A>C (p.Lys4635Asn)667DSTUncertain significance-1RCV001913265; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564333675643336756433367-
NM_001374736.1(DST):c.13902A>T (p.Leu4634Phe)667DSTUncertain significance-1RCV001367027; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564333705643337056433370-
NM_001374736.1(DST):c.13885C>A (p.Gln4629Lys)667DSTUncertain significancers1207366191RCV001246270|RCV002393654; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656433387564333876:g.56433387G>T-
NM_001374736.1(DST):c.13882T>C (p.Leu4628_Gln4629=)667DSTUncertain significance-1RCV002871103; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643339056433390NC_000006.11:g.56433390A>G-
NM_001374736.1(DST):c.13879-16_13879-15del667DSTUncertain significance-1RCV002623136; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643340856433409NC_000006.11:g.56433409CA[1]-
NM_001374736.1(DST):c.13878+8A>G667DSTLikely benign-1RCV001413217; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564346465643464656434646-
NM_001374736.1(DST):c.13856G>A (p.Gly4619Glu)667DSTUncertain significance-1RCV002391584|RCV003099656; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564346765643467656434676-
NM_001374736.1(DST):c.13825G>A (p.Val4609Ile)667DSTUncertain significance-1RCV001954757; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564347075643470756434707-
NM_001374736.1(DST):c.13820C>A (p.Pro4607His)667DSTBenign/Likely benignrs138967674RCV000979003|RCV001732002|RCV002391024; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN517202|MeSH:D030342,MedGen:C0950123656434712564347126:g.56434712G>T-
NM_001374736.1(DST):c.13813A>G (p.Lys4605Glu)667DSTUncertain significancers113849115RCV001241062|RCV002379922; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656434719564347196:g.56434719T>C-
NM_001374736.1(DST):c.13810A>G (p.Lys4604Glu)667DSTUncertain significance-1RCV002791489; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:41218165643472256434722NC_000006.11:g.56434722T>C-
NM_001374736.1(DST):c.13807A>G (p.Thr4603Ala)667DSTUncertain significancers2097755652RCV001247573; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656434725564347256:g.56434725T>C-
NM_001374736.1(DST):c.13801G>A (p.Glu4601Lys)667DSTUncertain significance-1RCV001913040|RCV002386695; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236564347315643473156434731-
NM_001374736.1(DST):c.13757A>C (p.Asp4586Ala)667DSTUncertain significance-1RCV001988133; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564347755643477556434775-
NM_001374736.1(DST):c.13736C>T (p.Thr4579Ile)667DSTUncertain significancers2097756144RCV001241810; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656434796564347966:g.56434796G>A-
NM_001374736.1(DST):c.13724AAG[1] (p.Glu4576del)667DSTUncertain significancers2097756169RCV001352131; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564348035643480556434802-
NM_001374736.1(DST):c.13722-4G>A667DSTBenign-1RCV001510526; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564348145643481456434814-
NM_001374736.1(DST):c.13722-5T>C667DSTLikely benign-1RCV001483482; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564348155643481556434815-
NM_001374736.1(DST):c.13721+13T>G667DSTLikely benign-1RCV002088557; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564368855643688556436885-
NM_001374736.1(DST):c.13721+2dup667DSTUncertain significance-1RCV001933258; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564368955643689656436895-
NM_001374736.1(DST):c.13711A>G (p.Ile4571Val)667DSTUncertain significance-1RCV001926908; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564369085643690856436908-
NM_001374736.1(DST):c.13710C>A (p.Thr4570=)667DSTLikely benign-1RCV002110255; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564369095643690956436909-
NM_001374736.1(DST):c.13709C>A (p.Thr4570Asn)667DSTUncertain significancers1448444120RCV001245790; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656436910564369106:g.56436910G>T-
NM_001374736.1(DST):c.13707_13708insTAATATAAATAGAATAAAATAT (p.Thr4570Ter)667DSTPathogenic-1RCV001994464; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564369115643691256436911-
NM_001374736.1(DST):c.13705G>A (p.Asp4569Asn)667DSTUncertain significancers759202844RCV001242443|RCV002379931; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C0950123656436914564369146:g.56436914C>T-
NM_001374736.1(DST):c.13701G>A (p.Met4567Ile)667DSTUncertain significancers1445711960RCV000998634|RCV001239864; NMedGen:CN517202|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656436918564369186:g.56436918C>T-
NM_001374736.1(DST):c.13697A>G (p.Glu4566Gly)667DSTUncertain significance-1RCV003092347; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643692256436922NC_000006.11:g.56436922T>C-
NM_001374736.1(DST):c.13676A>G (p.Asn4559Ser)667DSTUncertain significance-1RCV001940639; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564369435643694356436943-
NM_001374736.1(DST):c.13652C>T (p.Ala4551Val)667DSTUncertain significance-1RCV001946332; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564369675643696756436967-
NM_001374736.1(DST):c.13631A>G (p.His4544Arg)667DSTUncertain significancers748806288RCV001343786; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564369885643698856436988-
NM_001374736.1(DST):c.13630C>T (p.His4544Tyr)667DSTUncertain significancers1397028886RCV001317743; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564369895643698956436989-
NM_001374736.1(DST):c.13609C>T (p.Leu4537Phe)667DSTUncertain significance-1RCV001909963|RCV002370505; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C09501236564370105643701056437010-
NM_001374736.1(DST):c.13606A>G (p.Ser4536Gly)667DSTUncertain significance-1RCV001985452; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:4121816564370135643701356437013-
NM_001374736.1(DST):c.13598T>C (p.Val4533Ala)667DSTBenign/Likely benign-1RCV001514396|RCV001776241; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MedGen:CN5172026564370215643702156437021-
NM_001374736.1(DST):c.13592T>C (p.Leu4531Pro)667DSTUncertain significancers760912540RCV000794796; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181656437027564370276:g.56437027A>G-
NM_001374736.1(DST):c.13592T>A (p.Leu4531His)667DSTUncertain significance-1RCV002583036; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:31438165643702756437027NC_000006.11:g.56437027A>T-
NM_001374736.1(DST):c.13591C>G (p.Leu4531Val)667DSTUncertain significancers996209535RCV001305536|RCV002375373; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381|MeSH:D030342,MedGen:C09501236564370285643702856437028-
NM_001374736.1(DST):c.13581C>T (p.His4527=)667DSTLikely benign-1RCV001487875; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564370385643703856437038-
NM_001374736.1(DST):c.13568A>G (p.Glu4523Gly)667DSTUncertain significance-1RCV002031449; NMONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181; MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:3143816564370515643705156437051-
NM_001374736.1(DST):c.13565C>A (p.Ser4522Tyr)667DSTUncertain significancers751015571RCV001241740|RCV002375279; NMONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653, Orphanet:314381; MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425, Orphanet:412181|MeSH:D030342,MedGen:C0950123656437054564370546:g.56437054G>T-
NM_001374736.1(DST):c.13563T>G (p.Thr4521_Ser4522=)667DSTUncertain significance-1RCV002610607; NMONDO:MONDO:0013839,M