| NM_002529.4(NTRK1):c.817C>T (p.Arg273Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000554710]|not provided [RCV003222018] |
Chr1:156871722 [GRCh38]
Chr1:156841514 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.376G>A (p.Ala126Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000558924]|not provided [RCV004721413] |
Chr1:156866926 [GRCh38]
Chr1:156836718 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2242C>T (p.Arg748Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000552631]|Inborn genetic diseases [RCV002431485]|not provided [RCV000520846] |
Chr1:156881493 [GRCh38]
Chr1:156851285 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2334C>T (p.His778=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000531042]|Inborn genetic diseases [RCV002448620] |
Chr1:156881585 [GRCh38]
Chr1:156851377 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1528A>T (p.Ile510Phe) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003343888]|Inborn genetic diseases [RCV002395253]|not provided [RCV000521036] |
Chr1:156876106 [GRCh38]
Chr1:156845898 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.311G>A (p.Arg104His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000538023]|Inborn genetic diseases [RCV002323917]|not provided [RCV001726213] |
Chr1:156864751 [GRCh38]
Chr1:156834543 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.366C>G (p.Leu122=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000544129]|Inborn genetic diseases [RCV002456051] |
Chr1:156866916 [GRCh38]
Chr1:156836708 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.280A>C (p.Arg94=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000530155]|Inborn genetic diseases [RCV002438294] |
Chr1:156864421 [GRCh38]
Chr1:156834213 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1480C>A (p.Pro494Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000533247]|Hereditary insensitivity to pain with anhidrosis [RCV000764985]|Inborn genetic diseases [RCV002395292] |
Chr1:156875645 [GRCh38]
Chr1:156845437 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1354C>T (p.Arg452Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000559015]|Inborn genetic diseases [RCV002384046]|not provided [RCV001755797] |
Chr1:156875008 [GRCh38]
Chr1:156844800 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NTRK1, 1-BP DEL, 1726C |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000013094] |
Chr1:1q21-q22 |
pathogenic |
| NM_002529.4(NTRK1):c.2046+3A>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013095] |
Chr1:156879365 [GRCh38]
Chr1:156849157 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NTRK1, IVS4, G-C, -1 AND ARG85SER |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013098] |
Chr1:1q21-q22 |
pathogenic |
| NTRK1, IVS7AS, T-A, -33 |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013099] |
Chr1:1q21-q22 |
pathogenic |
| NTRK1, 1-BP INS, 1926T |
insertion |
Hereditary insensitivity to pain with anhidrosis [RCV000013102] |
Chr1:1q21-q22 |
pathogenic |
| NM_002529.4(NTRK1):c.1882C>T (p.Leu628=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000550533]|Inborn genetic diseases [RCV002413445] |
Chr1:156879198 [GRCh38]
Chr1:156848990 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2377G>T (p.Asp793Tyr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000555950] |
Chr1:156881628 [GRCh38]
Chr1:156851420 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2222C>T (p.Thr741Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000541988]|Hereditary insensitivity to pain with anhidrosis [RCV000764987]|not provided [RCV000523624] |
Chr1:156881473 [GRCh38]
Chr1:156851265 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.207_208del (p.Glu70fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000022807] |
Chr1:156861141..156861142 [GRCh38]
Chr1:156830933..156830934 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1729G>C (p.Gly577Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013096] |
Chr1:156876496 [GRCh38]
Chr1:156846288 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2339G>C (p.Arg780Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013097] |
Chr1:156881590 [GRCh38]
Chr1:156851382 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000013100]|Hereditary insensitivity to pain with anhidrosis [RCV000030674]|not provided [RCV000712453]|not specified [RCV000592514] |
Chr1:156879126 [GRCh38]
Chr1:156848918 [GRCh37]
Chr1:1q23.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000013101]|Hereditary insensitivity to pain with anhidrosis [RCV000031916]|not provided [RCV000712454]|not specified [RCV000127263] |
Chr1:156879154 [GRCh38]
Chr1:156879154..156879155 [GRCh38]
Chr1:156848946 [GRCh37]
Chr1:156848946..156848947 [GRCh37]
Chr1:1q23.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013103] |
Chr1:156880036 [GRCh38]
Chr1:156849828 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.1076A>G (p.Tyr359Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789504]|Hereditary insensitivity to pain with anhidrosis [RCV000013104] |
Chr1:156873858 [GRCh38]
Chr1:156843650 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.1759A>G (p.Met587Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013105] |
Chr1:156876526 [GRCh38]
Chr1:156846318 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1660del (p.Arg554fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000020468] |
Chr1:156876427 [GRCh38]
Chr1:156846219 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs) |
insertion |
Hereditary insensitivity to pain with anhidrosis [RCV000020469]|not provided [RCV000479042] |
Chr1:156879176..156879177 [GRCh38]
Chr1:156848968..156848969 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000020470] |
Chr1:156879336 [GRCh38]
Chr1:156849128 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.851-33T>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000020471]|Inborn genetic diseases [RCV000190819]|not provided [RCV002468974] |
Chr1:156873600 [GRCh38]
Chr1:156843392 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.25C>T (p.Gln9Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000031917] |
Chr1:156860959 [GRCh38]
Chr1:156830751 [GRCh37]
Chr1:1q23.1 |
pathogenic|not provided |
| GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] |
Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3 |
pathogenic |
| NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001081416]|not provided [RCV000757575]|not specified [RCV000173175] |
Chr1:156860987 [GRCh38]
Chr1:156830779 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014215.2(INSRR):c.3271G>A (p.Glu1091Lys) |
single nucleotide variant |
Malignant melanoma [RCV000059925] |
Chr1:156842238 [GRCh38]
Chr1:156812030 [GRCh37]
Chr1:155078654 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_002529.4(NTRK1):c.514G>A (p.Glu172Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003338404]|not provided [RCV001509067] |
Chr1:156868189 [GRCh38]
Chr1:156837981 [GRCh37]
Chr1:155104605 [NCBI36]
Chr1:1q23.1 |
uncertain significance|not provided |
| NM_001007792.1(NTRK1):c.426A>C (p.Glu142Asp) |
single nucleotide variant |
Malignant melanoma [RCV000064209] |
Chr1:156868191 [GRCh38]
Chr1:156837983 [GRCh37]
Chr1:155104607 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_002529.4(NTRK1):c.1354+13_1634del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000055678] |
Chr1:156875018..156876398 [GRCh38]
Chr1:156844810..156846190 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1177+31C>T |
single nucleotide variant |
not provided [RCV003222641] |
Chr1:156873990 [GRCh38]
Chr1:156843782 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1887C>T (p.Ala629=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000287221]|not provided [RCV004714496]|not specified [RCV000516727] |
Chr1:156879203 [GRCh38]
Chr1:156848995 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.2047-16T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001532841]|not provided [RCV004714497]|not specified [RCV000174854] |
Chr1:156879983 [GRCh38]
Chr1:156849775 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.2052A>G (p.Gly684=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000281203]|NTRK1-related disorder [RCV003965061]|not provided [RCV004713339]|not specified [RCV001657791] |
Chr1:156880004 [GRCh38]
Chr1:156849796 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.1946G>A (p.Arg649Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001235402]|not provided [RCV000171160] |
Chr1:156879262 [GRCh38]
Chr1:156849054 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
| NM_002529.4(NTRK1):c.717+4A>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000148945] |
Chr1:156868651 [GRCh38]
Chr1:156838443 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1550G>A (p.Gly517Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000148946] |
Chr1:156876128 [GRCh38]
Chr1:156845920 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|not provided |
| NM_014215.3(INSRR):c.430A>G (p.Asn144Asp) |
single nucleotide variant |
not specified [RCV004258814] |
Chr1:156853959 [GRCh38]
Chr1:156823751 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1393T>C (p.Ser465Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002001821] |
Chr1:156875558 [GRCh38]
Chr1:156845350 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3484G>A (p.Glu1162Lys) |
single nucleotide variant |
not specified [RCV004250060] |
Chr1:156841708 [GRCh38]
Chr1:156811500 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2062T>C (p.Cys688Arg) |
single nucleotide variant |
not specified [RCV004250750] |
Chr1:156845731 [GRCh38]
Chr1:156815523 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.229A>T (p.Thr77Ser) |
single nucleotide variant |
not specified [RCV004249111] |
Chr1:156854160 [GRCh38]
Chr1:156823952 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.710C>T (p.Thr237Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000394770]|not provided [RCV000224131]|not specified [RCV000179356] |
Chr1:156868640 [GRCh38]
Chr1:156838432 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014215.3(INSRR):c.584C>A (p.Thr195Asn) |
single nucleotide variant |
not specified [RCV004278257] |
Chr1:156853805 [GRCh38]
Chr1:156823597 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2057G>A (p.Arg686His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000528062]|Inborn genetic diseases [RCV002415745]|not provided [RCV000174855]|not specified [RCV001797660] |
Chr1:156880009 [GRCh38]
Chr1:156849801 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 |
copy number gain |
See cases [RCV000139902] |
Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1 |
pathogenic |
| GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2 |
pathogenic |
| NM_002529.4(NTRK1):c.1522C>A (p.Arg508=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000391150]|Inborn genetic diseases [RCV002392824]|NTRK1-related disorder [RCV003957532]|not specified [RCV000608164] |
Chr1:156876100 [GRCh38]
Chr1:156845892 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1236C>T (p.Asp412=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000401539]|Inborn genetic diseases [RCV002365334]|NTRK1-related disorder [RCV003940087]|not specified [RCV000433535] |
Chr1:156874611 [GRCh38]
Chr1:156844403 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.360-2A>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000191113] |
Chr1:156866908 [GRCh38]
Chr1:156836700 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.1040G>C (p.Arg347Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000191114] |
Chr1:156873822 [GRCh38]
Chr1:156843614 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1252-15C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000297900]|not specified [RCV000444270] |
Chr1:156874891 [GRCh38]
Chr1:156844683 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708810]|Hereditary insensitivity to pain with anhidrosis [RCV000291812]|Inborn genetic diseases [RCV002348032]|NTRK1-related disorder [RCV003897665]|not provided [RCV001509068] |
Chr1:156868245 [GRCh38]
Chr1:156838037 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.375C>T (p.Asn125=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000274129]|Inborn genetic diseases [RCV002365331] |
Chr1:156866925 [GRCh38]
Chr1:156836717 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1728C>T (p.Phe576=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000275643]|Inborn genetic diseases [RCV002402009]|not provided [RCV001706435] |
Chr1:156876495 [GRCh38]
Chr1:156846287 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000285911]|Inborn genetic diseases [RCV002365333]|not provided [RCV000489659] |
Chr1:156868571 [GRCh38]
Chr1:156838363 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.212+10C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000259624]|not provided [RCV001706433]|not specified [RCV000440141] |
Chr1:156861156 [GRCh38]
Chr1:156830948 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.2047-11G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000377964]|not provided [RCV001668637] |
Chr1:156879988 [GRCh38]
Chr1:156879988..156879989 [GRCh38]
Chr1:156849780 [GRCh37]
Chr1:156849780..156849781 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.1860C>T (p.Gly620=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000379244]|not provided [RCV001668636]|not specified [RCV001706436] |
Chr1:156879176 [GRCh38]
Chr1:156848968 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.631G>A (p.Val211Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000382485]|Inborn genetic diseases [RCV002365332]|not provided [RCV001509069] |
Chr1:156868561 [GRCh38]
Chr1:156838353 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.509T>C (p.Val170Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000383811]|Inborn genetic diseases [RCV002338871]|not provided [RCV000596082] |
Chr1:156868184 [GRCh38]
Chr1:156837976 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708821]|Hereditary insensitivity to pain with anhidrosis [RCV000366642]|Inborn genetic diseases [RCV002411184]|not provided [RCV000591215] |
Chr1:156879124 [GRCh38]
Chr1:156848916 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1674G>A (p.Gln558=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000366755]|not provided [RCV001683171]|not specified [RCV000518637] |
Chr1:156876441 [GRCh38]
Chr1:156846233 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.288-8C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000369433]|not provided [RCV004713523]|not specified [RCV000431726] |
Chr1:156864720 [GRCh38]
Chr1:156834512 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.2202G>A (p.Thr734=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000372018]|not provided [RCV004713525]|not specified [RCV000439601] |
Chr1:156880154 [GRCh38]
Chr1:156849946 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.65T>A (p.Leu22Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000525243] |
Chr1:156860999 [GRCh38]
Chr1:156830791 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000299635]|Inborn genetic diseases [RCV002408936]|NTRK1-related disorder [RCV003947731]|not provided [RCV000755590]|not specified [RCV000220958] |
Chr1:156860950 [GRCh38]
Chr1:156830742 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708820]|Hereditary insensitivity to pain with anhidrosis [RCV001276831]|Inborn genetic diseases [RCV002399797]|not provided [RCV000221544] |
Chr1:156876428 [GRCh38]
Chr1:156846220 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000545651]|NTRK1-related disorder [RCV003929930]|not provided [RCV000224279]|not specified [RCV000236228] |
Chr1:156881590 [GRCh38]
Chr1:156851382 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1995G>A (p.Lys665=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000321020]|Inborn genetic diseases [RCV002418143] |
Chr1:156879311 [GRCh38]
Chr1:156849103 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.470G>A (p.Arg157His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000509462]|Inborn genetic diseases [RCV002338770]|not provided [RCV000235585] |
Chr1:156868145 [GRCh38]
Chr1:156837937 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance|not provided |
| NM_002529.4(NTRK1):c.1444A>T (p.Lys482Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003987474]|not provided [RCV000235671] |
Chr1:156875609 [GRCh38]
Chr1:156845401 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000985097]|not provided [RCV000236167] |
Chr1:156868201 [GRCh38]
Chr1:156837993 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.505G>A (p.Gly169Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631353]|Inborn genetic diseases [RCV002338773]|not provided [RCV001310877] |
Chr1:156868180 [GRCh38]
Chr1:156837972 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) |
single nucleotide variant |
Hereditary cancer [RCV003492017]|Hereditary insensitivity to pain with anhidrosis [RCV000284934]|Inborn genetic diseases [RCV002374386]|NTRK1-related disorder [RCV003919995]|not provided [RCV000236758]|not specified [RCV001658074] |
Chr1:156873647 [GRCh38]
Chr1:156843439 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.254G>A (p.Arg85His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000861307]|Inborn genetic diseases [RCV002436060]|not provided [RCV001705314]|not specified [RCV000236816] |
Chr1:156864395 [GRCh38]
Chr1:156834187 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.560C>T (p.Pro187Leu) |
single nucleotide variant |
not provided [RCV000237001] |
Chr1:156868235 [GRCh38]
Chr1:156838027 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708814]|Hereditary insensitivity to pain with anhidrosis [RCV001079270]|not provided [RCV000237064] |
Chr1:156873722 [GRCh38]
Chr1:156843514 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708816]|Hereditary insensitivity to pain with anhidrosis [RCV000555707]|not provided [RCV003409766] |
Chr1:156874392 [GRCh38]
Chr1:156844184 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.428+12C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000331492]|not provided [RCV004710724]|not specified [RCV000420772] |
Chr1:156866990 [GRCh38]
Chr1:156836782 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.585G>A (p.Thr195=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000325504]|Inborn genetic diseases [RCV002356403]|NTRK1-related disorder [RCV003967821]|not provided [RCV001576585] |
Chr1:156868515 [GRCh38]
Chr1:156838307 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1080G>A (p.Thr360=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000337494]|not provided [RCV001706434] |
Chr1:156873862 [GRCh38]
Chr1:156843654 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.2169C>T (p.Tyr723=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000338627]|Inborn genetic diseases [RCV002429243]|not provided [RCV003884447]|not specified [RCV000426510] |
Chr1:156880121 [GRCh38]
Chr1:156849913 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1806-4del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000328341]|Inborn genetic diseases [RCV002411183]|not provided [RCV000712457] |
Chr1:156879118 [GRCh38]
Chr1:156848910 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.658C>T (p.Arg220Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000343152] |
Chr1:156868588 [GRCh38]
Chr1:156838380 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.287+12G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000317086]|not provided [RCV001668635] |
Chr1:156864440 [GRCh38]
Chr1:156834232 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2355C>T (p.Ala785=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000351346]|Inborn genetic diseases [RCV002446538] |
Chr1:156881606 [GRCh38]
Chr1:156851398 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.604A>G (p.Asn202Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000536192] |
Chr1:156868534 [GRCh38]
Chr1:156838326 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.450G>T (p.Leu150=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000537111]|Inborn genetic diseases [RCV002341260] |
Chr1:156868125 [GRCh38]
Chr1:156837917 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1331G>A (p.Arg444Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000355086]|not provided [RCV004713524]|not specified [RCV000432013] |
Chr1:156874985 [GRCh38]
Chr1:156844777 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.157G>C (p.Asp53His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000356782]|Inborn genetic diseases [RCV002402008]|NTRK1-related disorder [RCV003957531]|not provided [RCV001532556] |
Chr1:156861091 [GRCh38]
Chr1:156830883 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.957C>T (p.Gly319=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000553898]|Inborn genetic diseases [RCV002384047] |
Chr1:156873739 [GRCh38]
Chr1:156843531 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.718-79G>A |
single nucleotide variant |
not provided [RCV001544633] |
Chr1:156871544 [GRCh38]
Chr1:156841336 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2046+1G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000539540] |
Chr1:156879363 [GRCh38]
Chr1:156849155 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1437C>T (p.Thr479=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001485137]|Inborn genetic diseases [RCV002395291]|not provided [RCV004568729] |
Chr1:156875602 [GRCh38]
Chr1:156845394 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.*6C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000400460]|not provided [RCV000598277] |
Chr1:156881648 [GRCh38]
Chr1:156851440 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.*56C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000312439] |
Chr1:156881698 [GRCh38]
Chr1:156851490 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.10G>A (p.Gly4Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001085520]|Inborn genetic diseases [RCV002429232]|NTRK1-related disorder [RCV003967790]|not provided [RCV000346219] |
Chr1:156860944 [GRCh38]
Chr1:156830736 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.2299G>C (p.Glu767Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000280018] |
Chr1:156881550 [GRCh38]
Chr1:156851342 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1196-9T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280004] |
Chr1:156874562 [GRCh38]
Chr1:156844354 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1521C>T (p.Arg507=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280006] |
Chr1:156876099 [GRCh38]
Chr1:156845891 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.520A>G (p.Lys174Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001279997] |
Chr1:156868195 [GRCh38]
Chr1:156837987 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.956G>A (p.Gly319Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280000] |
Chr1:156873738 [GRCh38]
Chr1:156843530 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1569G>A (p.Lys523=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280008] |
Chr1:156876147 [GRCh38]
Chr1:156845939 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1177+69A>G |
single nucleotide variant |
not provided [RCV001571637] |
Chr1:156874028 [GRCh38]
Chr1:156843820 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.435G>A (p.Leu145=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003774976]|not provided [RCV002292746] |
Chr1:156868110 [GRCh38]
Chr1:156837902 [GRCh37]
Chr1:1q23.1 |
likely benign |
| Single allele |
inversion |
Pediatric metastatic thyroid tumour [RCV000585807] |
Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1632+4A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000315568] |
Chr1:156876214 [GRCh38]
Chr1:156846006 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.*96G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000346300] |
Chr1:156881738 [GRCh38]
Chr1:156851530 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.295G>A (p.Val99Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000559579]|Inborn genetic diseases [RCV002438295]|not provided [RCV001532557] |
Chr1:156864735 [GRCh38]
Chr1:156834527 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2214C>T (p.Asp738=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001099783] |
Chr1:156881465 [GRCh38]
Chr1:156851257 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.2248C>T (p.Arg750Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001099784] |
Chr1:156881499 [GRCh38]
Chr1:156851291 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.482G>A (p.Arg161His) |
single nucleotide variant |
Hereditary cancer [RCV003492037]|Hereditary insensitivity to pain with anhidrosis [RCV000547738]|not provided [RCV000431011] |
Chr1:156868157 [GRCh38]
Chr1:156837949 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003975.4(SH2D2A):c.123+181C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001537654]|X-linked lymphoproliferative disease due to SH2D1A deficiency [RCV003316543]|not provided [RCV004715157]|not specified [RCV000434139] |
Chr1:156815825 [GRCh38]
Chr1:156785617 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.-44C>T |
single nucleotide variant |
not specified [RCV000441510] |
Chr1:156860891 [GRCh38]
Chr1:156830683 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2047-6T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631339]|not specified [RCV000438099] |
Chr1:156879993 [GRCh38]
Chr1:156849785 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.*7G>T |
single nucleotide variant |
NTRK1-related disorder [RCV003972648]|not specified [RCV000438564] |
Chr1:156881649 [GRCh38]
Chr1:156851441 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1077C>T (p.Tyr359=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003338586]|Inborn genetic diseases [RCV002418269]|not specified [RCV000438879] |
Chr1:156873859 [GRCh38]
Chr1:156843651 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.531T>C (p.Cys177=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000893852]|Inborn genetic diseases [RCV002348230]|not specified [RCV000442776] |
Chr1:156868206 [GRCh38]
Chr1:156837998 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1354+8G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001459692]|not specified [RCV000421652] |
Chr1:156875016 [GRCh38]
Chr1:156844808 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001084241]|not provided [RCV000712456] |
Chr1:156881523 [GRCh38]
Chr1:156851315 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.428+12C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002060028]|not specified [RCV000428796] |
Chr1:156866990 [GRCh38]
Chr1:156836782 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.574+10G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631340]|not specified [RCV000429168] |
Chr1:156868259 [GRCh38]
Chr1:156838051 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1354+18A>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001803718]|not provided [RCV001703559] |
Chr1:156875026 [GRCh38]
Chr1:156844818 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.2067G>A (p.Leu689=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000538643]|Inborn genetic diseases [RCV002418277]|not specified [RCV000436264] |
Chr1:156880019 [GRCh38]
Chr1:156849811 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1908G>A (p.Ala636=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001080490]|not provided [RCV000524698] |
Chr1:156879224 [GRCh38]
Chr1:156849016 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.-39A>G |
single nucleotide variant |
not provided [RCV001718858] |
Chr1:156860896 [GRCh38]
Chr1:156830688 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1068C>T (p.Asn356=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001086612]|Inborn genetic diseases [RCV002411348]|NTRK1-related disorder [RCV003970169]|not provided [RCV000631344]|not specified [RCV000432784] |
Chr1:156873850 [GRCh38]
Chr1:156843642 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.321G>T (p.Ala107=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001451570]|Inborn genetic diseases [RCV002446669]|not specified [RCV000432844] |
Chr1:156864761 [GRCh38]
Chr1:156834553 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.612G>A (p.Ser204=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631356]|Inborn genetic diseases [RCV002356568]|NTRK1-related disorder [RCV003932629]|not provided [RCV003409598]|not specified [RCV000422831] |
Chr1:156868542 [GRCh38]
Chr1:156838334 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.291C>T (p.Thr97=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003766354]|not specified [RCV000441138] |
Chr1:156864731 [GRCh38]
Chr1:156834523 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.630C>T (p.Asp210=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000551084]|Inborn genetic diseases [RCV002365473]|NTRK1-related disorder [RCV003922714]|not provided [RCV001703479] |
Chr1:156868560 [GRCh38]
Chr1:156838352 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.632T>A (p.Val211Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001828497]|not provided [RCV000484442] |
Chr1:156868562 [GRCh38]
Chr1:156838354 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789503]|Hereditary insensitivity to pain with anhidrosis [RCV000631332]|not provided [RCV000486476]|not specified [RCV003317235] |
Chr1:156875639 [GRCh38]
Chr1:156845431 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_002529.4(NTRK1):c.787G>C (p.Val263Leu) |
single nucleotide variant |
not provided [RCV000494548] |
Chr1:156871692 [GRCh38]
Chr1:156841484 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.119_120insT (p.Cys41fs) |
insertion |
not provided [RCV000493283] |
Chr1:156861053..156861054 [GRCh38]
Chr1:156830845..156830846 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.676G>A (p.Gly226Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001248539] |
Chr1:156868606 [GRCh38]
Chr1:156838398 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_014215.3(INSRR):c.1020G>A (p.Ala340=) |
single nucleotide variant |
not provided [RCV003312141] |
Chr1:156851710 [GRCh38]
Chr1:156821502 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.905C>A (p.Ala302Asp) |
single nucleotide variant |
not specified [RCV004313066] |
Chr1:156851924 [GRCh38]
Chr1:156821716 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2119G>A (p.Glu707Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631320]|Premature ovarian failure [RCV001270189]|not specified [RCV004525991] |
Chr1:156880071 [GRCh38]
Chr1:156849863 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.2297G>A (p.Arg766Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631324] |
Chr1:156881548 [GRCh38]
Chr1:156851340 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.356G>A (p.Arg119His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631325]|Inborn genetic diseases [RCV002457994] |
Chr1:156864796 [GRCh38]
Chr1:156834588 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1778G>A (p.Arg593Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631318]|Inborn genetic diseases [RCV002404734] |
Chr1:156876545 [GRCh38]
Chr1:156846337 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1796G>A (p.Arg599His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631322]|Inborn genetic diseases [RCV002404735] |
Chr1:156876563 [GRCh38]
Chr1:156846355 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.239A>G (p.Gln80Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631333]|Inborn genetic diseases [RCV003380644] |
Chr1:156864380 [GRCh38]
Chr1:156834172 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2383C>G (p.Leu795Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631336] |
Chr1:156881634 [GRCh38]
Chr1:156851426 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631349]|Inborn genetic diseases [RCV002343202]|not provided [RCV003326479] |
Chr1:156868505 [GRCh38]
Chr1:156838297 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014215.3(INSRR):c.3028G>A (p.Val1010Met) |
single nucleotide variant |
not specified [RCV004301507] |
Chr1:156843102 [GRCh38]
Chr1:156812894 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.718-15T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001868066]|not specified [RCV000606662] |
Chr1:156871608 [GRCh38]
Chr1:156841400 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1039C>G (p.Arg347Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631327]|Inborn genetic diseases [RCV002388004] |
Chr1:156873821 [GRCh38]
Chr1:156843613 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.12C>T (p.Gly4=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631328] |
Chr1:156860946 [GRCh38]
Chr1:156830738 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1741G>A (p.Glu581Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631329]|Inborn genetic diseases [RCV002404736]|not provided [RCV001796146] |
Chr1:156876508 [GRCh38]
Chr1:156846300 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2085G>A (p.Pro695=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631341]|Inborn genetic diseases [RCV002420676] |
Chr1:156880037 [GRCh38]
Chr1:156849829 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.891C>T (p.His297=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631347]|Inborn genetic diseases [RCV002377354] |
Chr1:156873673 [GRCh38]
Chr1:156843465 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2086_2112del (p.Pro696_Phe704del) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000631319]|Inborn genetic diseases [RCV002420675] |
Chr1:156880038..156880064 [GRCh38]
Chr1:156849830..156849856 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.253C>T (p.Arg85Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631323]|Inborn genetic diseases [RCV002533179] |
Chr1:156864394 [GRCh38]
Chr1:156834186 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.926C>T (p.Pro309Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631330] |
Chr1:156873708 [GRCh38]
Chr1:156843500 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790288]|Hereditary insensitivity to pain with anhidrosis [RCV000631337]|Inborn genetic diseases [RCV002360506] |
Chr1:156868568 [GRCh38]
Chr1:156838360 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.2265G>A (p.Glu755=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631342]|Inborn genetic diseases [RCV002431860] |
Chr1:156881516 [GRCh38]
Chr1:156851308 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2088C>T (p.Pro696=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631343]|Inborn genetic diseases [RCV002420677] |
Chr1:156880040 [GRCh38]
Chr1:156849832 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1161C>T (p.Pro387=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631350]|Inborn genetic diseases [RCV002358761] |
Chr1:156873943 [GRCh38]
Chr1:156843735 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3538G>C (p.Val1180Leu) |
single nucleotide variant |
not specified [RCV004299077] |
Chr1:156841518 [GRCh38]
Chr1:156811310 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2019G>A (p.Arg673=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631345]|Inborn genetic diseases [RCV002420678] |
Chr1:156879335 [GRCh38]
Chr1:156849127 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2206-11G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002531895]|Inborn genetic diseases [RCV000624785] |
Chr1:156881446 [GRCh38]
Chr1:156851238 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.-28C>A |
single nucleotide variant |
not specified [RCV000609853] |
Chr1:156860907 [GRCh38]
Chr1:156830699 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.711G>A (p.Thr237=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631351]|Inborn genetic diseases [RCV002368096]|not provided [RCV001698032] |
Chr1:156868641 [GRCh38]
Chr1:156838433 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.1557C>T (p.Gly519=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000951384]|Inborn genetic diseases [RCV002404682]|not provided [RCV001719038] |
Chr1:156876135 [GRCh38]
Chr1:156845927 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1257G>A (p.Ser419=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000870873]|Inborn genetic diseases [RCV002377323]|not specified [RCV000608351] |
Chr1:156874911 [GRCh38]
Chr1:156844703 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.571T>C (p.Cys191Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002531896]|Inborn genetic diseases [RCV000622925]|not specified [RCV002248821] |
Chr1:156868246 [GRCh38]
Chr1:156838038 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.279G>A (p.Leu93=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631348]|Inborn genetic diseases [RCV002438596]|not provided [RCV001310876]|not specified [RCV000601111] |
Chr1:156864420 [GRCh38]
Chr1:156834212 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_014215.3(INSRR):c.1786G>A (p.Val596Ile) |
single nucleotide variant |
not provided [RCV003410317]|not specified [RCV004288621] |
Chr1:156846543 [GRCh38]
Chr1:156816335 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.941G>A (p.Arg314His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631321]|Inborn genetic diseases [RCV002377352]|not provided [RCV001509070] |
Chr1:156873723 [GRCh38]
Chr1:156843515 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.875C>T (p.Thr292Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631326]|Inborn genetic diseases [RCV002377353]|NTRK1-related disorder [RCV003411494] |
Chr1:156873657 [GRCh38]
Chr1:156843449 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1525G>A (p.Asp509Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631331] |
Chr1:156876103 [GRCh38]
Chr1:156845895 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.640C>T (p.Arg214Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631334]|Inborn genetic diseases [RCV002360505] |
Chr1:156868570 [GRCh38]
Chr1:156838362 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.140G>C (p.Gly47Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631335] |
Chr1:156861074 [GRCh38]
Chr1:156830866 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1522C>T (p.Arg508Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631338]|Inborn genetic diseases [RCV002388005] |
Chr1:156876100 [GRCh38]
Chr1:156845892 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.549G>T (p.Leu183=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631346]|Inborn genetic diseases [RCV002343201]|not provided [RCV001550544] |
Chr1:156868224 [GRCh38]
Chr1:156838016 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2142C>T (p.Gly714=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631354]|Inborn genetic diseases [RCV002420679] |
Chr1:156880094 [GRCh38]
Chr1:156849886 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1939G>T (p.Val647Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000685871]|Inborn genetic diseases [RCV002406534]|not provided [RCV003884703] |
Chr1:156879255 [GRCh38]
Chr1:156849047 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_001007792.1(NTRK1):c.24C>A (p.Cys8Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000670814] |
Chr1:156842095 [GRCh38]
Chr1:156811887 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000674105]|Inborn genetic diseases [RCV002442399] |
Chr1:156881532 [GRCh38]
Chr1:156851324 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1196-1G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000668622] |
Chr1:156874570 [GRCh38]
Chr1:156844362 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.1428_1430dup (p.Ser477dup) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV000667282]|Inborn genetic diseases [RCV002388177] |
Chr1:156875592..156875593 [GRCh38]
Chr1:156845384..156845385 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.33C>A (p.Pro11=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000667449] |
Chr1:156842104 [GRCh38]
Chr1:156811896 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.628G>T (p.Asp210Tyr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000698583] |
Chr1:156868558 [GRCh38]
Chr1:156838350 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1310_1313dup (p.Leu439fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV000701106] |
Chr1:156874963..156874964 [GRCh38]
Chr1:156844755..156844756 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.662G>T (p.Gly221Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000686886]|Inborn genetic diseases [RCV004639321] |
Chr1:156868592 [GRCh38]
Chr1:156838384 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 |
copy number loss |
not provided [RCV000684658] |
Chr1:155636337..158024499 [GRCh37]
Chr1:1q22-23.1 |
pathogenic |
| GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3 |
copy number gain |
not provided [RCV000684659] |
Chr1:155999570..156844432 [GRCh37]
Chr1:1q22-23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1037T>C (p.Leu346Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002534507]|not provided [RCV000712452] |
Chr1:156873819 [GRCh38]
Chr1:156843611 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.2141G>A (p.Gly714Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003444655]|not provided [RCV000712455] |
Chr1:156880093 [GRCh38]
Chr1:156849885 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1659del (p.Arg554fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000703050] |
Chr1:156876426 [GRCh38]
Chr1:156846218 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1359G>A (p.Pro453=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000701019]|Inborn genetic diseases [RCV002386243] |
Chr1:156875524 [GRCh38]
Chr1:156845316 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2362C>T (p.Pro788Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000686942] |
Chr1:156881613 [GRCh38]
Chr1:156851405 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1390A>T (p.Met464Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000686944] |
Chr1:156875555 [GRCh38]
Chr1:156845347 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.32C>T (p.Pro11Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000986435] |
Chr1:156842103 [GRCh38]
Chr1:156811895 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.37del (p.Val13fs) |
deletion |
Familial medullary thyroid carcinoma [RCV000708802] |
Chr1:156842108 [GRCh38]
Chr1:156811900 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.119C>A (p.Ala40Glu) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708803]|not provided [RCV001726315] |
Chr1:156842190 [GRCh38]
Chr1:156811982 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789505]|Hereditary insensitivity to pain with anhidrosis [RCV000986439]|Inborn genetic diseases [RCV002424729]|not specified [RCV001585661] |
Chr1:156864394 [GRCh38]
Chr1:156834186 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708807]|Hereditary insensitivity to pain with anhidrosis [RCV000804531] |
Chr1:156864795 [GRCh38]
Chr1:156834587 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.422A>C (p.Gln141Pro) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708808]|Hereditary insensitivity to pain with anhidrosis [RCV001372807] |
Chr1:156866972 [GRCh38]
Chr1:156836764 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1381G>A (p.Gly461Arg) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708817]|Hereditary insensitivity to pain with anhidrosis [RCV001280005] |
Chr1:156875546 [GRCh38]
Chr1:156845338 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1463G>A (p.Gly488Asp) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708818]|Hereditary insensitivity to pain with anhidrosis [RCV002532886] |
Chr1:156875628 [GRCh38]
Chr1:156845420 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1525G>C (p.Asp509His) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708819]|Hereditary insensitivity to pain with anhidrosis [RCV001280007]|Inborn genetic diseases [RCV002388349] |
Chr1:156876103 [GRCh38]
Chr1:156845895 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2105G>A (p.Arg702His) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708822]|Hereditary insensitivity to pain with anhidrosis [RCV000764986]|Hereditary insensitivity to pain with anhidrosis [RCV003344020]|Inborn genetic diseases [RCV004026759] |
Chr1:156880057 [GRCh38]
Chr1:156849849 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.341C>G (p.Thr114Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000794836] |
Chr1:156864781 [GRCh38]
Chr1:156834573 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1738A>T (p.Thr580Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000704949] |
Chr1:156876505 [GRCh38]
Chr1:156846297 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.844G>A (p.Val282Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000693690]|Inborn genetic diseases [RCV003380683] |
Chr1:156871749 [GRCh38]
Chr1:156841541 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2015G>A (p.Ser672Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000691300] |
Chr1:156879331 [GRCh38]
Chr1:156849123 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2143G>A (p.Val715Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000691409] |
Chr1:156880095 [GRCh38]
Chr1:156849887 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.1196-3_1196-1del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000703158] |
Chr1:156874568..156874570 [GRCh38]
Chr1:156844360..156844362 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.236T>A (p.Leu79Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000697712]|Inborn genetic diseases [RCV002458262]|not provided [RCV004721560] |
Chr1:156864377 [GRCh38]
Chr1:156834169 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2335_2362del (p.Ala779fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000703425] |
Chr1:156881582..156881609 [GRCh38]
Chr1:156851374..156851401 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.320C>T (p.Ala107Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000700542]|Inborn genetic diseases [RCV002442497] |
Chr1:156864760 [GRCh38]
Chr1:156834552 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1301C>T (p.Thr434Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000689778]|Inborn genetic diseases [RCV002386184] |
Chr1:156874955 [GRCh38]
Chr1:156844747 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_001012331.1(NTRK1):c.2028+3A>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000706507] |
Chr1:156879365 [GRCh38]
Chr1:156849157 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_001007792.1(NTRK1):c.10-562dup |
duplication |
Familial medullary thyroid carcinoma [RCV000708800]|not provided [RCV004691291] |
Chr1:156841518..156841519 [GRCh38]
Chr1:156811310..156811311 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.584C>T (p.Thr195Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000796733]|Inborn genetic diseases [RCV002352226] |
Chr1:156868514 [GRCh38]
Chr1:156838306 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.842A>G (p.Asn281Ser) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708812]|Hereditary insensitivity to pain with anhidrosis [RCV001279999]|not provided [RCV001553054] |
Chr1:156871747 [GRCh38]
Chr1:156841539 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1120A>G (p.Ile374Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000986441] |
Chr1:156873902 [GRCh38]
Chr1:156843694 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.202C>G (p.Leu68Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000701815] |
Chr1:156861136 [GRCh38]
Chr1:156830928 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1517A>G (p.Lys506Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000689999] |
Chr1:156876095 [GRCh38]
Chr1:156845887 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1114G>A (p.Ala372Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000687922] |
Chr1:156873896 [GRCh38]
Chr1:156843688 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.185T>C (p.Leu62Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000695151]|Inborn genetic diseases [RCV002406595]|not provided [RCV001756200] |
Chr1:156861119 [GRCh38]
Chr1:156830911 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1795C>T (p.Arg599Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000695386]|Inborn genetic diseases [RCV003258932] |
Chr1:156876562 [GRCh38]
Chr1:156846354 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.424G>T (p.Glu142Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000691155] |
Chr1:156866974 [GRCh38]
Chr1:156836766 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.682A>G (p.Ile228Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000696438] |
Chr1:156868612 [GRCh38]
Chr1:156838404 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1826A>G (p.Lys609Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000699603] |
Chr1:156879142 [GRCh38]
Chr1:156848934 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000700548]|Inborn genetic diseases [RCV004026517]|not provided [RCV002263945] |
Chr1:156868589 [GRCh38]
Chr1:156838381 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1986GGT[3] (p.Val664dup) |
microsatellite |
Hereditary insensitivity to pain with anhidrosis [RCV000706156] |
Chr1:156879300..156879301 [GRCh38]
Chr1:156849092..156849093 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1720C>T (p.Arg574Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000703649] |
Chr1:156876487 [GRCh38]
Chr1:156846279 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| LMNA-NTRK1 fusion |
fusion |
Congenital fibrosarcoma [RCV000754610] |
Chr1:156100565..156844697 [GRCh37]
Chr1:1q22-23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2046+170C>T |
single nucleotide variant |
not provided [RCV001540670] |
Chr1:156879532 [GRCh38]
Chr1:156849324 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.453C>T (p.His151=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000871365] |
Chr1:156868128 [GRCh38]
Chr1:156837920 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_001007792.1(NTRK1):c.10-67C>G |
single nucleotide variant |
not provided [RCV001585503] |
Chr1:156842014 [GRCh38]
Chr1:156811806 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003975.4(SH2D2A):c.84C>T (p.Asp28=) |
single nucleotide variant |
not provided [RCV001532551] |
Chr1:156816045 [GRCh38]
Chr1:156785837 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3265T>C (p.Leu1089=) |
single nucleotide variant |
not provided [RCV001532552] |
Chr1:156842244 [GRCh38]
Chr1:156812036 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1805G>A (p.Arg602Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002538629]|not provided [RCV001700866] |
Chr1:156876572 [GRCh38]
Chr1:156846364 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.850+323C>T |
single nucleotide variant |
not provided [RCV001534560] |
Chr1:156872078 [GRCh38]
Chr1:156841870 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1779G>A (p.Arg593=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002065899] |
Chr1:156876546 [GRCh38]
Chr1:156846338 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2169C>A (p.Tyr723Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001580750] |
Chr1:156880121 [GRCh38]
Chr1:156849913 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.2383C>T (p.Leu795=) |
single nucleotide variant |
not provided [RCV000917841] |
Chr1:156881634 [GRCh38]
Chr1:156851426 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_001007792.1(NTRK1):c.9+133del |
deletion |
not provided [RCV001610834] |
Chr1:156815971 [GRCh38]
Chr1:156785763 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1804C>T (p.Arg602Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789608]|Hereditary insensitivity to pain with anhidrosis [RCV001222355]|not provided [RCV000760429] |
Chr1:156876571 [GRCh38]
Chr1:156846363 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.1858G>T (p.Gly620Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001068171] |
Chr1:156879174 [GRCh38]
Chr1:156848966 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.123-3611G>T |
single nucleotide variant |
not provided [RCV001577036] |
Chr1:156860743 [GRCh38]
Chr1:156830535 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1919A>G (p.Tyr640Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001065765] |
Chr1:156879235 [GRCh38]
Chr1:156849027 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.428+197A>G |
single nucleotide variant |
not provided [RCV001612041] |
Chr1:156867175 [GRCh38]
Chr1:156836967 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_001007792.1(NTRK1):c.122+160G>C |
single nucleotide variant |
not provided [RCV001547631] |
Chr1:156842353 [GRCh38]
Chr1:156812145 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2170G>A (p.Gly724Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001030785] |
Chr1:156880122 [GRCh38]
Chr1:156849914 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.1039C>T (p.Arg347Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001045495] |
Chr1:156873821 [GRCh38]
Chr1:156843613 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.468G>C (p.Leu156=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001096153] |
Chr1:156868143 [GRCh38]
Chr1:156837935 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1354+179A>C |
single nucleotide variant |
not provided [RCV001549619] |
Chr1:156875187 [GRCh38]
Chr1:156844979 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.1281C>G (p.Ser427=) |
single nucleotide variant |
not provided [RCV000905951] |
Chr1:156849409 [GRCh38]
Chr1:156819201 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1101C>T (p.Phe367=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000951041]|not provided [RCV003411911] |
Chr1:156873883 [GRCh38]
Chr1:156843675 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.618T>C (p.Asp206=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001429239] |
Chr1:156868548 [GRCh38]
Chr1:156838340 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1697T>C (p.Met566Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000877342]|NTRK1-related disorder [RCV003948255] |
Chr1:156876464 [GRCh38]
Chr1:156846256 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3513C>T (p.Thr1171=) |
single nucleotide variant |
not provided [RCV000902371] |
Chr1:156841679 [GRCh38]
Chr1:156811471 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.306T>A (p.Gly102=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001418464] |
Chr1:156864746 [GRCh38]
Chr1:156834538 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.711G>C (p.Thr237=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001408339] |
Chr1:156868641 [GRCh38]
Chr1:156838433 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1252-8C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001446227] |
Chr1:156874898 [GRCh38]
Chr1:156844690 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2382C>T (p.Val794=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001488969] |
Chr1:156881633 [GRCh38]
Chr1:156851425 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1020C>T (p.Thr340=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000941883] |
Chr1:156873802 [GRCh38]
Chr1:156843594 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1143C>T (p.Asn381=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001425269] |
Chr1:156873925 [GRCh38]
Chr1:156843717 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1902C>T (p.Val634=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000882133] |
Chr1:156879218 [GRCh38]
Chr1:156849010 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.501G>A (p.Leu167=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000944172] |
Chr1:156868176 [GRCh38]
Chr1:156837968 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.213-8C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000925123] |
Chr1:156864346 [GRCh38]
Chr1:156834138 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.1113C>T (p.Ser371=) |
single nucleotide variant |
not provided [RCV000883961] |
Chr1:156851406 [GRCh38]
Chr1:156821198 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1650C>G (p.Ser550=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000921768] |
Chr1:156876417 [GRCh38]
Chr1:156846209 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1752C>G (p.Pro584=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001396311] |
Chr1:156876519 [GRCh38]
Chr1:156846311 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1734C>G (p.Val578=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001276832] |
Chr1:156876501 [GRCh38]
Chr1:156846293 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.219C>T (p.Ile73=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000876073]|Inborn genetic diseases [RCV002539999] |
Chr1:156864360 [GRCh38]
Chr1:156834152 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1481C>A (p.Pro494Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001071155] |
Chr1:156875646 [GRCh38]
Chr1:156845438 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.867G>C (p.Gln289His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001041765]|Inborn genetic diseases [RCV002445233] |
Chr1:156873649 [GRCh38]
Chr1:156843441 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.453C>G (p.His151Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001061901]|Inborn genetic diseases [RCV002339303] |
Chr1:156868128 [GRCh38]
Chr1:156837920 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.478C>T (p.Gln160Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001059110] |
Chr1:156868153 [GRCh38]
Chr1:156837945 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.850+127G>A |
single nucleotide variant |
not provided [RCV000826515] |
Chr1:156871882 [GRCh38]
Chr1:156841674 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1220C>T (p.Pro407Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000792399]|Inborn genetic diseases [RCV002343645] |
Chr1:156874595 [GRCh38]
Chr1:156844387 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1555G>C (p.Gly519Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789506] |
Chr1:156876133 [GRCh38]
Chr1:156845925 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2308C>T (p.Gln770Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789507]|Hereditary insensitivity to pain with anhidrosis [RCV002535803] |
Chr1:156881559 [GRCh38]
Chr1:156851351 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.1690C>T (p.Leu564Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789664] |
Chr1:156876457 [GRCh38]
Chr1:156846249 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.543del (p.Leu183fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790137]|Hereditary insensitivity to pain with anhidrosis [RCV000807150] |
Chr1:156868216 [GRCh38]
Chr1:156838008 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.359+5G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790138]|not provided [RCV001701318] |
Chr1:156864804 [GRCh38]
Chr1:156834596 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.2344C>T (p.Gln782Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790139] |
Chr1:156881595 [GRCh38]
Chr1:156851387 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2289C>G (p.Cys763Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790287] |
Chr1:156881540 [GRCh38]
Chr1:156851332 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.602C>A (p.Pro201His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000810037]|Inborn genetic diseases [RCV002352400] |
Chr1:156868532 [GRCh38]
Chr1:156838324 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1502-5dup |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV001481376] |
Chr1:156876070..156876071 [GRCh38]
Chr1:156845862..156845863 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.611C>T (p.Ser204Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000861525]|Inborn genetic diseases [RCV002352504] |
Chr1:156868541 [GRCh38]
Chr1:156838333 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1029C>T (p.His343=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000876570]|NTRK1-related disorder [RCV003895377] |
Chr1:156873811 [GRCh38]
Chr1:156843603 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2047-8C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000877061] |
Chr1:156879991 [GRCh38]
Chr1:156849783 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.2205+9C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000902776] |
Chr1:156880166 [GRCh38]
Chr1:156849958 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.954T>C (p.Asn318=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000872536] |
Chr1:156873736 [GRCh38]
Chr1:156843528 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.357C>T (p.Arg119=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000876787] |
Chr1:156864797 [GRCh38]
Chr1:156834589 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.360-9C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000920652] |
Chr1:156866901 [GRCh38]
Chr1:156836693 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.504C>A (p.Gly168=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001452995] |
Chr1:156868179 [GRCh38]
Chr1:156837971 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.900C>T (p.Cys300=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000937081] |
Chr1:156873682 [GRCh38]
Chr1:156843474 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1803C>G (p.Leu601=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000874023]|not provided [RCV001580553] |
Chr1:156876570 [GRCh38]
Chr1:156846362 [GRCh37]
Chr1:1q23.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014215.3(INSRR):c.775C>T (p.Leu259=) |
single nucleotide variant |
not provided [RCV000896316] |
Chr1:156852054 [GRCh38]
Chr1:156821846 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1190C>T (p.Pro397Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000877121] |
Chr1:156874395 [GRCh38]
Chr1:156844187 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.846C>G (p.Val282=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001493133] |
Chr1:156871751 [GRCh38]
Chr1:156841543 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1805+8C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000938935] |
Chr1:156876580 [GRCh38]
Chr1:156846372 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.824A>C (p.Glu275Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000875061] |
Chr1:156871729 [GRCh38]
Chr1:156841521 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.639G>T (p.Leu213=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001451265] |
Chr1:156868569 [GRCh38]
Chr1:156838361 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.574+9C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001443051] |
Chr1:156868258 [GRCh38]
Chr1:156838050 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1189C>A (p.Pro397Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001439919]|Inborn genetic diseases [RCV002542088] |
Chr1:156874394 [GRCh38]
Chr1:156844186 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1080G>T (p.Thr360=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000978066] |
Chr1:156873862 [GRCh38]
Chr1:156843654 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.930A>T (p.Ala310=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000941471] |
Chr1:156873712 [GRCh38]
Chr1:156843504 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.504C>T (p.Gly168=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000966535] |
Chr1:156868179 [GRCh38]
Chr1:156837971 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1098C>T (p.Pro366=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000927507] |
Chr1:156873880 [GRCh38]
Chr1:156843672 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1638G>C (p.Leu546=) |
single nucleotide variant |
not provided [RCV000917937] |
Chr1:156876405 [GRCh38]
Chr1:156846197 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1473C>T (p.Ile491=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000877948]|NTRK1-related disorder [RCV003955766] |
Chr1:156875638 [GRCh38]
Chr1:156845430 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1344T>C (p.Phe448=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000939428] |
Chr1:156874998 [GRCh38]
Chr1:156844790 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1031_1043del (p.Gly344fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000804439] |
Chr1:156873813..156873825 [GRCh38]
Chr1:156843605..156843617 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2164A>G (p.Thr722Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000822686] |
Chr1:156880116 [GRCh38]
Chr1:156849908 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.396G>A (p.Trp132Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000813929] |
Chr1:156866946 [GRCh38]
Chr1:156836738 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1354C>G (p.Arg452Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000804631]|Inborn genetic diseases [RCV002381765]|NTRK1-related disorder [RCV004753046] |
Chr1:156875008 [GRCh38]
Chr1:156844800 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1093A>C (p.Asn365His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000796945] |
Chr1:156873875 [GRCh38]
Chr1:156843667 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.717+86G>C |
single nucleotide variant |
not provided [RCV000837808] |
Chr1:156868733 [GRCh38]
Chr1:156838525 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.1660C>T (p.Arg554Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000986437]|not provided [RCV003411926] |
Chr1:156846669 [GRCh38]
Chr1:156816461 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1004C>T (p.Pro335Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000819540]|Inborn genetic diseases [RCV002535509] |
Chr1:156873786 [GRCh38]
Chr1:156843578 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.10-1075A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000986434] |
Chr1:156841006 [GRCh38]
Chr1:156810798 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2201C>T (p.Thr734Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000803716] |
Chr1:156880153 [GRCh38]
Chr1:156849945 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2205+9C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001488926] |
Chr1:156880166 [GRCh38]
Chr1:156849958 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2335G>A (p.Ala779Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000818553] |
Chr1:156881586 [GRCh38]
Chr1:156851378 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2205+155G>C |
single nucleotide variant |
not provided [RCV000826537] |
Chr1:156880312 [GRCh38]
Chr1:156850104 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.157G>A (p.Asp53Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000818627] |
Chr1:156861091 [GRCh38]
Chr1:156830883 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.321G>A (p.Ala107=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000938016] |
Chr1:156864761 [GRCh38]
Chr1:156834553 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.718-156A>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001532840]|not provided [RCV000826513] |
Chr1:156871467 [GRCh38]
Chr1:156841259 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.213-233A>G |
single nucleotide variant |
not provided [RCV000837149] |
Chr1:156864121 [GRCh38]
Chr1:156833913 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.830C>G (p.Ser277Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000793367] |
Chr1:156871735 [GRCh38]
Chr1:156841527 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1960C>T (p.Arg654Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789609]|Hereditary insensitivity to pain with anhidrosis [RCV001381359] |
Chr1:156879276 [GRCh38]
Chr1:156849068 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.429-1G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789673]|Hereditary insensitivity to pain with anhidrosis [RCV001329488] |
Chr1:156868103 [GRCh38]
Chr1:156837895 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.2303C>T (p.Pro768Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789685]|Hereditary insensitivity to pain with anhidrosis [RCV000820283] |
Chr1:156881554 [GRCh38]
Chr1:156851346 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.1162G>A (p.Glu388Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789686] |
Chr1:156873944 [GRCh38]
Chr1:156843736 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.722dup (p.Gly242fs) |
duplication |
Charcot-Marie-Tooth disease [RCV000790260] |
Chr1:156871626..156871627 [GRCh38]
Chr1:156841418..156841419 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.924_930del (p.Gln308fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790289]|Hereditary insensitivity to pain with anhidrosis [RCV001382531] |
Chr1:156873702..156873708 [GRCh38]
Chr1:156843494..156843500 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.717+1G>C |
single nucleotide variant |
Hereditary sensory and autonomic neuropathy [RCV000790290] |
Chr1:156868648 [GRCh38]
Chr1:156838440 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2162T>C (p.Phe721Ser) |
single nucleotide variant |
Hereditary sensory and autonomic neuropathy [RCV000790291] |
Chr1:156880114 [GRCh38]
Chr1:156849906 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.538C>T (p.Gln180Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000816391]|Inborn genetic diseases [RCV002345871] |
Chr1:156868213 [GRCh38]
Chr1:156838005 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.88T>C (p.Ser30Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000822952]|Inborn genetic diseases [RCV003279115] |
Chr1:156861022 [GRCh38]
Chr1:156830814 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.574+1G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789502]|Hereditary insensitivity to pain with anhidrosis [RCV001218483] |
Chr1:156868250 [GRCh38]
Chr1:156838042 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely benign |
| NM_002529.4(NTRK1):c.1754del (p.Leu585fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789607]|Hereditary insensitivity to pain with anhidrosis [RCV001580545] |
Chr1:156876521 [GRCh38]
Chr1:156846313 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.2328dup (p.Val777fs) |
duplication |
Charcot-Marie-Tooth disease [RCV000789610] |
Chr1:156881578..156881579 [GRCh38]
Chr1:156851370..156851371 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1733T>G (p.Val578Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789625] |
Chr1:156876500 [GRCh38]
Chr1:156846292 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1895_1896insA (p.Ser632fs) |
insertion |
Charcot-Marie-Tooth disease [RCV000789626] |
Chr1:156879211..156879212 [GRCh38]
Chr1:156849003..156849004 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.496G>T (p.Gly166Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789509] |
Chr1:156868171 [GRCh38]
Chr1:156837963 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1867G>T (p.Gly623Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789674]|Hereditary insensitivity to pain with anhidrosis [RCV001856239] |
Chr1:156879183 [GRCh38]
Chr1:156848975 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1633-1G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790136]|Hereditary insensitivity to pain with anhidrosis [RCV002267625] |
Chr1:156876399 [GRCh38]
Chr1:156846191 [GRCh37]
Chr1:1q23.1 |
uncertain significance|not provided |
| NM_002529.4(NTRK1):c.574+100T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001532839]|not provided [RCV000826510] |
Chr1:156868349 [GRCh38]
Chr1:156838141 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1806-106T>C |
single nucleotide variant |
not provided [RCV000826536] |
Chr1:156879016 [GRCh38]
Chr1:156848808 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_001007792.1(NTRK1):c.9+149G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001537656]|not provided [RCV000826540] |
Chr1:156815987 [GRCh38]
Chr1:156785779 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.590A>C (p.Lys197Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000808495] |
Chr1:156868520 [GRCh38]
Chr1:156838312 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1256C>T (p.Ser419Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000818291] |
Chr1:156874910 [GRCh38]
Chr1:156844702 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.905C>T (p.Pro302Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000805196] |
Chr1:156873687 [GRCh38]
Chr1:156843479 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1925C>T (p.Ala642Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000815142]|not provided [RCV002067399] |
Chr1:156879241 [GRCh38]
Chr1:156849033 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1237G>C (p.Glu413Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000795187]|Inborn genetic diseases [RCV002360920] |
Chr1:156874612 [GRCh38]
Chr1:156844404 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.605A>G (p.Asn202Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000795240] |
Chr1:156868535 [GRCh38]
Chr1:156838327 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.623G>A (p.Gly208Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000812174]|Inborn genetic diseases [RCV002537368] |
Chr1:156868553 [GRCh38]
Chr1:156838345 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1748G>A (p.Arg583His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001045883]|not provided [RCV001772247] |
Chr1:156876515 [GRCh38]
Chr1:156846307 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001012331.1(NTRK1):c.-45371T>C |
single nucleotide variant |
not provided [RCV000826508] |
Chr1:156815564 [GRCh38]
Chr1:156785356 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1806-120C>T |
single nucleotide variant |
not provided [RCV000826535] |
Chr1:156879002 [GRCh38]
Chr1:156848794 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.2205+163T>G |
single nucleotide variant |
not provided [RCV000826538] |
Chr1:156880320 [GRCh38]
Chr1:156850112 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.148T>C (p.Cys50Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001044138] |
Chr1:156861082 [GRCh38]
Chr1:156830874 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.354_359+3del |
deletion |
Charcot-Marie-Tooth disease [RCV000789508]|Hereditary insensitivity to pain with anhidrosis [RCV000809119] |
Chr1:156864793..156864801 [GRCh38]
Chr1:156834585..156834593 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.1564G>A (p.Gly522Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789606] |
Chr1:156876142 [GRCh38]
Chr1:156845934 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2068C>T (p.Pro690Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000818247] |
Chr1:156880020 [GRCh38]
Chr1:156849812 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1025G>A (p.Arg342Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000821975] |
Chr1:156873807 [GRCh38]
Chr1:156843599 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.878C>T (p.Ala293Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000802414]|Inborn genetic diseases [RCV002370122]|not provided [RCV001662832] |
Chr1:156873660 [GRCh38]
Chr1:156843452 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2070C>G (p.Pro690=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000977942] |
Chr1:156880022 [GRCh38]
Chr1:156849814 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.259C>T (p.Arg87Cys) |
single nucleotide variant |
not provided [RCV000917574] |
Chr1:156854130 [GRCh38]
Chr1:156823922 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.302G>A (p.Ser101Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000813055] |
Chr1:156864742 [GRCh38]
Chr1:156834534 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1987G>A (p.Val663Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000799315] |
Chr1:156879303 [GRCh38]
Chr1:156849095 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2324A>G (p.Lys775Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000807666] |
Chr1:156881575 [GRCh38]
Chr1:156851367 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1551_1552insACATCGGG (p.Glu518fs) |
insertion |
Charcot-Marie-Tooth disease [RCV000789624] |
Chr1:156876126..156876127 [GRCh38]
Chr1:156845918..156845919 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1946G>T (p.Arg649Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789672] |
Chr1:156879262 [GRCh38]
Chr1:156849054 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.344C>G (p.Pro115Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000794624] |
Chr1:156864784 [GRCh38]
Chr1:156834576 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.9+141A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001537655]|not provided [RCV000826539] |
Chr1:156815979 [GRCh38]
Chr1:156785771 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1747C>T (p.Arg583Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000797003]|Inborn genetic diseases [RCV002397594]|not provided [RCV000992455]|not specified [RCV001002592] |
Chr1:156876514 [GRCh38]
Chr1:156846306 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1926G>A (p.Ala642=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000820108] |
Chr1:156879242 [GRCh38]
Chr1:156849034 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NC_000001.11:g.156868505del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000803508] |
Chr1:156868504 [GRCh38]
Chr1:156838296 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2206-208T>G |
single nucleotide variant |
not provided [RCV000829711] |
Chr1:156881249 [GRCh38]
Chr1:156851041 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.316G>A (p.Val106Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000811617]|Inborn genetic diseases [RCV003353045] |
Chr1:156864756 [GRCh38]
Chr1:156834548 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.988A>G (p.Thr330Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000811829] |
Chr1:156873770 [GRCh38]
Chr1:156843562 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.117C>T (p.Ala39=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000875427]|not provided [RCV001726358]|not specified [RCV001700483] |
Chr1:156861051 [GRCh38]
Chr1:156830843 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.152C>T (p.Thr51Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000795581] |
Chr1:156861086 [GRCh38]
Chr1:156830878 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1125G>A (p.Met375Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000814527] |
Chr1:156873907 [GRCh38]
Chr1:156843699 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.808G>A (p.Asp270Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000823933]|not provided [RCV002307632] |
Chr1:156871713 [GRCh38]
Chr1:156841505 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2223G>A (p.Thr741=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001501013] |
Chr1:156881474 [GRCh38]
Chr1:156851266 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+35GT[12] |
microsatellite |
Hereditary insensitivity to pain with anhidrosis [RCV000986442] |
Chr1:156875701..156875712 [GRCh38]
Chr1:156845493..156845504 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.131G>A (p.Gly44Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001046695] |
Chr1:156861065 [GRCh38]
Chr1:156830857 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.575-15G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001096154] |
Chr1:156868490 [GRCh38]
Chr1:156838282 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1717G>A (p.Val573Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001096256]|not provided [RCV001772315] |
Chr1:156876484 [GRCh38]
Chr1:156846276 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.850+11G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001099692] |
Chr1:156871766 [GRCh38]
Chr1:156841558 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.628G>A (p.Asp210Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001097898]|not provided [RCV004597959] |
Chr1:156868558 [GRCh38]
Chr1:156838350 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1917G>A (p.Val639=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001098002] |
Chr1:156879233 [GRCh38]
Chr1:156849025 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.2205+13C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001099782] |
