GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 |
copy number gain |
See cases [RCV000051193] |
Chr5:130860928..155321811 [GRCh38] Chr5:130196621..154701371 [GRCh37] Chr5:130224520..154681564 [NCBI36] Chr5:5q23.3-33.2 |
pathogenic |
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 |
copy number loss |
See cases [RCV000052142] |
Chr5:138871137..145812309 [GRCh38] Chr5:138206826..145191872 [GRCh37] Chr5:138234725..145172065 [NCBI36] Chr5:5q31.2-32 |
pathogenic |
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 |
copy number loss |
See cases [RCV000053524] |
Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2 |
pathogenic |
NM_018898.3(PCDHAC1):c.1672C>T (p.Pro558Ser) |
single nucleotide variant |
Malignant melanoma [RCV000061140] |
Chr5:140928564 [GRCh38] Chr5:140308149 [GRCh37] Chr5:140288333 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018901.3(PCDHA10):c.803C>T (p.Ser268Leu) |
single nucleotide variant |
Malignant melanoma [RCV000061137] |
Chr5:140856851 [GRCh38] Chr5:140236436 [GRCh37] Chr5:140216620 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018904.2(PCDHA13):c.1372C>T (p.Pro458Ser) |
single nucleotide variant |
Malignant melanoma [RCV000061138] |
Chr5:140883640 [GRCh38] Chr5:140263225 [GRCh37] Chr5:140243409 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018898.3(PCDHAC1):c.1559G>C (p.Gly520Ala) |
single nucleotide variant |
Malignant melanoma [RCV000061139] |
Chr5:140928451 [GRCh38] Chr5:140308036 [GRCh37] Chr5:140288220 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018901.3(PCDHA10):c.845C>T (p.Ser282Phe) |
single nucleotide variant |
Malignant melanoma [RCV000066683] |
Chr5:140856893 [GRCh38] Chr5:140236478 [GRCh37] Chr5:140216662 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018901.3(PCDHA10):c.2070C>T (p.Ala690=) |
single nucleotide variant |
Malignant melanoma [RCV000066684] |
Chr5:140858118 [GRCh38] Chr5:140237703 [GRCh37] Chr5:140217887 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018903.3(PCDHA12):c.955C>T (p.Gln319Ter) |
single nucleotide variant |
Malignant melanoma [RCV000066685] |
Chr5:140876427 [GRCh38] Chr5:140256012 [GRCh37] Chr5:140236196 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018903.3(PCDHA12):c.2083G>A (p.Asp695Asn) |
single nucleotide variant |
Malignant melanoma [RCV000066686] |
Chr5:140877555 [GRCh38] Chr5:140257140 [GRCh37] Chr5:140237324 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018904.2(PCDHA13):c.693G>A (p.Thr231=) |
single nucleotide variant |
Malignant melanoma [RCV000066687] |
Chr5:140882961 [GRCh38] Chr5:140262546 [GRCh37] Chr5:140242730 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018904.2(PCDHA13):c.815G>A (p.Gly272Asp) |
single nucleotide variant |
Malignant melanoma [RCV000066688] |
Chr5:140883083 [GRCh38] Chr5:140262668 [GRCh37] Chr5:140242852 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018899.5(PCDHAC2):c.703C>T (p.Pro235Ser) |
single nucleotide variant |
Malignant melanoma [RCV000066693] |
Chr5:140967469 [GRCh38] Chr5:140347054 [GRCh37] Chr5:140327238 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018899.5(PCDHAC2):c.1957G>A (p.Gly653Ser) |
single nucleotide variant |
Malignant melanoma [RCV000061141] |
Chr5:140968723 [GRCh38] Chr5:140348308 [GRCh37] Chr5:140328492 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018898.3(PCDHAC1):c.2742G>A (p.Gln914=) |
single nucleotide variant |
Malignant melanoma [RCV000061142] |
Chr5:141009787 [GRCh38] Chr5:140389372 [GRCh37] Chr5:140369556 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018904.2(PCDHA13):c.977G>A (p.Gly326Glu) |
single nucleotide variant |
Malignant melanoma [RCV000066689] |
Chr5:140883245 [GRCh38] Chr5:140262830 [GRCh37] Chr5:140243014 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018898.3(PCDHAC1):c.1688G>A (p.Gly563Asp) |
single nucleotide variant |
Malignant melanoma [RCV000066691] |
Chr5:140928580 [GRCh38] Chr5:140308165 [GRCh37] Chr5:140288349 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018899.5(PCDHAC2):c.589C>T (p.Leu197Phe) |
single nucleotide variant |
Malignant melanoma [RCV000066692] |
Chr5:140967355 [GRCh38] Chr5:140346940 [GRCh37] Chr5:140327124 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018899.5(PCDHAC2):c.2248G>A (p.Glu750Lys) |
single nucleotide variant |
Malignant melanoma [RCV000066694] |
Chr5:140969014 [GRCh38] Chr5:140348599 [GRCh37] Chr5:140328783 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018898.3(PCDHAC1):c.1359C>T (p.Phe453=) |
single nucleotide variant |
Malignant melanoma [RCV000066690] |
Chr5:140928251 [GRCh38] Chr5:140307836 [GRCh37] Chr5:140288020 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018898.5(PCDHAC1):c.2396G>A (p.Arg799Gln) |
single nucleotide variant |
not provided [RCV000122558] |
Chr5:140929288 [GRCh38] Chr5:140308873 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1166C>T (p.Thr389Met) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149260] |
Chr5:140857214 [GRCh38] Chr5:140236799 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 |
copy number gain |
See cases [RCV000138808] |
Chr5:129847794..153353546 [GRCh38] Chr5:129183487..152733106 [GRCh37] Chr5:129211386..152713299 [NCBI36] Chr5:5q23.3-33.2 |
pathogenic |
NM_018903.4(PCDHA12):c.703G>A (p.Val235Met) |
single nucleotide variant |
not provided [RCV001572857] |
Chr5:140876175 [GRCh38] Chr5:140255760 [GRCh37] Chr5:5q31.3 |
likely benign |
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 |
copy number gain |
not provided [RCV000487658] |
Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3 |
likely benign |
NC_000005.9:g.(?_86400000)_(154000000_?)del |
deletion |
Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] |
Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2 |
pathogenic |
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 |
copy number gain |
See cases [RCV000449349] |
Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3 |
pathogenic |
NM_018901.4(PCDHA10):c.897A>T (p.Gly299=) |
single nucleotide variant |
not specified [RCV000429816] |
Chr5:140856945 [GRCh38] Chr5:140236530 [GRCh37] Chr5:5q31.3 |
likely benign |
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 |
copy number gain |
See cases [RCV000448245] |
Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3 |
pathogenic |
NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His) |
single nucleotide variant |
Hirschsprung disease, susceptibility to, 1 [RCV000508600]|not provided [RCV004692884] |
Chr5:140978974 [GRCh38] Chr5:140358559 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_018904.3(PCDHA13):c.1337C>G (p.Ala446Gly) |
single nucleotide variant |
not specified [RCV004298132] |
Chr5:140883605 [GRCh38] Chr5:140263190 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1553A>T (p.Tyr518Phe) |
single nucleotide variant |
not specified [RCV004312482] |
Chr5:140883821 [GRCh38] Chr5:140263406 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1574A>G (p.His525Arg) |
single nucleotide variant |
not specified [RCV004333017] |
Chr5:140877046 [GRCh38] Chr5:140256631 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1255T>G (p.Ser419Ala) |
single nucleotide variant |
not specified [RCV004333811] |
Chr5:140883523 [GRCh38] Chr5:140263108 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.344A>C (p.Gln115Pro) |
single nucleotide variant |
not specified [RCV004318687] |
Chr5:140875816 [GRCh38] Chr5:140255401 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1942G>C (p.Val648Leu) |
single nucleotide variant |
not specified [RCV004320426] |
Chr5:140857990 [GRCh38] Chr5:140237575 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.968A>G (p.Asp323Gly) |
single nucleotide variant |
not specified [RCV004331738] |
Chr5:140870071 [GRCh38] Chr5:140249656 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1500C>G (p.Asp500Glu) |
single nucleotide variant |
not specified [RCV004312466] |
Chr5:140870603 [GRCh38] Chr5:140250188 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.1466T>G (p.Leu489Arg) |
single nucleotide variant |
not specified [RCV004312470] |
Chr5:140876938 [GRCh38] Chr5:140256523 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1505A>G (p.His502Arg) |
single nucleotide variant |
not specified [RCV004312472] |
Chr5:140876977 [GRCh38] Chr5:140256562 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.196G>A (p.Val66Met) |
single nucleotide variant |
not specified [RCV004312473] |
Chr5:140875668 [GRCh38] Chr5:140255253 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1466T>G (p.Leu489Arg) |
single nucleotide variant |
not specified [RCV004312478] |
Chr5:140883734 [GRCh38] Chr5:140263319 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.380A>G (p.Asp127Gly) |
single nucleotide variant |
not specified [RCV004302379] |
Chr5:140856428 [GRCh38] Chr5:140236013 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.128C>A (p.Thr43Asn) |
single nucleotide variant |
not specified [RCV004294125] |
Chr5:140882396 [GRCh38] Chr5:140261981 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.982C>T (p.Pro328Ser) |
single nucleotide variant |
not specified [RCV004333407] |
Chr5:140870085 [GRCh38] Chr5:140249670 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1459G>A (p.Val487Ile) |
single nucleotide variant |
not specified [RCV004299002] |
Chr5:140928351 [GRCh38] Chr5:140307936 [GRCh37] Chr5:5q31.3 |
likely benign |
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 |
copy number loss |
not provided [RCV000682600] |
Chr5:139147238..141540491 [GRCh37] Chr5:5q31.2-31.3 |
pathogenic |
GRCh37/hg19 5q31.3(chr5:140215845-140244335)x1 |
copy number loss |
not provided [RCV000745217] |
Chr5:140215845..140244335 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140222641-140244335)x1 |
copy number loss |
not provided [RCV000745218] |
Chr5:140222641..140244335 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140223666-140244335)x0 |
copy number loss |
not provided [RCV000745219] |
Chr5:140223666..140244335 [GRCh37] Chr5:5q31.3 |
benign |
NM_018906.3(PCDHA3):c.2670C>A (p.Ile890=) |
single nucleotide variant |
not provided [RCV000881803] |
Chr5:141009754 [GRCh38] Chr5:140389339 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_031857.2(PCDHA9):c.2406C>G (p.Pro802=) |
single nucleotide variant |
not provided [RCV000922554] |
Chr5:140978960 [GRCh38] Chr5:140358545 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.2492C>G (p.Pro831Arg) |
single nucleotide variant |
PCDHA9-related disorder [RCV003913300]|not provided [RCV000950135] |
Chr5:140982540 [GRCh38] Chr5:140362125 [GRCh37] Chr5:5q31.3 |
benign|likely benign |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32 |
uncertain significance |
NM_018904.3(PCDHA13):c.804T>A (p.Asp268Glu) |
single nucleotide variant |
not specified [RCV004319204] |
Chr5:140883072 [GRCh38] Chr5:140262657 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1495G>T (p.Val499Leu) |
single nucleotide variant |
not specified [RCV004322313] |
Chr5:140876967 [GRCh38] Chr5:140256552 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1973C>T (p.Ala658Val) |
single nucleotide variant |
not specified [RCV004298093] |
Chr5:140877445 [GRCh38] Chr5:140257030 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1677C>G (p.Asn559Lys) |
single nucleotide variant |
not specified [RCV004298928] |
Chr5:140877149 [GRCh38] Chr5:140256734 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2613C>T (p.Tyr871=) |
single nucleotide variant |
not provided [RCV000879250] |
Chr5:141009697 [GRCh38] Chr5:140389282 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.210A>C (p.Arg70Ser) |
single nucleotide variant |
not specified [RCV004312475] |
Chr5:140875682 [GRCh38] Chr5:140255267 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.212A>G (p.His71Arg) |
single nucleotide variant |
not specified [RCV004312477] |
Chr5:140875684 [GRCh38] Chr5:140255269 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018902.5(PCDHA11):c.1550A>T (p.Tyr517Phe) |
single nucleotide variant |
not specified [RCV004312469] |
Chr5:140870653 [GRCh38] Chr5:140250238 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018900.4(PCDHA1):c.2394+67303_2394+69956del |
deletion |
Thrombocytosis [RCV001252978] |
Chr5:140855985..140858638 [GRCh38] Chr5:140235570..140238223 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NC_000005.9:g.(?_136633338)_(140998481_?)dup |
duplication |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] |
Chr5:136633338..140998481 [GRCh37] Chr5:5q31.2-31.3 |
uncertain significance |
NM_018907.4(PCDHA4):c.2499T>A (p.Asp833Glu) |
single nucleotide variant |
not provided [RCV001454211] |
Chr5:140982529 [GRCh38] Chr5:140362114 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018901.4(PCDHA10):c.2388+34T>C |
single nucleotide variant |
not provided [RCV001710086] |
Chr5:140858470 [GRCh38] Chr5:140238055 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1 |
copy number loss |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001801202] |
Chr5:139493717..140517454 [GRCh37] Chr5:5q31.2-31.3 |
pathogenic |
NM_018901.4(PCDHA10):c.272G>T (p.Arg91Leu) |
single nucleotide variant |
not specified [RCV004267239] |
Chr5:140856320 [GRCh38] Chr5:140235905 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) |
copy number gain |
not specified [RCV002053526] |
Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3 |
pathogenic |
NM_018904.3(PCDHA13):c.1444G>C (p.Ala482Pro) |
single nucleotide variant |
not specified [RCV004306432] |
Chr5:140883712 [GRCh38] Chr5:140263297 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1463T>G (p.Leu488Arg) |
single nucleotide variant |
not specified [RCV004312464] |
Chr5:140870566 [GRCh38] Chr5:140250151 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1468T>G (p.Ser490Ala) |
single nucleotide variant |
not specified [RCV004312465] |
Chr5:140870571 [GRCh38] Chr5:140250156 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1543A>C (p.Lys515Gln) |
single nucleotide variant |
not specified [RCV004312467] |
Chr5:140870646 [GRCh38] Chr5:140250231 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3 |
copy number gain |
not provided [RCV002474614] |
Chr5:140082762..140773954 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2280G>C (p.Glu760Asp) |
single nucleotide variant |
not specified [RCV004141716] |
Chr5:140871383 [GRCh38] Chr5:140250968 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1442C>T (p.Ala481Val) |
single nucleotide variant |
not specified [RCV004088677] |
Chr5:140870545 [GRCh38] Chr5:140250130 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.701C>T (p.Ala234Val) |
single nucleotide variant |
not specified [RCV004220665] |
Chr5:140856749 [GRCh38] Chr5:140236334 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.2224A>G (p.Ile742Val) |
single nucleotide variant |
not specified [RCV004171315] |
Chr5:140929116 [GRCh38] Chr5:140308701 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018898.5(PCDHAC1):c.143C>A (p.Ala48Asp) |
single nucleotide variant |
not specified [RCV004136321] |
Chr5:140927035 [GRCh38] Chr5:140306620 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.107A>C (p.Tyr36Ser) |
single nucleotide variant |
not specified [RCV004100932] |
Chr5:140875579 [GRCh38] Chr5:140255164 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2038G>T (p.Val680Leu) |
single nucleotide variant |
not specified [RCV004204006] |
Chr5:140968804 [GRCh38] Chr5:140348389 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.996C>A (p.His332Gln) |
single nucleotide variant |
not specified [RCV004140063] |
Chr5:140870099 [GRCh38] Chr5:140249684 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1523C>T (p.Ser508Leu) |
single nucleotide variant |
not specified [RCV004118095] |
Chr5:140870626 [GRCh38] Chr5:140250211 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.106G>T (p.Val36Leu) |
single nucleotide variant |
not specified [RCV004148880] |
Chr5:140926998 [GRCh38] Chr5:140306583 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1688C>A (p.Pro563Gln) |
single nucleotide variant |
not specified [RCV004104649] |
Chr5:140877160 [GRCh38] Chr5:140256745 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.361G>A (p.Val121Met) |
single nucleotide variant |
not specified [RCV004128515] |
Chr5:140875833 [GRCh38] Chr5:140255418 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2111T>C (p.Ile704Thr) |
single nucleotide variant |
not specified [RCV004098181] |
Chr5:140968877 [GRCh38] Chr5:140348462 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1469T>C (p.Val490Ala) |
single nucleotide variant |
not specified [RCV004188344] |
Chr5:140876941 [GRCh38] Chr5:140256526 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.509A>G (p.Tyr170Cys) |
single nucleotide variant |
not specified [RCV004100327] |
Chr5:140875981 [GRCh38] Chr5:140255566 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1864C>T (p.Arg622Cys) |
single nucleotide variant |
not specified [RCV004100894] |
Chr5:140857912 [GRCh38] Chr5:140237497 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.545T>C (p.Ile182Thr) |
single nucleotide variant |
not specified [RCV004129197] |
Chr5:140876017 [GRCh38] Chr5:140255602 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2013C>A (p.Ser671Arg) |
single nucleotide variant |
not specified [RCV004204464] |
Chr5:140871116 [GRCh38] Chr5:140250701 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.320A>G (p.Glu107Gly) |
single nucleotide variant |
not specified [RCV004092544] |
Chr5:140882588 [GRCh38] Chr5:140262173 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1249G>T (p.Val417Leu) |
single nucleotide variant |
not specified [RCV004121832] |
Chr5:140870352 [GRCh38] Chr5:140249937 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.881A>G (p.Gln294Arg) |
single nucleotide variant |
not specified [RCV004127145] |
Chr5:140927773 [GRCh38] Chr5:140307358 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.1636G>A (p.Gly546Ser) |
single nucleotide variant |
not specified [RCV004193522] |
Chr5:140877108 [GRCh38] Chr5:140256693 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.38G>T (p.Arg13Leu) |
single nucleotide variant |
not specified [RCV004090210] |
Chr5:140875510 [GRCh38] Chr5:140255095 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.345G>C (p.Gln115His) |
single nucleotide variant |
not specified [RCV004162122] |
Chr5:140875817 [GRCh38] Chr5:140255402 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.682A>G (p.Thr228Ala) |
single nucleotide variant |
not specified [RCV004096588] |
Chr5:140967448 [GRCh38] Chr5:140347033 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1261G>A (p.Glu421Lys) |
single nucleotide variant |
not specified [RCV004192997] |
Chr5:140870364 [GRCh38] Chr5:140249949 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1387A>G (p.Asn463Asp) |
single nucleotide variant |
not specified [RCV004091016] |
Chr5:140968153 [GRCh38] Chr5:140347738 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1904T>C (p.Val635Ala) |
single nucleotide variant |
not specified [RCV004125849] |
Chr5:140968670 [GRCh38] Chr5:140348255 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1645G>A (p.Val549Met) |
single nucleotide variant |
not specified [RCV004106224] |
Chr5:140883913 [GRCh38] Chr5:140263498 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.81C>G (p.Ser27Arg) |
single nucleotide variant |
not specified [RCV004127299] |
Chr5:140856129 [GRCh38] Chr5:140235714 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1522G>A (p.Val508Met) |
single nucleotide variant |
not specified [RCV004146133] |
Chr5:140883790 [GRCh38] Chr5:140263375 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.179T>C (p.Val60Ala) |
single nucleotide variant |
not specified [RCV004137792] |
Chr5:140875651 [GRCh38] Chr5:140255236 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.275A>G (p.Glu92Gly) |
single nucleotide variant |
not specified [RCV004131172] |
Chr5:140856323 [GRCh38] Chr5:140235908 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.91C>T (p.His31Tyr) |
single nucleotide variant |
not specified [RCV004106223] |
Chr5:140856139 [GRCh38] Chr5:140235724 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.436G>A (p.Ala146Thr) |
single nucleotide variant |
not specified [RCV004100896] |
Chr5:140875908 [GRCh38] Chr5:140255493 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.2111T>C (p.Ile704Thr) |
single nucleotide variant |
not specified [RCV004140127] |
Chr5:140877583 [GRCh38] Chr5:140257168 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1682A>T (p.Asn561Ile) |
single nucleotide variant |
not specified [RCV004209256] |
Chr5:140883950 [GRCh38] Chr5:140263535 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.827C>A (p.Thr276Lys) |
single nucleotide variant |
not specified [RCV004095333] |
Chr5:140927719 [GRCh38] Chr5:140307304 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.680G>C (p.Arg227Pro) |
single nucleotide variant |
not specified [RCV004184307] |
Chr5:140869783 [GRCh38] Chr5:140249368 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1204C>A (p.Pro402Thr) |
single nucleotide variant |
not specified [RCV004141786] |
Chr5:140928096 [GRCh38] Chr5:140307681 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1310C>G (p.Thr437Arg) |
single nucleotide variant |
not specified [RCV004079776] |
Chr5:140870413 [GRCh38] Chr5:140249998 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.4C>G (p.Leu2Val) |
single nucleotide variant |
not specified [RCV004150476] |
Chr5:140882272 [GRCh38] Chr5:140261857 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.2155A>G (p.Thr719Ala) |
single nucleotide variant |
not specified [RCV004101864] |
Chr5:140884423 [GRCh38] Chr5:140264008 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.106T>C (p.Tyr36His) |
single nucleotide variant |
not specified [RCV004130140] |
Chr5:140875578 [GRCh38] Chr5:140255163 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.167C>A (p.Ala56Glu) |
single nucleotide variant |
not specified [RCV004177600] |
Chr5:140856215 [GRCh38] Chr5:140235800 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1127A>C (p.His376Pro) |
single nucleotide variant |
not specified [RCV004234108] |
Chr5:140857175 [GRCh38] Chr5:140236760 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.452A>G (p.Asp151Gly) |
single nucleotide variant |
not specified [RCV004189313] |
Chr5:140927344 [GRCh38] Chr5:140306929 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1897A>C (p.Thr633Pro) |
single nucleotide variant |
not specified [RCV004245241] |
Chr5:140877369 [GRCh38] Chr5:140256954 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.913G>C (p.Asp305His) |
single nucleotide variant |
not specified [RCV004225802] |
Chr5:140856961 [GRCh38] Chr5:140236546 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.394G>A (p.Val132Met) |
single nucleotide variant |
not specified [RCV004145749] |
Chr5:140869497 [GRCh38] Chr5:140249082 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.369G>C (p.Lys123Asn) |
single nucleotide variant |
not specified [RCV004172762] |
Chr5:140856417 [GRCh38] Chr5:140236002 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.14G>T (p.Trp5Leu) |
single nucleotide variant |
not specified [RCV004232800] |
Chr5:140882282 [GRCh38] Chr5:140261867 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1490G>T (p.Arg497Leu) |
single nucleotide variant |
not specified [RCV004194704] |
Chr5:140876962 [GRCh38] Chr5:140256547 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.540C>G (p.Ser180Arg) |
single nucleotide variant |
not specified [RCV004226120] |
Chr5:140927432 [GRCh38] Chr5:140307017 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.489G>T (p.Glu163Asp) |
single nucleotide variant |
not specified [RCV004185679] |
Chr5:140856537 [GRCh38] Chr5:140236122 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.418G>A (p.Val140Ile) |
single nucleotide variant |
not specified [RCV004112400] |
Chr5:140875890 [GRCh38] Chr5:140255475 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.2011G>C (p.Gly671Arg) |
single nucleotide variant |
not specified [RCV004102018] |
Chr5:140858059 [GRCh38] Chr5:140237644 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.158G>A (p.Gly53Glu) |
single nucleotide variant |
not specified [RCV004233575] |
Chr5:140869261 [GRCh38] Chr5:140248846 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1193G>A (p.Arg398Gln) |
single nucleotide variant |
not specified [RCV004100838] |
Chr5:140967959 [GRCh38] Chr5:140347544 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1741C>T (p.Pro581Ser) |
single nucleotide variant |
not specified [RCV004129296] |
Chr5:140870844 [GRCh38] Chr5:140250429 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018899.6(PCDHAC2):c.811C>T (p.Pro271Ser) |
single nucleotide variant |
not specified [RCV004100346] |
Chr5:140967577 [GRCh38] Chr5:140347162 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.778C>A (p.Pro260Thr) |
single nucleotide variant |
not specified [RCV004132204] |
Chr5:140927670 [GRCh38] Chr5:140307255 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1555G>T (p.Ala519Ser) |
single nucleotide variant |
not specified [RCV004186533] |
Chr5:140877027 [GRCh38] Chr5:140256612 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2212G>T (p.Gly738Cys) |
single nucleotide variant |
not specified [RCV004177607] |
Chr5:140968978 [GRCh38] Chr5:140348563 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.917C>T (p.Thr306Ile) |
single nucleotide variant |
not specified [RCV004162456] |
Chr5:140870020 [GRCh38] Chr5:140249605 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018899.6(PCDHAC2):c.1292G>A (p.Arg431Gln) |
single nucleotide variant |
not specified [RCV004227471] |
Chr5:140968058 [GRCh38] Chr5:140347643 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1517C>T (p.Ala506Val) |
single nucleotide variant |
not specified [RCV004097033] |
Chr5:140928409 [GRCh38] Chr5:140307994 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1795G>A (p.Ala599Thr) |
single nucleotide variant |
not specified [RCV004222282] |
Chr5:140877267 [GRCh38] Chr5:140256852 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.269T>C (p.Ile90Thr) |
single nucleotide variant |
not specified [RCV004159275] |
Chr5:140875741 [GRCh38] Chr5:140255326 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2098A>G (p.Ile700Val) |
single nucleotide variant |
not specified [RCV004204510] |
Chr5:140871201 [GRCh38] Chr5:140250786 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.934A>G (p.Asn312Asp) |
single nucleotide variant |
not specified [RCV004109950] |
Chr5:140870037 [GRCh38] Chr5:140249622 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1195A>C (p.Lys399Gln) |
single nucleotide variant |
not specified [RCV004137992] |
Chr5:140967961 [GRCh38] Chr5:140347546 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1544G>T (p.Gly515Val) |
single nucleotide variant |
not specified [RCV004216743] |
Chr5:140877016 [GRCh38] Chr5:140256601 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.535G>A (p.Gly179Ser) |
single nucleotide variant |
not specified [RCV004111559] |
Chr5:140927427 [GRCh38] Chr5:140307012 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.119A>T (p.His40Leu) |
single nucleotide variant |
not specified [RCV004202620] |
Chr5:140856167 [GRCh38] Chr5:140235752 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1688C>T (p.Pro563Leu) |
single nucleotide variant |
not specified [RCV004223075] |
Chr5:140877160 [GRCh38] Chr5:140256745 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1529A>G (p.His510Arg) |
single nucleotide variant |
not specified [RCV004182809] |
Chr5:140857577 [GRCh38] Chr5:140237162 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.712A>T (p.Asn238Tyr) |
single nucleotide variant |
not specified [RCV004077060] |
Chr5:140882980 [GRCh38] Chr5:140262565 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.757G>A (p.Glu253Lys) |
single nucleotide variant |
not specified [RCV004167432] |
Chr5:140883025 [GRCh38] Chr5:140262610 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1222A>C (p.Ile408Leu) |
single nucleotide variant |
not specified [RCV004230358] |
Chr5:140928114 [GRCh38] Chr5:140307699 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2252G>A (p.Arg751Lys) |
single nucleotide variant |
not specified [RCV004202021] |
Chr5:140969018 [GRCh38] Chr5:140348603 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1213T>C (p.Ser405Pro) |
single nucleotide variant |
not specified [RCV004197644] |
Chr5:140857261 [GRCh38] Chr5:140236846 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.920A>C (p.Glu307Ala) |
single nucleotide variant |
not specified [RCV004207465] |
Chr5:140876392 [GRCh38] Chr5:140255977 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.2043C>G (p.Asn681Lys) |
single nucleotide variant |
not specified [RCV004153192] |
Chr5:140928935 [GRCh38] Chr5:140308520 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1895C>G (p.Thr632Arg) |
single nucleotide variant |
not specified [RCV004225408] |
Chr5:140870998 [GRCh38] Chr5:140250583 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1952T>G (p.Val651Gly) |
single nucleotide variant |
not specified [RCV004106948] |
Chr5:140884220 [GRCh38] Chr5:140263805 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2050G>C (p.Gly684Arg) |
single nucleotide variant |
not specified [RCV004190868] |
Chr5:140871153 [GRCh38] Chr5:140250738 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1447G>T (p.Ala483Ser) |
single nucleotide variant |
not specified [RCV004212676] |
Chr5:140870550 [GRCh38] Chr5:140250135 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1888G>C (p.Glu630Gln) |
single nucleotide variant |
not specified [RCV004111441] |
Chr5:140884156 [GRCh38] Chr5:140263741 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1895G>C (p.Ser632Thr) |
single nucleotide variant |
not specified [RCV004205135] |
Chr5:140877367 [GRCh38] Chr5:140256952 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2269G>A (p.Val757Met) |
single nucleotide variant |
not specified [RCV004129509] |
Chr5:140871372 [GRCh38] Chr5:140250957 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.492C>G (p.Ser164Arg) |
single nucleotide variant |
not specified [RCV004069301] |
Chr5:140927384 [GRCh38] Chr5:140306969 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1129C>A (p.Arg377Ser) |
single nucleotide variant |
not specified [RCV004201171] |
Chr5:140876601 [GRCh38] Chr5:140256186 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1928G>A (p.Arg643His) |
single nucleotide variant |
not specified [RCV004107964] |
Chr5:140871031 [GRCh38] Chr5:140250616 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1406C>A (p.Pro469Gln) |
single nucleotide variant |
not specified [RCV004089717] |
Chr5:140883674 [GRCh38] Chr5:140263259 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.551A>G (p.Lys184Arg) |
single nucleotide variant |
not specified [RCV004171118] |
Chr5:140856599 [GRCh38] Chr5:140236184 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1748T>C (p.Val583Ala) |
single nucleotide variant |
not specified [RCV004124384] |
Chr5:140928640 [GRCh38] Chr5:140308225 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1000T>C (p.Cys334Arg) |
single nucleotide variant |
not specified [RCV004169438] |
Chr5:140883268 [GRCh38] Chr5:140262853 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.913T>C (p.Tyr305His) |
single nucleotide variant |
not specified [RCV004179514] |
Chr5:140876385 [GRCh38] Chr5:140255970 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.762C>G (p.Asn254Lys) |
single nucleotide variant |
not specified [RCV004096113] |
Chr5:140883030 [GRCh38] Chr5:140262615 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1649A>G (p.Asp550Gly) |
single nucleotide variant |
not specified [RCV004158258] |
Chr5:140928541 [GRCh38] Chr5:140308126 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.460C>A (p.Leu154Ile) |
single nucleotide variant |
not specified [RCV004112731] |
Chr5:140875932 [GRCh38] Chr5:140255517 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.973A>G (p.Lys325Glu) |
single nucleotide variant |
not specified [RCV004209063] |
Chr5:140927865 [GRCh38] Chr5:140307450 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2295G>T (p.Lys765Asn) |
single nucleotide variant |
not specified [RCV004163058] |
Chr5:140871398 [GRCh38] Chr5:140250983 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.2093T>C (p.Val698Ala) |
single nucleotide variant |
not specified [RCV004140126] |
Chr5:140877565 [GRCh38] Chr5:140257150 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1166C>T (p.Thr389Met) |
single nucleotide variant |
not specified [RCV004118529] |
Chr5:140870269 [GRCh38] Chr5:140249854 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1501C>A (p.Arg501Ser) |
single nucleotide variant |
not specified [RCV004108108] |
Chr5:140870604 [GRCh38] Chr5:140250189 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.941A>G (p.Asp314Gly) |
single nucleotide variant |
not specified [RCV004099569] |
Chr5:140927833 [GRCh38] Chr5:140307418 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.821A>G (p.Asn274Ser) |
single nucleotide variant |
not specified [RCV004110450] |
Chr5:140876293 [GRCh38] Chr5:140255878 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1865G>A (p.Arg622His) |
single nucleotide variant |
not specified [RCV004069589] |
Chr5:140870968 [GRCh38] Chr5:140250553 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1705G>A (p.Ala569Thr) |
single nucleotide variant |
not specified [RCV004210057] |
Chr5:140870808 [GRCh38] Chr5:140250393 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1292G>A (p.Gly431Asp) |
single nucleotide variant |
not specified [RCV004140129] |
Chr5:140883560 [GRCh38] Chr5:140263145 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1230C>A (p.Asp410Glu) |
single nucleotide variant |
not specified [RCV004092402] |
Chr5:140876702 [GRCh38] Chr5:140256287 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.406G>A (p.Val136Met) |
single nucleotide variant |
not specified [RCV004142375] |
Chr5:140967172 [GRCh38] Chr5:140346757 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.2242T>G (p.Trp748Gly) |
single nucleotide variant |
not specified [RCV004099293] |
Chr5:140877714 [GRCh38] Chr5:140257299 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1067T>G (p.Val356Gly) |
single nucleotide variant |
not specified [RCV004177039] |
Chr5:140967833 [GRCh38] Chr5:140347418 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.805C>G (p.Pro269Ala) |
single nucleotide variant |
not specified [RCV004092403] |
Chr5:140876277 [GRCh38] Chr5:140255862 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1565C>T (p.Pro522Leu) |
single nucleotide variant |
not specified [RCV004121961] |
Chr5:140877037 [GRCh38] Chr5:140256622 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1319G>C (p.Arg440Thr) |
single nucleotide variant |
not specified [RCV004237067] |
Chr5:140876791 [GRCh38] Chr5:140256376 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1522G>A (p.Val508Met) |
single nucleotide variant |
not specified [RCV004179615] |
Chr5:140876994 [GRCh38] Chr5:140256579 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1396G>A (p.Glu466Lys) |
single nucleotide variant |
not specified [RCV004183303] |
Chr5:140883664 [GRCh38] Chr5:140263249 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.187G>C (p.Glu63Gln) |
single nucleotide variant |
not specified [RCV004227102] |
Chr5:140927079 [GRCh38] Chr5:140306664 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1589G>C (p.Ser530Thr) |
single nucleotide variant |
not specified [RCV004179424] |
Chr5:140968355 [GRCh38] Chr5:140347940 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.2236A>G (p.Thr746Ala) |
single nucleotide variant |
not specified [RCV004079894] |
Chr5:140929128 [GRCh38] Chr5:140308713 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.2221A>T (p.Ser741Cys) |
single nucleotide variant |
not specified [RCV004228210] |
Chr5:140858269 [GRCh38] Chr5:140237854 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2192C>G (p.Ala731Gly) |
single nucleotide variant |
not specified [RCV004120532] |
Chr5:140884460 [GRCh38] Chr5:140264045 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.485G>T (p.Gly162Val) |
single nucleotide variant |
not specified [RCV004098632] |
Chr5:140856533 [GRCh38] Chr5:140236118 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1637G>A (p.Gly546Asp) |
single nucleotide variant |
not specified [RCV004176197] |
Chr5:140877109 [GRCh38] Chr5:140256694 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1165G>T (p.Ala389Ser) |
single nucleotide variant |
not specified [RCV004180455] |
Chr5:140928057 [GRCh38] Chr5:140307642 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1250G>A (p.Ser417Asn) |
single nucleotide variant |
not specified [RCV004224477] |
Chr5:140876722 [GRCh38] Chr5:140256307 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1349C>T (p.Thr450Ile) |
single nucleotide variant |
not specified [RCV004216881] |
Chr5:140968115 [GRCh38] Chr5:140347700 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.358A>G (p.Asn120Asp) |
single nucleotide variant |
not specified [RCV004330006] |
Chr5:140869461 [GRCh38] Chr5:140249046 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.208A>G (p.Arg70Gly) |
single nucleotide variant |
not specified [RCV004312474] |
Chr5:140875680 [GRCh38] Chr5:140255265 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.211C>G (p.His71Asp) |
single nucleotide variant |
not specified [RCV004312476] |
Chr5:140875683 [GRCh38] Chr5:140255268 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1546A>C (p.Lys516Gln) |
single nucleotide variant |
not specified [RCV004312481] |
Chr5:140883814 [GRCh38] Chr5:140263399 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2276C>T (p.Ser759Phe) |
single nucleotide variant |
not specified [RCV004275464] |
Chr5:140871379 [GRCh38] Chr5:140250964 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.2306C>A (p.Ala769Asp) |
single nucleotide variant |
not specified [RCV004259655] |
Chr5:140858354 [GRCh38] Chr5:140237939 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2090A>G (p.Asn697Ser) |
single nucleotide variant |
not specified [RCV004270472] |
Chr5:140884358 [GRCh38] Chr5:140263943 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1231G>T (p.Ala411Ser) |
single nucleotide variant |
not specified [RCV004264549] |
Chr5:140857279 [GRCh38] Chr5:140236864 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1999T>A (p.Phe667Ile) |
single nucleotide variant |
not specified [RCV004284691] |
Chr5:140928891 [GRCh38] Chr5:140308476 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.2090A>T (p.Tyr697Phe) |
single nucleotide variant |
not specified [RCV004259261] |
Chr5:140858138 [GRCh38] Chr5:140237723 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.263C>G (p.Ser88Cys) |
single nucleotide variant |
not specified [RCV004248339] |
Chr5:140875735 [GRCh38] Chr5:140255320 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1 |
copy number loss |
See cases [RCV000136949] |
Chr5:140963199..142322798 [GRCh38] Chr5:140453735..141702363 [GRCh37] Chr5:140322968..141682547 [NCBI36] Chr5:5q31.3 |
uncertain significance |
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 |
copy number gain |
See cases [RCV000142806] |
Chr5:138942857..144605017 [GRCh38] Chr5:138278546..143984580 [GRCh37] Chr5:138306445..143964773 [NCBI36] Chr5:5q31.2-31.3 |
uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_018903.4(PCDHA12):c.1372C>A (p.Pro458Thr) |
single nucleotide variant |
not specified [RCV004330007] |
Chr5:140876844 [GRCh38] Chr5:140256429 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2048C>G (p.Ser683Trp) |
single nucleotide variant |
not specified [RCV004320427] |
Chr5:140884316 [GRCh38] Chr5:140263901 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1208T>A (p.Leu403Gln) |
single nucleotide variant |
not specified [RCV004319220] |
Chr5:140928100 [GRCh38] Chr5:140307685 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q31.3(chr5:140228262-140264271)x3 |
copy number gain |
not provided [RCV000745220] |
Chr5:140228262..140264271 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140229435-140261235)x3 |
copy number gain |
not provided [RCV000745221] |
Chr5:140229435..140261235 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140244335-140282431)x1 |
copy number loss |
not provided [RCV000745222] |
Chr5:140244335..140282431 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140266429-140298815)x0 |
copy number loss |
not provided [RCV000745223] |
Chr5:140266429..140298815 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140101612-140271424)x3 |
copy number gain |
not provided [RCV000745200] |
Chr5:140101612..140271424 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140102539-140347053)x1 |
copy number loss |
not provided [RCV000745201] |
Chr5:140102539..140347053 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140115433-140238694)x1 |
copy number loss |
not provided [RCV000745203] |
Chr5:140115433..140238694 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140115433-140264271)x3 |
copy number gain |
not provided [RCV000745204] |
Chr5:140115433..140264271 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140115433-140282431)x1 |
copy number loss |
not provided [RCV000745205] |
Chr5:140115433..140282431 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140115433-140344242)x1 |
copy number loss |
not provided [RCV000745206] |
Chr5:140115433..140344242 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140162610-140282431)x1 |
copy number loss |
not provided [RCV000745207] |
Chr5:140162610..140282431 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140166534-140271424)x3 |
copy number gain |
not provided [RCV000745208] |
Chr5:140166534..140271424 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140176243-140264271)x3 |
copy number gain |
not provided [RCV000745209] |
Chr5:140176243..140264271 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140176840-140264271)x3 |
copy number gain |
not provided [RCV000745210] |
Chr5:140176840..140264271 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140176842-140264271)x3 |
copy number gain |
not provided [RCV000745211] |
Chr5:140176842..140264271 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140181359-140264271)x3 |
copy number gain |
not provided [RCV000745212] |
Chr5:140181359..140264271 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140181892-140303139)x3 |
copy number gain |
not provided [RCV000745213] |
Chr5:140181892..140303139 [GRCh37] Chr5:5q31.3 |
benign |
NM_018903.4(PCDHA12):c.1503G>C (p.Glu501Asp) |
single nucleotide variant |
not specified [RCV004322314] |
Chr5:140876975 [GRCh38] Chr5:140256560 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1601A>G (p.Gln534Arg) |
single nucleotide variant |
not specified [RCV004333018] |
Chr5:140877073 [GRCh38] Chr5:140256658 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1231A>G (p.Ser411Gly) |
single nucleotide variant |
not specified [RCV004333808] |
Chr5:140883499 [GRCh38] Chr5:140263084 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1331G>A (p.Gly444Glu) |
single nucleotide variant |
not specified [RCV004333814] |
Chr5:140883599 [GRCh38] Chr5:140263184 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.1546A>C (p.Lys516Gln) |
single nucleotide variant |
not specified [RCV004333015] |
Chr5:140877018 [GRCh38] Chr5:140256603 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1439A>G (p.Gln480Arg) |
single nucleotide variant |
not specified [RCV004333817] |
Chr5:140883707 [GRCh38] Chr5:140263292 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.1471T>G (p.Ser491Ala) |
single nucleotide variant |
not specified [RCV004312480] |
Chr5:140883739 [GRCh38] Chr5:140263324 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1471T>G (p.Ser491Ala) |
single nucleotide variant |
not specified [RCV004312471] |
Chr5:140876943 [GRCh38] Chr5:140256528 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1613A>G (p.Asp538Gly) |
single nucleotide variant |
not specified [RCV004313469] |
Chr5:140870716 [GRCh38] Chr5:140250301 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2354G>A (p.Gly785Glu) |
single nucleotide variant |
not specified [RCV004302693] |
Chr5:140871457 [GRCh38] Chr5:140251042 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.1553A>T (p.Tyr518Phe) |
single nucleotide variant |
not specified [RCV004333016] |
Chr5:140877025 [GRCh38] Chr5:140256610 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1625T>C (p.Val542Ala) |
single nucleotide variant |
not specified [RCV004333807] |
Chr5:140877097 [GRCh38] Chr5:140256682 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1234G>A (p.Ala412Thr) |
single nucleotide variant |
not specified [RCV004333809] |
Chr5:140883502 [GRCh38] Chr5:140263087 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1318A>C (p.Ser440Arg) |
single nucleotide variant |
not specified [RCV004333813] |
Chr5:140883586 [GRCh38] Chr5:140263171 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.361G>T (p.Val121Leu) |
single nucleotide variant |
not specified [RCV004194302] |
Chr5:140875833 [GRCh38] Chr5:140255418 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.516T>G (p.Ser172Arg) |
single nucleotide variant |
not specified [RCV004240374] |
Chr5:140856564 [GRCh38] Chr5:140236149 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1964A>T (p.Glu655Val) |
single nucleotide variant |
not specified [RCV004086985] |
Chr5:140858012 [GRCh38] Chr5:140237597 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1256C>T (p.Ala419Val) |
single nucleotide variant |
not specified [RCV004320771] |
Chr5:140857304 [GRCh38] Chr5:140236889 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1853C>T (p.Ala618Val) |
single nucleotide variant |
not specified [RCV004267880] |
Chr5:140877325 [GRCh38] Chr5:140256910 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.510A>T (p.Lys170Asn) |
single nucleotide variant |
not specified [RCV004273732] |
Chr5:140856558 [GRCh38] Chr5:140236143 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.776A>G (p.Gln259Arg) |
single nucleotide variant |
not specified [RCV004281105] |
Chr5:140967542 [GRCh38] Chr5:140347127 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1885G>A (p.Glu629Lys) |
single nucleotide variant |
not specified [RCV004276456] |
Chr5:140870988 [GRCh38] Chr5:140250573 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2165G>T (p.Trp722Leu) |
single nucleotide variant |
not specified [RCV004253348] |
Chr5:140871268 [GRCh38] Chr5:140250853 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.517A>G (p.Met173Val) |
single nucleotide variant |
not specified [RCV004276413] |
Chr5:140927409 [GRCh38] Chr5:140306994 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1277C>G (p.Thr426Ser) |
single nucleotide variant |
not specified [RCV004333812] |
Chr5:140883545 [GRCh38] Chr5:140263130 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.151G>A (p.Asp51Asn) |
single nucleotide variant |
not specified [RCV004274626] |
Chr5:140882419 [GRCh38] Chr5:140262004 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.221T>C (p.Leu74Pro) |
single nucleotide variant |
not specified [RCV004248335] |
Chr5:140856269 [GRCh38] Chr5:140235854 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1288G>A (p.Gly430Ser) |
single nucleotide variant |
not specified [RCV004273859] |
Chr5:140870391 [GRCh38] Chr5:140249976 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1984G>A (p.Ala662Thr) |
single nucleotide variant |
not specified [RCV004280831] |
Chr5:140858032 [GRCh38] Chr5:140237617 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1750T>C (p.Ser584Pro) |
single nucleotide variant |
not specified [RCV004248813] |
Chr5:140877222 [GRCh38] Chr5:140256807 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1844G>A (p.Gly615Asp) |
single nucleotide variant |
not specified [RCV004281003] |
Chr5:140870947 [GRCh38] Chr5:140250532 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.2018C>G (p.Pro673Arg) |
single nucleotide variant |
not specified [RCV004280365] |
Chr5:140928910 [GRCh38] Chr5:140308495 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1674C>G (p.Asn558Lys) |
single nucleotide variant |
not specified [RCV004252129] |
Chr5:140857722 [GRCh38] Chr5:140237307 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2233G>A (p.Gly745Arg) |
single nucleotide variant |
not specified [RCV004271330] |
Chr5:140871336 [GRCh38] Chr5:140250921 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1189C>A (p.Leu397Met) |
single nucleotide variant |
not specified [RCV004277567] |
Chr5:140883457 [GRCh38] Chr5:140263042 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1114A>G (p.Ser372Gly) |
single nucleotide variant |
not specified [RCV004267947] |
Chr5:140870217 [GRCh38] Chr5:140249802 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.143C>T (p.Ala48Val) |
single nucleotide variant |
not specified [RCV004316202] |
Chr5:140856191 [GRCh38] Chr5:140235776 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1361C>T (p.Ala454Val) |
single nucleotide variant |
not specified [RCV004333815] |
Chr5:140883629 [GRCh38] Chr5:140263214 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1440G>C (p.Gln480His) |
single nucleotide variant |
not specified [RCV004333818] |
Chr5:140883708 [GRCh38] Chr5:140263293 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1123G>C (p.Val375Leu) |
single nucleotide variant |
not specified [RCV004279858] |
Chr5:140928015 [GRCh38] Chr5:140307600 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1190T>G (p.Leu397Arg) |
single nucleotide variant |
not specified [RCV004277568] |
Chr5:140883458 [GRCh38] Chr5:140263043 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1405C>G (p.Pro469Ala) |
single nucleotide variant |
not specified [RCV004333816] |
Chr5:140883673 [GRCh38] Chr5:140263258 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1993C>T (p.Leu665Phe) |
single nucleotide variant |
not specified [RCV004350676] |
Chr5:140858041 [GRCh38] Chr5:140237626 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.604G>A (p.Val202Met) |
single nucleotide variant |
not specified [RCV004352820] |
Chr5:140927496 [GRCh38] Chr5:140307081 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.286T>G (p.Cys96Gly) |
single nucleotide variant |
not specified [RCV004353799] |
Chr5:140882554 [GRCh38] Chr5:140262139 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.856G>A (p.Val286Met) |
single nucleotide variant |
not specified [RCV004345541] |
Chr5:140927748 [GRCh38] Chr5:140307333 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1010T>C (p.Leu337Ser) |
single nucleotide variant |
not specified [RCV004351650] |
Chr5:140883278 [GRCh38] Chr5:140262863 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.848T>C (p.Leu283Ser) |
single nucleotide variant |
not specified [RCV004361733] |
Chr5:140856896 [GRCh38] Chr5:140236481 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.140G>C (p.Arg47Pro) |
single nucleotide variant |
not specified [RCV004357948] |
Chr5:140882408 [GRCh38] Chr5:140261993 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1214C>G (p.Ser405Trp) |
single nucleotide variant |
not specified [RCV004339030] |
Chr5:140870317 [GRCh38] Chr5:140249902 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.719C>T (p.Pro240Leu) |
single nucleotide variant |
not specified [RCV004351156] |
Chr5:140882987 [GRCh38] Chr5:140262572 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1195A>T (p.Ile399Phe) |
single nucleotide variant |
not specified [RCV004354178] |
Chr5:140928087 [GRCh38] Chr5:140307672 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1664T>G (p.Val555Gly) |
single nucleotide variant |
not specified [RCV004352191] |
Chr5:140877136 [GRCh38] Chr5:140256721 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.2162G>T (p.Cys721Phe) |
single nucleotide variant |
not specified [RCV004352450] |
Chr5:140858210 [GRCh38] Chr5:140237795 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1070C>T (p.Pro357Leu) |
single nucleotide variant |
not specified [RCV004360735] |
Chr5:140857118 [GRCh38] Chr5:140236703 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1193T>C (p.Val398Ala) |
single nucleotide variant |
not specified [RCV004345586] |
Chr5:140876665 [GRCh38] Chr5:140256250 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1444G>A (p.Ala482Thr) |
single nucleotide variant |
not specified [RCV004342830] |
Chr5:140883712 [GRCh38] Chr5:140263297 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.849G>T (p.Arg283Ser) |
single nucleotide variant |
not specified [RCV004361988] |
Chr5:140883117 [GRCh38] Chr5:140262702 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.211G>T (p.Gly71Trp) |
single nucleotide variant |
not specified [RCV004336120] |
Chr5:140856259 [GRCh38] Chr5:140235844 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2306T>C (p.Met769Thr) |
single nucleotide variant |
not specified [RCV004356599] |
Chr5:140871409 [GRCh38] Chr5:140250994 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.995A>G (p.His332Arg) |
single nucleotide variant |
not specified [RCV004362921] |
Chr5:140870098 [GRCh38] Chr5:140249683 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.182C>A (p.Pro61Gln) |
single nucleotide variant |
not specified [RCV004361811] |
Chr5:140882450 [GRCh38] Chr5:140262035 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2141C>G (p.Thr714Arg) |
single nucleotide variant |
not specified [RCV004361812] |
Chr5:140884409 [GRCh38] Chr5:140263994 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.653G>A (p.Gly218Glu) |
single nucleotide variant |
not specified [RCV004339408] |
Chr5:140869756 [GRCh38] Chr5:140249341 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1735T>G (p.Leu579Val) |
single nucleotide variant |
not specified [RCV004348992] |
Chr5:140928627 [GRCh38] Chr5:140308212 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1771G>T (p.Gly591Cys) |
single nucleotide variant |
not specified [RCV004363807] |
Chr5:140928663 [GRCh38] Chr5:140308248 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1955A>G (p.Lys652Arg) |
single nucleotide variant |
not specified [RCV004359008] |
Chr5:140884223 [GRCh38] Chr5:140263808 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1911G>A (p.Leu637=) |
single nucleotide variant |
not provided [RCV003457448] |
Chr5:140968677 [GRCh38] Chr5:140348262 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018901.4(PCDHA10):c.179A>C (p.Gln60Pro) |
single nucleotide variant |
not provided [RCV003429799] |
Chr5:140856227 [GRCh38] Chr5:140235812 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.1428G>C (p.Thr476=) |
single nucleotide variant |
not provided [RCV003429815] |
Chr5:140883696 [GRCh38] Chr5:140263281 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018901.4(PCDHA10):c.2052C>T (p.Gly684=) |
single nucleotide variant |
not provided [RCV003457447] |
Chr5:140858100 [GRCh38] Chr5:140237685 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018901.4(PCDHA10):c.1668C>T (p.Asp556=) |
single nucleotide variant |
not provided [RCV003428626] |
Chr5:140857716 [GRCh38] Chr5:140237301 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.2164C>A (p.Arg722=) |
single nucleotide variant |
not provided [RCV003428629] |
Chr5:140884432 [GRCh38] Chr5:140264017 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018901.4(PCDHA10):c.1416C>G (p.His472Gln) |
single nucleotide variant |
not provided [RCV003428625] |
Chr5:140857464 [GRCh38] Chr5:140237049 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018901.4(PCDHA10):c.1863T>C (p.Phe621=) |
single nucleotide variant |
not provided [RCV003429802] |
Chr5:140857911 [GRCh38] Chr5:140237496 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018901.4(PCDHA10):c.2220T>C (p.Ser740=) |
single nucleotide variant |
not provided [RCV003429804] |
Chr5:140858268 [GRCh38] Chr5:140237853 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018907.4(PCDHA4):c.2385+59713A>C |
single nucleotide variant |
not provided [RCV003429809] |
Chr5:140869285 [GRCh38] Chr5:140248870 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018902.5(PCDHA11):c.1407A>G (p.Pro469=) |
single nucleotide variant |
not provided [RCV003429811] |
Chr5:140870510 [GRCh38] Chr5:140250095 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.1813G>T (p.Ala605Ser) |
single nucleotide variant |
not provided [RCV003429814] |
Chr5:140877285 [GRCh38] Chr5:140256870 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018901.4(PCDHA10):c.1014_1022del (p.Glu338_Leu340del) |
deletion |
not provided [RCV003429800] |
Chr5:140857058..140857066 [GRCh38] Chr5:140236643..140236651 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018902.5(PCDHA11):c.1800A>C (p.Ser600=) |
single nucleotide variant |
not provided [RCV003429812] |
Chr5:140870903 [GRCh38] Chr5:140250488 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.2202G>A (p.Pro734=) |
single nucleotide variant |
not provided [RCV003429818] |
Chr5:140884470 [GRCh38] Chr5:140264055 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.292C>A (p.Arg98=) |
single nucleotide variant |
not provided [RCV003428628] |
Chr5:140882560 [GRCh38] Chr5:140262145 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018899.6(PCDHAC2):c.480G>T (p.Ser160=) |
single nucleotide variant |
not provided [RCV003428630] |
Chr5:140967246 [GRCh38] Chr5:140346831 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018907.4(PCDHA4):c.2385+53659C>T |
single nucleotide variant |
not provided [RCV003428627] |
Chr5:140863231 [GRCh38] Chr5:140242816 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.2802C>T (p.Thr934=) |
single nucleotide variant |
PCDHA13-related disorder [RCV003942030] |
Chr5:141009886 [GRCh38] Chr5:140389471 [GRCh37] Chr5:5q31.3 |
benign |
NM_018903.4(PCDHA12):c.309T>C (p.Ser103=) |
single nucleotide variant |
not provided [RCV003885571] |
Chr5:140875781 [GRCh38] Chr5:140255366 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.2543-9_2543-8del |
deletion |
PCDHA13-related disorder [RCV003941959] |
Chr5:141009617..141009618 [GRCh38] Chr5:140389202..140389203 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.299C>T (p.Ala100Val) |
single nucleotide variant |
not provided [RCV003885570] |
Chr5:140875771 [GRCh38] Chr5:140255356 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018898.5(PCDHAC1):c.1423G>A (p.Gly475Arg) |
single nucleotide variant |
not specified [RCV004497872] |
Chr5:140928315 [GRCh38] Chr5:140307900 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.129G>C (p.Gln43His) |
single nucleotide variant |
not specified [RCV004497884] |
Chr5:140966895 [GRCh38] Chr5:140346480 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.686A>G (p.Asn229Ser) |
single nucleotide variant |
not specified [RCV004497881] |
Chr5:140927578 [GRCh38] Chr5:140307163 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1492C>T (p.Arg498Trp) |
single nucleotide variant |
EBV-positive nodal T- and NK-cell lymphoma [RCV004557865] |
Chr5:140876964 [GRCh38] Chr5:140256549 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018899.6(PCDHAC2):c.710G>T (p.Arg237Leu) |
single nucleotide variant |
not specified [RCV004497890] |
Chr5:140967476 [GRCh38] Chr5:140347061 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.196G>C (p.Gly66Arg) |
single nucleotide variant |
not specified [RCV004497886] |
Chr5:140966962 [GRCh38] Chr5:140346547 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1118T>A (p.Val373Asp) |
single nucleotide variant |
not specified [RCV004505161] |
Chr5:140857166 [GRCh38] Chr5:140236751 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1127A>G (p.His376Arg) |
single nucleotide variant |
not specified [RCV004505162] |
Chr5:140857175 [GRCh38] Chr5:140236760 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018901.4(PCDHA10):c.1199A>T (p.Tyr400Phe) |
single nucleotide variant |
not specified [RCV004505165] |
Chr5:140857247 [GRCh38] Chr5:140236832 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018901.4(PCDHA10):c.1255G>C (p.Ala419Pro) |
single nucleotide variant |
not specified [RCV004505166] |
Chr5:140857303 [GRCh38] Chr5:140236888 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1382T>C (p.Val461Ala) |
single nucleotide variant |
not specified [RCV004505168] |
Chr5:140857430 [GRCh38] Chr5:140237015 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1556T>C (p.Leu519Pro) |
single nucleotide variant |
not specified [RCV004505170] |
Chr5:140857604 [GRCh38] Chr5:140237189 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1318G>T (p.Val440Leu) |
single nucleotide variant |
not specified [RCV004505182] |
Chr5:140870421 [GRCh38] Chr5:140250006 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1138G>A (p.Ala380Thr) |
single nucleotide variant |
not specified [RCV004505163] |
Chr5:140857186 [GRCh38] Chr5:140236771 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1345G>A (p.Asp449Asn) |
single nucleotide variant |
not specified [RCV004505167] |
Chr5:140857393 [GRCh38] Chr5:140236978 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1511C>T (p.Ser504Leu) |
single nucleotide variant |
not specified [RCV004505169] |
Chr5:140857559 [GRCh38] Chr5:140237144 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.290G>T (p.Arg97Leu) |
single nucleotide variant |
not specified [RCV004505176] |
Chr5:140856338 [GRCh38] Chr5:140235923 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1935C>G (p.His645Gln) |
single nucleotide variant |
not specified [RCV004505200] |
Chr5:140877407 [GRCh38] Chr5:140256992 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.2075C>T (p.Ala692Val) |
single nucleotide variant |
not specified [RCV004505202] |
Chr5:140877547 [GRCh38] Chr5:140257132 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.418G>T (p.Val140Leu) |
single nucleotide variant |
not specified [RCV004505211] |
Chr5:140875890 [GRCh38] Chr5:140255475 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1233C>A (p.Ser411Arg) |
single nucleotide variant |
not specified [RCV004505221] |
Chr5:140883501 [GRCh38] Chr5:140263086 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1189C>G (p.Leu397Val) |
single nucleotide variant |
not specified [RCV004497871] |
Chr5:140928081 [GRCh38] Chr5:140307666 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1067T>C (p.Leu356Pro) |
single nucleotide variant |
not specified [RCV004505158] |
Chr5:140857115 [GRCh38] Chr5:140236700 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.934A>C (p.Ser312Arg) |
single nucleotide variant |
not specified [RCV004505180] |
Chr5:140856982 [GRCh38] Chr5:140236567 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1781G>T (p.Arg594Leu) |
single nucleotide variant |
not specified [RCV004505186] |
Chr5:140870884 [GRCh38] Chr5:140250469 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1678G>T (p.Asp560Tyr) |
single nucleotide variant |
not specified [RCV004505199] |
Chr5:140877150 [GRCh38] Chr5:140256735 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.274C>T (p.Arg92Cys) |
single nucleotide variant |
not specified [RCV004505207] |
Chr5:140875746 [GRCh38] Chr5:140255331 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1109C>T (p.Ala370Val) |
single nucleotide variant |
not specified [RCV004505220] |
Chr5:140883377 [GRCh38] Chr5:140262962 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1522G>T (p.Val508Leu) |
single nucleotide variant |
not specified [RCV004505223] |
Chr5:140883790 [GRCh38] Chr5:140263375 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1612C>T (p.Arg538Cys) |
single nucleotide variant |
not specified [RCV004505225] |
Chr5:140883880 [GRCh38] Chr5:140263465 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1849G>A (p.Gly617Ser) |
single nucleotide variant |
not specified [RCV004505229] |
Chr5:140884117 [GRCh38] Chr5:140263702 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.848G>A (p.Arg283Lys) |
single nucleotide variant |
not specified [RCV004505243] |
Chr5:140883116 [GRCh38] Chr5:140262701 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.761A>G (p.Gln254Arg) |
single nucleotide variant |
not specified [RCV004505179] |
Chr5:140856809 [GRCh38] Chr5:140236394 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1181A>G (p.Tyr394Cys) |
single nucleotide variant |
not specified [RCV004497870] |
Chr5:140928073 [GRCh38] Chr5:140307658 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.100G>A (p.Val34Ile) |
single nucleotide variant |
not specified [RCV004505157] |
Chr5:140856148 [GRCh38] Chr5:140235733 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1099G>A (p.Val367Ile) |
single nucleotide variant |
not specified [RCV004505159] |
Chr5:140857147 [GRCh38] Chr5:140236732 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1116C>G (p.Ser372Arg) |
single nucleotide variant |
not specified [RCV004505160] |
Chr5:140857164 [GRCh38] Chr5:140236749 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1156T>C (p.Cys386Arg) |
single nucleotide variant |
not specified [RCV004505164] |
Chr5:140857204 [GRCh38] Chr5:140236789 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1815G>T (p.Trp605Cys) |
single nucleotide variant |
not specified [RCV004505171] |
Chr5:140857863 [GRCh38] Chr5:140237448 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.2224G>T (p.Ala742Ser) |
single nucleotide variant |
not specified [RCV004505173] |
Chr5:140858272 [GRCh38] Chr5:140237857 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.510A>C (p.Lys170Asn) |
single nucleotide variant |
not specified [RCV004505177] |
Chr5:140856558 [GRCh38] Chr5:140236143 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.650G>A (p.Gly217Asp) |
single nucleotide variant |
not specified [RCV004505178] |
Chr5:140856698 [GRCh38] Chr5:140236283 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.2270G>T (p.Arg757Met) |
single nucleotide variant |
not specified [RCV004505206] |
Chr5:140877742 [GRCh38] Chr5:140257327 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.292C>T (p.Arg98Trp) |
single nucleotide variant |
not specified [RCV004505208] |
Chr5:140875764 [GRCh38] Chr5:140255349 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.417G>T (p.Lys139Asn) |
single nucleotide variant |
not specified [RCV004505210] |
Chr5:140875889 [GRCh38] Chr5:140255474 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.577G>A (p.Glu193Lys) |
single nucleotide variant |
not specified [RCV004505212] |
Chr5:140876049 [GRCh38] Chr5:140255634 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.746T>C (p.Val249Ala) |
single nucleotide variant |
not specified [RCV004505214] |
Chr5:140876218 [GRCh38] Chr5:140255803 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1644C>G (p.Asn548Lys) |
single nucleotide variant |
not specified [RCV004505226] |
Chr5:140883912 [GRCh38] Chr5:140263497 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.2296G>A (p.Asp766Asn) |
single nucleotide variant |
not specified [RCV004335234] |
Chr5:140858344 [GRCh38] Chr5:140237929 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1813T>A (p.Trp605Arg) |
single nucleotide variant |
not specified [RCV004353219] |
Chr5:140857861 [GRCh38] Chr5:140237446 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2197C>T (p.Arg733Cys) |
single nucleotide variant |
not specified [RCV004338873] |
Chr5:140968963 [GRCh38] Chr5:140348548 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1915C>T (p.Arg639Trp) |
single nucleotide variant |
not specified [RCV004346642] |
Chr5:140928807 [GRCh38] Chr5:140308392 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1726G>A (p.Ala576Thr) |
single nucleotide variant |
not specified [RCV004349770] |
Chr5:140877198 [GRCh38] Chr5:140256783 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1067G>A (p.Gly356Asp) |
single nucleotide variant |
not specified [RCV004348696] |
Chr5:140927959 [GRCh38] Chr5:140307544 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2207C>A (p.Ala736Glu) |
single nucleotide variant |
not specified [RCV004361436] |
Chr5:140968973 [GRCh38] Chr5:140348558 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1582A>G (p.Ser528Gly) |
single nucleotide variant |
not specified [RCV004357320] |
Chr5:140968348 [GRCh38] Chr5:140347933 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2134G>T (p.Val712Leu) |
single nucleotide variant |
not specified [RCV004349716] |
Chr5:140884402 [GRCh38] Chr5:140263987 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.989T>C (p.Val330Ala) |
single nucleotide variant |
not specified [RCV004343426] |
Chr5:140927881 [GRCh38] Chr5:140307466 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.145G>T (p.Ala49Ser) |
single nucleotide variant |
not specified [RCV004366151] |
Chr5:140875617 [GRCh38] Chr5:140255202 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.154G>A (p.Gly52Arg) |
single nucleotide variant |
not specified [RCV004336797] |
Chr5:140856202 [GRCh38] Chr5:140235787 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.850C>G (p.Pro284Ala) |
single nucleotide variant |
not specified [RCV004352119] |
Chr5:140883118 [GRCh38] Chr5:140262703 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1800T>C (p.Ser600=) |
single nucleotide variant |
not provided [RCV003429801] |
Chr5:140857848 [GRCh38] Chr5:140237433 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.768A>G (p.Gln256=) |
single nucleotide variant |
not provided [RCV003429813] |
Chr5:140876240 [GRCh38] Chr5:140255825 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018901.4(PCDHA10):c.2247G>A (p.Ser749=) |
single nucleotide variant |
not provided [RCV003429805] |
Chr5:140858295 [GRCh38] Chr5:140237880 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018907.4(PCDHA4):c.2385+53642A>G |
single nucleotide variant |
not provided [RCV003429807] |
Chr5:140863214 [GRCh38] Chr5:140242799 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018902.5(PCDHA11):c.98A>G (p.Tyr33Cys) |
single nucleotide variant |
not provided [RCV003429808] |
Chr5:140869201 [GRCh38] Chr5:140248786 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018902.5(PCDHA11):c.516A>G (p.Leu172=) |
single nucleotide variant |
not provided [RCV003429810] |
Chr5:140869619 [GRCh38] Chr5:140249204 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018902.5(PCDHA11):c.2391+12410G>A |
single nucleotide variant |
not provided [RCV003429816] |
Chr5:140883904 [GRCh38] Chr5:140263489 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018907.4(PCDHA4):c.2385+74492C>A |
single nucleotide variant |
not provided [RCV003429817] |
Chr5:140884064 [GRCh38] Chr5:140263649 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018898.5(PCDHAC1):c.1671T>C (p.Phe557=) |
single nucleotide variant |
not provided [RCV003429819] |
Chr5:140928563 [GRCh38] Chr5:140308148 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018899.6(PCDHAC2):c.1161C>G (p.Leu387=) |
single nucleotide variant |
not provided [RCV003429820] |
Chr5:140967927 [GRCh38] Chr5:140347512 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018899.6(PCDHAC2):c.2460G>A (p.Ser820=) |
single nucleotide variant |
not provided [RCV003429821] |
Chr5:140969226 [GRCh38] Chr5:140348811 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018901.4(PCDHA10):c.2017C>T (p.Gln673Ter) |
single nucleotide variant |
not provided [RCV003429803] |
Chr5:140858065 [GRCh38] Chr5:140237650 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018907.4(PCDHA4):c.2385+53502A>G |
single nucleotide variant |
not provided [RCV003429806] |
Chr5:140863074 [GRCh38] Chr5:140242659 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018899.6(PCDHAC2):c.1514C>T (p.Thr505Ile) |
single nucleotide variant |
not specified [RCV004497885] |
Chr5:140968280 [GRCh38] Chr5:140347865 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.806A>C (p.Gln269Pro) |
single nucleotide variant |
not specified [RCV004497882] |
Chr5:140927698 [GRCh38] Chr5:140307283 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1661T>A (p.Val554Asp) |
single nucleotide variant |
not specified [RCV004497873] |
Chr5:140928553 [GRCh38] Chr5:140308138 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2096G>A (p.Arg699Gln) |
single nucleotide variant |
not specified [RCV004497887] |
Chr5:140968862 [GRCh38] Chr5:140348447 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.839T>G (p.Leu280Arg) |
single nucleotide variant |
not specified [RCV004497883] |
Chr5:140927731 [GRCh38] Chr5:140307316 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.442G>A (p.Ala148Thr) |
single nucleotide variant |
not specified [RCV004497878] |
Chr5:140927334 [GRCh38] Chr5:140306919 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.307A>G (p.Ser103Gly) |
single nucleotide variant |
not specified [RCV004505188] |
Chr5:140869410 [GRCh38] Chr5:140248995 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.514C>G (p.Leu172Val) |
single nucleotide variant |
not specified [RCV004505190] |
Chr5:140869617 [GRCh38] Chr5:140249202 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1093G>C (p.Val365Leu) |
single nucleotide variant |
not specified [RCV004505193] |
Chr5:140876565 [GRCh38] Chr5:140256150 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1456A>G (p.Lys486Glu) |
single nucleotide variant |
not specified [RCV004505195] |
Chr5:140876928 [GRCh38] Chr5:140256513 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.2200C>T (p.Pro734Ser) |
single nucleotide variant |
not specified [RCV004505203] |
Chr5:140877672 [GRCh38] Chr5:140257257 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.2213C>T (p.Thr738Met) |
single nucleotide variant |
not specified [RCV004505204] |
Chr5:140877685 [GRCh38] Chr5:140257270 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1108G>T (p.Ala370Ser) |
single nucleotide variant |
not specified [RCV004505219] |
Chr5:140883376 [GRCh38] Chr5:140262961 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1804G>T (p.Gly602Cys) |
single nucleotide variant |
not specified [RCV004505227] |
Chr5:140884072 [GRCh38] Chr5:140263657 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2351A>C (p.Glu784Ala) |
single nucleotide variant |
not specified [RCV004505233] |
Chr5:140884619 [GRCh38] Chr5:140264204 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.484A>G (p.Ile162Val) |
single nucleotide variant |
not specified [RCV004505236] |
Chr5:140882752 [GRCh38] Chr5:140262337 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.545C>A (p.Ala182Glu) |
single nucleotide variant |
not specified [RCV004505239] |
Chr5:140882813 [GRCh38] Chr5:140262398 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.2234G>T (p.Ser745Ile) |
single nucleotide variant |
not specified [RCV004505174] |
Chr5:140858282 [GRCh38] Chr5:140237867 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.577C>G (p.Arg193Gly) |
single nucleotide variant |
not specified [RCV004497879] |
Chr5:140927469 [GRCh38] Chr5:140307054 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.311C>T (p.Pro104Leu) |
single nucleotide variant |
not specified [RCV004497877] |
Chr5:140927203 [GRCh38] Chr5:140306788 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1742C>T (p.Pro581Leu) |
single nucleotide variant |
not specified [RCV004505185] |
Chr5:140870845 [GRCh38] Chr5:140250430 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1678G>C (p.Asp560His) |
single nucleotide variant |
not specified [RCV004505198] |
Chr5:140877150 [GRCh38] Chr5:140256735 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.371A>G (p.Lys124Arg) |
single nucleotide variant |
not specified [RCV004505209] |
Chr5:140875843 [GRCh38] Chr5:140255428 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.673T>C (p.Ser225Pro) |
single nucleotide variant |
not specified [RCV004505213] |
Chr5:140876145 [GRCh38] Chr5:140255730 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.824G>C (p.Gly275Ala) |
single nucleotide variant |
not specified [RCV004505215] |
Chr5:140876296 [GRCh38] Chr5:140255881 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.860T>C (p.Val287Ala) |
single nucleotide variant |
not specified [RCV004505216] |
Chr5:140876332 [GRCh38] Chr5:140255917 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2048C>T (p.Ser683Leu) |
single nucleotide variant |
not specified [RCV004505230] |
Chr5:140884316 [GRCh38] Chr5:140263901 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.742A>G (p.Lys248Glu) |
single nucleotide variant |
not specified [RCV004505242] |
Chr5:140883010 [GRCh38] Chr5:140262595 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.314T>C (p.Ile105Thr) |
single nucleotide variant |
not specified [RCV004497889] |
Chr5:140967080 [GRCh38] Chr5:140346665 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.285G>T (p.Leu95Phe) |
single nucleotide variant |
not specified [RCV004497876] |
Chr5:140927177 [GRCh38] Chr5:140306762 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.2291C>T (p.Ser764Phe) |
single nucleotide variant |
not specified [RCV004497875] |
Chr5:140929183 [GRCh38] Chr5:140308768 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2206G>A (p.Ala736Thr) |
single nucleotide variant |
not specified [RCV004497888] |
Chr5:140968972 [GRCh38] Chr5:140348557 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1412G>A (p.Cys471Tyr) |
single nucleotide variant |
not specified [RCV004505183] |
Chr5:140870515 [GRCh38] Chr5:140250100 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1414C>T (p.His472Tyr) |
single nucleotide variant |
not specified [RCV004505184] |
Chr5:140870517 [GRCh38] Chr5:140250102 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.293A>G (p.Gln98Arg) |
single nucleotide variant |
not specified [RCV004505187] |
Chr5:140869396 [GRCh38] Chr5:140248981 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018902.5(PCDHA11):c.487G>A (p.Glu163Lys) |
single nucleotide variant |
not specified [RCV004505189] |
Chr5:140869590 [GRCh38] Chr5:140249175 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.723G>T (p.Glu241Asp) |
single nucleotide variant |
not specified [RCV004505191] |
Chr5:140869826 [GRCh38] Chr5:140249411 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.824G>A (p.Gly275Glu) |
single nucleotide variant |
not specified [RCV004505192] |
Chr5:140869927 [GRCh38] Chr5:140249512 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1586A>G (p.Glu529Gly) |
single nucleotide variant |
not specified [RCV004505197] |
Chr5:140877058 [GRCh38] Chr5:140256643 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1474T>C (p.Tyr492His) |
single nucleotide variant |
not specified [RCV004505222] |
Chr5:140883742 [GRCh38] Chr5:140263327 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1535C>T (p.Ala512Val) |
single nucleotide variant |
not specified [RCV004505224] |
Chr5:140883803 [GRCh38] Chr5:140263388 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.439C>A (p.Pro147Thr) |
single nucleotide variant |
not specified [RCV004505235] |
Chr5:140882707 [GRCh38] Chr5:140262292 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.512G>A (p.Arg171Gln) |
single nucleotide variant |
not specified [RCV004505237] |
Chr5:140882780 [GRCh38] Chr5:140262365 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.623A>T (p.His208Leu) |
single nucleotide variant |
not specified [RCV004505240] |
Chr5:140882891 [GRCh38] Chr5:140262476 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.626G>A (p.Ser209Asn) |
single nucleotide variant |
not specified [RCV004505241] |
Chr5:140882894 [GRCh38] Chr5:140262479 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.923T>A (p.Leu308Gln) |
single nucleotide variant |
not specified [RCV004505244] |
Chr5:140883191 [GRCh38] Chr5:140262776 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.2036C>T (p.Ser679Leu) |
single nucleotide variant |
not specified [RCV004505172] |
Chr5:140858084 [GRCh38] Chr5:140237669 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1054A>C (p.Ile352Leu) |
single nucleotide variant |
not specified [RCV004505218] |
Chr5:140883322 [GRCh38] Chr5:140262907 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1668C>G (p.Asp556Glu) |
single nucleotide variant |
not specified [RCV004653086] |
Chr5:140857716 [GRCh38] Chr5:140237301 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.2377C>A (p.His793Asn) |
single nucleotide variant |
not specified [RCV004653090] |
Chr5:140858425 [GRCh38] Chr5:140238010 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1625C>A (p.Pro542Gln) |
single nucleotide variant |
not specified [RCV004653094] |
Chr5:140870728 [GRCh38] Chr5:140250313 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1218G>C (p.Leu406Phe) |
single nucleotide variant |
not specified [RCV004653096] |
Chr5:140870321 [GRCh38] Chr5:140249906 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.96G>C (p.Leu32Phe) |
single nucleotide variant |
not specified [RCV004653153] |
Chr5:140966862 [GRCh38] Chr5:140346447 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.392C>T (p.Pro131Leu) |
single nucleotide variant |
not specified [RCV004664325] |
Chr5:140869495 [GRCh38] Chr5:140249080 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.37C>A (p.Arg13Ser) |
single nucleotide variant |
not specified [RCV004653098] |
Chr5:140875509 [GRCh38] Chr5:140255094 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.565A>G (p.Ser189Gly) |
single nucleotide variant |
not specified [RCV004653099] |
Chr5:140876037 [GRCh38] Chr5:140255622 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1600G>A (p.Val534Met) |
single nucleotide variant |
not specified [RCV004653087] |
Chr5:140857648 [GRCh38] Chr5:140237233 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.361G>A (p.Val121Met) |
single nucleotide variant |
not specified [RCV004653091] |
Chr5:140869464 [GRCh38] Chr5:140249049 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2284G>A (p.Gly762Ser) |
single nucleotide variant |
not specified [RCV004653092] |
Chr5:140871387 [GRCh38] Chr5:140250972 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1411T>C (p.Cys471Arg) |
single nucleotide variant |
not specified [RCV004653093] |
Chr5:140870514 [GRCh38] Chr5:140250099 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.968T>C (p.Ile323Thr) |
single nucleotide variant |
not specified [RCV004653101] |
Chr5:140876440 [GRCh38] Chr5:140256025 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1026C>A (p.Phe342Leu) |
single nucleotide variant |
not specified [RCV004653146] |
Chr5:140927918 [GRCh38] Chr5:140307503 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018898.5(PCDHAC1):c.1864C>T (p.Arg622Cys) |
single nucleotide variant |
not specified [RCV004653148] |
Chr5:140928756 [GRCh38] Chr5:140308341 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1028T>C (p.Leu343Pro) |
single nucleotide variant |
not specified [RCV004653150] |
Chr5:140927920 [GRCh38] Chr5:140307505 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1504G>T (p.Ala502Ser) |
single nucleotide variant |
not specified [RCV004664324] |
Chr5:140870607 [GRCh38] Chr5:140250192 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1073C>A (p.Pro358His) |
single nucleotide variant |
not specified [RCV004664332] |
Chr5:140883341 [GRCh38] Chr5:140262926 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.89A>G (p.Gln30Arg) |
single nucleotide variant |
not specified [RCV004664333] |
Chr5:140882357 [GRCh38] Chr5:140261942 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2051C>T (p.Ala684Val) |
single nucleotide variant |
not specified [RCV004505231] |
Chr5:140884319 [GRCh38] Chr5:140263904 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.280G>A (p.Glu94Lys) |
single nucleotide variant |
not specified [RCV004505234] |
Chr5:140882548 [GRCh38] Chr5:140262133 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1492T>G (p.Leu498Val) |
single nucleotide variant |
not specified [RCV004653085] |
Chr5:140857540 [GRCh38] Chr5:140237125 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.567T>A (p.Ser189Arg) |
single nucleotide variant |
not specified [RCV004653100] |
Chr5:140876039 [GRCh38] Chr5:140255624 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1157G>T (p.Cys386Phe) |
single nucleotide variant |
not specified [RCV004664327] |
Chr5:140870260 [GRCh38] Chr5:140249845 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.469G>C (p.Ala157Pro) |
single nucleotide variant |
not specified [RCV004664334] |
Chr5:140882737 [GRCh38] Chr5:140262322 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.812A>C (p.Glu271Ala) |
single nucleotide variant |
not specified [RCV004653103] |
Chr5:140876284 [GRCh38] Chr5:140255869 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1328T>G (p.Val443Gly) |
single nucleotide variant |
not specified [RCV004653105] |
Chr5:140883596 [GRCh38] Chr5:140263181 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1502G>C (p.Arg501Pro) |
single nucleotide variant |
not specified [RCV004664320] |
Chr5:140857550 [GRCh38] Chr5:140237135 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1285G>A (p.Gly429Arg) |
single nucleotide variant |
not specified [RCV004664321] |
Chr5:140857333 [GRCh38] Chr5:140236918 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.499C>G (p.Leu167Val) |
single nucleotide variant |
not specified [RCV004664322] |
Chr5:140856547 [GRCh38] Chr5:140236132 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1759G>A (p.Gly587Ser) |
single nucleotide variant |
not specified [RCV004653089] |
Chr5:140857807 [GRCh38] Chr5:140237392 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.535G>A (p.Glu179Lys) |
single nucleotide variant |
not specified [RCV004653102] |
Chr5:140876007 [GRCh38] Chr5:140255592 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.880C>A (p.Gln294Lys) |
single nucleotide variant |
not specified [RCV004653147] |
Chr5:140927772 [GRCh38] Chr5:140307357 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2023G>A (p.Ala675Thr) |
single nucleotide variant |
not specified [RCV004653151] |
Chr5:140968789 [GRCh38] Chr5:140348374 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.906C>G (p.Asp302Glu) |
single nucleotide variant |
not specified [RCV004664378] |
Chr5:140967672 [GRCh38] Chr5:140347257 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.767A>C (p.Gln256Pro) |
single nucleotide variant |
not specified [RCV004664375] |
Chr5:140927659 [GRCh38] Chr5:140307244 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.569T>A (p.Ile190Lys) |
single nucleotide variant |
not specified [RCV004664329] |
Chr5:140876041 [GRCh38] Chr5:140255626 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1273G>T (p.Val425Leu) |
single nucleotide variant |
not specified [RCV004664331] |
Chr5:140883541 [GRCh38] Chr5:140263126 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.2054T>C (p.Val685Ala) |
single nucleotide variant |
not specified [RCV004664372] |
Chr5:140928946 [GRCh38] Chr5:140308531 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1648G>T (p.Asp550Tyr) |
single nucleotide variant |
not specified [RCV004664374] |
Chr5:140928540 [GRCh38] Chr5:140308125 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.166C>G (p.Arg56Gly) |
single nucleotide variant |
not specified [RCV004664371] |
Chr5:140927058 [GRCh38] Chr5:140306643 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.380G>A (p.Gly127Asp) |
single nucleotide variant |
not specified [RCV004664373] |
Chr5:140927272 [GRCh38] Chr5:140306857 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2290C>G (p.Pro764Ala) |
single nucleotide variant |
not specified [RCV004653095] |
Chr5:140871393 [GRCh38] Chr5:140250978 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.233T>C (p.Leu78Pro) |
single nucleotide variant |
not specified [RCV004664323] |
Chr5:140856281 [GRCh38] Chr5:140235866 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1396G>C (p.Glu466Gln) |
single nucleotide variant |
not specified [RCV004653097] |
Chr5:140876868 [GRCh38] Chr5:140256453 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.611A>C (p.Gln204Pro) |
single nucleotide variant |
PCDHA12-related condition [RCV004732226] |
Chr5:140876083 [GRCh38] Chr5:140255668 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018900.4(PCDHA1):c.2447T>C (p.Met816Thr) |
single nucleotide variant |
not specified [RCV004836576] |
Chr5:140979001 [GRCh38] Chr5:140358586 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.82G>T (p.Gly28Cys) |
single nucleotide variant |
not specified [RCV004836582] |
Chr5:140856130 [GRCh38] Chr5:140235715 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1498G>A (p.Glu500Lys) |
single nucleotide variant |
not specified [RCV004836591] |
Chr5:140857546 [GRCh38] Chr5:140237131 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1705G>C (p.Ala569Pro) |
single nucleotide variant |
not specified [RCV004836592] |
Chr5:140857753 [GRCh38] Chr5:140237338 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.544A>G (p.Ile182Val) |
single nucleotide variant |
not specified [RCV004836593] |
Chr5:140856592 [GRCh38] Chr5:140236177 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1270G>T (p.Val424Leu) |
single nucleotide variant |
not specified [RCV004836596] |
Chr5:140870373 [GRCh38] Chr5:140249958 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2088C>A (p.Asn696Lys) |
single nucleotide variant |
not specified [RCV004836598] |
Chr5:140871191 [GRCh38] Chr5:140250776 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1317G>C (p.Arg439Ser) |
single nucleotide variant |
not specified [RCV004836599] |
Chr5:140870420 [GRCh38] Chr5:140250005 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.1700C>G (p.Ala567Gly) |
single nucleotide variant |
not specified [RCV004836607] |
Chr5:140877172 [GRCh38] Chr5:140256757 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1904G>T (p.Arg635Leu) |
single nucleotide variant |
not specified [RCV004836608] |
Chr5:140877376 [GRCh38] Chr5:140256961 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1747C>T (p.Arg583Trp) |
single nucleotide variant |
not specified [RCV004836616] |
Chr5:140877219 [GRCh38] Chr5:140256804 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2104A>G (p.Ile702Val) |
single nucleotide variant |
not specified [RCV004836619] |
Chr5:140884372 [GRCh38] Chr5:140263957 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2192C>T (p.Ala731Val) |
single nucleotide variant |
not specified [RCV004836623] |
Chr5:140884460 [GRCh38] Chr5:140264045 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1460A>G (p.Asn487Ser) |
single nucleotide variant |
not specified [RCV004836624] |
Chr5:140883728 [GRCh38] Chr5:140263313 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1408C>T (p.Pro470Ser) |
single nucleotide variant |
not specified [RCV004836627] |
Chr5:140883676 [GRCh38] Chr5:140263261 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1112T>G (p.Leu371Arg) |
single nucleotide variant |
not specified [RCV004836631] |
Chr5:140883380 [GRCh38] Chr5:140262965 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018911.3(PCDHA8):c.2432C>T (p.Ser811Phe) |
single nucleotide variant |
not specified [RCV004836703] |
Chr5:140978986 [GRCh38] Chr5:140358571 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1924A>G (p.Ile642Val) |
single nucleotide variant |
not specified [RCV004664379] |
Chr5:140968690 [GRCh38] Chr5:140348275 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1763G>A (p.Gly588Asp) |
single nucleotide variant |
not specified [RCV004664330] |
Chr5:140877235 [GRCh38] Chr5:140256820 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1957G>T (p.Asp653Tyr) |
single nucleotide variant |
not specified [RCV004664335] |
Chr5:140884225 [GRCh38] Chr5:140263810 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1181C>G (p.Pro394Arg) |
single nucleotide variant |
not specified [RCV004653106] |
Chr5:140883449 [GRCh38] Chr5:140263034 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1898G>T (p.Arg633Met) |
single nucleotide variant |
not specified [RCV004653149] |
Chr5:140928790 [GRCh38] Chr5:140308375 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2285A>G (p.Asn762Ser) |
single nucleotide variant |
not specified [RCV004653152] |
Chr5:140969051 [GRCh38] Chr5:140348636 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.52C>T (p.Leu18Phe) |
single nucleotide variant |
not specified [RCV004653104] |
Chr5:140882320 [GRCh38] Chr5:140261905 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2452G>A (p.Gly818Arg) |
single nucleotide variant |
not specified [RCV004664377] |
Chr5:140969218 [GRCh38] Chr5:140348803 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2428A>G (p.Asn810Asp) |
single nucleotide variant |
not specified [RCV004664376] |
Chr5:140969194 [GRCh38] Chr5:140348779 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.43C>T (p.Leu15Phe) |
single nucleotide variant |
not specified [RCV004836584] |
Chr5:140856091 [GRCh38] Chr5:140235676 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1967C>T (p.Pro656Leu) |
single nucleotide variant |
not specified [RCV004836585] |
Chr5:140858015 [GRCh38] Chr5:140237600 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1717G>A (p.Gly573Ser) |
single nucleotide variant |
not specified [RCV004836586] |
Chr5:140857765 [GRCh38] Chr5:140237350 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.781A>G (p.Ile261Val) |
single nucleotide variant |
not specified [RCV004836587] |
Chr5:140856829 [GRCh38] Chr5:140236414 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.377C>A (p.Ala126Asp) |
single nucleotide variant |
not specified [RCV004836725] |
Chr5:140927269 [GRCh38] Chr5:140306854 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.847C>T (p.Arg283Cys) |
single nucleotide variant |
not specified [RCV004836739] |
Chr5:140927739 [GRCh38] Chr5:140307324 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1510G>T (p.Val504Leu) |
single nucleotide variant |
not specified [RCV004836740] |
Chr5:140968276 [GRCh38] Chr5:140347861 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2147C>G (p.Ser716Cys) |
single nucleotide variant |
not specified [RCV004836742] |
Chr5:140968913 [GRCh38] Chr5:140348498 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1953G>C (p.Glu651Asp) |
single nucleotide variant |
not specified [RCV004836744] |
Chr5:140968719 [GRCh38] Chr5:140348304 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1139C>T (p.Pro380Leu) |
single nucleotide variant |
not specified [RCV004836749] |
Chr5:140967905 [GRCh38] Chr5:140347490 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1777G>A (p.Val593Met) |
single nucleotide variant |
not specified [RCV004836589] |
Chr5:140857825 [GRCh38] Chr5:140237410 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1009G>T (p.Val337Leu) |
single nucleotide variant |
not specified [RCV004836600] |
Chr5:140870112 [GRCh38] Chr5:140249697 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1097C>G (p.Thr366Arg) |
single nucleotide variant |
not specified [RCV004836601] |
Chr5:140870200 [GRCh38] Chr5:140249785 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1303T>G (p.Trp435Gly) |
single nucleotide variant |
not specified [RCV004836605] |
Chr5:140870406 [GRCh38] Chr5:140249991 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1553A>G (p.Tyr518Cys) |
single nucleotide variant |
not specified [RCV004836625] |
Chr5:140883821 [GRCh38] Chr5:140263406 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1358C>A (p.Ala453Glu) |
single nucleotide variant |
not specified [RCV004836588] |
Chr5:140857406 [GRCh38] Chr5:140236991 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.72G>C (p.Glu24Asp) |
single nucleotide variant |
not specified [RCV004836594] |
Chr5:140856120 [GRCh38] Chr5:140235705 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1420T>C (p.Phe474Leu) |
single nucleotide variant |
not specified [RCV004836595] |
Chr5:140857468 [GRCh38] Chr5:140237053 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.464A>T (p.Glu155Val) |
single nucleotide variant |
not specified [RCV004836603] |
Chr5:140869567 [GRCh38] Chr5:140249152 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.550A>G (p.Thr184Ala) |
single nucleotide variant |
not specified [RCV004836612] |
Chr5:140876022 [GRCh38] Chr5:140255607 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1148G>A (p.Gly383Glu) |
single nucleotide variant |
not specified [RCV004836615] |
Chr5:140876620 [GRCh38] Chr5:140256205 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.153C>A (p.Asp51Glu) |
single nucleotide variant |
not specified [RCV004836621] |
Chr5:140882421 [GRCh38] Chr5:140262006 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.2186G>A (p.Ser729Asn) |
single nucleotide variant |
not specified [RCV004836724] |
Chr5:140929078 [GRCh38] Chr5:140308663 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1843A>G (p.Ile615Val) |
single nucleotide variant |
not specified [RCV004836726] |
Chr5:140928735 [GRCh38] Chr5:140308320 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1582C>G (p.Arg528Gly) |
single nucleotide variant |
not specified [RCV004836735] |
Chr5:140928474 [GRCh38] Chr5:140308059 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1883C>T (p.Thr628Ile) |
single nucleotide variant |
not specified [RCV004836609] |
Chr5:140877355 [GRCh38] Chr5:140256940 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1525T>G (p.Ser509Ala) |
single nucleotide variant |
not specified [RCV004836610] |
Chr5:140876997 [GRCh38] Chr5:140256582 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1615G>T (p.Asp539Tyr) |
single nucleotide variant |
not specified [RCV004836613] |
Chr5:140877087 [GRCh38] Chr5:140256672 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1976C>A (p.Thr659Lys) |
single nucleotide variant |
not specified [RCV004836590] |
Chr5:140858024 [GRCh38] Chr5:140237609 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1856A>C (p.His619Pro) |
single nucleotide variant |
not specified [RCV004836617] |
Chr5:140877328 [GRCh38] Chr5:140256913 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.998A>C (p.His333Pro) |
single nucleotide variant |
not specified [RCV004836622] |
Chr5:140883266 [GRCh38] Chr5:140262851 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.233A>G (p.Asn78Ser) |
single nucleotide variant |
not specified [RCV004836628] |
Chr5:140882501 [GRCh38] Chr5:140262086 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1838T>C (p.Leu613Pro) |
single nucleotide variant |
not specified [RCV004836630] |
Chr5:140884106 [GRCh38] Chr5:140263691 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018898.5(PCDHAC1):c.349A>T (p.Thr117Ser) |
single nucleotide variant |
not specified [RCV004836727] |
Chr5:140927241 [GRCh38] Chr5:140306826 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.2267A>G (p.Tyr756Cys) |
single nucleotide variant |
not specified [RCV004836728] |
Chr5:140929159 [GRCh38] Chr5:140308744 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1673C>T (p.Pro558Leu) |
single nucleotide variant |
not specified [RCV004836732] |
Chr5:140928565 [GRCh38] Chr5:140308150 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1757C>T (p.Ala586Val) |
single nucleotide variant |
not specified [RCV004836583] |
Chr5:140857805 [GRCh38] Chr5:140237390 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.868C>T (p.His290Tyr) |
single nucleotide variant |
not specified [RCV004836602] |
Chr5:140869971 [GRCh38] Chr5:140249556 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.2164A>G (p.Thr722Ala) |
single nucleotide variant |
not specified [RCV004836731] |
Chr5:140929056 [GRCh38] Chr5:140308641 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.179G>A (p.Ser60Asn) |
single nucleotide variant |
not specified [RCV004836734] |
Chr5:140927071 [GRCh38] Chr5:140306656 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1820G>A (p.Ser607Asn) |
single nucleotide variant |
not specified [RCV004836737] |
Chr5:140928712 [GRCh38] Chr5:140308297 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.2269C>T (p.Arg757Trp) |
single nucleotide variant |
not specified [RCV004836738] |
Chr5:140929161 [GRCh38] Chr5:140308746 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2519C>T (p.Ala840Val) |
single nucleotide variant |
not specified [RCV004836741] |
Chr5:140969285 [GRCh38] Chr5:140348870 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2005T>A (p.Ser669Thr) |
single nucleotide variant |
not specified [RCV004836745] |
Chr5:140968771 [GRCh38] Chr5:140348356 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.202G>A (p.Val68Met) |
single nucleotide variant |
not specified [RCV004836733] |
Chr5:140927094 [GRCh38] Chr5:140306679 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.751G>A (p.Val251Met) |
single nucleotide variant |
not specified [RCV004836736] |
Chr5:140927643 [GRCh38] Chr5:140307228 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1570G>C (p.Asp524His) |
single nucleotide variant |
not specified [RCV004836629] |
Chr5:140883838 [GRCh38] Chr5:140263423 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1888G>A (p.Glu630Lys) |
single nucleotide variant |
not specified [RCV004836611] |
Chr5:140877360 [GRCh38] Chr5:140256945 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.1714A>C (p.Ser572Arg) |
single nucleotide variant |
not specified [RCV004836614] |
Chr5:140877186 [GRCh38] Chr5:140256771 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.235C>G (p.Leu79Val) |
single nucleotide variant |
not specified [RCV004836618] |
Chr5:140875707 [GRCh38] Chr5:140255292 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1319G>C (p.Ser440Thr) |
single nucleotide variant |
not specified [RCV004836620] |
Chr5:140883587 [GRCh38] Chr5:140263172 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.635G>A (p.Arg212His) |
single nucleotide variant |
not specified [RCV004836746] |
Chr5:140967401 [GRCh38] Chr5:140346986 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.167C>T (p.Ala56Val) |
single nucleotide variant |
not specified [RCV004836748] |
Chr5:140966933 [GRCh38] Chr5:140346518 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.215G>C (p.Gly72Ala) |
single nucleotide variant |
not specified [RCV004836604] |
Chr5:140869318 [GRCh38] Chr5:140248903 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.2222C>T (p.Ser741Phe) |
single nucleotide variant |
not specified [RCV004836606] |
Chr5:140871325 [GRCh38] Chr5:140250910 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1231C>G (p.Arg411Gly) |
single nucleotide variant |
not specified [RCV004848060] |
Chr5:140967997 [GRCh38] Chr5:140347582 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.788G>C (p.Gly263Ala) |
single nucleotide variant |
not specified [RCV004836729] |
Chr5:140927680 [GRCh38] Chr5:140307265 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1093G>T (p.Val365Leu) |
single nucleotide variant |
not specified [RCV004836743] |
Chr5:140967859 [GRCh38] Chr5:140347444 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1813A>G (p.Thr605Ala) |
single nucleotide variant |
not specified [RCV004836747] |
Chr5:140968579 [GRCh38] Chr5:140348164 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.946T>C (p.Tyr316His) |
single nucleotide variant |
not specified [RCV004836626] |
Chr5:140883214 [GRCh38] Chr5:140262799 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.151T>C (p.Ser51Pro) |
single nucleotide variant |
not specified [RCV004836730] |
Chr5:140927043 [GRCh38] Chr5:140306628 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018902.5(PCDHA11):c.1091C>T (p.Pro364Leu) |
single nucleotide variant |
not specified [RCV004836597] |
Chr5:140870194 [GRCh38] Chr5:140249779 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1659C>A (p.Asp553Glu) |
single nucleotide variant |
not specified [RCV004836750] |
Chr5:140968425 [GRCh38] Chr5:140348010 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1744C>T (p.Arg582Trp) |
single nucleotide variant |
not specified [RCV004848036] |
Chr5:140857792 [GRCh38] Chr5:140237377 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.1379C>G (p.Thr460Arg) |
single nucleotide variant |
not specified [RCV004848037] |
Chr5:140857427 [GRCh38] Chr5:140237012 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018901.4(PCDHA10):c.206G>C (p.Arg69Thr) |
single nucleotide variant |
not specified [RCV004848038] |
Chr5:140856254 [GRCh38] Chr5:140235839 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018903.4(PCDHA12):c.1853C>G (p.Ala618Gly) |
single nucleotide variant |
not specified [RCV004848039] |
Chr5:140877325 [GRCh38] Chr5:140256910 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018903.4(PCDHA12):c.2153A>G (p.Tyr718Cys) |
single nucleotide variant |
not specified [RCV004848040] |
Chr5:140877625 [GRCh38] Chr5:140257210 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1288G>C (p.Gly430Arg) |
single nucleotide variant |
not specified [RCV004848041] |
Chr5:140883556 [GRCh38] Chr5:140263141 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.814C>G (p.Leu272Val) |
single nucleotide variant |
not specified [RCV004848057] |
Chr5:140927706 [GRCh38] Chr5:140307291 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1423T>G (p.Ser475Ala) |
single nucleotide variant |
not specified [RCV004848058] |
Chr5:140968189 [GRCh38] Chr5:140347774 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2167A>G (p.Ile723Val) |
single nucleotide variant |
not specified [RCV004848059] |
Chr5:140968933 [GRCh38] Chr5:140348518 [GRCh37] Chr5:5q31.3 |
uncertain significance |