NM_015268.4(DNAJC13):c.2564A>G (p.Asn855Ser) |
single nucleotide variant |
Essential tremor [RCV000170476]|Parkinson disease 21 [RCV000170494]|Parkinson disease, late-onset [RCV000049582] |
Chr3:132477995 [GRCh38] Chr3:132196839 [GRCh37] Chr3:3q22.1 |
pathogenic|uncertain significance |
NM_015268.4(DNAJC13):c.217C>T (p.Arg73Cys) |
single nucleotide variant |
not specified [RCV004118827] |
Chr3:132447393 [GRCh38] Chr3:132166237 [GRCh37] Chr3:133648927 [NCBI36] Chr3:3q22.1 |
uncertain significance|not provided |
NM_015268.3(DNAJC13):c.1984G>A (p.Ala662Thr) |
single nucleotide variant |
Malignant melanoma [RCV000065841] |
Chr3:132466314 [GRCh38] Chr3:132185158 [GRCh37] Chr3:133667848 [NCBI36] Chr3:3q22.1 |
not provided |
NM_015268.3(DNAJC13):c.4558C>T (p.Leu1520Phe) |
single nucleotide variant |
Malignant melanoma [RCV000065842] |
Chr3:132502310 [GRCh38] Chr3:132221154 [GRCh37] Chr3:133703844 [NCBI36] Chr3:3q22.1 |
not provided |
NM_015268.4(DNAJC13):c.5450C>T (p.Ser1817Phe) |
single nucleotide variant |
not specified [RCV004273767] |
Chr3:132514635 [GRCh38] Chr3:132233479 [GRCh37] Chr3:133716169 [NCBI36] Chr3:3q22.1 |
uncertain significance|not provided |
NM_015268.4(DNAJC13):c.4199G>A (p.Arg1400Gln) |
single nucleotide variant |
not provided [RCV000999551] |
Chr3:132499168 [GRCh38] Chr3:132218012 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 |
copy number gain |
See cases [RCV000134948] |
Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 |
copy number loss |
See cases [RCV000136558] |
Chr3:129817243..143381624 [GRCh38] Chr3:129536086..143100466 [GRCh37] Chr3:131018776..144583156 [NCBI36] Chr3:3q22.1-24 |
pathogenic |
NM_015268.3(DNAJC13):c.3268-1454A>G |
single nucleotide variant |
Lung cancer [RCV000092920] |
Chr3:132486844 [GRCh38] Chr3:132205688 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6545G>A (p.Arg2182His) |
single nucleotide variant |
not provided [RCV000999552] |
Chr3:132531017 [GRCh38] Chr3:132249861 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.246T>G (p.Thr82=) |
single nucleotide variant |
not provided [RCV001655917]|not specified [RCV001580128] |
Chr3:132447422 [GRCh38] Chr3:132166266 [GRCh37] Chr3:3q22.1 |
benign |
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 |
copy number gain |
See cases [RCV000142340] |
Chr3:93800620..145695381 [GRCh38] Chr3:93519464..145413168 [GRCh37] Chr3:95002154..146895858 [NCBI36] Chr3:3q11.1-24 |
pathogenic |
GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1 |
copy number loss |
See cases [RCV000139240] |
Chr3:130401265..139005019 [GRCh38] Chr3:130120109..138723861 [GRCh37] Chr3:131602799..140206551 [NCBI36] Chr3:3q22.1-23 |
pathogenic |
GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1 |
copy number loss |
See cases [RCV000140995] |
Chr3:129817243..141425155 [GRCh38] Chr3:129536086..141143997 [GRCh37] Chr3:131018776..142626687 [NCBI36] Chr3:3q22.1-23 |
pathogenic |
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 |
copy number gain |
See cases [RCV000142010] |
Chr3:126106779..140918089 [GRCh38] Chr3:125825622..140636931 [GRCh37] Chr3:127308312..142119621 [NCBI36] Chr3:3q21.3-23 |
uncertain significance |
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 |
copy number loss |
See cases [RCV000142787] |
Chr3:127607945..133566661 [GRCh38] Chr3:127326788..133285505 [GRCh37] Chr3:128809478..134768195 [NCBI36] Chr3:3q21.3-22.1 |
likely pathogenic |
NM_015268.4(DNAJC13):c.6626-6T>C |
single nucleotide variant |
not provided [RCV000958707] |
Chr3:132538170 [GRCh38] Chr3:132257014 [GRCh37] Chr3:3q22.1 |
benign |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_015268.4(DNAJC13):c.3337A>G (p.Asn1113Asp) |
single nucleotide variant |
not specified [RCV004320832] |
Chr3:132488367 [GRCh38] Chr3:132207211 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2360C>T (p.Thr787Ile) |
single nucleotide variant |
not specified [RCV004299790] |
Chr3:132475000 [GRCh38] Chr3:132193844 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1059A>G (p.Glu353=) |
single nucleotide variant |
not provided [RCV000415845] |
Chr3:132456361 [GRCh38] Chr3:132175205 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2365G>C (p.Glu789Gln) |
single nucleotide variant |
not specified [RCV004316957] |
Chr3:132475005 [GRCh38] Chr3:132193849 [GRCh37] Chr3:3q22.1 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_015268.4(DNAJC13):c.160A>G (p.Ile54Val) |
single nucleotide variant |
not specified [RCV004325323] |
Chr3:132447336 [GRCh38] Chr3:132166180 [GRCh37] Chr3:3q22.1 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_015268.4(DNAJC13):c.1349+102C>T |
single nucleotide variant |
not provided [RCV001679066] |
Chr3:132456934 [GRCh38] Chr3:132175778 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3825+288T>C |
single nucleotide variant |
not provided [RCV001667226] |
Chr3:132492903 [GRCh38] Chr3:132211747 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2064+176T>A |
single nucleotide variant |
not provided [RCV001533867] |
Chr3:132466570 [GRCh38] Chr3:132185414 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2550-9A>T |
single nucleotide variant |
not provided [RCV001673223]|not specified [RCV001579831] |
Chr3:132477972 [GRCh38] Chr3:132477972..132477973 [GRCh38] Chr3:132196816 [GRCh37] Chr3:132196816..132196817 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.422A>T (p.Asn141Ile) |
single nucleotide variant |
not specified [RCV004285834] |
Chr3:132450732 [GRCh38] Chr3:132169576 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.730T>C (p.Ser244Pro) |
single nucleotide variant |
not specified [RCV004308515] |
Chr3:132453490 [GRCh38] Chr3:132172334 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6133G>A (p.Val2045Ile) |
single nucleotide variant |
not specified [RCV004309773] |
Chr3:132525682 [GRCh38] Chr3:132244526 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5153T>C (p.Ile1718Thr) |
single nucleotide variant |
not specified [RCV004313370] |
Chr3:132511104 [GRCh38] Chr3:132229948 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.282T>G (p.Leu94=) |
single nucleotide variant |
DNAJC13-related disorder [RCV003931222]|not provided [RCV001579983]|not specified [RCV001727912] |
Chr3:132447458 [GRCh38] Chr3:132166302 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_015268.4(DNAJC13):c.5560+4A>T |
single nucleotide variant |
DNAJC13-related disorder [RCV003983986]|not provided [RCV001685546]|not specified [RCV001580135] |
Chr3:132516500 [GRCh38] Chr3:132235344 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5486-280A>G |
single nucleotide variant |
not provided [RCV001691758] |
Chr3:132516142 [GRCh38] Chr3:132516142..132516143 [GRCh38] Chr3:132234986 [GRCh37] Chr3:132234986..132234987 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2292-108_2292-106del |
deletion |
not provided [RCV001725329] |
Chr3:132474815..132474817 [GRCh38] Chr3:132193659..132193661 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3594T>C (p.Thr1198=) |
single nucleotide variant |
not provided [RCV000949900] |
Chr3:132491022 [GRCh38] Chr3:132209866 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_015268.4(DNAJC13):c.4305C>T (p.Leu1435=) |
single nucleotide variant |
DNAJC13-related disorder [RCV004740486]|not provided [RCV000884404] |
Chr3:132499274 [GRCh38] Chr3:132218118 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_015268.4(DNAJC13):c.2550-10T>A |
single nucleotide variant |
not provided [RCV000898824] |
Chr3:132477971 [GRCh38] Chr3:132196815 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.6675G>A (p.Met2225Ile) |
single nucleotide variant |
DNAJC13-related disorder [RCV003925934]|not provided [RCV000950660] |
Chr3:132538225 [GRCh38] Chr3:132257069 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3942G>A (p.Pro1314=) |
single nucleotide variant |
not provided [RCV000881123] |
Chr3:132495088 [GRCh38] Chr3:132213932 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4546C>T (p.Arg1516Cys) |
single nucleotide variant |
DNAJC13-related disorder [RCV003928422]|not provided [RCV000966883] |
Chr3:132502298 [GRCh38] Chr3:132221142 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5385+7G>A |
single nucleotide variant |
DNAJC13-related disorder [RCV003928423]|not provided [RCV000966884] |
Chr3:132513106 [GRCh38] Chr3:132231950 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2736G>A (p.Arg912=) |
single nucleotide variant |
not provided [RCV000948268] |
Chr3:132479253 [GRCh38] Chr3:132198097 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4813A>G (p.Ile1605Val) |
single nucleotide variant |
not provided [RCV000879641] |
Chr3:132503310 [GRCh38] Chr3:132222154 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2336A>G (p.Lys779Arg) |
single nucleotide variant |
not provided [RCV000897110] |
Chr3:132474976 [GRCh38] Chr3:132193820 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.5979C>T (p.Ala1993=) |
single nucleotide variant |
not provided [RCV000958706] |
Chr3:132523632 [GRCh38] Chr3:132242476 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5855A>C (p.Asn1952Thr) |
single nucleotide variant |
DNAJC13-related disorder [RCV003920527]|not provided [RCV000881124] |
Chr3:132523168 [GRCh38] Chr3:132242012 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5983G>C (p.Val1995Leu) |
single nucleotide variant |
DNAJC13-related disorder [RCV003930827]|not provided [RCV000892553] |
Chr3:132523636 [GRCh38] Chr3:132242480 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_015268.4(DNAJC13):c.2979+3A>G |
single nucleotide variant |
DNAJC13-related disorder [RCV003932866]|not provided [RCV000903514] |
Chr3:132482333 [GRCh38] Chr3:132201177 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.932+16del |
deletion |
not provided [RCV000946763] |
Chr3:132454161 [GRCh38] Chr3:132173005 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.932+15_932+16del |
deletion |
not provided [RCV000961038] |
Chr3:132454161..132454162 [GRCh38] Chr3:132173005..132173006 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5953T>C (p.Leu1985=) |
single nucleotide variant |
not provided [RCV000900812] |
Chr3:132523606 [GRCh38] Chr3:132242450 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.5886+10A>G |
single nucleotide variant |
not provided [RCV000967834] |
Chr3:132523209 [GRCh38] Chr3:132242053 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.730T>A (p.Ser244Thr) |
single nucleotide variant |
not specified [RCV004309713] |
Chr3:132453490 [GRCh38] Chr3:132172334 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4385G>A (p.Arg1462His) |
single nucleotide variant |
not provided [RCV000960016]|not specified [RCV001727828] |
Chr3:132499777 [GRCh38] Chr3:132499777..132499778 [GRCh38] Chr3:132218621 [GRCh37] Chr3:132218621..132218622 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5934T>G (p.Leu1978=) |
single nucleotide variant |
not provided [RCV000915530] |
Chr3:132523587 [GRCh38] Chr3:132242431 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.654T>C (p.Tyr218=) |
single nucleotide variant |
not provided [RCV000938567] |
Chr3:132453414 [GRCh38] Chr3:132172258 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.2710-272C>G |
single nucleotide variant |
not provided [RCV001653200] |
Chr3:132478955 [GRCh38] Chr3:132197799 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5674-159G>C |
single nucleotide variant |
not provided [RCV001686729] |
Chr3:132522669 [GRCh38] Chr3:132241513 [GRCh37] Chr3:3q22.1 |
benign |
Single allele |
deletion |
Deafness-lymphedema-leukemia syndrome [RCV001541925] |
Chr3:127966423..136853218 [GRCh37] Chr3:3q21.3-22.3 |
pathogenic |
NM_015268.4(DNAJC13):c.2446-272C>T |
single nucleotide variant |
not provided [RCV001690361] |
Chr3:132477517 [GRCh38] Chr3:132196361 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.-13-206_-13-194del |
deletion |
not provided [RCV001616813] |
Chr3:132434332..132434344 [GRCh38] Chr3:132153176..132153188 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2980-206C>T |
single nucleotide variant |
not provided [RCV001714836] |
Chr3:132483169 [GRCh38] Chr3:132202013 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1349+103C>A |
single nucleotide variant |
not provided [RCV001637294] |
Chr3:132456935 [GRCh38] Chr3:132175779 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1892+257A>G |
single nucleotide variant |
not provided [RCV001715896] |
Chr3:132464074 [GRCh38] Chr3:132182918 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4341+42C>T |
single nucleotide variant |
not provided [RCV001715897] |
Chr3:132499352 [GRCh38] Chr3:132218196 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1449+98G>C |
single nucleotide variant |
not provided [RCV001715898] |
Chr3:132457466 [GRCh38] Chr3:132176310 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.-13-49_-13-48insAG |
insertion |
not provided [RCV001715903] |
Chr3:132434489..132434490 [GRCh38] Chr3:132153333..132153334 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3826-303A>G |
single nucleotide variant |
not provided [RCV001715904] |
Chr3:132493841 [GRCh38] Chr3:132212685 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2445+153G>T |
single nucleotide variant |
not provided [RCV001715909] |
Chr3:132475238 [GRCh38] Chr3:132194082 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3469-86T>A |
single nucleotide variant |
not provided [RCV001675537] |
Chr3:132490811 [GRCh38] Chr3:132209655 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4543C>T (p.Pro1515Ser) |
single nucleotide variant |
DNAJC13-related disorder [RCV003921243]|not provided [RCV001579431]|not specified [RCV001726601] |
Chr3:132502295 [GRCh38] Chr3:132221139 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_015268.4(DNAJC13):c.2292-109_2292-106del |
deletion |
not provided [RCV001667141] |
Chr3:132474815..132474818 [GRCh38] Chr3:132193659..132193662 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3942-152del |
deletion |
not provided [RCV001693534] |
Chr3:132494925 [GRCh38] Chr3:132213769 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.336+111G>A |
single nucleotide variant |
not provided [RCV001669069] |
Chr3:132448050 [GRCh38] Chr3:132166894 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.537+26dup |
duplication |
not provided [RCV001696547] |
Chr3:132450861..132450862 [GRCh38] Chr3:132169705..132169706 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5486-222A>C |
single nucleotide variant |
not provided [RCV001669128] |
Chr3:132516200 [GRCh38] Chr3:132235044 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.-13-140dup |
duplication |
not provided [RCV001689378] |
Chr3:132434384..132434385 [GRCh38] Chr3:132153228..132153229 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1771-96del |
deletion |
not provided [RCV001656746] |
Chr3:132463600 [GRCh38] Chr3:132182444 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2875-351T>G |
single nucleotide variant |
not provided [RCV001670428] |
Chr3:132481875 [GRCh38] Chr3:132200719 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.6625+86G>C |
single nucleotide variant |
not provided [RCV001541498] |
Chr3:132531183 [GRCh38] Chr3:132250027 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.144+209del |
deletion |
not provided [RCV001656919] |
Chr3:132446757 [GRCh38] Chr3:132165601 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5486-244G>T |
single nucleotide variant |
not provided [RCV001667786] |
Chr3:132516178 [GRCh38] Chr3:132235022 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.6240+119C>T |
single nucleotide variant |
not provided [RCV001595247] |
Chr3:132525908 [GRCh38] Chr3:132244752 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3872A>G (p.Glu1291Gly) |
single nucleotide variant |
Parkinson disease 21 [RCV000987334]|not provided [RCV000887960] |
Chr3:132494190 [GRCh38] Chr3:132213034 [GRCh37] Chr3:3q22.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_015268.4(DNAJC13):c.2292-6G>A |
single nucleotide variant |
not provided [RCV000954403] |
Chr3:132474926 [GRCh38] Chr3:132193770 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.6150T>G (p.His2050Gln) |
single nucleotide variant |
not provided [RCV000909991] |
Chr3:132525699 [GRCh38] Chr3:132244543 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.2369C>A (p.Ser790Tyr) |
single nucleotide variant |
DNAJC13-related disorder [RCV003915826]|not provided [RCV000953203] |
Chr3:132475009 [GRCh38] Chr3:132193853 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_015268.4(DNAJC13):c.6423C>T (p.Leu2141=) |
single nucleotide variant |
not provided [RCV000910828] |
Chr3:132528230 [GRCh38] Chr3:132247074 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.5578C>T (p.Leu1860=) |
single nucleotide variant |
not provided [RCV000899126] |
Chr3:132516721 [GRCh38] Chr3:132235565 [GRCh37] Chr3:3q22.1 |
likely benign |
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 |
copy number gain |
not provided [RCV002472621] |
Chr3:116620308..172042292 [GRCh37] Chr3:3q13.31-26.31 |
pathogenic |
NM_015268.4(DNAJC13):c.4417-84T>C |
single nucleotide variant |
not provided [RCV001715907] |
Chr3:132500710 [GRCh38] Chr3:132219554 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.294+167C>T |
single nucleotide variant |
not provided [RCV001715931] |
Chr3:132447637 [GRCh38] Chr3:132166481 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3267+79T>C |
single nucleotide variant |
not provided [RCV001688399] |
Chr3:132484751 [GRCh38] Chr3:132203595 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4020+186C>T |
single nucleotide variant |
not provided [RCV001618969] |
Chr3:132495352 [GRCh38] Chr3:132214196 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2291+58T>C |
single nucleotide variant |
not provided [RCV001672216] |
Chr3:132473285 [GRCh38] Chr3:132192129 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4885-18G>A |
single nucleotide variant |
not provided [RCV001713059]|not specified [RCV001579874] |
Chr3:132505284 [GRCh38] Chr3:132224128 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.-13-266G>C |
single nucleotide variant |
not provided [RCV001678206] |
Chr3:132434272 [GRCh38] Chr3:132153116 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1770+127T>G |
single nucleotide variant |
not provided [RCV001686093] |
Chr3:132462650 [GRCh38] Chr3:132181494 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1558-207_1558-199del |
deletion |
not provided [RCV001621550] |
Chr3:132460843..132460851 [GRCh38] Chr3:132179687..132179695 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.69-141A>T |
single nucleotide variant |
not provided [RCV001614502] |
Chr3:132446334 [GRCh38] Chr3:132446334..132446335 [GRCh38] Chr3:132165178 [GRCh37] Chr3:132165178..132165179 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2710-14A>G |
single nucleotide variant |
not provided [RCV001670584] |
Chr3:132479213 [GRCh38] Chr3:132198057 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5674-162C>T |
single nucleotide variant |
not provided [RCV001656554] |
Chr3:132522666 [GRCh38] Chr3:132241510 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5673+330G>A |
single nucleotide variant |
not provided [RCV001656561] |
Chr3:132517146 [GRCh38] Chr3:132235990 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5485+158G>A |
single nucleotide variant |
not provided [RCV001676723] |
Chr3:132514828 [GRCh38] Chr3:132233672 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.336+232C>T |
single nucleotide variant |
not provided [RCV001715899] |
Chr3:132448171 [GRCh38] Chr3:132167015 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4885-163T>C |
single nucleotide variant |
not provided [RCV001598924] |
Chr3:132505139 [GRCh38] Chr3:132223983 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.*293A>G |
single nucleotide variant |
not provided [RCV001674385] |
Chr3:132538575 [GRCh38] Chr3:132538575..132538576 [GRCh38] Chr3:132257419 [GRCh37] Chr3:132257419..132257420 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5116-203A>G |
single nucleotide variant |
not provided [RCV001617816] |
Chr3:132510864 [GRCh38] Chr3:132229708 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2292-107C>T |
single nucleotide variant |
not provided [RCV001612003] |
Chr3:132474825 [GRCh38] Chr3:132193669 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.538-34A>T |
single nucleotide variant |
not provided [RCV001708511] |
Chr3:132453264 [GRCh38] Chr3:132172108 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5673+134C>G |
single nucleotide variant |
not provided [RCV001648020] |
Chr3:132516950 [GRCh38] Chr3:132235794 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2292-316dup |
duplication |
not provided [RCV001693383] |
Chr3:132474614..132474615 [GRCh38] Chr3:132193458..132193459 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.6061-48G>A |
single nucleotide variant |
not provided [RCV001652155] |
Chr3:132525562 [GRCh38] Chr3:132244406 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1557+194T>C |
single nucleotide variant |
not provided [RCV001666067] |
Chr3:132460551 [GRCh38] Chr3:132179395 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2292-107_2292-106del |
deletion |
not provided [RCV001680358] |
Chr3:132474815..132474816 [GRCh38] Chr3:132193659..132193660 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2292-106del |
deletion |
not provided [RCV001641796] |
Chr3:132474815 [GRCh38] Chr3:132193659 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4387G>T (p.Ala1463Ser) |
single nucleotide variant |
not provided [RCV001619990]|not specified [RCV001579441] |
Chr3:132499779 [GRCh38] Chr3:132218623 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2292-89_2292-88dup |
duplication |
not provided [RCV001725328] |
Chr3:132474826..132474827 [GRCh38] Chr3:132193670..132193671 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5293+22C>T |
single nucleotide variant |
not provided [RCV001692891] |
Chr3:132511266 [GRCh38] Chr3:132230110 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2627C>G (p.Ala876Gly) |
single nucleotide variant |
not provided [RCV000999550] |
Chr3:132478058 [GRCh38] Chr3:132196902 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4416+231T>C |
single nucleotide variant |
not provided [RCV001609520] |
Chr3:132500039 [GRCh38] Chr3:132218883 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.68+150A>G |
single nucleotide variant |
not provided [RCV001641741] |
Chr3:132434768 [GRCh38] Chr3:132153612 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5386-139T>A |
single nucleotide variant |
not provided [RCV001536267] |
Chr3:132514432 [GRCh38] Chr3:132233276 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4157-267G>A |
single nucleotide variant |
not provided [RCV001540947] |
Chr3:132498859 [GRCh38] Chr3:132217703 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.744+47C>T |
single nucleotide variant |
not provided [RCV001541617] |
Chr3:132453551 [GRCh38] Chr3:132172395 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4342-135dup |
duplication |
not provided [RCV001617452] |
Chr3:132499597..132499598 [GRCh38] Chr3:132218441..132218442 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2549+25G>A |
single nucleotide variant |
not provided [RCV001617587] |
Chr3:132477917 [GRCh38] Chr3:132196761 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.6061-141C>T |
single nucleotide variant |
not provided [RCV001667195] |
Chr3:132525469 [GRCh38] Chr3:132244313 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4157-174G>A |
single nucleotide variant |
not provided [RCV001684822] |
Chr3:132498952 [GRCh38] Chr3:132217796 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.537+14T>A |
single nucleotide variant |
not provided [RCV001684578] |
Chr3:132450861 [GRCh38] Chr3:132169705 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5485+198G>C |
single nucleotide variant |
not provided [RCV001653306] |
Chr3:132514868 [GRCh38] Chr3:132233712 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1770+285T>C |
single nucleotide variant |
not provided [RCV001687517] |
Chr3:132462808 [GRCh38] Chr3:132181652 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3422+258A>G |
single nucleotide variant |
not provided [RCV001617593] |
Chr3:132488710 [GRCh38] Chr3:132207554 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1557+34T>C |
single nucleotide variant |
not provided [RCV001641085] |
Chr3:132460391 [GRCh38] Chr3:132179235 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.-13-317dup |
duplication |
not provided [RCV001709974] |
Chr3:132434209..132434210 [GRCh38] Chr3:132153053..132153054 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.932+280G>A |
single nucleotide variant |
not provided [RCV001671972] |
Chr3:132454437 [GRCh38] Chr3:132173281 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3267+167C>T |
single nucleotide variant |
not provided [RCV001715915] |
Chr3:132484839 [GRCh38] Chr3:132203683 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3182+28T>A |
single nucleotide variant |
not provided [RCV001649875] |
Chr3:132483605 [GRCh38] Chr3:132202449 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.6060+85C>T |
single nucleotide variant |
not provided [RCV001708927] |
Chr3:132523798 [GRCh38] Chr3:132242642 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3826-320dup |
duplication |
not provided [RCV001619159] |
Chr3:132493821..132493822 [GRCh38] Chr3:132212665..132212666 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1036C>G (p.Leu346Val) |
single nucleotide variant |
Vascular dementia [RCV002051764] |
Chr3:132456338 [GRCh38] Chr3:132175182 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NC_000003.11:g.(?_120365818)_(133465047_?)del |
deletion |
Alkaptonuria [RCV002035459] |
Chr3:120365818..133465047 [GRCh37] Chr3:3q13.33-22.1 |
pathogenic |
NM_015268.4(DNAJC13):c.857G>A (p.Cys286Tyr) |
single nucleotide variant |
not specified [RCV004110525] |
Chr3:132454082 [GRCh38] Chr3:132172926 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5137A>G (p.Ser1713Gly) |
single nucleotide variant |
not specified [RCV004230963] |
Chr3:132511088 [GRCh38] Chr3:132229932 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6106A>G (p.Ser2036Gly) |
single nucleotide variant |
not specified [RCV004139308] |
Chr3:132525655 [GRCh38] Chr3:132244499 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5152A>G (p.Ile1718Val) |
single nucleotide variant |
not specified [RCV004197900] |
Chr3:132511103 [GRCh38] Chr3:132229947 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6638C>A (p.Ala2213Asp) |
single nucleotide variant |
not specified [RCV004145450] |
Chr3:132538188 [GRCh38] Chr3:132257032 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2062A>G (p.Met688Val) |
single nucleotide variant |
not provided [RCV004696247]|not specified [RCV004229903] |
Chr3:132466392 [GRCh38] Chr3:132185236 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4853C>T (p.Ala1618Val) |
single nucleotide variant |
not specified [RCV004202686] |
Chr3:132503350 [GRCh38] Chr3:132222194 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3853G>T (p.Ala1285Ser) |
single nucleotide variant |
not specified [RCV004128001] |
Chr3:132494171 [GRCh38] Chr3:132213015 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2479A>G (p.Ile827Val) |
single nucleotide variant |
not specified [RCV004141843] |
Chr3:132477822 [GRCh38] Chr3:132196666 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5395A>G (p.Ile1799Val) |
single nucleotide variant |
not specified [RCV004134839] |
Chr3:132514580 [GRCh38] Chr3:132233424 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.289G>A (p.Ala97Thr) |
single nucleotide variant |
not specified [RCV004202360] |
Chr3:132447465 [GRCh38] Chr3:132166309 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3002G>C (p.Gly1001Ala) |
single nucleotide variant |
not specified [RCV004210345] |
Chr3:132483397 [GRCh38] Chr3:132202241 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2784G>C (p.Lys928Asn) |
single nucleotide variant |
not specified [RCV004145836] |
Chr3:132480380 [GRCh38] Chr3:132199224 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5540T>C (p.Ile1847Thr) |
single nucleotide variant |
not specified [RCV004106938] |
Chr3:132516476 [GRCh38] Chr3:132235320 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1831C>A (p.Pro611Thr) |
single nucleotide variant |
not specified [RCV004231399] |
Chr3:132463756 [GRCh38] Chr3:132182600 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5796T>G (p.Asp1932Glu) |
single nucleotide variant |
not specified [RCV004189401] |
Chr3:132522950 [GRCh38] Chr3:132241794 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1226C>G (p.Thr409Arg) |
single nucleotide variant |
not specified [RCV004156011] |
Chr3:132456709 [GRCh38] Chr3:132175553 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.217C>G (p.Arg73Gly) |
single nucleotide variant |
not specified [RCV004107092] |
Chr3:132447393 [GRCh38] Chr3:132166237 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.101C>T (p.Ala34Val) |
single nucleotide variant |
not specified [RCV004130852] |
Chr3:132446507 [GRCh38] Chr3:132165351 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.99T>A (p.His33Gln) |
single nucleotide variant |
not specified [RCV004178636] |
Chr3:132446505 [GRCh38] Chr3:132165349 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3587T>A (p.Phe1196Tyr) |
single nucleotide variant |
not specified [RCV004099366] |
Chr3:132491015 [GRCh38] Chr3:132209859 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1361G>A (p.Arg454His) |
single nucleotide variant |
not specified [RCV004074956] |
Chr3:132457280 [GRCh38] Chr3:132176124 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6163A>C (p.Ile2055Leu) |
single nucleotide variant |
DNAJC13-related disorder [RCV003420475]|not specified [RCV004177845] |
Chr3:132525712 [GRCh38] Chr3:132244556 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1268C>T (p.Ala423Val) |
single nucleotide variant |
not specified [RCV004175799] |
Chr3:132456751 [GRCh38] Chr3:132175595 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3479A>C (p.Gln1160Pro) |
single nucleotide variant |
not specified [RCV004103356] |
Chr3:132490907 [GRCh38] Chr3:132209751 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6502C>G (p.Arg2168Gly) |
single nucleotide variant |
not specified [RCV004171796] |
Chr3:132528309 [GRCh38] Chr3:132247153 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.152A>G (p.Tyr51Cys) |
single nucleotide variant |
not specified [RCV004085012] |
Chr3:132447328 [GRCh38] Chr3:132166172 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5240C>T (p.Pro1747Leu) |
single nucleotide variant |
not specified [RCV004076911] |
Chr3:132511191 [GRCh38] Chr3:132230035 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2123C>T (p.Ala708Val) |
single nucleotide variant |
not specified [RCV004252189] |
Chr3:132467228 [GRCh38] Chr3:132186072 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1952T>G (p.Leu651Trp) |
single nucleotide variant |
not specified [RCV004268904] |
Chr3:132466054 [GRCh38] Chr3:132184898 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3206G>A (p.Arg1069Gln) |
single nucleotide variant |
not specified [RCV004267898] |
Chr3:132484611 [GRCh38] Chr3:132203455 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4961A>C (p.Glu1654Ala) |
single nucleotide variant |
not specified [RCV004349117] |
Chr3:132505378 [GRCh38] Chr3:132224222 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4599G>C (p.Trp1533Cys) |
single nucleotide variant |
not specified [RCV004351076] |
Chr3:132502351 [GRCh38] Chr3:132221195 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.829C>T (p.Pro277Ser) |
single nucleotide variant |
not specified [RCV004360043] |
Chr3:132453683 [GRCh38] Chr3:132172527 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5309G>A (p.Cys1770Tyr) |
single nucleotide variant |
not specified [RCV004350817] |
Chr3:132513023 [GRCh38] Chr3:132231867 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2579G>A (p.Arg860His) |
single nucleotide variant |
not specified [RCV004354594] |
Chr3:132478010 [GRCh38] Chr3:132196854 [GRCh37] Chr3:3q22.1 |
uncertain significance |
GRCh37/hg19 3q22.1(chr3:132099645-132381259)x3 |
copy number gain |
not provided [RCV003484145] |
Chr3:132099645..132381259 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6169G>T (p.Ala2057Ser) |
single nucleotide variant |
not provided [RCV003427391] |
Chr3:132525718 [GRCh38] Chr3:132244562 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.5071A>G (p.Ile1691Val) |
single nucleotide variant |
DNAJC13-related disorder [RCV003397259] |
Chr3:132507309 [GRCh38] Chr3:132226153 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6111A>G (p.Ala2037=) |
single nucleotide variant |
not provided [RCV003427390] |
Chr3:132525660 [GRCh38] Chr3:132244504 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.98A>G (p.His33Arg) |
single nucleotide variant |
DNAJC13-related disorder [RCV003397623] |
Chr3:132446504 [GRCh38] Chr3:132165348 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2773-4C>T |
single nucleotide variant |
DNAJC13-related disorder [RCV003949469] |
Chr3:132480365 [GRCh38] Chr3:132199209 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.4262C>T (p.Ala1421Val) |
single nucleotide variant |
DNAJC13-related disorder [RCV003972257] |
Chr3:132499231 [GRCh38] Chr3:132218075 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1080G>A (p.Arg360=) |
single nucleotide variant |
DNAJC13-related disorder [RCV003961940] |
Chr3:132456382 [GRCh38] Chr3:132175226 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.5349T>C (p.Val1783=) |
single nucleotide variant |
DNAJC13-related disorder [RCV003944707] |
Chr3:132513063 [GRCh38] Chr3:132231907 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.5646G>C (p.Met1882Ile) |
single nucleotide variant |
DNAJC13-related disorder [RCV003936887] |
Chr3:132516789 [GRCh38] Chr3:132235633 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.4547G>A (p.Arg1516His) |
single nucleotide variant |
DNAJC13-related disorder [RCV003931377]|not provided [RCV004598288] |
Chr3:132502299 [GRCh38] Chr3:132221143 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5983G>A (p.Val1995Ile) |
single nucleotide variant |
DNAJC13-related disorder [RCV003904736] |
Chr3:132523636 [GRCh38] Chr3:132242480 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.873A>G (p.Pro291=) |
single nucleotide variant |
DNAJC13-related disorder [RCV003911653] |
Chr3:132454098 [GRCh38] Chr3:132172942 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.1173A>T (p.Thr391=) |
single nucleotide variant |
DNAJC13-related disorder [RCV003934349] |
Chr3:132456574 [GRCh38] Chr3:132175418 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.5202G>A (p.Ala1734=) |
single nucleotide variant |
DNAJC13-related disorder [RCV003981454] |
Chr3:132511153 [GRCh38] Chr3:132229997 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.3585A>G (p.Glu1195=) |
single nucleotide variant |
DNAJC13-related disorder [RCV003946828] |
Chr3:132491013 [GRCh38] Chr3:132209857 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.1042A>G (p.Met348Val) |
single nucleotide variant |
not specified [RCV004379337] |
Chr3:132456344 [GRCh38] Chr3:132175188 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.718G>A (p.Val240Ile) |
single nucleotide variant |
not specified [RCV004379360] |
Chr3:132453478 [GRCh38] Chr3:132172322 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4375G>A (p.Val1459Ile) |
single nucleotide variant |
not specified [RCV004379348] |
Chr3:132499767 [GRCh38] Chr3:132218611 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.325A>G (p.Ile109Val) |
single nucleotide variant |
not specified [RCV004379343] |
Chr3:132447928 [GRCh38] Chr3:132166772 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.914A>G (p.Lys305Arg) |
single nucleotide variant |
not specified [RCV004379362] |
Chr3:132454139 [GRCh38] Chr3:132172983 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.788T>C (p.Val263Ala) |
single nucleotide variant |
not specified [RCV004379361] |
Chr3:132453642 [GRCh38] Chr3:132172486 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6218T>C (p.Ile2073Thr) |
single nucleotide variant |
not specified [RCV004379357] |
Chr3:132525767 [GRCh38] Chr3:132244611 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.-13-249C>G |
single nucleotide variant |
not provided [RCV001668089] |
Chr3:132434289 [GRCh38] Chr3:132153133 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1558-243C>T |
single nucleotide variant |
not provided [RCV001690303] |
Chr3:132460807 [GRCh38] Chr3:132179651 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.108T>C (p.Thr36=) |
single nucleotide variant |
not provided [RCV000923837] |
Chr3:132446514 [GRCh38] Chr3:132165358 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.1450-9dup |
duplication |
not provided [RCV000946764] |
Chr3:132460240..132460241 [GRCh38] Chr3:132179084..132179085 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2550-6del |
deletion |
not provided [RCV000908777] |
Chr3:132477972 [GRCh38] Chr3:132196816 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2517T>C (p.Asp839=) |
single nucleotide variant |
not provided [RCV000893380] |
Chr3:132477860 [GRCh38] Chr3:132196704 [GRCh37] Chr3:3q22.1 |
likely benign |
NC_000003.12:g.(?_132465995)_(132722355_?)dup |
duplication |
Nephronophthisis [RCV001032225] |
Chr3:132184839..132441199 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3651C>T (p.Ala1217=) |
single nucleotide variant |
DNAJC13-related disorder [RCV003976017]|not provided [RCV001695857] |
Chr3:132492441 [GRCh38] Chr3:132211285 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1449+179C>T |
single nucleotide variant |
not provided [RCV001656977] |
Chr3:132457547 [GRCh38] Chr3:132176391 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.1449+45C>G |
single nucleotide variant |
not provided [RCV001540144] |
Chr3:132457413 [GRCh38] Chr3:132176257 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4999-8_4999-7del |
deletion |
DNAJC13-related disorder [RCV003913032]|not provided [RCV000912525] |
Chr3:132507227..132507228 [GRCh38] Chr3:132226071..132226072 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.2445+72T>A |
single nucleotide variant |
not provided [RCV001674514] |
Chr3:132475157 [GRCh38] Chr3:132194001 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5486-189C>T |
single nucleotide variant |
not provided [RCV001639683] |
Chr3:132516233 [GRCh38] Chr3:132235077 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.145-160A>G |
single nucleotide variant |
not provided [RCV001657672] |
Chr3:132447161 [GRCh38] Chr3:132166005 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2208+30G>A |
single nucleotide variant |
not provided [RCV001718443] |
Chr3:132467343 [GRCh38] Chr3:132186187 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.933-320A>G |
single nucleotide variant |
not provided [RCV001658451] |
Chr3:132455915 [GRCh38] Chr3:132174759 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2292-277del |
deletion |
not provided [RCV001693337] |
Chr3:132474649 [GRCh38] Chr3:132193493 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4156+264G>A |
single nucleotide variant |
not provided [RCV001648135] |
Chr3:132496927 [GRCh38] Chr3:132215771 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4537-41del |
deletion |
not provided [RCV001694612] |
Chr3:132502233 [GRCh38] Chr3:132221077 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) |
single nucleotide variant |
not provided [RCV001579691]|not specified [RCV001726604] |
Chr3:132507256 [GRCh38] Chr3:132507256..132507257 [GRCh38] Chr3:132226100 [GRCh37] Chr3:132226100..132226101 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_015268.4(DNAJC13):c.6240+120G>A |
single nucleotide variant |
not provided [RCV001666364] |
Chr3:132525909 [GRCh38] Chr3:132244753 [GRCh37] Chr3:3q22.1 |
benign |
GRCh37/hg19 3q22.1(chr3:131507971-132143591)x3 |
copy number gain |
Intellectual disability [RCV001250258] |
Chr3:131507971..132143591 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4416+172T>C |
single nucleotide variant |
not provided [RCV001536705] |
Chr3:132499980 [GRCh38] Chr3:132218824 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.4157-13T>G |
single nucleotide variant |
not provided [RCV001579813]|not specified [RCV001727910] |
Chr3:132499113 [GRCh38] Chr3:132217957 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_015268.4(DNAJC13):c.2529A>C (p.Glu843Asp) |
single nucleotide variant |
not provided [RCV001326863] |
Chr3:132477872 [GRCh38] Chr3:132196716 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2292-106C>T |
single nucleotide variant |
not provided [RCV001617135] |
Chr3:132474826 [GRCh38] Chr3:132193670 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2710-76T>G |
single nucleotide variant |
not provided [RCV001673987] |
Chr3:132479151 [GRCh38] Chr3:132197995 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.2772+23C>T |
single nucleotide variant |
not provided [RCV001647938] |
Chr3:132479312 [GRCh38] Chr3:132198156 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.69-264T>A |
single nucleotide variant |
not provided [RCV001674986] |
Chr3:132446211 [GRCh38] Chr3:132165055 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3422+72T>C |
single nucleotide variant |
not provided [RCV001714773] |
Chr3:132488524 [GRCh38] Chr3:132207368 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5486-219A>G |
single nucleotide variant |
not provided [RCV001616913] |
Chr3:132516203 [GRCh38] Chr3:132235047 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5684C>T (p.Thr1895Met) |
single nucleotide variant |
not provided [RCV001725901]|not specified [RCV002246465] |
Chr3:132522838 [GRCh38] Chr3:132241682 [GRCh37] Chr3:3q22.1 |
likely benign|uncertain significance |
NM_015268.4(DNAJC13):c.5007T>G (p.Cys1669Trp) |
single nucleotide variant |
not specified [RCV004311927] |
Chr3:132507245 [GRCh38] Chr3:132226089 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3761A>G (p.Asn1254Ser) |
single nucleotide variant |
not specified [RCV004292163] |
Chr3:132492551 [GRCh38] Chr3:132211395 [GRCh37] Chr3:3q22.1 |
uncertain significance |
GRCh37/hg19 3q22.1(chr3:132080316-132705445)x3 |
copy number gain |
not provided [RCV002474722] |
Chr3:132080316..132705445 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5312T>C (p.Ile1771Thr) |
single nucleotide variant |
not specified [RCV004208301] |
Chr3:132513026 [GRCh38] Chr3:132231870 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.784T>G (p.Leu262Val) |
single nucleotide variant |
not specified [RCV004122799] |
Chr3:132453638 [GRCh38] Chr3:132172482 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.20A>G (p.Asn7Ser) |
single nucleotide variant |
not specified [RCV004210088] |
Chr3:132434570 [GRCh38] Chr3:132153414 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4792G>A (p.Ala1598Thr) |
single nucleotide variant |
not specified [RCV004083147] |
Chr3:132503289 [GRCh38] Chr3:132222133 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3136C>G (p.Leu1046Val) |
single nucleotide variant |
not specified [RCV004218216] |
Chr3:132483531 [GRCh38] Chr3:132202375 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4636T>C (p.Tyr1546His) |
single nucleotide variant |
not specified [RCV004148793] |
Chr3:132502388 [GRCh38] Chr3:132221232 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.2008G>A (p.Val670Ile) |
single nucleotide variant |
not specified [RCV004103370] |
Chr3:132466338 [GRCh38] Chr3:132185182 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2081T>A (p.Phe694Tyr) |
single nucleotide variant |
not specified [RCV004120620] |
Chr3:132467186 [GRCh38] Chr3:132186030 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3919A>G (p.Asn1307Asp) |
single nucleotide variant |
not specified [RCV004098611] |
Chr3:132494237 [GRCh38] Chr3:132213081 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5457A>T (p.Leu1819Phe) |
single nucleotide variant |
not specified [RCV004322809] |
Chr3:132514642 [GRCh38] Chr3:132233486 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3484A>G (p.Ile1162Val) |
single nucleotide variant |
not provided [RCV004792139] |
Chr3:132490912 [GRCh38] Chr3:132209756 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1255G>A (p.Val419Ile) |
single nucleotide variant |
not provided [RCV004792138] |
Chr3:132456738 [GRCh38] Chr3:132175582 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5767C>G (p.His1923Asp) |
single nucleotide variant |
not specified [RCV004271712] |
Chr3:132522921 [GRCh38] Chr3:132241765 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6181A>T (p.Arg2061Trp) |
single nucleotide variant |
not specified [RCV004253200] |
Chr3:132525730 [GRCh38] Chr3:132244574 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2498G>A (p.Arg833Lys) |
single nucleotide variant |
not provided [RCV003327126] |
Chr3:132477841 [GRCh38] Chr3:132196685 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4414C>A (p.Gln1472Lys) |
single nucleotide variant |
not specified [RCV004338072] |
Chr3:132499806 [GRCh38] Chr3:132218650 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2940C>T (p.Asn980=) |
single nucleotide variant |
not provided [RCV003427388] |
Chr3:132482291 [GRCh38] Chr3:132201135 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.197C>T (p.Thr66Met) |
single nucleotide variant |
DNAJC13-related disorder [RCV003408712] |
Chr3:132447373 [GRCh38] Chr3:132166217 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5081G>A (p.Arg1694Lys) |
single nucleotide variant |
not provided [RCV003427389] |
Chr3:132507319 [GRCh38] Chr3:132226163 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2708G>A (p.Arg903Lys) |
single nucleotide variant |
DNAJC13-related disorder [RCV003929133]|not provided [RCV003427387] |
Chr3:132478139 [GRCh38] Chr3:132196983 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_015268.4(DNAJC13):c.6509T>G (p.Leu2170Trp) |
single nucleotide variant |
DNAJC13-related disorder [RCV003919188]|not provided [RCV003427392] |
Chr3:132528316 [GRCh38] Chr3:132247160 [GRCh37] Chr3:3q22.1 |
benign|likely benign |
NM_015268.4(DNAJC13):c.6240+4T>C |
single nucleotide variant |
not provided [RCV003885879] |
Chr3:132525793 [GRCh38] Chr3:132244637 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.2550-10dup |
duplication |
DNAJC13-related disorder [RCV003982319] |
Chr3:132477961..132477962 [GRCh38] Chr3:132196805..132196806 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.715G>T (p.Val239Leu) |
single nucleotide variant |
not specified [RCV004379359] |
Chr3:132453475 [GRCh38] Chr3:132172319 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6458C>T (p.Ala2153Val) |
single nucleotide variant |
not specified [RCV004379358] |
Chr3:132528265 [GRCh38] Chr3:132247109 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5722A>G (p.Met1908Val) |
single nucleotide variant |
not specified [RCV004379356] |
Chr3:132522876 [GRCh38] Chr3:132241720 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.472G>A (p.Gly158Arg) |
single nucleotide variant |
not specified [RCV004379353] |
Chr3:132450782 [GRCh38] Chr3:132169626 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4013A>G (p.Glu1338Gly) |
single nucleotide variant |
not specified [RCV004379346] |
Chr3:132495159 [GRCh38] Chr3:132214003 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1022A>T (p.Gln341Leu) |
single nucleotide variant |
not specified [RCV004379336] |
Chr3:132456324 [GRCh38] Chr3:132175168 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1264A>G (p.Asn422Asp) |
single nucleotide variant |
not specified [RCV004379338] |
Chr3:132456747 [GRCh38] Chr3:132175591 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.536T>C (p.Leu179Ser) |
single nucleotide variant |
not specified [RCV004379354] |
Chr3:132450846 [GRCh38] Chr3:132169690 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.467T>C (p.Ile156Thr) |
single nucleotide variant |
not specified [RCV004379352] |
Chr3:132450777 [GRCh38] Chr3:132169621 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4516C>T (p.Arg1506Trp) |
single nucleotide variant |
not specified [RCV004379350] |
Chr3:132500893 [GRCh38] Chr3:132219737 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4267A>G (p.Thr1423Ala) |
single nucleotide variant |
not specified [RCV004379347] |
Chr3:132499236 [GRCh38] Chr3:132218080 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.259A>G (p.Thr87Ala) |
single nucleotide variant |
not specified [RCV004379341] |
Chr3:132447435 [GRCh38] Chr3:132166279 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.460A>G (p.Arg154Gly) |
single nucleotide variant |
not specified [RCV004379351] |
Chr3:132450770 [GRCh38] Chr3:132169614 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.394G>T (p.Val132Leu) |
single nucleotide variant |
not specified [RCV004379345] |
Chr3:132450704 [GRCh38] Chr3:132169548 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3498T>A (p.Ser1166Arg) |
single nucleotide variant |
not specified [RCV004379344] |
Chr3:132490926 [GRCh38] Chr3:132209770 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2711G>A (p.Cys904Tyr) |
single nucleotide variant |
not specified [RCV004379342] |
Chr3:132479228 [GRCh38] Chr3:132198072 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4514G>C (p.Cys1505Ser) |
single nucleotide variant |
not specified [RCV004379349] |
Chr3:132500891 [GRCh38] Chr3:132219735 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5500C>G (p.Leu1834Val) |
single nucleotide variant |
not provided [RCV004790657]|not specified [RCV004379355] |
Chr3:132516436 [GRCh38] Chr3:132235280 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2294T>C (p.Phe765Ser) |
single nucleotide variant |
not specified [RCV004379340] |
Chr3:132474934 [GRCh38] Chr3:132193778 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1270G>A (p.Glu424Lys) |
single nucleotide variant |
not specified [RCV004379339] |
Chr3:132456753 [GRCh38] Chr3:132175597 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1376T>C (p.Val459Ala) |
single nucleotide variant |
not specified [RCV004622178] |
Chr3:132457295 [GRCh38] Chr3:132176139 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.511A>G (p.Ile171Val) |
single nucleotide variant |
not specified [RCV004622184] |
Chr3:132450821 [GRCh38] Chr3:132169665 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4900A>G (p.Asn1634Asp) |
single nucleotide variant |
not specified [RCV004622192] |
Chr3:132505317 [GRCh38] Chr3:132224161 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5908G>A (p.Val1970Met) |
single nucleotide variant |
not specified [RCV004622186] |
Chr3:132523561 [GRCh38] Chr3:132242405 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6109G>A (p.Ala2037Thr) |
single nucleotide variant |
not specified [RCV004622188] |
Chr3:132525658 [GRCh38] Chr3:132244502 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5003A>T (p.Asp1668Val) |
single nucleotide variant |
not specified [RCV004622189] |
Chr3:132507241 [GRCh38] Chr3:132226085 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3125A>G (p.Asp1042Gly) |
single nucleotide variant |
not specified [RCV004622191] |
Chr3:132483520 [GRCh38] Chr3:132202364 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1345C>G (p.Pro449Ala) |
single nucleotide variant |
not specified [RCV004622180] |
Chr3:132456828 [GRCh38] Chr3:132175672 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2922G>T (p.Lys974Asn) |
single nucleotide variant |
not specified [RCV004622181] |
Chr3:132482273 [GRCh38] Chr3:132201117 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2237G>A (p.Arg746Gln) |
single nucleotide variant |
not specified [RCV004622190] |
Chr3:132473173 [GRCh38] Chr3:132192017 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2762T>C (p.Ile921Thr) |
single nucleotide variant |
not specified [RCV004622195] |
Chr3:132479279 [GRCh38] Chr3:132198123 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.664C>T (p.Arg222Cys) |
single nucleotide variant |
not specified [RCV004624184] |
Chr3:132453424 [GRCh38] Chr3:132172268 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2172G>A (p.Met724Ile) |
single nucleotide variant |
not specified [RCV004622183] |
Chr3:132467277 [GRCh38] Chr3:132186121 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6137C>T (p.Pro2046Leu) |
single nucleotide variant |
not specified [RCV004622185] |
Chr3:132525686 [GRCh38] Chr3:132244530 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4549G>T (p.Val1517Leu) |
single nucleotide variant |
not specified [RCV004622198] |
Chr3:132502301 [GRCh38] Chr3:132221145 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6712G>C (p.Asp2238His) |
single nucleotide variant |
not specified [RCV004624182] |
Chr3:132538262 [GRCh38] Chr3:132257106 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3067A>G (p.Ile1023Val) |
single nucleotide variant |
not specified [RCV004624183] |
Chr3:132483462 [GRCh38] Chr3:132202306 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3205C>T (p.Arg1069Trp) |
single nucleotide variant |
not specified [RCV004624185] |
Chr3:132484610 [GRCh38] Chr3:132203454 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.*10G>A |
single nucleotide variant |
DNAJC13-related disorder [RCV004739744] |
Chr3:132538292 [GRCh38] Chr3:132257136 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.5516C>T (p.Ala1839Val) |
single nucleotide variant |
DNAJC13-related disorder [RCV004740218] |
Chr3:132516452 [GRCh38] Chr3:132235296 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2021A>C (p.Asp674Ala) |
single nucleotide variant |
DNAJC13-related disorder [RCV004739075] |
Chr3:132466351 [GRCh38] Chr3:132185195 [GRCh37] Chr3:3q22.1 |
likely benign |
NM_015268.4(DNAJC13):c.745-5dup |
duplication |
DNAJC13-related disorder [RCV004739236] |
Chr3:132453588..132453589 [GRCh38] Chr3:132172432..132172433 [GRCh37] Chr3:3q22.1 |
benign |
NM_015268.4(DNAJC13):c.3248G>C (p.Cys1083Ser) |
single nucleotide variant |
DNAJC13-related disorder [RCV004728232] |
Chr3:132484653 [GRCh38] Chr3:132203497 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.548C>T (p.Ala183Val) |
single nucleotide variant |
DNAJC13-related disorder [RCV004739769] |
Chr3:132453308 [GRCh38] Chr3:132172152 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4622C>G (p.Ala1541Gly) |
single nucleotide variant |
not specified [RCV004918079] |
Chr3:132502374 [GRCh38] Chr3:132221218 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4064C>G (p.Thr1355Ser) |
single nucleotide variant |
not specified [RCV004918083] |
Chr3:132496571 [GRCh38] Chr3:132215415 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.604A>C (p.Ile202Leu) |
single nucleotide variant |
not specified [RCV004918081] |
Chr3:132453364 [GRCh38] Chr3:132172208 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2306A>G (p.His769Arg) |
single nucleotide variant |
not specified [RCV004918082] |
Chr3:132474946 [GRCh38] Chr3:132193790 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.794G>A (p.Arg265His) |
single nucleotide variant |
not specified [RCV004918080] |
Chr3:132453648 [GRCh38] Chr3:132172492 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3398G>A (p.Gly1133Asp) |
single nucleotide variant |
not specified [RCV004909557] |
Chr3:132488428 [GRCh38] Chr3:132207272 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.2509G>A (p.Glu837Lys) |
single nucleotide variant |
not specified [RCV004909562] |
Chr3:132477852 [GRCh38] Chr3:132196696 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3676C>G (p.Leu1226Val) |
single nucleotide variant |
not specified [RCV004909565] |
Chr3:132492466 [GRCh38] Chr3:132211310 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5177A>G (p.His1726Arg) |
single nucleotide variant |
not specified [RCV004909567] |
Chr3:132511128 [GRCh38] Chr3:132229972 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6670G>C (p.Val2224Leu) |
single nucleotide variant |
not specified [RCV004909568] |
Chr3:132538220 [GRCh38] Chr3:132257064 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1271A>T (p.Glu424Val) |
single nucleotide variant |
not specified [RCV004909566] |
Chr3:132456754 [GRCh38] Chr3:132175598 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4106T>C (p.Ile1369Thr) |
single nucleotide variant |
not specified [RCV004909569] |
Chr3:132496613 [GRCh38] Chr3:132215457 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.6671T>A (p.Val2224Asp) |
single nucleotide variant |
not specified [RCV004909556] |
Chr3:132538221 [GRCh38] Chr3:132257065 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3137T>G (p.Leu1046Arg) |
single nucleotide variant |
not specified [RCV004909564] |
Chr3:132483532 [GRCh38] Chr3:132202376 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4640T>C (p.Leu1547Pro) |
single nucleotide variant |
not specified [RCV004909563] |
Chr3:132502392 [GRCh38] Chr3:132221236 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1671G>T (p.Glu557Asp) |
single nucleotide variant |
not specified [RCV004622196] |
Chr3:132461163 [GRCh38] Chr3:132180007 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4990A>T (p.Ile1664Phe) |
single nucleotide variant |
not specified [RCV004622199] |
Chr3:132505407 [GRCh38] Chr3:132224251 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.604A>G (p.Ile202Val) |
single nucleotide variant |
not specified [RCV004622179] |
Chr3:132453364 [GRCh38] Chr3:132172208 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.1936G>T (p.Ala646Ser) |
single nucleotide variant |
not specified [RCV004622187] |
Chr3:132466038 [GRCh38] Chr3:132184882 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4661A>T (p.Tyr1554Phe) |
single nucleotide variant |
not specified [RCV004622197] |
Chr3:132502413 [GRCh38] Chr3:132221257 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.5642A>G (p.Lys1881Arg) |
single nucleotide variant |
not specified [RCV004909560] |
Chr3:132516785 [GRCh38] Chr3:132235629 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3413C>T (p.Pro1138Leu) |
single nucleotide variant |
not specified [RCV004909570] |
Chr3:132488443 [GRCh38] Chr3:132207287 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.179T>C (p.Val60Ala) |
single nucleotide variant |
not specified [RCV004909558] |
Chr3:132447355 [GRCh38] Chr3:132166199 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.4544C>T (p.Pro1515Leu) |
single nucleotide variant |
not specified [RCV004909561] |
Chr3:132502296 [GRCh38] Chr3:132221140 [GRCh37] Chr3:3q22.1 |
uncertain significance |
NM_015268.4(DNAJC13):c.3353G>A (p.Arg1118His) |
single nucleotide variant |
not specified [RCV004909559] |
Chr3:132488383 [GRCh38] Chr3:132207227 [GRCh37] Chr3:3q22.1 |
uncertain significance |