NM_001127898.4(CLCN5):c.1382A>C (p.Asp461Ala) |
single nucleotide variant |
not provided [RCV000722622] |
ChrX:50086695 [GRCh38] ChrX:49851352 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
NM_001127898.4(CLCN5):c.2295del (p.Met766fs) |
deletion |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV000012572] |
ChrX:50090819 [GRCh38] ChrX:49855476 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NG_007159.3:g.173054_173069dupinsAluYa5 |
insertion |
Dent disease type 1 [RCV000012575] |
ChrX:Xp11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.1557+1G>T |
single nucleotide variant |
Dent disease type 1 [RCV000012577] |
ChrX:50086871 [GRCh38] ChrX:49851528 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter) |
single nucleotide variant |
Dent disease type 1 [RCV000012563]|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV000012564] |
ChrX:50086360 [GRCh38] ChrX:49851017 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter) |
single nucleotide variant |
Dent disease type 1 [RCV000012565]|not provided [RCV001723558] |
ChrX:50090678 [GRCh38] ChrX:49855335 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.809T>G (p.Leu270Arg) |
single nucleotide variant |
Dent disease type 1 [RCV000012566] |
ChrX:50081723 [GRCh38] ChrX:49846380 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1768T>C (p.Ser590Pro) |
single nucleotide variant |
Dent disease type 1 [RCV000012567] |
ChrX:50090139 [GRCh38] ChrX:49854796 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) |
single nucleotide variant |
CLCN5-related condition [RCV003904829]|X-linked recessive nephrolithiasis with renal failure [RCV001004890] |
ChrX:50090846 [GRCh38] ChrX:49855503 [GRCh37] ChrX:Xp11.23 |
pathogenic|uncertain significance |
NM_001127898.4(CLCN5):c.1727G>A (p.Gly576Glu) |
single nucleotide variant |
Dent disease type 1 [RCV002266901]|X-linked recessive nephrolithiasis with renal failure [RCV002468922] |
ChrX:50088867 [GRCh38] ChrX:49853524 [GRCh37] ChrX:Xp11.23 |
pathogenic|not provided |
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) |
single nucleotide variant |
CLCN5-related condition [RCV003398487]|Dent disease type 1 [RCV000192274]|Dent disease type 1 [RCV002482856]|Hypophosphatemic rickets, X-linked recessive [RCV000012570]|not provided [RCV000485318] |
ChrX:50085987 [GRCh38] ChrX:49850644 [GRCh37] ChrX:Xp11.23 |
pathogenic|likely pathogenic|not provided |
NM_001127898.4(CLCN5):c.1238G>A (p.Trp413Ter) |
single nucleotide variant |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV000012571] |
ChrX:50086551 [GRCh38] ChrX:49851208 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1049G>C (p.Arg350Pro) |
single nucleotide variant |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV000012573] |
ChrX:50086362 [GRCh38] ChrX:49851019 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.380G>T (p.Gly127Val) |
single nucleotide variant |
X-linked recessive nephrolithiasis with renal failure [RCV002468923] |
ChrX:50072553 [GRCh38] ChrX:49837208 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.989G>T (p.Gly330Val) |
single nucleotide variant |
Dent disease type 1 [RCV000012576] |
ChrX:50086035 [GRCh38] ChrX:49850692 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1230C>A (p.Asn410Lys) |
single nucleotide variant |
Dent disease type 1 [RCV000033872] |
ChrX:50086543 [GRCh38] ChrX:49851200 [GRCh37] ChrX:Xp11.23 |
pathogenic|not provided |
NM_001127898.4(CLCN5):c.1747G>A (p.Gly583Arg) |
single nucleotide variant |
Dent disease type 1 [RCV000033873] |
ChrX:50090118 [GRCh38] ChrX:49854775 [GRCh37] ChrX:Xp11.23 |
pathogenic|not provided |
NM_001127898.4(CLCN5):c.1847A>G (p.Lys616Arg) |
single nucleotide variant |
Dent disease type 1 [RCV000033874] |
ChrX:50090218 [GRCh38] ChrX:49854875 [GRCh37] ChrX:Xp11.23 |
pathogenic|not provided |
NM_001127898.4(CLCN5):c.1849T>G (p.Trp617Gly) |
single nucleotide variant |
Dent disease type 1 [RCV000033875] |
ChrX:50090220 [GRCh38] ChrX:49854877 [GRCh37] ChrX:Xp11.23 |
pathogenic|not provided |
NM_001127898.4(CLCN5):c.884T>C (p.Leu295Pro) |
single nucleotide variant |
Dent disease type 1 [RCV000033876] |
ChrX:50081798 [GRCh38] ChrX:49846455 [GRCh37] ChrX:Xp11.23 |
pathogenic|not provided |
NM_001127898.4(CLCN5):c.1025A>G (p.Tyr342Cys) |
single nucleotide variant |
Dent disease type 1 [RCV000033877]|not provided [RCV002514143] |
ChrX:50086338 [GRCh38] ChrX:49850995 [GRCh37] ChrX:Xp11.23 |
pathogenic|likely pathogenic|not provided |
NM_001127898.4(CLCN5):c.1044G>C (p.Leu348Phe) |
single nucleotide variant |
Dent disease type 1 [RCV000033878] |
ChrX:50086357 [GRCh38] ChrX:49851014 [GRCh37] ChrX:Xp11.23 |
pathogenic|not provided |
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 |
copy number gain |
See cases [RCV000050889] |
ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 |
copy number gain |
See cases [RCV000050810] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 |
copy number loss |
See cases [RCV000050811] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000050699] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
Global developmental delay [RCV000050386]|See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000050697] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 |
copy number loss |
See cases [RCV000051026] |
ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1 |
copy number loss |
See cases [RCV000051663] |
ChrX:50086006..54030240 [GRCh38] ChrX:49850663..53957191 [GRCh37] ChrX:49737403..54073398 [NCBI36] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 |
copy number gain |
See cases [RCV000052325] |
ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3 |
copy number gain |
See cases [RCV000052390] |
ChrX:47859417..52789530 [GRCh38] ChrX:47835880..52818575 [GRCh37] ChrX:47603760..52835300 [NCBI36] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 |
copy number gain |
See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 |
copy number gain |
See cases [RCV000051992] |
ChrX:48344666..52664916 [GRCh38] ChrX:48204101..52616581 [GRCh37] ChrX:48089045..52710691 [NCBI36] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 |
copy number loss |
See cases [RCV000053005] |
ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 |
copy number loss |
See cases [RCV000052990] |
ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 |
copy number loss |
See cases [RCV000052994] |
ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 |
copy number loss |
See cases [RCV000053007] |
ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] |
ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001127898.4(CLCN5):c.1828G>A (p.Ala610Thr) |
single nucleotide variant |
not provided [RCV000054560] |
ChrX:50090199 [GRCh38] ChrX:49854856 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1984G>A (p.Asp662Asn) |
single nucleotide variant |
not provided [RCV000054561] |
ChrX:50090355 [GRCh38] ChrX:49855012 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.867C>T (p.Cys289=) |
single nucleotide variant |
not provided [RCV000054562] |
ChrX:50081781 [GRCh38] ChrX:49846438 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 |
copy number gain |
See cases [RCV000053817] |
ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 |
copy number gain |
See cases [RCV000133654] |
ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_001127898.4(CLCN5):c.1773TGT[1] (p.Val593del) |
microsatellite |
not provided [RCV003221437] |
ChrX:50090143..50090145 [GRCh38] ChrX:49854800..49854802 [GRCh37] ChrX:Xp11.23 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 |
copy number gain |
See cases [RCV000239834] |
ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 |
copy number loss |
See cases [RCV000133792] |
ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 |
copy number loss |
See cases [RCV000133817] |
ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 |
copy number loss |
See cases [RCV000133745] |
ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 |
copy number gain |
See cases [RCV000134564] |
ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 |
copy number loss |
See cases [RCV000134568] |
ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 |
copy number loss |
See cases [RCV000134026] |
ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 |
copy number loss |
See cases [RCV000135305] |
ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22 |
pathogenic |
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 |
copy number gain |
See cases [RCV000134956] |
ChrX:43361870..50931794 [GRCh38] ChrX:43221119..50674794 [GRCh37] ChrX:43106063..50691534 [NCBI36] ChrX:Xp11.3-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 |
copy number gain |
See cases [RCV000134957] |
ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 |
copy number gain |
See cases [RCV000135801] |
ChrX:48022053..52664916 [GRCh38] ChrX:47881447..52616581 [GRCh37] ChrX:47766391..52710691 [NCBI36] ChrX:Xp11.23-11.22 |
pathogenic|uncertain significance |
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 |
copy number loss |
See cases [RCV000135552] |
ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) |
copy number loss |
See cases [RCV000136094] |
ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
pathogenic |
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 |
copy number gain |
See cases [RCV000135958] |
ChrX:48344666..58055036 [GRCh38] ChrX:48204101..58081470 [GRCh37] ChrX:48089045..58098195 [NCBI36] ChrX:Xp11.23-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 |
copy number loss |
See cases [RCV000137112] |
ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic|uncertain significance |
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 |
copy number gain |
See cases [RCV000137137] |
ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 |
copy number gain |
See cases [RCV000136841] |
ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2 |
copy number gain |
See cases [RCV000136829] |
ChrX:48260861..52664916 [GRCh38] ChrX:48120296..52616581 [GRCh37] ChrX:48005240..52710691 [NCBI36] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 |
copy number gain |
See cases [RCV000136791] |
ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 |
copy number loss |
See cases [RCV000137430] |
ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 |
copy number loss |
See cases [RCV000137552] |
ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 |
copy number loss |
See cases [RCV000137414] |
ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1 |
pathogenic|likely benign |
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 |
copy number gain |
See cases [RCV000138106] |
ChrX:48429509..52664916 [GRCh38] ChrX:48287896..52616581 [GRCh37] ChrX:48172840..52710691 [NCBI36] ChrX:Xp11.23-11.22 |
pathogenic|likely pathogenic |
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 |
copy number loss |
See cases [RCV000138107] |
ChrX:48429509..52664916 [GRCh38] ChrX:48287896..52693966 [GRCh37] ChrX:48172840..52710691 [NCBI36] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 |
copy number loss |
See cases [RCV000137886] |
ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
pathogenic |
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 |
copy number loss |
See cases [RCV000138678] |
ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 |
copy number loss |
See cases [RCV000139343] |
ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 |
copy number loss |
See cases [RCV000139278] |
ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 |
copy number loss |
See cases [RCV000139352] |
ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
pathogenic |
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 |
copy number gain |
See cases [RCV000139185] |
ChrX:48386298..52664916 [GRCh38] ChrX:48245740..52616581 [GRCh37] ChrX:48130684..52710691 [NCBI36] ChrX:Xp11.23-11.22 |
pathogenic|uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 |
copy number gain |
See cases [RCV000139888] |
ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 |
copy number gain |
See cases [RCV000141400] |
ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 |
copy number gain |
See cases [RCV000141401] |
ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.23(chrX:49862612-49964651)x4 |
copy number gain |
See cases [RCV000141367] |
ChrX:49862612..49964651 [GRCh38] ChrX:49631636..49729261 [GRCh37] ChrX:49513953..49616001 [NCBI36] ChrX:Xp11.23 |
uncertain significance |
GRCh38/hg38 Xp11.23(chrX:49972424-50012442)x3 |
copy number gain |
See cases [RCV000141368] |
ChrX:49972424..50012442 [GRCh38] ChrX:49737035..49777050 [GRCh37] ChrX:49623775..49663790 [NCBI36] ChrX:Xp11.23 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 |
copy number loss |
See cases [RCV000140711] |
ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 |
copy number loss |
See cases [RCV000140787] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2 |
copy number gain |
See cases [RCV000141869] |
ChrX:48953927..53273903 [GRCh38] ChrX:48811187..53303085 [GRCh37] ChrX:48696131..53319810 [NCBI36] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 |
copy number loss |
See cases [RCV000141741] |
ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 |
copy number gain |
See cases [RCV000141567] |
ChrX:46971389..54130971 [GRCh38] ChrX:46818746..53957191 [GRCh37] ChrX:46703690..54174129 [NCBI36] ChrX:Xp11.3-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 |
copy number loss |
See cases [RCV000142334] |
ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 |
copy number loss |
See cases [RCV000142035] |
ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 |
copy number gain |
See cases [RCV000142134] |
ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 |
copy number gain |
See cases [RCV000142625] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 |
copy number loss |
See cases [RCV000143441] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 |
copy number gain |
See cases [RCV000143433] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 |
copy number loss |
See cases [RCV000143348] |
ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 |
copy number loss |
See cases [RCV000143130] |
ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 |
copy number gain |
See cases [RCV000143219] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.11:g.(?_49922616)_(50099235_?)del |
deletion |
Dent disease type 1 [RCV000192283] |
ChrX:49922616..50099235 [GRCh38] ChrX:Xp11.23 |
pathogenic |
NC_000023.11:g.(?_49922616)_(50099235_?)del |
deletion |
Dent disease type 1 [RCV000192284] |
ChrX:49922616..50099235 [GRCh38] ChrX:Xp11.23 |
pathogenic |
NC_000023.11:g.(?_49922616)_(50099235_?)del |
deletion |
Dent disease type 1 [RCV000192285] |
ChrX:49922616..50099235 [GRCh38] ChrX:Xp11.23 |
pathogenic |
Single allele |
variation |
Dent disease type 1 [RCV000192286] |
ChrX:Xp11.23 |
pathogenic |
Single allele |
variation |
Hypophosphatemic rickets, X-linked recessive [RCV000192287] |
ChrX:Xp11.23 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 |
copy number gain |
See cases [RCV000239843] |
ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter) |
single nucleotide variant |
CLCN5-related condition [RCV003417691]|Dent disease type 1 [RCV000192273] |
ChrX:50070025 [GRCh38] ChrX:49834680 [GRCh37] ChrX:Xp11.23 |
pathogenic|not provided |
NM_001127898.4(CLCN5):c.1046G>A (p.Trp349Ter) |
single nucleotide variant |
Dent disease type 1 [RCV000192275] |
ChrX:50086359 [GRCh38] ChrX:49851016 [GRCh37] ChrX:Xp11.23 |
pathogenic|not provided |
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter) |
single nucleotide variant |
Dent disease type 1 [RCV000192276]|not provided [RCV000381538] |
ChrX:50086562 [GRCh38] ChrX:49851219 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter) |
single nucleotide variant |
Dent disease type 1 [RCV000192277]|not provided [RCV000681792] |
ChrX:50088749 [GRCh38] ChrX:49853406 [GRCh37] ChrX:Xp11.23 |
pathogenic|likely pathogenic|not provided |
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp) |
single nucleotide variant |
Dent disease type 1 [RCV000192278] |
ChrX:50090127 [GRCh38] ChrX:49854784 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) |
single nucleotide variant |
Dent disease [RCV003401037]|Dent disease type 1 [RCV000192279]|Dent disease type 1 [RCV002478667]|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV001813768]|not provided [RCV000414429] |
ChrX:50090490 [GRCh38] ChrX:49855147 [GRCh37] ChrX:Xp11.23 |
pathogenic|not provided |
NM_001127898.4(CLCN5):c.2362C>T (p.Arg788Ter) |
single nucleotide variant |
Dent disease type 1 [RCV000192280]|not provided [RCV002517026] |
ChrX:50092130 [GRCh38] ChrX:49856787 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NG_007159.3:g.(?_162979)_(164232_?)del |
deletion |
Dent disease type 1 [RCV000192281] |
ChrX:50080594..50081847 [GRCh38] ChrX:49845251..49846504 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.2393_2415del (p.Val798fs) |
deletion |
Dent disease type 1 [RCV000192282] |
ChrX:50092157..50092179 [GRCh38] ChrX:49856814..49856836 [GRCh37] ChrX:Xp11.23 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 |
copy number loss |
See cases [RCV000239814] |
ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 |
copy number loss |
See cases [RCV000203435] |
ChrX:48310313..52614698 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 |
copy number gain |
See cases [RCV000240019] |
ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 |
copy number gain |
See cases [RCV000240552] |
ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001127898.4(CLCN5):c.*2980A>G |
single nucleotide variant |
Dent disease type 1 [RCV000302955] |
ChrX:50095199 [GRCh38] ChrX:49859856 [GRCh37] ChrX:Xp11.23 |
likely benign|uncertain significance |
NM_001127898.4(CLCN5):c.*869A>G |
single nucleotide variant |
Dent disease [RCV000303012] |
ChrX:50093088 [GRCh38] ChrX:49857745 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile) |
single nucleotide variant |
Dent disease type 1 [RCV000295672]|Dent disease type 1 [RCV002502414]|not provided [RCV003718230] |
ChrX:50090831 [GRCh38] ChrX:49855488 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1558-14G>C |
single nucleotide variant |
Dent disease [RCV000280548]|not provided [RCV001512380] |
ChrX:50088684 [GRCh38] ChrX:49853341 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) |
single nucleotide variant |
Dent disease type 1 [RCV000365075]|not provided [RCV001861353] |
ChrX:50081839 [GRCh38] ChrX:49846496 [GRCh37] ChrX:Xp11.23 |
benign|uncertain significance |
NM_001127898.4(CLCN5):c.696G>A (p.Ala232=) |
single nucleotide variant |
Dent disease type 1 [RCV000269242]|not provided [RCV002058829] |
ChrX:50080686 [GRCh38] ChrX:49845343 [GRCh37] ChrX:Xp11.23 |
likely benign|uncertain significance |
NM_001127898.4(CLCN5):c.*477G>A |
single nucleotide variant |
Dent disease type 1 [RCV000306386] |
ChrX:50092696 [GRCh38] ChrX:49857353 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*6608C>T |
single nucleotide variant |
Dent disease type 1 [RCV000306460] |
ChrX:50098827 [GRCh38] ChrX:49863484 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*1447T>G |
single nucleotide variant |
Dent disease type 1 [RCV000354597] |
ChrX:50093666 [GRCh38] ChrX:49858323 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.1243C>T (p.Arg415Trp) |
single nucleotide variant |
Dent disease type 1 [RCV000321225]|not provided [RCV002523833] |
ChrX:50086556 [GRCh38] ChrX:49851213 [GRCh37] ChrX:Xp11.23 |
benign|uncertain significance |
NM_001127898.4(CLCN5):c.*2324G>A |
single nucleotide variant |
Dent disease type 1 [RCV000343894] |
ChrX:50094543 [GRCh38] ChrX:49859200 [GRCh37] ChrX:Xp11.23 |
likely benign|uncertain significance |
NM_001127898.4(CLCN5):c.*6538G>A |
single nucleotide variant |
Dent disease type 1 [RCV000392269] |
ChrX:50098757 [GRCh38] ChrX:49863414 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.*4297A>C |
single nucleotide variant |
Dent disease type 1 [RCV000270934] |
ChrX:50096516 [GRCh38] ChrX:49861173 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*969A>C |
single nucleotide variant |
Dent disease [RCV000357835] |
ChrX:50093188 [GRCh38] ChrX:49857845 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*6372T>C |
single nucleotide variant |
Dent disease type 1 [RCV000369370] |
ChrX:50098591 [GRCh38] ChrX:49863248 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.*1735T>C |
single nucleotide variant |
Dent disease type 1 [RCV000273818] |
ChrX:50093954 [GRCh38] ChrX:49858611 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.*6275GTA[3] |
microsatellite |
Dent disease [RCV000312317] |
ChrX:50098493..50098494 [GRCh38] ChrX:49863150..49863151 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.*3627C>T |
single nucleotide variant |
Dent disease type 1 [RCV000311892] |
ChrX:50095846 [GRCh38] ChrX:49860503 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.164-2301G>A |
single nucleotide variant |
Dent disease [RCV000313020] |
ChrX:50067578 [GRCh38] ChrX:49832233 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.*4192C>T |
single nucleotide variant |
Dent disease type 1 [RCV000363119] |
ChrX:50096411 [GRCh38] ChrX:49861068 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.*6638G>A |
single nucleotide variant |
Dent disease type 1 [RCV000363440] |
ChrX:50098857 [GRCh38] ChrX:49863514 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2321G>A (p.Arg774Gln) |
single nucleotide variant |
not provided [RCV000308874] |
ChrX:50090847 [GRCh38] ChrX:49855504 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*2557A>G |
single nucleotide variant |
Dent disease type 1 [RCV000347238] |
ChrX:50094776 [GRCh38] ChrX:49859433 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*3937C>A |
single nucleotide variant |
Dent disease type 1 [RCV000276644] |
ChrX:50096156 [GRCh38] ChrX:49860813 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.416-6A>T |
single nucleotide variant |
Dent disease type 1 [RCV000314400]|not provided [RCV000964096] |
ChrX:50075789 [GRCh38] ChrX:49840444 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.164-2276G>A |
single nucleotide variant |
Dent disease type 1 [RCV000367852] |
ChrX:50067603 [GRCh38] ChrX:49832258 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=) |
single nucleotide variant |
Dent disease type 1 [RCV000317704]|Dent disease type 1 [RCV002480258]|not provided [RCV000889388] |
ChrX:50086735 [GRCh38] ChrX:49851392 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.*3652T>C |
single nucleotide variant |
Dent disease [RCV000368809] |
ChrX:50095871 [GRCh38] ChrX:49860528 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.*6143C>T |
single nucleotide variant |
Dent disease [RCV000281344] |
ChrX:50098362 [GRCh38] ChrX:49863019 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.*1564_*1567del |
deletion |
Dent disease [RCV000319658] |
ChrX:50093781..50093784 [GRCh38] ChrX:49858438..49858441 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1473C>T (p.Gly491=) |
single nucleotide variant |
Dent disease type 1 [RCV000375110]|not provided [RCV000923957] |
ChrX:50086786 [GRCh38] ChrX:49851443 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.*1723G>A |
single nucleotide variant |
Dent disease [RCV000374349] |
ChrX:50093942 [GRCh38] ChrX:49858599 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*5144C>T |
single nucleotide variant |
Dent disease type 1 [RCV000283850] |
ChrX:50097363 [GRCh38] ChrX:49862020 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.*5349del |
deletion |
Dent disease [RCV000322476] |
ChrX:50097557 [GRCh38] ChrX:49862214 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*4692C>T |
single nucleotide variant |
Dent disease type 1 [RCV000328404] |
ChrX:50096911 [GRCh38] ChrX:49861568 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.819= (p.Ser273=) |
single nucleotide variant |
Dent disease type 1 [RCV000329041]|not provided [RCV000948155] |
ChrX:50081733 [GRCh38] ChrX:49846390 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.*5815T>C |
single nucleotide variant |
Dent disease type 1 [RCV000379385] |
ChrX:50098034 [GRCh38] ChrX:49862691 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1244G>A (p.Arg415Gln) |
single nucleotide variant |
Dent disease [RCV000380459]|not provided [RCV000888782] |
ChrX:50086557 [GRCh38] ChrX:49851214 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.*5899_*5900del |
deletion |
Dent disease [RCV000287223] |
ChrX:50098112..50098113 [GRCh38] ChrX:49862769..49862770 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*1874G>A |
single nucleotide variant |
Dent disease type 1 [RCV000331215] |
ChrX:50094093 [GRCh38] ChrX:49858750 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*2460G>A |
single nucleotide variant |
Dent disease type 1 [RCV000382181] |
ChrX:50094679 [GRCh38] ChrX:49859336 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*5140A>G |
single nucleotide variant |
Dent disease type 1 [RCV000384741] |
ChrX:50097359 [GRCh38] ChrX:49862016 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.1914C>T (p.Pro638=) |
single nucleotide variant |
Dent disease [RCV000385508]|not provided [RCV001514241]|not specified [RCV000443529] |
ChrX:50090285 [GRCh38] ChrX:49854942 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.*2479G>A |
single nucleotide variant |
Dent disease type 1 [RCV000289974] |
ChrX:50094698 [GRCh38] ChrX:49859355 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*4034A>T |
single nucleotide variant |
Dent disease type 1 [RCV000334187] |
ChrX:50096253 [GRCh38] ChrX:49860910 [GRCh37] ChrX:Xp11.23 |
likely benign|uncertain significance |
NM_001127898.4(CLCN5):c.*5895T>A |
single nucleotide variant |
Dent disease type 1 [RCV000335278] |
ChrX:50098114 [GRCh38] ChrX:49862771 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*2270A>G |
single nucleotide variant |
Dent disease type 1 [RCV000388044] |
ChrX:50094489 [GRCh38] ChrX:49859146 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*6217G>A |
single nucleotide variant |
Dent disease type 1 [RCV000337964] |
ChrX:50098436 [GRCh38] ChrX:49863093 [GRCh37] ChrX:Xp11.23 |
likely benign|uncertain significance |
NM_001127898.4(CLCN5):c.*403_*406del |
deletion |
Dent disease [RCV000390513] |
ChrX:50092620..50092623 [GRCh38] ChrX:49857277..49857280 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.164-2249C>T |
single nucleotide variant |
Dent disease type 1 [RCV000392639] |
ChrX:50067630 [GRCh38] ChrX:49832285 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1213C>T (p.Leu405=) |
single nucleotide variant |
not provided [RCV000277341] |
ChrX:50086526 [GRCh38] ChrX:49851183 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*3071A>G |
single nucleotide variant |
Dent disease type 1 [RCV000341245] |
ChrX:50095290 [GRCh38] ChrX:49859947 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*1470C>T |
single nucleotide variant |
Dent disease [RCV000259753] |
ChrX:50093689 [GRCh38] ChrX:49858346 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.*2317G>A |
single nucleotide variant |
Dent disease type 1 [RCV000296075] |
ChrX:50094536 [GRCh38] ChrX:49859193 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*3255C>T |
single nucleotide variant |
Dent disease [RCV000297042] |
ChrX:50095474 [GRCh38] ChrX:49860131 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.*5956T>C |
single nucleotide variant |
Dent disease [RCV000399507] |
ChrX:50098175 [GRCh38] ChrX:49862832 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.*6240G>C |
single nucleotide variant |
Dent disease type 1 [RCV000399768]|not provided [RCV003437154] |
ChrX:50098459 [GRCh38] ChrX:49863116 [GRCh37] ChrX:Xp11.23 |
likely benign|uncertain significance |
NM_001127898.4(CLCN5):c.*3495A>G |
single nucleotide variant |
Dent disease type 1 [RCV000263683] |
ChrX:50095714 [GRCh38] ChrX:49860371 [GRCh37] ChrX:Xp11.23 |
likely benign|uncertain significance |
NM_001127898.4(CLCN5):c.*2860T>C |
single nucleotide variant |
Dent disease [RCV000401670] |
ChrX:50095079 [GRCh38] ChrX:49859736 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.1203G>C (p.Leu401=) |
single nucleotide variant |
Dent disease type 1 [RCV000266173]|not provided [RCV001510626] |
ChrX:50086516 [GRCh38] ChrX:49851173 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.*504G>C |
single nucleotide variant |
Dent disease type 1 [RCV000347486] |
ChrX:50092723 [GRCh38] ChrX:49857380 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1816G>A (p.Val606Met) |
single nucleotide variant |
Dent disease type 1 [RCV000349680]|not provided [RCV003736751] |
ChrX:50090187 [GRCh38] ChrX:49854844 [GRCh37] ChrX:Xp11.23 |
benign|uncertain significance |
NM_001127898.4(CLCN5):c.*349G>A |
single nucleotide variant |
Dent disease [RCV000350634] |
ChrX:50092568 [GRCh38] ChrX:49857225 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.*559A>G |
single nucleotide variant |
Dent disease type 1 [RCV000407070] |
ChrX:50092778 [GRCh38] ChrX:49857435 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.636G>A (p.Met212Ile) |
single nucleotide variant |
Dent disease type 1 [RCV000364337]|not provided [RCV000885931] |
ChrX:50080626 [GRCh38] ChrX:49845283 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.1251A>G (p.Arg417=) |
single nucleotide variant |
Dent disease [RCV000267166] |
ChrX:50086564 [GRCh38] ChrX:49851221 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.*1160del |
deletion |
Dent disease [RCV000267948] |
ChrX:50093378 [GRCh38] ChrX:49858035 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*1292C>T |
single nucleotide variant |
Dent disease type 1 [RCV000304340] |
ChrX:50093511 [GRCh38] ChrX:49858168 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*3409A>G |
single nucleotide variant |
Dent disease type 1 [RCV000354217] |
ChrX:50095628 [GRCh38] ChrX:49860285 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.*3090C>T |
single nucleotide variant |
Dent disease type 1 [RCV000408009] |
ChrX:50095309 [GRCh38] ChrX:49859966 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2261A>G (p.Asp754Gly) |
single nucleotide variant |
not provided [RCV000722337] |
ChrX:50090787 [GRCh38] ChrX:49855444 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 |
copy number gain |
not provided [RCV000488046] |
ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
uncertain significance |
NM_001127898.4(CLCN5):c.164-2333T>G |
single nucleotide variant |
Dent disease [RCV000262347] |
ChrX:50067546 [GRCh38] ChrX:49832201 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1374del (p.Phe459fs) |
deletion |
Inborn genetic diseases [RCV000622711] |
ChrX:50086687 [GRCh38] ChrX:49851344 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.575G>A (p.Trp192Ter) |
single nucleotide variant |
Dent disease type 1 [RCV000578351] |
ChrX:50075954 [GRCh38] ChrX:49840609 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.2283_2286del (p.Asp762fs) |
microsatellite |
not provided [RCV000598774] |
ChrX:50090805..50090808 [GRCh38] ChrX:49855462..49855465 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.1087C>T (p.Arg363Cys) |
single nucleotide variant |
not provided [RCV000728615] |
ChrX:50086400 [GRCh38] ChrX:49851057 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 |
copy number loss |
not provided [RCV000753275] |
ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=) |
single nucleotide variant |
Dent disease type 1 [RCV002476310]|not provided [RCV000897404]|not specified [RCV000594725] |
ChrX:50086570 [GRCh38] ChrX:49851227 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) |
single nucleotide variant |
Dent disease type 1 [RCV000505611]|Dent disease type 1 [RCV002481632] |
ChrX:50088816 [GRCh38] ChrX:49853473 [GRCh37] ChrX:Xp11.23 |
pathogenic|likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 |
copy number gain |
See cases [RCV000449147] |
ChrX:48317353..51497588 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001127898.4(CLCN5):c.1061C>T (p.Ala354Val) |
single nucleotide variant |
Dent disease type 1 [RCV000449620] |
ChrX:50086374 [GRCh38] ChrX:49851031 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 |
copy number loss |
See cases [RCV000446584] |
ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 |
copy number loss |
See cases [RCV000447092] |
ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 |
copy number loss |
See cases [RCV000447470] |
ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 |
copy number gain |
See cases [RCV000446310] |
ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 |
copy number gain |
See cases [RCV000447617] |
ChrX:48317353..51497588 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 |
copy number loss |
See cases [RCV000447773] |
ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 |
copy number loss |
See cases [RCV000512136] |
ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 |
copy number loss |
See cases [RCV000510382] |
ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 |
copy number loss |
See cases [RCV000510419] |
ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 |
copy number loss |
See cases [RCV000510437] |
ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 |
copy number loss |
See cases [RCV000511615] |
ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 |
copy number loss |
See cases [RCV000512022] |
ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001127898.4(CLCN5):c.1796C>T (p.Thr599Ile) |
single nucleotide variant |
not provided [RCV000494019] |
ChrX:50090167 [GRCh38] ChrX:49854824 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 |
copy number loss |
See cases [RCV000512026] |
ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1 |
pathogenic |
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic|uncertain significance |
NM_001127898.4(CLCN5):c.1607G>T (p.Gly536Val) |
single nucleotide variant |
not provided [RCV000494564] |
ChrX:50088747 [GRCh38] ChrX:49853404 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) |
single nucleotide variant |
Dent disease type 1 [RCV000995509]|Dent disease type 1 [RCV002497222]|not provided [RCV000578984] |
ChrX:50070007 [GRCh38] ChrX:49834662 [GRCh37] ChrX:Xp11.23 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 |
copy number loss |
See cases [RCV000510822] |
ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_001127898.4(CLCN5):c.1551del (p.Gly517_Met518insTer) |
deletion |
Hyperkalemia [RCV000626586] |
ChrX:50086864 [GRCh38] ChrX:49851521 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) |
copy number loss |
See cases [RCV000512142] |
ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 |
copy number gain |
See cases [RCV000512224] |
ChrX:48224454..52813336 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 |
copy number gain |
See cases [RCV000512561] |
ChrX:48290189..52154997 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 |
copy number loss |
See cases [RCV000512339] |
ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001127898.4(CLCN5):c.344G>A (p.Trp115Ter) |
single nucleotide variant |
Dent disease type 1 [RCV000679942] |
ChrX:50072517 [GRCh38] ChrX:49837172 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His) |
single nucleotide variant |
Dent disease type 1 [RCV000714293] |
ChrX:50086709 [GRCh38] ChrX:49851366 [GRCh37] ChrX:Xp11.23 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 |
copy number loss |
not provided [RCV000684331] |
ChrX:48156672..52672728 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh37/hg19 Xp11.23(chrX:49360237-49795931)x2 |
copy number gain |
not provided [RCV000684332] |
ChrX:49360237..49795931 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 |
copy number gain |
not provided [RCV000684261] |
ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31 |
pathogenic |
NM_001127898.4(CLCN5):c.2116C>T (p.Leu706Phe) |
single nucleotide variant |
not provided [RCV000681844] |
ChrX:50090487 [GRCh38] ChrX:49855144 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.415+1G>A |
single nucleotide variant |
not provided [RCV000681864] |
ChrX:50072589 [GRCh38] ChrX:49837244 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1466C>T (p.Pro489Leu) |
single nucleotide variant |
CLCN5-related condition [RCV003892571]|Hypophosphatemic rickets, X-linked recessive [RCV000710033]|not provided [RCV003768095] |
ChrX:50086779 [GRCh38] ChrX:49851436 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 |
copy number loss |
not provided [RCV000753274] |
ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 |
copy number loss |
not provided [RCV000753535] |
ChrX:48115450..73424191 [GRCh37] ChrX:Xp11.23-q13.2 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 |
copy number loss |
not provided [RCV000753271] |
ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala) |
single nucleotide variant |
Dent disease type 1 [RCV002477750]|Inborn genetic diseases [RCV003243294]|not provided [RCV000762639] |
ChrX:50090727 [GRCh38] ChrX:49855384 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1744+216CT[3] |
microsatellite |
not provided [RCV001709911] |
ChrX:50089099..50089100 [GRCh38] ChrX:49853756..49853757 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.17-39087= |
variation |
Dent disease type 1 [RCV000990824] |
ChrX:50003229 [GRCh38] ChrX:49767835 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.17-55G>A |
single nucleotide variant |
not provided [RCV001585544] |
ChrX:50042261 [GRCh38] ChrX:49806870 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.*5377G>A |
single nucleotide variant |
Dent disease type 1 [RCV001166397] |
ChrX:50097596 [GRCh38] ChrX:49862253 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.819A>G (p.Ser273=) |
single nucleotide variant |
not provided [RCV000948154] |
ChrX:50081733 [GRCh38] ChrX:49846390 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.2180C>G (p.Thr727Ser) |
single nucleotide variant |
CLCN5-related condition [RCV003910819]|not provided [RCV000905470] |
ChrX:50090706 [GRCh38] ChrX:49855363 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.728_745dup (p.Ser248_Gly249insValLysThrIleLeuSer) |
duplication |
not provided [RCV001064892] |
ChrX:50081641..50081642 [GRCh38] ChrX:49846298..49846299 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn) |
single nucleotide variant |
Dent disease type 1 [RCV001166733]|Dent disease type 1 [RCV002489598]|not provided [RCV001047653] |
ChrX:50075827 [GRCh38] ChrX:49840482 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.164-2118G>T |
single nucleotide variant |
Dent disease type 1 [RCV000778897]|not provided [RCV003144584] |
ChrX:50067761 [GRCh38] ChrX:49832416 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1293C>T (p.Leu431=) |
single nucleotide variant |
not provided [RCV000979717] |
ChrX:50086606 [GRCh38] ChrX:49851263 [GRCh37] ChrX:Xp11.23 |
likely benign |
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 |
copy number loss |
not provided [RCV000846273] |
ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1 |
pathogenic |
NM_001127898.4(CLCN5):c.1224C>T (p.Arg408=) |
single nucleotide variant |
not provided [RCV000937873] |
ChrX:50086537 [GRCh38] ChrX:49851194 [GRCh37] ChrX:Xp11.23 |
likely benign |
46,Y,inv(X)(p21.1q13.3) |
inversion |
Elevated circulating creatine kinase concentration [RCV000856573] |
ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 |
copy number gain |
not provided [RCV000847795] |
ChrX:48224266..52744574 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.*3957C>G |
single nucleotide variant |
Dent disease type 1 [RCV001168565] |
ChrX:50096176 [GRCh38] ChrX:49860833 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*3388T>G |
single nucleotide variant |
Dent disease type 1 [RCV001166854] |
ChrX:50095607 [GRCh38] ChrX:49860264 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*5240T>C |
single nucleotide variant |
Dent disease type 1 [RCV001166395] |
ChrX:50097459 [GRCh38] ChrX:49862116 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*5340A>C |
single nucleotide variant |
Dent disease type 1 [RCV001166396] |
ChrX:50097559 [GRCh38] ChrX:49862216 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 |
copy number loss |
not provided [RCV000845670] |
ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32 |
pathogenic |
NM_001127898.4(CLCN5):c.*1625C>T |
single nucleotide variant |
Dent disease type 1 [RCV001168512] |
ChrX:50093844 [GRCh38] ChrX:49858501 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*969A>G |
single nucleotide variant |
Dent disease type 1 [RCV001166802] |
ChrX:50093188 [GRCh38] ChrX:49857845 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*5970C>T |
single nucleotide variant |
Dent disease type 1 [RCV001166919] |
ChrX:50098189 [GRCh38] ChrX:49862846 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*6482C>T |
single nucleotide variant |
Dent disease type 1 [RCV001168633] |
ChrX:50098701 [GRCh38] ChrX:49863358 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.942G>A (p.Ser314=) |
single nucleotide variant |
Dent disease type 1 [RCV001166391]|not provided [RCV002559595] |
ChrX:50085988 [GRCh38] ChrX:49850645 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His) |
single nucleotide variant |
Dent disease type 1 [RCV001168452]|Dent disease type 1 [RCV002505749]|not provided [RCV001402929] |
ChrX:50086536 [GRCh38] ChrX:49851193 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.315+12G>A |
single nucleotide variant |
Dent disease type 1 [RCV001166732]|Dent disease type 1 [RCV002480576]|not provided [RCV002068022] |
ChrX:50070042 [GRCh38] ChrX:49834697 [GRCh37] ChrX:Xp11.23 |
benign |
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 |
copy number loss |
See cases [RCV000790583] |
ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.727-5T>C |
single nucleotide variant |
not provided [RCV000942691] |
ChrX:50081636 [GRCh38] ChrX:49846293 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.1745G>T (p.Gly582Val) |
single nucleotide variant |
not provided [RCV000788927] |
ChrX:50090116 [GRCh38] ChrX:49854773 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.554A>G (p.Lys185Arg) |
single nucleotide variant |
CLCN5-related condition [RCV003918753]|Dent disease type 1 [RCV001166734]|not provided [RCV001410397] |
ChrX:50075933 [GRCh38] ChrX:49840588 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.*6163T>C |
single nucleotide variant |
Dent disease type 1 [RCV001166920] |
ChrX:50098382 [GRCh38] ChrX:49863039 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*6694C>T |
single nucleotide variant |
Dent disease type 1 [RCV001168634] |
ChrX:50098913 [GRCh38] ChrX:49863570 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2143_2143+10del |
deletion |
not provided [RCV001055966] |
ChrX:50090512..50090522 [GRCh38] ChrX:49855169..49855179 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.933+3A>C |
single nucleotide variant |
Dent disease type 1 [RCV001029958] |
ChrX:50081850 [GRCh38] ChrX:49846507 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.316-17T>G |
single nucleotide variant |
Bethlem myopathy 1 [RCV001258307]|not provided [RCV000999430] |
ChrX:50072472 [GRCh38] ChrX:49837127 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.2236del (p.Thr746fs) |
deletion |
Dent disease type 1 [RCV001200919] |
ChrX:50090762 [GRCh38] ChrX:49855419 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1768dup (p.Ser590fs) |
duplication |
Dent disease type 1 [RCV001200668] |
ChrX:50090136..50090137 [GRCh38] ChrX:49854793..49854794 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.845del (p.Gly282fs) |
deletion |
not provided [RCV001008355] |
ChrX:50081757 [GRCh38] ChrX:49846414 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met) |
single nucleotide variant |
Dent disease type 1 [RCV002484307]|not provided [RCV001239439] |
ChrX:50090724 [GRCh38] ChrX:49855381 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1917T>G (p.Phe639Leu) |
single nucleotide variant |
not provided [RCV001221610] |
ChrX:50090288 [GRCh38] ChrX:49854945 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2197A>G (p.Thr733Ala) |
single nucleotide variant |
X-linked recessive nephrolithiasis with renal failure [RCV001196885] |
ChrX:50090723 [GRCh38] ChrX:49855380 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001127898.4(CLCN5):c.1810T>A (p.Tyr604Asn) |
single nucleotide variant |
Dent disease type 1 [RCV001250478] |
ChrX:50090181 [GRCh38] ChrX:49854838 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.*379G>C |
single nucleotide variant |
Dent disease type 1 [RCV001166274] |
ChrX:50092598 [GRCh38] ChrX:49857255 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*2849C>T |
single nucleotide variant |
Dent disease type 1 [RCV001166331] |
ChrX:50095068 [GRCh38] ChrX:49859725 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*5844C>T |
single nucleotide variant |
Dent disease type 1 [RCV001166398] |
ChrX:50098063 [GRCh38] ChrX:49862720 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1685A>G (p.Gln562Arg) |
single nucleotide variant |
not provided [RCV001212026] |
ChrX:50088825 [GRCh38] ChrX:49853482 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1488T>C (p.Ser496=) |
single nucleotide variant |
Dent disease type 1 [RCV001169191]|not provided [RCV003769824] |
ChrX:50086801 [GRCh38] ChrX:49851458 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.1872G>A (p.Arg624=) |
single nucleotide variant |
Dent disease type 1 [RCV001169192]|not provided [RCV003769825] |
ChrX:50090243 [GRCh38] ChrX:49854900 [GRCh37] ChrX:Xp11.23 |
likely benign|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001127898.4(CLCN5):c.933+2T>C |
single nucleotide variant |
Dent disease type 1 [RCV001580335] |
ChrX:50081849 [GRCh38] ChrX:49846506 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1557+77A>G |
single nucleotide variant |
not provided [RCV001635907] |
ChrX:50086947 [GRCh38] ChrX:49851604 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.1745-159G>A |
single nucleotide variant |
not provided [RCV001592052] |
ChrX:50089957 [GRCh38] ChrX:49854614 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1427G>A (p.Arg476His) |
single nucleotide variant |
not provided [RCV001907885] |
ChrX:50086740 [GRCh38] ChrX:49851397 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1852G>A (p.Val618Met) |
single nucleotide variant |
not provided [RCV000936485] |
ChrX:50090223 [GRCh38] ChrX:49854880 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.*866A>G |
single nucleotide variant |
Dent disease type 1 [RCV001166801] |
ChrX:50093085 [GRCh38] ChrX:49857742 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*3091G>A |
single nucleotide variant |
Dent disease type 1 [RCV001166853] |
ChrX:50095310 [GRCh38] ChrX:49859967 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.976G>C (p.Gly326Arg) |
single nucleotide variant |
Dent disease type 1 [RCV001580334] |
ChrX:50086022 [GRCh38] ChrX:49850679 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.316-201dup |
duplication |
not provided [RCV001656810] |
ChrX:50072286..50072287 [GRCh38] ChrX:49836941..49836942 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.2060dup (p.Tyr687Ter) |
duplication |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV002251020] |
ChrX:50090430..50090431 [GRCh38] ChrX:49855087..49855088 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.316-294G>T |
single nucleotide variant |
not provided [RCV001596151] |
ChrX:50072195 [GRCh38] ChrX:49836850 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.2361-67C>T |
single nucleotide variant |
not provided [RCV001560224] |
ChrX:50092062 [GRCh38] ChrX:49856719 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1452del (p.Glu484fs) |
deletion |
Dent disease type 1 [RCV002471347] |
ChrX:50086764 [GRCh38] ChrX:49851421 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1420G>A (p.Glu474Lys) |
single nucleotide variant |
X-linked recessive nephrolithiasis with renal failure [RCV002471879] |
ChrX:50086733 [GRCh38] ChrX:49851390 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1A>G (p.Met1Val) |
single nucleotide variant |
Dent disease type 1 [RCV002472296] |
ChrX:49925299 [GRCh38] ChrX:49689909 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2361-154G>C |
single nucleotide variant |
not provided [RCV001688707] |
ChrX:50091975 [GRCh38] ChrX:49856632 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.603+242A>G |
single nucleotide variant |
not provided [RCV001641703] |
ChrX:50076224 [GRCh38] ChrX:49840879 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.416-152A>G |
single nucleotide variant |
not provided [RCV001710010] |
ChrX:50075643 [GRCh38] ChrX:49840298 [GRCh37] ChrX:Xp11.23 |
benign |
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 |
copy number loss |
not provided [RCV001007224] |
ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001127898.4(CLCN5):c.*4740C>G |
single nucleotide variant |
Dent disease type 1 [RCV001169329] |
ChrX:50096959 [GRCh38] ChrX:49861616 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2 |
copy number gain |
not provided [RCV001537899] |
ChrX:47179068..54424785 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.2144-60G>A |
single nucleotide variant |
not provided [RCV001695692] |
ChrX:50090610 [GRCh38] ChrX:49855267 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.2361-238C>T |
single nucleotide variant |
not provided [RCV001613685] |
ChrX:50091891 [GRCh38] ChrX:49856548 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.164-2130C>T |
single nucleotide variant |
Dent disease type 1 [RCV001166731] |
ChrX:50067749 [GRCh38] ChrX:49832404 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1426C>T (p.Arg476Cys) |
single nucleotide variant |
not provided [RCV001217517] |
ChrX:50086739 [GRCh38] ChrX:49851396 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*3912C>T |
single nucleotide variant |
Dent disease type 1 [RCV001168564] |
ChrX:50096131 [GRCh38] ChrX:49860788 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*1868T>C |
single nucleotide variant |
Dent disease type 1 [RCV001168513] |
ChrX:50094087 [GRCh38] ChrX:49858744 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*6841T>C |
single nucleotide variant |
Dent disease type 1 [RCV001168635] |
ChrX:50099060 [GRCh38] ChrX:49863717 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*6955C>G |
single nucleotide variant |
Dent disease type 1 [RCV001168636] |
ChrX:50099174 [GRCh38] ChrX:49863831 [GRCh37] ChrX:Xp11.23 |
benign |
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 |
copy number gain |
not provided [RCV001007303] |
ChrX:48307437..50657313 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.*1887G>C |
single nucleotide variant |
Dent disease type 1 [RCV001169250] |
ChrX:50094106 [GRCh38] ChrX:49858763 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*1938G>A |
single nucleotide variant |
Dent disease type 1 [RCV001169251] |
ChrX:50094157 [GRCh38] ChrX:49858814 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*5088G>T |
single nucleotide variant |
Dent disease type 1 [RCV001169331] |
ChrX:50097307 [GRCh38] ChrX:49861964 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.477_478dup (p.Cys160fs) |
microsatellite |
Dent disease type 1 [RCV001200918] |
ChrX:50075852..50075853 [GRCh38] ChrX:49840507..49840508 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.2293C>T (p.Pro765Ser) |
single nucleotide variant |
Dent disease type 1 [RCV001166272] |
ChrX:50090819 [GRCh38] ChrX:49855476 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1851G>T (p.Trp617Cys) |
single nucleotide variant |
Dent disease type 1 [RCV001195723] |
ChrX:50090222 [GRCh38] ChrX:49854879 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1771_1772del (p.Leu591fs) |
microsatellite |
Dent disease type 1 [RCV001200917] |
ChrX:50090139..50090140 [GRCh38] ChrX:49854796..49854797 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs) |
deletion |
Dent disease type 1 [RCV001200921] |
ChrX:50086489 [GRCh38] ChrX:49851146 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.334G>T (p.Glu112Ter) |
single nucleotide variant |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV001250540] |
ChrX:50072507 [GRCh38] ChrX:49837162 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.*2384A>C |
single nucleotide variant |
Dent disease type 1 [RCV001169252] |
ChrX:50094603 [GRCh38] ChrX:49859260 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*4606A>C |
single nucleotide variant |
Dent disease type 1 [RCV001169328] |
ChrX:50096825 [GRCh38] ChrX:49861482 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*4911G>A |
single nucleotide variant |
Dent disease type 1 [RCV001169330] |
ChrX:50097130 [GRCh38] ChrX:49861787 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*39C>T |
single nucleotide variant |
Dent disease type 1 [RCV001166273] |
ChrX:50092258 [GRCh38] ChrX:49856915 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.*1339A>G |
single nucleotide variant |
Dent disease type 1 [RCV001166803] |
ChrX:50093558 [GRCh38] ChrX:49858215 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1441A>T (p.Lys481Ter) |
single nucleotide variant |
Dent disease type 1 [RCV001251460] |
ChrX:50086754 [GRCh38] ChrX:49851411 [GRCh37] ChrX:Xp11.23 |
pathogenic|uncertain significance |
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser) |
single nucleotide variant |
Dent disease type 1 [RCV001253531]|Dent disease type 1 [RCV002491858] |
ChrX:50090868 [GRCh38] ChrX:49855525 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1012G>T (p.Glu338Ter) |
single nucleotide variant |
Dent disease type 1 [RCV001251505] |
ChrX:50086058 [GRCh38] ChrX:49850715 [GRCh37] ChrX:Xp11.23 |
pathogenic|uncertain significance |
NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs) |
duplication |
Dent disease type 1 [RCV001252964] |
ChrX:50086638..50086639 [GRCh38] ChrX:49851295..49851296 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.332_333del (p.Lys111fs) |
deletion |
Dent disease type 1 [RCV001262324] |
ChrX:50072504..50072505 [GRCh38] ChrX:49837159..49837160 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 |
copy number gain |
not provided [RCV001258953] |
ChrX:48102202..52685635 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 |
copy number gain |
not provided [RCV001258954] |
ChrX:48178413..52686510 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.164-252C>G |
single nucleotide variant |
not provided [RCV001641706] |
ChrX:50069627 [GRCh38] ChrX:49834282 [GRCh37] ChrX:Xp11.23 |
benign |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) |
copy number loss |
Turner syndrome [RCV002280671] |
ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001127898.4(CLCN5):c.416-1G>C |
single nucleotide variant |
not provided [RCV001268581] |
ChrX:50075794 [GRCh38] ChrX:49840449 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001127898.4(CLCN5):c.384G>C (p.Trp128Cys) |
single nucleotide variant |
Dent disease type 1 [RCV001280860] |
ChrX:50072557 [GRCh38] ChrX:49837212 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.328del (p.Ser110fs) |
deletion |
Inborn genetic diseases [RCV001266436]|not provided [RCV002537688] |
ChrX:50072498 [GRCh38] ChrX:49837153 [GRCh37] ChrX:Xp11.23 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) |
copy number loss |
Turner syndrome [RCV002280669] |
ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.961G>A (p.Val321Ile) |
single nucleotide variant |
Dent disease type 1 [RCV001262337] |
ChrX:50086007 [GRCh38] ChrX:49850664 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 |
copy number loss |
See cases [RCV001263061] |
ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 |
copy number loss |
not provided [RCV001281358] |
ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001127898.4(CLCN5):c.604-2A>G |
single nucleotide variant |
Nephrotic syndrome [RCV001328282] |
ChrX:50080592 [GRCh38] ChrX:49845249 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) |
single nucleotide variant |
Hypophosphatemic rickets, X-linked recessive [RCV001330763] |
ChrX:50085987 [GRCh38] ChrX:49850644 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) |
deletion |
Dent disease type 1 [RCV001328284]|Dent disease type 1 [RCV002499463] |
ChrX:50088703 [GRCh38] ChrX:49853360 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met) |
single nucleotide variant |
Dent disease type 1 [RCV002493563]|not provided [RCV001297120] |
ChrX:50086610 [GRCh38] ChrX:49851267 [GRCh37] ChrX:Xp11.23 |
likely benign|uncertain significance |
NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln) |
single nucleotide variant |
Dent disease type 1 [RCV001356240]|Hypophosphatemic rickets, X-linked recessive [RCV001354995]|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV001358011]|X-linked recessive nephrolithiasis with renal failure [RCV001355708] |
ChrX:50042451 [GRCh38] ChrX:49807060 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NC_000023.10:g.(?_48382160)_(49856876_?)dup |
duplication |
Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-congenital disorder of glycosylation [RCV001308190] |
ChrX:48382160..49856876 [GRCh37] ChrX:Xp11.23-11.22 |
uncertain significance |
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) |
single nucleotide variant |
Dent disease type 1 [RCV002480886]|Nephrotic syndrome [RCV001328283]|not provided [RCV003558785] |
ChrX:50081785 [GRCh38] ChrX:49846442 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.1730del (p.Ala577fs) |
deletion |
Dent disease type 1 [RCV001328285] |
ChrX:50088870 [GRCh38] ChrX:49853527 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.2087G>A (p.Arg696Gln) |
single nucleotide variant |
not provided [RCV001327201] |
ChrX:50090458 [GRCh38] ChrX:49855115 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.583C>G (p.Leu195Val) |
single nucleotide variant |
not provided [RCV001360407] |
ChrX:50075962 [GRCh38] ChrX:49840617 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2361-3T>G |
single nucleotide variant |
not provided [RCV001296407] |
ChrX:50092126 [GRCh38] ChrX:49856783 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1222C>T (p.Arg408Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003246935]|not provided [RCV001359686] |
ChrX:50086535 [GRCh38] ChrX:49851192 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1302A>G (p.Thr434=) |
single nucleotide variant |
not provided [RCV001475213] |
ChrX:50086615 [GRCh38] ChrX:49851272 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1092dup (p.Ile365fs) |
duplication |
not provided [RCV001387670] |
ChrX:50086403..50086404 [GRCh38] ChrX:49851060..49851061 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val) |
single nucleotide variant |
Dent disease type 1 [RCV002493956]|not provided [RCV001403950] |
ChrX:50081710 [GRCh38] ChrX:49846367 [GRCh37] ChrX:Xp11.23 |
likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 |
copy number loss |
not provided [RCV001537933] |
ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001127898.4(CLCN5):c.108C>T (p.Thr36=) |
single nucleotide variant |
not provided [RCV001683868] |
ChrX:50042407 [GRCh38] ChrX:49807016 [GRCh37] ChrX:Xp11.23 |
benign |
NC_000023.10:g.(?_49845231)_(49851547_?)del |
deletion |
not provided [RCV001385627] |
ChrX:49845231..49851547 [GRCh37] ChrX:Xp11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.1386_1387del (p.Cys462fs) |
microsatellite |
Dent disease type 1 [RCV002249363] |
ChrX:50086697..50086698 [GRCh38] ChrX:49851354..49851355 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NC_000023.10:g.(?_47001716)_(50659607_?)dup |
duplication |
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]|Neurodegeneration with brain iron accumulation 5 [RCV003105408]|SLC35A2-congenital disorder of glycosylation [RCV003122412] |
ChrX:47001716..50659607 [GRCh37] ChrX:Xp11.23-11.22 |
uncertain significance |
NM_001127898.4(CLCN5):c.1027T>C (p.Phe343Leu) |
single nucleotide variant |
not specified [RCV002247085] |
ChrX:50086340 [GRCh38] ChrX:49850997 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2168G>C (p.Gly723Ala) |
single nucleotide variant |
not provided [RCV003698887]|not specified [RCV002247086] |
ChrX:50090694 [GRCh38] ChrX:49855351 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1014+1G>C |
single nucleotide variant |
not provided [RCV001780512] |
ChrX:50086061 [GRCh38] ChrX:49850718 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1674C>G (p.Ser558Arg) |
single nucleotide variant |
not provided [RCV001765635] |
ChrX:50088814 [GRCh38] ChrX:49853471 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
Single allele |
complex |
Turner syndrome [RCV002280670] |
ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001127898.4(CLCN5):c.1014+1G>A |
single nucleotide variant |
Dent disease type 1 [RCV001814743] |
ChrX:50086061 [GRCh38] ChrX:49850718 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His) |
single nucleotide variant |
Dent disease type 1 [RCV002490182]|not provided [RCV001915212] |
ChrX:50081840 [GRCh38] ChrX:49846497 [GRCh37] ChrX:Xp11.23 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001127898.4(CLCN5):c.682G>C (p.Val228Leu) |
single nucleotide variant |
not provided [RCV001891300] |
ChrX:50080672 [GRCh38] ChrX:49845329 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.379G>C (p.Gly127Arg) |
single nucleotide variant |
Dent disease type 1 [RCV001843320] |
ChrX:50072552 [GRCh38] ChrX:49837207 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV001834509] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001127898.4(CLCN5):c.1108A>G (p.Asn370Asp) |
single nucleotide variant |
not provided [RCV001871358] |
ChrX:50086421 [GRCh38] ChrX:49851078 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.10:g.(?_49834581)_(49840657_?)del |
deletion |
not provided [RCV002007459] |
ChrX:49834581..49840657 [GRCh37] ChrX:Xp11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His) |
single nucleotide variant |
CLCN5-related condition [RCV003911047]|Dent disease type 1 [RCV002489900]|not provided [RCV002543340]|not specified [RCV001844782] |
ChrX:50088775 [GRCh38] ChrX:49853432 [GRCh37] ChrX:Xp11.23 |
likely benign|uncertain significance |
NM_001127898.4(CLCN5):c.1938del (p.Phe646fs) |
deletion |
Dent disease type 1 [RCV001849668] |
ChrX:50090307 [GRCh38] ChrX:49854964 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.2297del (p.Met766fs) |
deletion |
not provided [RCV001954525] |
ChrX:50090823 [GRCh38] ChrX:49855480 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1009G>A (p.Glu337Lys) |
single nucleotide variant |
not provided [RCV001999626] |
ChrX:50086055 [GRCh38] ChrX:49850712 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.1018A>G (p.Ser340Gly) |
single nucleotide variant |
not provided [RCV001882972] |
ChrX:50086331 [GRCh38] ChrX:49850988 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1114C>T (p.Arg372Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002549053]|not provided [RCV002031427] |
ChrX:50086427 [GRCh38] ChrX:49851084 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val) |
single nucleotide variant |
Dent disease type 1 [RCV002491934]|Inborn genetic diseases [RCV002560477]|not provided [RCV001957299] |
ChrX:50090714 [GRCh38] ChrX:49855371 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1331A>G (p.Asn444Ser) |
single nucleotide variant |
not provided [RCV002033165] |
ChrX:50086644 [GRCh38] ChrX:49851301 [GRCh37] ChrX:Xp11.23 |
likely benign|uncertain significance |
NM_001127898.4(CLCN5):c.2361-2A>T |
single nucleotide variant |
not provided [RCV002031851] |
ChrX:50092127 [GRCh38] ChrX:49856784 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1244G>T (p.Arg415Leu) |
single nucleotide variant |
not provided [RCV001989925] |
ChrX:50086557 [GRCh38] ChrX:49851214 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1394T>G (p.Leu465Arg) |
single nucleotide variant |
not provided [RCV002012524] |
ChrX:50086707 [GRCh38] ChrX:49851364 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1643A>G (p.Tyr548Cys) |
single nucleotide variant |
not provided [RCV002028897] |
ChrX:50088783 [GRCh38] ChrX:49853440 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NC_000023.10:g.(?_48932462)_(49840657_?)dup |
duplication |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001922920] |
ChrX:48932462..49840657 [GRCh37] ChrX:Xp11.23-11.22 |
uncertain significance |
NM_001127898.4(CLCN5):c.1537A>G (p.Ile513Val) |
single nucleotide variant |
Dent disease type 1 [RCV002484739]|not provided [RCV001955931] |
ChrX:50086850 [GRCh38] ChrX:49851507 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2361-18A>G |
single nucleotide variant |
Dent disease type 1 [RCV002494275]|not provided [RCV002129815] |
ChrX:50092111 [GRCh38] ChrX:49856768 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.2007T>C (p.Thr669=) |
single nucleotide variant |
not provided [RCV002153302] |
ChrX:50090378 [GRCh38] ChrX:49855035 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.450T>C (p.His150=) |
single nucleotide variant |
not provided [RCV002172329] |
ChrX:50075829 [GRCh38] ChrX:49840484 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1815C>T (p.Ile605=) |
single nucleotide variant |
not provided [RCV002197053] |
ChrX:50090186 [GRCh38] ChrX:49854843 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.420G>A (p.Ser140=) |
single nucleotide variant |
not provided [RCV002181668] |
ChrX:50075799 [GRCh38] ChrX:49840454 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1296C>T (p.Val432=) |
single nucleotide variant |
not provided [RCV002220315] |
ChrX:50086609 [GRCh38] ChrX:49851266 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.2361-13G>T |
single nucleotide variant |
not provided [RCV002202106] |
ChrX:50092116 [GRCh38] ChrX:49856773 [GRCh37] ChrX:Xp11.23 |
likely benign |
NC_000023.10:g.(?_48368209)_(51241672_?)dup |
duplication |
X-linked severe congenital neutropenia [RCV003111119] |
ChrX:48368209..51241672 [GRCh37] ChrX:Xp11.23-11.22 |
uncertain significance |
NM_001127898.4(CLCN5):c.232A>G (p.Ile78Val) |
single nucleotide variant |
not provided [RCV003112614] |
ChrX:50069947 [GRCh38] ChrX:49834602 [GRCh37] ChrX:Xp11.23 |
likely benign |
NC_000023.10:g.(?_46466387)_(50659607_?)del |
deletion |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003116676] |
ChrX:46466387..50659607 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
NC_000023.10:g.(?_48368209)_(51241672_?)del |
deletion |
not provided [RCV003116321] |
ChrX:48368209..51241672 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.1663G>A (p.Val555Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003250838]|not provided [RCV003112986] |
ChrX:50088803 [GRCh38] ChrX:49853460 [GRCh37] ChrX:Xp11.23 |
likely benign |
NC_000023.10:g.(?_49834581)_(49856876_?)del |
deletion |
not provided [RCV003119278] |
ChrX:49834581..49856876 [GRCh37] ChrX:Xp11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.1495T>C (p.Trp499Arg) |
single nucleotide variant |
Dent disease type 1 [RCV003150897]|X-linked recessive nephrolithiasis with renal failure [RCV003150898] |
ChrX:50086808 [GRCh38] ChrX:49851465 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.667del (p.Ala224fs) |
deletion |
Dent disease type 1 [RCV003148277] |
ChrX:50080656 [GRCh38] ChrX:49845313 [GRCh37] ChrX:Xp11.23 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number gain |
46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 |
copy number gain |
Klinefelter syndrome [RCV002282732] |
ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 |
copy number loss |
See cases [RCV002286357] |
ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_001127898.4(CLCN5):c.1474G>A (p.Val492Met) |
single nucleotide variant |
Dent disease type 1 [RCV002273094] |
ChrX:50086787 [GRCh38] ChrX:49851444 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
Single allele |
deletion |
X-linked intellectual disability, Stocco dos Santos type [RCV002287905] |
ChrX:49369600..50447320 [GRCh37] ChrX:Xp11.23-11.22 |
uncertain significance |
Single allele |
deletion |
X-linked intellectual disability, Stocco dos Santos type [RCV002287906] |
ChrX:49375617..52838206 [GRCh37] ChrX:Xp11.23-11.22 |
uncertain significance |
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3 |
copy number gain |
not provided [RCV002474503] |
ChrX:39525562..52832596 [GRCh37] ChrX:Xp11.4-11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.1150T>C (p.Trp384Arg) |
single nucleotide variant |
Dent disease type 1 [RCV002471948] |
ChrX:50086463 [GRCh38] ChrX:49851120 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1004G>T (p.Ser335Ile) |
single nucleotide variant |
not provided [RCV002294915] |
ChrX:50086050 [GRCh38] ChrX:49850707 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.544G>C (p.Glu182Gln) |
single nucleotide variant |
not provided [RCV002303321] |
ChrX:50075923 [GRCh38] ChrX:49840578 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1693G>T (p.Asp565Tyr) |
single nucleotide variant |
not provided [RCV002302392] |
ChrX:50088833 [GRCh38] ChrX:49853490 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1628T>C (p.Met543Thr) |
single nucleotide variant |
Dent disease type 1 [RCV002512472] |
ChrX:50088768 [GRCh38] ChrX:49853425 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1015-1G>A |
single nucleotide variant |
not provided [RCV002861305] |
ChrX:50086327 [GRCh38] ChrX:49850984 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.315+1G>A |
single nucleotide variant |
not provided [RCV002862307] |
ChrX:50070031 [GRCh38] ChrX:49834686 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.2312A>G (p.Asp771Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002752960] |
ChrX:50090838 [GRCh38] ChrX:49855495 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1873G>A (p.Glu625Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002865251] |
ChrX:50090244 [GRCh38] ChrX:49854901 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.401T>C (p.Ile134Thr) |
single nucleotide variant |
not provided [RCV002755822] |
ChrX:50072574 [GRCh38] ChrX:49837229 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.690G>A (p.Val230=) |
single nucleotide variant |
not provided [RCV002862133] |
ChrX:50080680 [GRCh38] ChrX:49845337 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1486A>G (p.Ser496Gly) |
single nucleotide variant |
not provided [RCV002837799] |
ChrX:50086799 [GRCh38] ChrX:49851456 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1042T>C (p.Leu348=) |
single nucleotide variant |
not provided [RCV002730970] |
ChrX:50086355 [GRCh38] ChrX:49851012 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.2417C>G (p.Ala806Gly) |
single nucleotide variant |
not provided [RCV003016007] |
ChrX:50092185 [GRCh38] ChrX:49856842 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.656T>C (p.Leu219Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002739749] |
ChrX:50080646 [GRCh38] ChrX:49845303 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1354A>G (p.Ser452Gly) |
single nucleotide variant |
not provided [RCV002979660] |
ChrX:50086667 [GRCh38] ChrX:49851324 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.584T>G (p.Leu195Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002980192] |
ChrX:50075963 [GRCh38] ChrX:49840618 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2088G>T (p.Arg696=) |
single nucleotide variant |
not provided [RCV002979554] |
ChrX:50090459 [GRCh38] ChrX:49855116 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2090del (p.Glu697fs) |
deletion |
not provided [RCV002979556] |
ChrX:50090461 [GRCh38] ChrX:49855118 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.2358C>T (p.Asn786=) |
single nucleotide variant |
not provided [RCV002795447] |
ChrX:50090884 [GRCh38] ChrX:49855541 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1145C>A (p.Thr382Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002911137] |
ChrX:50086458 [GRCh38] ChrX:49851115 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.507A>G (p.Glu169=) |
single nucleotide variant |
not provided [RCV003079389] |
ChrX:50075886 [GRCh38] ChrX:49840541 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.273T>C (p.Asp91=) |
single nucleotide variant |
not provided [RCV002590457] |
ChrX:50069988 [GRCh38] ChrX:49834643 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.2153G>A (p.Arg718Gln) |
single nucleotide variant |
not provided [RCV002785365] |
ChrX:50090679 [GRCh38] ChrX:49855336 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.329G>A (p.Ser110Asn) |
single nucleotide variant |
not provided [RCV002820940] |
ChrX:50072502 [GRCh38] ChrX:49837157 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.415+12T>C |
single nucleotide variant |
not provided [RCV002953039] |
ChrX:50072600 [GRCh38] ChrX:49837255 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1806A>G (p.Leu602=) |
single nucleotide variant |
not provided [RCV002591617] |
ChrX:50090177 [GRCh38] ChrX:49854834 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1478dup (p.Val494fs) |
duplication |
not provided [RCV002912635] |
ChrX:50086788..50086789 [GRCh38] ChrX:49851445..49851446 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.2131A>G (p.Ile711Val) |
single nucleotide variant |
not provided [RCV003085259] |
ChrX:50090502 [GRCh38] ChrX:49855159 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2421C>T (p.Asn807=) |
single nucleotide variant |
not provided [RCV002890242] |
ChrX:50092189 [GRCh38] ChrX:49856846 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.299G>A (p.Arg100Gln) |
single nucleotide variant |
not provided [RCV002645809] |
ChrX:50070014 [GRCh38] ChrX:49834669 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.688G>C (p.Val230Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002873372]|not provided [RCV003777866] |
ChrX:50080678 [GRCh38] ChrX:49845335 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2249G>A (p.Arg750Gln) |
single nucleotide variant |
not provided [RCV002593749] |
ChrX:50090775 [GRCh38] ChrX:49855432 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.416-16C>T |
single nucleotide variant |
not provided [RCV003056247] |
ChrX:50075779 [GRCh38] ChrX:49840434 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.594C>G (p.Ser198Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002892245]|not provided [RCV003777905] |
ChrX:50075973 [GRCh38] ChrX:49840628 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.934-19T>C |
single nucleotide variant |
not provided [RCV002663765] |
ChrX:50085961 [GRCh38] ChrX:49850618 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1422G>C (p.Glu474Asp) |
single nucleotide variant |
not provided [RCV002700348] |
ChrX:50086735 [GRCh38] ChrX:49851392 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1041A>G (p.Thr347=) |
single nucleotide variant |
not provided [RCV002593580] |
ChrX:50086354 [GRCh38] ChrX:49851011 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.2196C>T (p.Phe732=) |
single nucleotide variant |
not provided [RCV002642468] |
ChrX:50090722 [GRCh38] ChrX:49855379 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.2103T>C (p.Leu701=) |
single nucleotide variant |
not provided [RCV002853441] |
ChrX:50090474 [GRCh38] ChrX:49855131 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1408C>T (p.Leu470Phe) |
single nucleotide variant |
not provided [RCV002812143] |
ChrX:50086721 [GRCh38] ChrX:49851378 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1942C>T (p.His648Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003064485]|not provided [RCV003064484] |
ChrX:50090313 [GRCh38] ChrX:49854970 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.935T>C (p.Val312Ala) |
single nucleotide variant |
not provided [RCV003065878] |
ChrX:50085981 [GRCh38] ChrX:49850638 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.298C>T (p.Arg100Trp) |
single nucleotide variant |
not provided [RCV003061642] |
ChrX:50070013 [GRCh38] ChrX:49834668 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.315+4del |
deletion |
not provided [RCV002898902] |
ChrX:50070033 [GRCh38] ChrX:49834688 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1001dup (p.Ser335fs) |
duplication |
not provided [RCV002899052] |
ChrX:50086045..50086046 [GRCh38] ChrX:49850702..49850703 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.416-18T>C |
single nucleotide variant |
not provided [RCV002937170] |
ChrX:50075777 [GRCh38] ChrX:49840432 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1558-4G>A |
single nucleotide variant |
not provided [RCV002876997] |
ChrX:50088694 [GRCh38] ChrX:49853351 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.2144-17_2144-16insA |
insertion |
not provided [RCV002806208] |
ChrX:50090653..50090654 [GRCh38] ChrX:49855310..49855311 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.2144-16C>T |
single nucleotide variant |
not provided [RCV002806209] |
ChrX:50090654 [GRCh38] ChrX:49855311 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.467_471del (p.Lys156fs) |
deletion |
not provided [RCV002810657] |
ChrX:50075844..50075848 [GRCh38] ChrX:49840499..49840503 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.615C>T (p.Ala205=) |
single nucleotide variant |
CLCN5-related condition [RCV003918906]|not provided [RCV002578999] |
ChrX:50080605 [GRCh38] ChrX:49845262 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.332A>G (p.Lys111Arg) |
single nucleotide variant |
not provided [RCV002577952] |
ChrX:50072505 [GRCh38] ChrX:49837160 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2417C>T (p.Ala806Val) |
single nucleotide variant |
not provided [RCV002582867] |
ChrX:50092185 [GRCh38] ChrX:49856842 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1115G>A (p.Arg372His) |
single nucleotide variant |
not provided [RCV002635891] |
ChrX:50086428 [GRCh38] ChrX:49851085 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.909G>A (p.Arg303=) |
single nucleotide variant |
not provided [RCV002654256] |
ChrX:50081823 [GRCh38] ChrX:49846480 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.2143+7A>G |
single nucleotide variant |
not provided [RCV002603472] |
ChrX:50090521 [GRCh38] ChrX:49855178 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1745-5T>C |
single nucleotide variant |
not provided [RCV002943525] |
ChrX:50090111 [GRCh38] ChrX:49854768 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1141C>T (p.His381Tyr) |
single nucleotide variant |
not provided [RCV003129326] |
ChrX:50086454 [GRCh38] ChrX:49851111 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.506A>T (p.Glu169Val) |
single nucleotide variant |
not provided [RCV002609560] |
ChrX:50075885 [GRCh38] ChrX:49840540 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1898G>A (p.Arg633His) |
single nucleotide variant |
not provided [RCV002583429] |
ChrX:50090269 [GRCh38] ChrX:49854926 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.884T>G (p.Leu295Arg) |
single nucleotide variant |
not provided [RCV003050157] |
ChrX:50081798 [GRCh38] ChrX:49846455 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1976G>A (p.Arg659Gln) |
single nucleotide variant |
not provided [RCV002587766] |
ChrX:50090347 [GRCh38] ChrX:49855004 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NC_000023.10:g.(?_46466387)_(51241672_?)del |
deletion |
not provided [RCV003154905] |
ChrX:46466387..51241672 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.985A>G (p.Ile329Val) |
single nucleotide variant |
not provided [RCV003145033] |
ChrX:50086031 [GRCh38] ChrX:49850688 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1750del (p.Gly583_Val584insTer) |
deletion |
not provided [RCV003136472] |
ChrX:50090118 [GRCh38] ChrX:49854775 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.812C>T (p.Ala271Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003195915] |
ChrX:50081726 [GRCh38] ChrX:49846383 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1745G>A (p.Gly582Asp) |
single nucleotide variant |
Dent disease type 1 [RCV003153012] |
ChrX:50090116 [GRCh38] ChrX:49854773 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.689T>A (p.Val230Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003218156] |
ChrX:50080679 [GRCh38] ChrX:49845336 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.956C>T (p.Ala319Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003216820]|not provided [RCV003779702] |
ChrX:50086002 [GRCh38] ChrX:49850659 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2221C>T (p.Pro741Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003352591]|not provided [RCV003708781] |
ChrX:50090747 [GRCh38] ChrX:49855404 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1448del (p.Gly483fs) |
deletion |
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV003448772] |
ChrX:50086757 [GRCh38] ChrX:49851414 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.1788T>C (p.Phe596=) |
single nucleotide variant |
not provided [RCV003571202] |
ChrX:50090159 [GRCh38] ChrX:49854816 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.743G>A (p.Ser248Asn) |
single nucleotide variant |
not provided [RCV003570078] |
ChrX:50081657 [GRCh38] ChrX:49846314 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1 |
copy number loss |
not provided [RCV003483920] |
ChrX:36355238..54106257 [GRCh37] ChrX:Xp21.1-11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.1162G>A (p.Glu388Lys) |
single nucleotide variant |
not provided [RCV003571704] |
ChrX:50086475 [GRCh38] ChrX:49851132 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3 |
copy number gain |
not provided [RCV003485288] |
ChrX:48224455..52832596 [GRCh37] ChrX:Xp11.23-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 |
copy number loss |
not provided [RCV003483407] |
ChrX:2696762..53113314 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
NM_001127898.4(CLCN5):c.1014+20C>T |
single nucleotide variant |
not provided [RCV003825154] |
ChrX:50086080 [GRCh38] ChrX:49850737 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1844G>A (p.Ser615Asn) |
single nucleotide variant |
CLCN5-related condition [RCV003397449] |
ChrX:50090215 [GRCh38] ChrX:49854872 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.2341T>C (p.Cys781Arg) |
single nucleotide variant |
CLCN5-related condition [RCV003397589] |
ChrX:50090867 [GRCh38] ChrX:49855524 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1933G>T (p.Glu645Ter) |
single nucleotide variant |
CLCN5-related condition [RCV003393020] |
ChrX:50090304 [GRCh38] ChrX:49854961 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.2199G>A (p.Thr733=) |
single nucleotide variant |
not specified [RCV003388392] |
ChrX:50090725 [GRCh38] ChrX:49855382 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1517_1518dup (p.Leu507fs) |
duplication |
Dent disease type 1 [RCV003388753] |
ChrX:50086828..50086829 [GRCh38] ChrX:49851485..49851486 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.315G>A (p.Glu105=) |
single nucleotide variant |
Dent disease type 1 [RCV003454386] |
ChrX:50070030 [GRCh38] ChrX:49834685 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.526G>A (p.Glu176Lys) |
single nucleotide variant |
not provided [RCV003830013] |
ChrX:50075905 [GRCh38] ChrX:49840560 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1043T>A (p.Leu348Ter) |
single nucleotide variant |
not provided [RCV003576961] |
ChrX:50086356 [GRCh38] ChrX:49851013 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1557+11C>G |
single nucleotide variant |
not provided [RCV003692607] |
ChrX:50086881 [GRCh38] ChrX:49851538 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1726G>C (p.Gly576Arg) |
single nucleotide variant |
not provided [RCV003714339] |
ChrX:50088866 [GRCh38] ChrX:49853523 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.315+19C>T |
single nucleotide variant |
not provided [RCV003824453] |
ChrX:50070049 [GRCh38] ChrX:49834704 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.933+9G>T |
single nucleotide variant |
not provided [RCV003689181] |
ChrX:50081856 [GRCh38] ChrX:49846513 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1413_1414del (p.Cys471_Asp472delinsTer) |
microsatellite |
not provided [RCV003713780] |
ChrX:50086724..50086725 [GRCh38] ChrX:49851381..49851382 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.379G>A (p.Gly127Ser) |
single nucleotide variant |
not provided [RCV003662487] |
ChrX:50072552 [GRCh38] ChrX:49837207 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1950C>A (p.Thr650=) |
single nucleotide variant |
CLCN5-related condition [RCV003909160]|not provided [RCV003811910] |
ChrX:50090321 [GRCh38] ChrX:49854978 [GRCh37] ChrX:Xp11.23 |
benign|likely benign |
NM_001127898.4(CLCN5):c.378C>T (p.Ser126=) |
single nucleotide variant |
not provided [RCV003698336] |
ChrX:50072551 [GRCh38] ChrX:49837206 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.2097A>G (p.Gln699=) |
single nucleotide variant |
not provided [RCV003699545] |
ChrX:50090468 [GRCh38] ChrX:49855125 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.450T>A (p.His150Gln) |
single nucleotide variant |
not provided [RCV003673739] |
ChrX:50075829 [GRCh38] ChrX:49840484 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.604-1G>C |
single nucleotide variant |
not provided [RCV003700095] |
ChrX:50080593 [GRCh38] ChrX:49845250 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.934-18C>G |
single nucleotide variant |
not provided [RCV003666001] |
ChrX:50085962 [GRCh38] ChrX:49850619 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1423A>G (p.Asn475Asp) |
single nucleotide variant |
not provided [RCV003549312] |
ChrX:50086736 [GRCh38] ChrX:49851393 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2086C>T (p.Arg696Trp) |
single nucleotide variant |
not provided [RCV003671019] |
ChrX:50090457 [GRCh38] ChrX:49855114 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1662C>T (p.Thr554=) |
single nucleotide variant |
not provided [RCV003835917] |
ChrX:50088802 [GRCh38] ChrX:49853459 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.2360+1G>T |
single nucleotide variant |
not provided [RCV003560250] |
ChrX:50090887 [GRCh38] ChrX:49855544 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1353A>G (p.Thr451=) |
single nucleotide variant |
not provided [RCV003814602] |
ChrX:50086666 [GRCh38] ChrX:49851323 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.726+18G>A |
single nucleotide variant |
not provided [RCV003854738] |
ChrX:50080734 [GRCh38] ChrX:49845391 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1829C>G (p.Ala610Gly) |
single nucleotide variant |
not provided [RCV003672551] |
ChrX:50090200 [GRCh38] ChrX:49854857 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.415+7T>C |
single nucleotide variant |
not provided [RCV003659368] |
ChrX:50072595 [GRCh38] ChrX:49837250 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.326A>G (p.Lys109Arg) |
single nucleotide variant |
not provided [RCV003673007] |
ChrX:50072499 [GRCh38] ChrX:49837154 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.859G>A (p.Val287Met) |
single nucleotide variant |
not provided [RCV003836418] |
ChrX:50081773 [GRCh38] ChrX:49846430 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1748G>A (p.Gly583Glu) |
single nucleotide variant |
not provided [RCV003560248] |
ChrX:50090119 [GRCh38] ChrX:49854776 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2095C>T (p.Gln699Ter) |
single nucleotide variant |
not provided [RCV003560249] |
ChrX:50090466 [GRCh38] ChrX:49855123 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1139T>A (p.Phe380Tyr) |
single nucleotide variant |
not provided [RCV003567184] |
ChrX:50086452 [GRCh38] ChrX:49851109 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.524_525del (p.Asn174_Ser175insTer) |
microsatellite |
not provided [RCV003541812] |
ChrX:50075901..50075902 [GRCh38] ChrX:49840556..49840557 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1692T>G (p.Ala564=) |
single nucleotide variant |
not provided [RCV003680361] |
ChrX:50088832 [GRCh38] ChrX:49853489 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1131del (p.Phe376_Tyr377insTer) |
deletion |
not provided [RCV003676757] |
ChrX:50086444 [GRCh38] ChrX:49851101 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.1185G>A (p.Leu395=) |
single nucleotide variant |
not provided [RCV003727516] |
ChrX:50086498 [GRCh38] ChrX:49851155 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1958T>C (p.Met653Thr) |
single nucleotide variant |
not provided [RCV003552854] |
ChrX:50090329 [GRCh38] ChrX:49854986 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1274A>G (p.Tyr425Cys) |
single nucleotide variant |
not provided [RCV003682652] |
ChrX:50086587 [GRCh38] ChrX:49851244 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1889C>A (p.Ala630Asp) |
single nucleotide variant |
not provided [RCV003705144] |
ChrX:50090260 [GRCh38] ChrX:49854917 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) |
copy number loss |
not specified [RCV003986200] |
ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) |
copy number loss |
not specified [RCV003986240] |
ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
NM_001127898.4(CLCN5):c.1654G>A (p.Glu552Lys) |
single nucleotide variant |
not provided [RCV003721538] |
ChrX:50088794 [GRCh38] ChrX:49853451 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.933+1G>A |
single nucleotide variant |
not provided [RCV003565894] |
ChrX:50081848 [GRCh38] ChrX:49846505 [GRCh37] ChrX:Xp11.23 |
pathogenic |
NM_001127898.4(CLCN5):c.746G>T (p.Gly249Val) |
single nucleotide variant |
Dent disease type 1 [RCV003986004] |
ChrX:50081660 [GRCh38] ChrX:49846317 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |
NM_001127898.4(CLCN5):c.549A>G (p.Arg183=) |
single nucleotide variant |
not provided [RCV003685773] |
ChrX:50075928 [GRCh38] ChrX:49840583 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1015-7C>G |
single nucleotide variant |
not provided [RCV003708009] |
ChrX:50086321 [GRCh38] ChrX:49850978 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.640G>A (p.Val214Ile) |
single nucleotide variant |
not provided [RCV003721610] |
ChrX:50080630 [GRCh38] ChrX:49845287 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.604-8T>C |
single nucleotide variant |
not provided [RCV003731719] |
ChrX:50080586 [GRCh38] ChrX:49845243 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1881C>A (p.Ile627=) |
single nucleotide variant |
not provided [RCV003853759] |
ChrX:50090252 [GRCh38] ChrX:49854909 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.2234C>G (p.Pro745Arg) |
single nucleotide variant |
not provided [RCV003681081] |
ChrX:50090760 [GRCh38] ChrX:49855417 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2169G>T (p.Gly723=) |
single nucleotide variant |
not provided [RCV003858108] |
ChrX:50090695 [GRCh38] ChrX:49855352 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.1604C>G (p.Ala535Gly) |
single nucleotide variant |
not provided [RCV003819664] |
ChrX:50088744 [GRCh38] ChrX:49853401 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1442A>G (p.Lys481Arg) |
single nucleotide variant |
not provided [RCV003823881] |
ChrX:50086755 [GRCh38] ChrX:49851412 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.417T>A (p.Gly139=) |
single nucleotide variant |
not provided [RCV003670759] |
ChrX:50075796 [GRCh38] ChrX:49840451 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.342A>G (p.Thr114=) |
single nucleotide variant |
not provided [RCV003553211] |
ChrX:50072515 [GRCh38] ChrX:49837170 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.315+19dup |
duplication |
not provided [RCV003866294] |
ChrX:50070048..50070049 [GRCh38] ChrX:49834703..49834704 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.738C>A (p.Ile246=) |
single nucleotide variant |
not provided [RCV003854056] |
ChrX:50081652 [GRCh38] ChrX:49846309 [GRCh37] ChrX:Xp11.23 |
likely benign |
NM_001127898.4(CLCN5):c.853G>C (p.Val285Leu) |
single nucleotide variant |
not provided [RCV003675139] |
ChrX:50081767 [GRCh38] ChrX:49846424 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.346G>A (p.Ala116Thr) |
single nucleotide variant |
not provided [RCV003565257] |
ChrX:50072519 [GRCh38] ChrX:49837174 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.2203C>T (p.His735Tyr) |
single nucleotide variant |
not provided [RCV003860223] |
ChrX:50090729 [GRCh38] ChrX:49855386 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.1758G>A (p.Arg586=) |
single nucleotide variant |
not provided [RCV003821533] |
ChrX:50090129 [GRCh38] ChrX:49854786 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.1282A>C (p.Ile428Leu) |
single nucleotide variant |
CLCN5-related condition [RCV003893605] |
ChrX:50086595 [GRCh38] ChrX:49851252 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.95A>G (p.Asp32Gly) |
single nucleotide variant |
CLCN5-related condition [RCV003956659] |
ChrX:50042394 [GRCh38] ChrX:49807003 [GRCh37] ChrX:Xp11.23 |
benign |
NM_001127898.4(CLCN5):c.2038A>T (p.Thr680Ser) |
single nucleotide variant |
CLCN5-related condition [RCV003943989] |
ChrX:50090409 [GRCh38] ChrX:49855066 [GRCh37] ChrX:Xp11.23 |
uncertain significance |
NM_001127898.4(CLCN5):c.776G>A (p.Trp259Ter) |
single nucleotide variant |
Dent disease type 1 [RCV003340975] |
ChrX:50081690 [GRCh38] ChrX:49846347 [GRCh37] ChrX:Xp11.23 |
likely pathogenic |