NM_002764.4(PRPS1):c.336T>C (p.Val112=) |
single nucleotide variant |
Inborn genetic diseases [RCV002451734] |
ChrX:107640931 [GRCh38] ChrX:106884161 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) |
single nucleotide variant |
Arts syndrome [RCV000020488]|Arts syndrome [RCV002490397]|Charcot-Marie-Tooth Neuropathy X [RCV000551005]|Hearing loss, X-linked 1 [RCV000337089]|History of neurodevelopmental disorder [RCV000721097]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000351270]|not provided [RCV001727515]|not specified [RCV000440183] |
ChrX:107642407 [GRCh38] ChrX:106885637 [GRCh37] ChrX:Xq22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser) |
single nucleotide variant |
Arts syndrome [RCV001328985]|Inborn genetic diseases [RCV000622306]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000010606] |
ChrX:107640936 [GRCh38] ChrX:106884166 [GRCh37] ChrX:Xq22.3 |
pathogenic|likely pathogenic |
NM_002764.4(PRPS1):c.547G>C (p.Asp183His) |
single nucleotide variant |
Arts syndrome [RCV003147280]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000010607] |
ChrX:107645193 [GRCh38] ChrX:106888423 [GRCh37] ChrX:Xq22.3 |
pathogenic|likely pathogenic |
NM_002764.4(PRPS1):c.154G>C (p.Asp52His) |
single nucleotide variant |
Phosphoribosylpyrophosphate synthetase superactivity [RCV000010608] |
ChrX:107639326 [GRCh38] ChrX:106882556 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.385C>A (p.Leu129Ile) |
single nucleotide variant |
Phosphoribosylpyrophosphate synthetase superactivity [RCV000010609] |
ChrX:107640980 [GRCh38] ChrX:106884210 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.569C>T (p.Ala190Val) |
single nucleotide variant |
Phosphoribosylpyrophosphate synthetase superactivity [RCV000010610] |
ChrX:107645215 [GRCh38] ChrX:106888445 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.579C>G (p.His193Gln) |
single nucleotide variant |
Phosphoribosylpyrophosphate synthetase superactivity [RCV000010611] |
ChrX:107645225 [GRCh38] ChrX:106888455 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp) |
single nucleotide variant |
Charcot-Marie-Tooth disease X-linked recessive 5 [RCV000010612] |
ChrX:107639301 [GRCh38] ChrX:106882531 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV000695028]|Charcot-Marie-Tooth disease X-linked recessive 5 [RCV000010613] |
ChrX:107640939 [GRCh38] ChrX:106884169 [GRCh37] ChrX:Xq22.3 |
pathogenic|likely pathogenic |
NM_002764.4(PRPS1):c.455T>C (p.Leu152Pro) |
single nucleotide variant |
Arts syndrome [RCV000010614]|not provided [RCV000178182] |
ChrX:107642415 [GRCh38] ChrX:106885645 [GRCh37] ChrX:Xq22.3 |
pathogenic|uncertain significance |
NM_002764.4(PRPS1):c.398A>C (p.Gln133Pro) |
single nucleotide variant |
Arts syndrome [RCV000010615] |
ChrX:107640993 [GRCh38] ChrX:106884223 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn) |
single nucleotide variant |
Hearing loss, X-linked 1 [RCV000010616] |
ChrX:107639365 [GRCh38] ChrX:106882595 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001851782]|Hearing loss, X-linked 1 [RCV000010617] |
ChrX:107639431 [GRCh38] ChrX:106882661 [GRCh37] ChrX:Xq22.3 |
pathogenic|uncertain significance |
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg) |
single nucleotide variant |
Hearing loss, X-linked 1 [RCV000010618] |
ChrX:107649991 [GRCh38] ChrX:106893221 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr) |
single nucleotide variant |
Hearing loss, X-linked 1 [RCV000010619] |
ChrX:107649944 [GRCh38] ChrX:106893174 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.762C>T (p.Ser254=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001494987] |
ChrX:107647663 [GRCh38] ChrX:106890893 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.864+9G>C |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001494183] |
ChrX:107647774 [GRCh38] ChrX:106891004 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.301G>A (p.Asp101Asn) |
single nucleotide variant |
not provided [RCV000523068] |
ChrX:107639473 [GRCh38] ChrX:106882703 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.424G>C (p.Val142Leu) |
single nucleotide variant |
Arts syndrome [RCV000022882] |
ChrX:107642384 [GRCh38] ChrX:106885614 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.362C>G (p.Ala121Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease X-linked recessive 5 [RCV000087131] |
ChrX:107640957 [GRCh38] ChrX:106884187 [GRCh37] ChrX:Xq22.3 |
pathogenic |
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 Xp11.21-q28(chrX:57372584-155996431)x1 |
copy number loss |
See cases [RCV000051665] |
ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 |
copy number loss |
See cases [RCV000051666] |
ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 |
copy number loss |
See cases [RCV000051668] |
ChrX:77544283..110500317 [GRCh38] ChrX:76799762..109743545 [GRCh37] ChrX:76686418..109630201 [NCBI36] ChrX:Xq21.1-23 |
pathogenic |
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 |
copy number loss |
See cases [RCV000051713] |
ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716] |
ChrX:102070552..108264804 [GRCh38] ChrX:101325524..107508034 [GRCh37] ChrX:101212180..107394690 [NCBI36] ChrX:Xq22.1-22.3 |
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 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: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 Xq13.2-27.1(chrX:73008114-140201321)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] |
ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1 |
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 Xq21.1-25(chrX:81261589-126519353)x3 |
copy number gain |
See cases [RCV000052438] |
ChrX:81261589..126519353 [GRCh38] ChrX:80517088..125653336 [GRCh37] ChrX:80403744..125481017 [NCBI36] ChrX:Xq21.1-25 |
pathogenic |
GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3 |
copy number gain |
See cases [RCV000052441] |
ChrX:101620923..107632397 [GRCh38] ChrX:100875913..106875627 [GRCh37] ChrX:100762569..106762283 [NCBI36] ChrX:Xq22.1-22.3 |
pathogenic |
GRCh38/hg38 Xq22.3(chrX:107523862-108265579)x3 |
copy number gain |
See cases [RCV000052443] |
ChrX:107523862..108265579 [GRCh38] ChrX:106767092..107508809 [GRCh37] ChrX:106653748..107395465 [NCBI36] ChrX:Xq22.3 |
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-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-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 |
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) |
single nucleotide variant |
Arts syndrome [RCV000308646]|Arts syndrome [RCV002498407]|Charcot-Marie-Tooth Neuropathy X [RCV000204144]|Charcot-Marie-Tooth disease X-linked recessive 5 [RCV001789127]|Hearing loss, X-linked 1 [RCV000362584]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000402522]|not provided [RCV001664331]|not specified [RCV000080032] |
ChrX:107642437 [GRCh38] ChrX:106885667 [GRCh37] ChrX:Xq22.3 |
benign|likely benign|uncertain significance |
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_002764.4(PRPS1):c.337G>T (p.Ala113Ser) |
single nucleotide variant |
Hearing loss, X-linked 1 [RCV000143857] |
ChrX:107640932 [GRCh38] ChrX:106884162 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.343A>G (p.Met115Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease X-linked recessive 5 [RCV000143859]|Hearing loss, X-linked 1 [RCV000143858] |
ChrX:107640938 [GRCh38] ChrX:106884168 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.925G>T (p.Val309Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease X-linked recessive 5 [RCV000143860] |
ChrX:107650000 [GRCh38] ChrX:106893230 [GRCh37] ChrX:Xq22.3 |
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-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 Xq21.1-28(chrX:85123740-156022206)x3 |
copy number gain |
See cases [RCV000133744] |
ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28 |
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 Xq21.1-28(chrX:78605009-156016560)x1 |
copy number loss |
See cases [RCV000134570] |
ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28 |
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 Xq11.1-28(chrX:62712230-155978888)x3 |
copy number gain |
See cases [RCV000134025] |
ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
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 |
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 Xq21.31-28(chrX:92222680-156016920)x1 |
copy number loss |
See cases [RCV000135307] |
ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 |
copy number loss |
See cases [RCV000134958] |
ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
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 Xq21.1-28(chrX:77369933-156013167)x1 |
copy number loss |
See cases [RCV000135454] |
ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28 |
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 Xq21.33-28(chrX:94462929-156001635)x3 |
copy number gain |
See cases [RCV000136552] |
ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28 |
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 Xq22.1-23(chrX:100597687-111651116)x4 |
copy number gain |
See cases [RCV000136029] |
ChrX:100597687..111651116 [GRCh38] ChrX:99852684..110894344 [GRCh37] ChrX:99739340..110781000 [NCBI36] ChrX:Xq22.1-23 |
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 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 Xq21.1-28(chrX:79093152-156003229)x1 |
copy number loss |
See cases [RCV000136083] |
ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 |
copy number loss |
See cases [RCV000137113] |
ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
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 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 Xq22.1-28(chrX:102197284-156003242)x1 |
copy number loss |
See cases [RCV000137415] |
ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 |
copy number gain |
See cases [RCV000137553] |
ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 |
copy number loss |
See cases [RCV000137138] |
ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 |
copy number gain |
See cases [RCV000138020] |
ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 |
copy number loss |
See cases [RCV000137887] |
ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28 |
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 Xq21.1-28(chrX:79911061-156003229)x1 |
copy number loss |
See cases [RCV000138787] |
ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 |
copy number loss |
See cases [RCV000138541] |
ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28 |
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 Xq21.1-28(chrX:82211310-156003229)x1 |
copy number loss |
See cases [RCV000139400] |
ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 |
copy number loss |
See cases [RCV000139351] |
ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28 |
pathogenic|likely benign |
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 |
copy number gain |
See cases [RCV000139416] |
ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 |
copy number gain |
See cases [RCV000139204] |
ChrX:93591590..112530092 [GRCh38] ChrX:92846589..111773320 [GRCh37] ChrX:92733245..111659976 [NCBI36] ChrX:Xq21.32-23 |
pathogenic |
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 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-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 Xq21.1-28(chrX:82096719-156004066)x1 |
copy number loss |
See cases [RCV000141825] |
ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 |
copy number loss |
See cases [RCV000142016] |
ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) |
copy number loss |
See cases [RCV000141742] |
ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24 |
pathogenic |
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 |
copy number loss |
See cases [RCV000142372] |
ChrX:81109470..109442793 [GRCh38] ChrX:80364969..108686022 [GRCh37] ChrX:80251625..108572678 [NCBI36] ChrX:Xq21.1-23 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 |
copy number loss |
See cases [RCV000142337] |
ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 |
copy number loss |
See cases [RCV000142037] |
ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28 |
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 Xq22.3-28(chrX:106722296-156004066)x1 |
copy number loss |
See cases [RCV000142190] |
ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28 |
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 Xq13.2-28(chrX:74684615-156004066)x1 |
copy number loss |
See cases [RCV000143424] |
ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 |
copy number loss |
See cases [RCV000143349] |
ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-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-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 Xq13.3-28(chrX:76557425-156004066)x1 |
copy number loss |
See cases [RCV000143132] |
ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) |
single nucleotide variant |
Arts syndrome [RCV000393656]|Charcot-Marie-Tooth Neuropathy X [RCV001084842]|Hearing loss, X-linked 1 [RCV000393649]|History of neurodevelopmental disorder [RCV000720978]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000283249]|not provided [RCV000757690]|not specified [RCV000151682] |
ChrX:107642416 [GRCh38] ChrX:106885646 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
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 |
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 |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 |
copy number gain |
See cases [RCV000240143] |
ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28 |
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 |
GRCh37/hg19 Xq22.3(chrX:106791412-107059976)x3 |
copy number gain |
See cases [RCV000240159] |
ChrX:106791412..107059976 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
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 |
NM_002764.4(PRPS1):c.864+10A>G |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001519913]|not specified [RCV000219582] |
ChrX:107647775 [GRCh38] ChrX:106891005 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_002764.4(PRPS1):c.247A>T (p.Ser83Cys) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV000654845]|not provided [RCV000217138] |
ChrX:107639419 [GRCh38] ChrX:106882649 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro) |
single nucleotide variant |
Arts syndrome [RCV000208743]|Hearing loss, X-linked 1 [RCV000208721] |
ChrX:107647731 [GRCh38] ChrX:106890961 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.46T>C (p.Ser16Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease X-linked recessive 5 [RCV000208733] |
ChrX:107628674 [GRCh38] ChrX:106871904 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.942C>T (p.Ser314=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV000474888]|Inborn genetic diseases [RCV002444856]|not provided [RCV001200509]|not specified [RCV000222584] |
ChrX:107650017 [GRCh38] ChrX:106893247 [GRCh37] ChrX:Xq22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 |
copy number loss |
Premature ovarian failure [RCV000225336] |
ChrX:99931059..120328627 [GRCh37] ChrX:Xq22.1-24 |
pathogenic |
NM_002764.4(PRPS1):c.876C>T (p.Ile292=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV000229280]|not provided [RCV001636733] |
ChrX:107649951 [GRCh38] ChrX:106893181 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.319A>G (p.Ile107Val) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001319152]|not provided [RCV000235705] |
ChrX:107640914 [GRCh38] ChrX:106884144 [GRCh37] ChrX:Xq22.3 |
likely pathogenic|uncertain significance |
NM_002764.4(PRPS1):c.361G>A (p.Ala121Thr) |
single nucleotide variant |
not provided [RCV000236738] |
ChrX:107640956 [GRCh38] ChrX:106884186 [GRCh37] ChrX:Xq22.3 |
likely 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:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [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:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 |
copy number gain |
See cases [RCV000511307] |
ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-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 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 Xq11.1-28(chrX:62063537-155250222)x3 |
copy number gain |
See cases [RCV000240148] |
ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28 |
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_002764.4(PRPS1):c.*725T>C |
single nucleotide variant |
Arts syndrome [RCV000349093]|Hearing loss, X-linked 1 [RCV000384374]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000291842] |
ChrX:107650757 [GRCh38] ChrX:106893987 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_002764.3(PRPS1):c.-153delG |
deletion |
Arts syndrome [RCV000325171]|Charcot-Marie-Tooth, X-linked [RCV000359974]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000270057]|X-linked nonsyndromic hearing loss [RCV002223132] |
ChrX:107628476 [GRCh38] ChrX:106871706 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.444G>A (p.Glu148=) |
single nucleotide variant |
Arts syndrome [RCV000271803]|Charcot-Marie-Tooth Neuropathy X [RCV000870451]|Hearing loss, X-linked 1 [RCV000296329]|Inborn genetic diseases [RCV002328895]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000386019] |
ChrX:107642404 [GRCh38] ChrX:106885634 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_002764.4(PRPS1):c.*88C>T |
single nucleotide variant |
Arts syndrome [RCV000368028]|Hearing loss, X-linked 1 [RCV000333212]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000273461] |
ChrX:107650120 [GRCh38] ChrX:106893350 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.*389G>C |
single nucleotide variant |
Arts syndrome [RCV000367849]|Hearing loss, X-linked 1 [RCV000314394]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000313159] |
ChrX:107650421 [GRCh38] ChrX:106893651 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.*166G>A |
single nucleotide variant |
Arts syndrome [RCV000322205]|Hearing loss, X-linked 1 [RCV000287026]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000341919] |
ChrX:107650198 [GRCh38] ChrX:106893428 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.*178G>A |
single nucleotide variant |
Arts syndrome [RCV000288158]|Hearing loss, X-linked 1 [RCV000347733]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000407006] |
ChrX:107650210 [GRCh38] ChrX:106893440 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_002764.4(PRPS1):c.*762G>T |
single nucleotide variant |
Arts syndrome [RCV000295229]|Hearing loss, X-linked 1 [RCV000387246]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000352475] |
ChrX:107650794 [GRCh38] ChrX:106894024 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.*538G>C |
single nucleotide variant |
Arts syndrome [RCV000358765]|Hearing loss, X-linked 1 [RCV000260234]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000355125] |
ChrX:107650570 [GRCh38] ChrX:106893800 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.*159G>A |
single nucleotide variant |
Arts syndrome [RCV000375137]|Hearing loss, X-linked 1 [RCV000260549]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000315849] |
ChrX:107650191 [GRCh38] ChrX:106893421 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.*938dup |
duplication |
Arts syndrome [RCV000408417]|Charcot-Marie-Tooth, X-linked [RCV000301980]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000337290]|X-linked nonsyndromic hearing loss [RCV002223133] |
ChrX:107650964..107650965 [GRCh38] ChrX:106894194..106894195 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.*538G>T |
single nucleotide variant |
Arts syndrome [RCV000263927]|Hearing loss, X-linked 1 [RCV000323892]|Phosphoribosylpyrophosphate synthetase superactivity [RCV000288766] |
ChrX:107650570 [GRCh38] ChrX:106893800 [GRCh37] ChrX:Xq22.3 |
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_002764.4(PRPS1):c.640C>T (p.Arg214Trp) |
single nucleotide variant |
Arts syndrome [RCV001542719]|Charcot-Marie-Tooth Neuropathy X [RCV001865690]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001196872]|Retinal dystrophy [RCV000590916]|Retinal dystrophy [RCV001075877] |
ChrX:107645286 [GRCh38] ChrX:106888516 [GRCh37] ChrX:Xq22.3 |
pathogenic|likely pathogenic |
NM_002764.4(PRPS1):c.47C>T (p.Ser16Phe) |
single nucleotide variant |
Retinal dystrophy [RCV000590944] |
ChrX:107628675 [GRCh38] ChrX:106871905 [GRCh37] ChrX:Xq22.3 |
likely pathogenic |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_002764.4(PRPS1):c.92del (p.Val31fs) |
deletion |
not provided [RCV000599589] |
ChrX:107628720 [GRCh38] ChrX:106871950 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
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 Xq21.33-28(chrX:94043221-155246585)x1 |
copy number loss |
See cases [RCV000449365] |
ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 |
copy number gain |
See cases [RCV000446318] |
ChrX:95498487..129063677 [GRCh37] ChrX:Xq21.33-26.1 |
pathogenic |
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 |
copy number gain |
See cases [RCV000446471] |
ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28 |
pathogenic |
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-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
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 Xq13.3-28(chrX:74787886-155233731)x1 |
copy number loss |
See cases [RCV000447490] |
ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 |
copy number gain |
See cases [RCV000446151] |
ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28 |
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 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:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_002764.4(PRPS1):c.177T>A (p.Gly59=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001414907]|Inborn genetic diseases [RCV002402174]|not specified [RCV000428486] |
ChrX:107639349 [GRCh38] ChrX:106882579 [GRCh37] ChrX:Xq22.3 |
likely benign |
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 |
copy number loss |
See cases [RCV000445891] |
ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
NM_002764.4(PRPS1):c.705-6C>T |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV000863918]|Inborn genetic diseases [RCV002374719]|not provided [RCV001696781]|not specified [RCV000433153] |
ChrX:107647600 [GRCh38] ChrX:106890830 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_002764.4(PRPS1):c.288G>A (p.Arg96=) |
single nucleotide variant |
Arts syndrome [RCV002502521]|Charcot-Marie-Tooth Neuropathy X [RCV000867248]|Inborn genetic diseases [RCV002436277]|not provided [RCV001703725] |
ChrX:107639460 [GRCh38] ChrX:106882690 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 |
copy number loss |
See cases [RCV000448870] |
ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-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 Xq13.2-27.1(chrX:72224362-139262228)x4 |
copy number gain |
See cases [RCV000448394] |
ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1 |
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 Xq22.2-23(chrX:103158718-111556067)x2 |
copy number gain |
See cases [RCV000448592] |
ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23 |
pathogenic |
NM_002764.4(PRPS1):c.123-16dup |
duplication |
Arts syndrome [RCV002489166]|Charcot-Marie-Tooth Neuropathy X [RCV002063802]|not specified [RCV000480712] |
ChrX:107639276..107639277 [GRCh38] ChrX:106882506..106882507 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_002764.4(PRPS1):c.-45AGC[3] |
microsatellite |
not specified [RCV000481562] |
ChrX:107628581..107628582 [GRCh38] ChrX:106871811..106871812 [GRCh37] ChrX:Xq22.3 |
likely benign |
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 Xp11.21-q28(chrX:55000501-155230750)x3 |
copy number gain |
See cases [RCV000511787] |
ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_002764.4(PRPS1):c.779G>A (p.Arg260His) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001359465]|not provided [RCV000494382] |
ChrX:107647680 [GRCh38] ChrX:106890910 [GRCh37] ChrX:Xq22.3 |
pathogenic|uncertain significance |
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 |
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 |
copy number loss |
See cases [RCV000511514] |
ChrX:86776682..114054291 [GRCh37] ChrX:Xq21.31-23 |
pathogenic|uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 |
copy number loss |
See cases [RCV000511482] |
ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
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 Xq21.31-28(chrX:86900388-155233731)x1 |
copy number loss |
See cases [RCV000511490] |
ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 |
copy number gain |
See cases [RCV000510826] |
ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq22.3(chrX:106344740-107015682)x2 |
copy number gain |
See cases [RCV000511210] |
ChrX:106344740..107015682 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 |
copy number loss |
See cases [RCV000510820] |
ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) |
copy number loss |
See cases [RCV000510947] |
ChrX:74560735..116609286 [GRCh37] ChrX:Xq13.3-24 |
pathogenic |
NM_002764.4(PRPS1):c.456A>C (p.Leu152=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001396651]|Inborn genetic diseases [RCV002341482] |
ChrX:107642416 [GRCh38] ChrX:106885646 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.586C>T (p.Arg196Trp) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001857876]|Retinal dystrophy [RCV000590871]|not provided [RCV002466527] |
ChrX:107645232 [GRCh38] ChrX:106888462 [GRCh37] ChrX:Xq22.3 |
pathogenic|likely pathogenic |
NM_002764.4(PRPS1):c.307-2A>G |
single nucleotide variant |
Inborn genetic diseases [RCV000623501] |
ChrX:107640900 [GRCh38] ChrX:106884130 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.530+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV000624323] |
ChrX:107642491 [GRCh38] ChrX:106885721 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.573G>A (p.Leu191=) |
single nucleotide variant |
Arts syndrome [RCV002498913]|Charcot-Marie-Tooth Neuropathy X [RCV000654856]|Inborn genetic diseases [RCV002350464]|not provided [RCV001726258]|not specified [RCV000610806] |
ChrX:107645219 [GRCh38] ChrX:106888449 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_002764.4(PRPS1):c.60T>C (p.Ala20=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV000654855]|Inborn genetic diseases [RCV002358897] |
ChrX:107628688 [GRCh38] ChrX:106871918 [GRCh37] ChrX:Xq22.3 |
likely benign |
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 |
copy number gain |
See cases [RCV000512365] |
ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28 |
uncertain significance |
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 |
copy number loss |
See cases [RCV000512372] |
ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
NM_002764.4(PRPS1):c.641G>C (p.Arg214Pro) |
single nucleotide variant |
Retinal dystrophy [RCV000590950] |
ChrX:107645287 [GRCh38] ChrX:106888517 [GRCh37] ChrX:Xq22.3 |
likely pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 |
copy number gain |
See cases [RCV000512173] |
ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 |
copy number loss |
not provided [RCV000684357] |
ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 |
copy number loss |
not provided [RCV000684363] |
ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
NC_000023.10:g.(?_106871839)_(106893282_?)dup |
duplication |
Charcot-Marie-Tooth Neuropathy X [RCV000707764] |
ChrX:107628609..107650052 [GRCh38] ChrX:106871839..106893282 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
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 Xq13.2-28(chrX:73472626-155254881)x1 |
copy number loss |
not provided [RCV000753606] |
ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28 |
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 |
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:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 |
copy number loss |
not provided [RCV000753556] |
ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_002764.4(PRPS1):c.720C>T (p.Gly240=) |
single nucleotide variant |
Arts syndrome [RCV001167812]|Charcot-Marie-Tooth Neuropathy X [RCV000869476]|Hearing loss, X-linked 1 [RCV001169684]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001169683] |
ChrX:107647621 [GRCh38] ChrX:106890851 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
NM_002764.4(PRPS1):c.705-135_705-131del |
deletion |
not provided [RCV001709771] |
ChrX:107647468..107647472 [GRCh38] ChrX:106890698..106890702 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.752G>A (p.Gly251Glu) |
single nucleotide variant |
not provided [RCV003238943] |
ChrX:107647653 [GRCh38] ChrX:106890883 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.864+61G>A |
single nucleotide variant |
not provided [RCV001581461] |
ChrX:107647826 [GRCh38] ChrX:106891056 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.*389G>A |
single nucleotide variant |
Arts syndrome [RCV001167289]|Hearing loss, X-linked 1 [RCV001167287]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001167288] |
ChrX:107650421 [GRCh38] ChrX:106893651 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.732T>G (p.Val244=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001058002] |
ChrX:107647633 [GRCh38] ChrX:106890863 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.530+10A>G |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV000920365] |
ChrX:107642500 [GRCh38] ChrX:106885730 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.78G>A (p.Glu26=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001502402] |
ChrX:107628706 [GRCh38] ChrX:106871936 [GRCh37] ChrX:Xq22.3 |
likely benign |
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 |
copy number loss |
not provided [RCV001007318] |
ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_002764.4(PRPS1):c.25G>C (p.Gly9Arg) |
single nucleotide variant |
not provided [RCV000995994] |
ChrX:107628653 [GRCh38] ChrX:106871883 [GRCh37] ChrX:Xq22.3 |
likely pathogenic |
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 |
copy number loss |
not provided [RCV000846958] |
ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
NM_002764.4(PRPS1):c.900C>T (p.Ile300=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001493975] |
ChrX:107649975 [GRCh38] ChrX:106893205 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.567T>C (p.Phe189=) |
single nucleotide variant |
not provided [RCV000898799] |
ChrX:107645213 [GRCh38] ChrX:106888443 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.924C>T (p.Ser308=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV000874794] |
ChrX:107649999 [GRCh38] ChrX:106893229 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.870T>C (p.Ile290=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV000866607] |
ChrX:107649945 [GRCh38] ChrX:106893175 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.531-74C>T |
single nucleotide variant |
not provided [RCV000835688] |
ChrX:107645103 [GRCh38] ChrX:106888333 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.122+254C>T |
single nucleotide variant |
not provided [RCV000832736] |
ChrX:107629004 [GRCh38] ChrX:106872234 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.43T>C (p.Leu15=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001485515]|not provided [RCV000840901] |
ChrX:107628671 [GRCh38] ChrX:106871901 [GRCh37] ChrX:Xq22.3 |
likely benign |
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 |
copy number loss |
not provided [RCV000846274] |
ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
NM_002764.4(PRPS1):c.865-234C>T |
single nucleotide variant |
not provided [RCV000832330] |
ChrX:107649706 [GRCh38] ChrX:106892936 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.272G>A (p.Cys91Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV000805354] |
ChrX:107639444 [GRCh38] ChrX:106882674 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NC_000023.10:g.(?_106871849)_(106893272_?)dup |
duplication |
Charcot-Marie-Tooth Neuropathy X [RCV000803916] |
ChrX:107628619..107650042 [GRCh38] ChrX:106871849..106893272 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.*158C>T |
single nucleotide variant |
Arts syndrome [RCV001165700]|Hearing loss, X-linked 1 [RCV001165699]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001165698] |
ChrX:107650190 [GRCh38] ChrX:106893420 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.12C>T (p.Ile4=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV000899541]|not specified [RCV000825221] |
ChrX:107628640 [GRCh38] ChrX:106871870 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_002764.4(PRPS1):c.395C>T (p.Ser132Phe) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001324115]|not provided [RCV001090394] |
ChrX:107640990 [GRCh38] ChrX:106884220 [GRCh37] ChrX:Xq22.3 |
likely pathogenic|uncertain significance |
GRCh37/hg19 Xq22.3(chrX:106423942-106937868)x2 |
copy number gain |
not provided [RCV000847737] |
ChrX:106423942..106937868 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 |
copy number loss |
not provided [RCV001007322] |
ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1 |
copy number loss |
not provided [RCV001007332] |
ChrX:105973323..110619655 [GRCh37] ChrX:Xq22.3-23 |
likely pathogenic |
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 |
copy number loss |
not provided [RCV000845672] |
ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 |
copy number loss |
not provided [RCV000848218] |
ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28 |
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 |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_002764.4(PRPS1):c.433T>G (p.Leu145Val) |
single nucleotide variant |
Phosphoribosylpyrophosphate synthetase superactivity [RCV000995614] |
ChrX:107642393 [GRCh38] ChrX:106885623 [GRCh37] ChrX:Xq22.3 |
likely pathogenic |
NM_002764.4(PRPS1):c.*726C>T |
single nucleotide variant |
Arts syndrome [RCV001167359]|Hearing loss, X-linked 1 [RCV001167357]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001167358] |
ChrX:107650758 [GRCh38] ChrX:106893988 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.508C>T (p.Pro170Ser) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001212370] |
ChrX:107642468 [GRCh38] ChrX:106885698 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.531-262C>T |
single nucleotide variant |
not provided [RCV001598481] |
ChrX:107644915 [GRCh38] ChrX:106888145 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.705-11T>C |
single nucleotide variant |
Arts syndrome [RCV002495966]|Charcot-Marie-Tooth Neuropathy X [RCV002072373]|not provided [RCV001616333] |
ChrX:107647595 [GRCh38] ChrX:106890825 [GRCh37] ChrX:Xq22.3 |
benign|likely benign |
NM_002764.4(PRPS1):c.123-36A>G |
single nucleotide variant |
not provided [RCV001587009] |
ChrX:107639259 [GRCh38] ChrX:106882489 [GRCh37] ChrX:Xq22.3 |
likely benign |
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1 |
copy number loss |
Xq21.32q23 deletion [RCV001579312] |
ChrX:91829757..113050225 [GRCh37] ChrX:Xq21.32-23 |
pathogenic |
NM_002764.4(PRPS1):c.183C>T (p.Gly61=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV000874565] |
ChrX:107639355 [GRCh38] ChrX:106882585 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.422C>T (p.Pro141Leu) |
single nucleotide variant |
Arts syndrome [RCV000984484] |
ChrX:107642382 [GRCh38] ChrX:106885612 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.660T>C (p.Asp220=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV000875739] |
ChrX:107645306 [GRCh38] ChrX:106888536 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.*137C>T |
single nucleotide variant |
Arts syndrome [RCV001169686]|Hearing loss, X-linked 1 [RCV001169685]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001169687] |
ChrX:107650169 [GRCh38] ChrX:106893399 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.531-21T>C |
single nucleotide variant |
not provided [RCV001563127] |
ChrX:107645156 [GRCh38] ChrX:106888386 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.359G>T (p.Gly120Val) |
single nucleotide variant |
Phosphoribosylpyrophosphate synthetase superactivity [RCV000990923] |
ChrX:107640954 [GRCh38] ChrX:106884184 [GRCh37] ChrX:Xq22.3 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_002764.4(PRPS1):c.250C>T (p.Arg84Trp) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001866068]|not provided [RCV001576926] |
ChrX:107639422 [GRCh38] ChrX:106882652 [GRCh37] ChrX:Xq22.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_002764.4(PRPS1):c.864+41T>A |
single nucleotide variant |
not provided [RCV001639362] |
ChrX:107647806 [GRCh38] ChrX:106891036 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.307-31G>C |
single nucleotide variant |
not provided [RCV001638435] |
ChrX:107640871 [GRCh38] ChrX:106884101 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.*423T>A |
single nucleotide variant |
Arts syndrome [RCV001167886]|Hearing loss, X-linked 1 [RCV001167885]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001167884] |
ChrX:107650455 [GRCh38] ChrX:106893685 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.531-38G>T |
single nucleotide variant |
not provided [RCV001694452] |
ChrX:107645139 [GRCh38] ChrX:106888369 [GRCh37] ChrX:Xq22.3 |
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_002764.4(PRPS1):c.287G>A (p.Arg96Gln) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002573283]|not provided [RCV001584942] |
ChrX:107639459 [GRCh38] ChrX:106882689 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.864+179del |
deletion |
not provided [RCV001609417] |
ChrX:107647934 [GRCh38] ChrX:106891164 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.827C>T (p.Pro276Leu) |
single nucleotide variant |
Retinal dystrophy [RCV001075223] |
ChrX:107647728 [GRCh38] ChrX:106890958 [GRCh37] ChrX:Xq22.3 |
likely pathogenic |
NM_002764.4(PRPS1):c.*508G>C |
single nucleotide variant |
Arts syndrome [RCV001167889]|Hearing loss, X-linked 1 [RCV001167888]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001167887] |
ChrX:107650540 [GRCh38] ChrX:106893770 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.*608C>T |
single nucleotide variant |
Arts syndrome [RCV001165778]|Hearing loss, X-linked 1 [RCV001165777]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001165776] |
ChrX:107650640 [GRCh38] ChrX:106893870 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NC_000023.11:g.(?_107628619)_(108696388_?)del |
deletion |
not provided [RCV001032756] |
ChrX:106871849..107939618 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.610C>T (p.Arg204Cys) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001047338] |
ChrX:107645256 [GRCh38] ChrX:106888486 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.*539G>C |
single nucleotide variant |
Arts syndrome [RCV001169755]|Hearing loss, X-linked 1 [RCV001165772]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001169754] |
ChrX:107650571 [GRCh38] ChrX:106893801 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.*539G>T |
single nucleotide variant |
Arts syndrome [RCV001165775]|Hearing loss, X-linked 1 [RCV001165773]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001165774] |
ChrX:107650571 [GRCh38] ChrX:106893801 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 |
copy number loss |
not provided [RCV001259005] |
ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25 |
pathogenic |
GRCh37/hg19 Xq22.3(chrX:106479615-107575960)x3 |
copy number gain |
not provided [RCV001259490] |
ChrX:106479615..107575960 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 |
copy number gain |
See cases [RCV001263024] |
ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 |
copy number loss |
not provided [RCV001259012] |
ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
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 Xp11.21-q28(chrX:56469080-155233731)x3 |
copy number gain |
not provided [RCV001281359] |
ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_002764.4(PRPS1):c.842T>G (p.Met281Arg) |
single nucleotide variant |
Arts syndrome [RCV001334081] |
ChrX:107647743 [GRCh38] ChrX:106890973 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.611G>A (p.Arg204His) |
single nucleotide variant |
Arts syndrome [RCV002493873]|Charcot-Marie-Tooth Neuropathy X [RCV001367011] |
ChrX:107645257 [GRCh38] ChrX:106888487 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.69G>A (p.Leu23=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001297710] |
ChrX:107628697 [GRCh38] ChrX:106871927 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
NM_002764.4(PRPS1):c.759C>T (p.Phe253=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001421436] |
ChrX:107647660 [GRCh38] ChrX:106890890 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.807A>C (p.Val269=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001440927] |
ChrX:107647708 [GRCh38] ChrX:106890938 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.441A>G (p.Ala147=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001498482] |
ChrX:107642401 [GRCh38] ChrX:106885631 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.348A>G (p.Leu116=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001487524] |
ChrX:107640943 [GRCh38] ChrX:106884173 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.270A>C (p.Pro90=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001521086] |
ChrX:107639442 [GRCh38] ChrX:106882672 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.459G>A (p.Lys153=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001503610] |
ChrX:107642419 [GRCh38] ChrX:106885649 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.864+7A>T |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001456107] |
ChrX:107647772 [GRCh38] ChrX:106891002 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.123-4G>A |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001493582] |
ChrX:107639291 [GRCh38] ChrX:106882521 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.867G>A (p.Val289=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001444085] |
ChrX:107649942 [GRCh38] ChrX:106893172 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.454C>T (p.Leu152=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001449134] |
ChrX:107642414 [GRCh38] ChrX:106885644 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.348A>C (p.Leu116=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001400742] |
ChrX:107640943 [GRCh38] ChrX:106884173 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.420C>T (p.Ile140=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001447710] |
ChrX:107642380 [GRCh38] ChrX:106885610 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.261A>C (p.Ala87=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001408437] |
ChrX:107639433 [GRCh38] ChrX:106882663 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.315G>A (p.Ala105=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001424211] |
ChrX:107640910 [GRCh38] ChrX:106884140 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.868A>G (p.Ile290Val) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001406555] |
ChrX:107649943 [GRCh38] ChrX:106893173 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.24C>T (p.Ser8=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001500491] |
ChrX:107628652 [GRCh38] ChrX:106871882 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.630T>C (p.Asp210=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001425683] |
ChrX:107645276 [GRCh38] ChrX:106888506 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.447G>T (p.Pro149=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001505670] |
ChrX:107642407 [GRCh38] ChrX:106885637 [GRCh37] ChrX:Xq22.3 |
likely benign |
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 |
copy number loss |
See cases [RCV002285075] |
ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_002764.4(PRPS1):c.346C>G (p.Leu116Val) |
single nucleotide variant |
not provided [RCV001761357] |
ChrX:107640941 [GRCh38] ChrX:106884171 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.641G>A (p.Arg214Gln) |
single nucleotide variant |
Arts syndrome [RCV001775331]|Charcot-Marie-Tooth Neuropathy X [RCV002541044]|not specified [RCV001822002] |
ChrX:107645287 [GRCh38] ChrX:106888517 [GRCh37] ChrX:Xq22.3 |
likely pathogenic|uncertain significance |
NM_002764.4(PRPS1):c.224A>C (p.Asn75Thr) |
single nucleotide variant |
not provided [RCV001752585] |
ChrX:107639396 [GRCh38] ChrX:106882626 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.220A>G (p.Ile74Val) |
single nucleotide variant |
not provided [RCV001765056] |
ChrX:107639392 [GRCh38] ChrX:106882622 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.205G>A (p.Glu69Lys) |
single nucleotide variant |
not provided [RCV001752746] |
ChrX:107639377 [GRCh38] ChrX:106882607 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2 |
copy number gain |
not provided [RCV001795543] |
ChrX:104782507..112949573 [GRCh37] ChrX:Xq22.3-23 |
likely pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) |
copy number loss |
Turner syndrome [RCV002280672] |
ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_002764.4(PRPS1):c.719G>A (p.Gly240Asp) |
single nucleotide variant |
not provided [RCV001816551] |
ChrX:107647620 [GRCh38] ChrX:106890850 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.497C>T (p.Thr166Ile) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001869593]|Phosphoribosylpyrophosphate synthetase superactivity [RCV001809108] |
ChrX:107642457 [GRCh38] ChrX:106885687 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.383A>T (p.Asp128Val) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001971564]|Charcot-Marie-Tooth disease X-linked recessive 5 [RCV003224602]|not provided [RCV003225212] |
ChrX:107640978 [GRCh38] ChrX:106884208 [GRCh37] ChrX:Xq22.3 |
likely pathogenic|uncertain significance |
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067) |
copy number gain |
not specified [RCV002053170] |
ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23 |
pathogenic |
NM_002764.4(PRPS1):c.829C>G (p.Gln277Glu) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001889969] |
ChrX:107647730 [GRCh38] ChrX:106890960 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.149G>A (p.Gly50Glu) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001912928] |
ChrX:107639321 [GRCh38] ChrX:106882551 [GRCh37] ChrX:Xq22.3 |
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 |
GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339) |
copy number gain |
not specified [RCV002053166] |
ChrX:101982475..116885339 [GRCh37] ChrX:Xq22.1-24 |
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_002764.4(PRPS1):c.190A>G (p.Asn64Asp) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001924777] |
ChrX:107639362 [GRCh38] ChrX:106882592 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.621del (p.Val208fs) |
deletion |
Charcot-Marie-Tooth Neuropathy X [RCV001941661] |
ChrX:107645266 [GRCh38] ChrX:106888496 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.673A>G (p.Thr225Ala) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002048412] |
ChrX:107645319 [GRCh38] ChrX:106888549 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.805G>T (p.Val269Leu) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001921971] |
ChrX:107647706 [GRCh38] ChrX:106890936 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile) |
single nucleotide variant |
Arts syndrome [RCV002489973]|Charcot-Marie-Tooth Neuropathy X [RCV001870272] |
ChrX:107640929 [GRCh38] ChrX:106884159 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.316C>A (p.Pro106Thr) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001954225] |
ChrX:107640911 [GRCh38] ChrX:106884141 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.769G>A (p.Ala257Thr) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001931002] |
ChrX:107647670 [GRCh38] ChrX:106890900 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.511G>T (p.Asp171Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001994046] |
ChrX:107642471 [GRCh38] ChrX:106885701 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.671A>G (p.Asp224Gly) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001902270] |
ChrX:107645317 [GRCh38] ChrX:106888547 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.587G>A (p.Arg196Gln) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV001905384] |
ChrX:107645233 [GRCh38] ChrX:106888463 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.143T>C (p.Val48Ala) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002034013] |
ChrX:107639315 [GRCh38] ChrX:106882545 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.122+16G>A |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002126238] |
ChrX:107628766 [GRCh38] ChrX:106871996 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.531-14G>A |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002192035] |
ChrX:107645163 [GRCh38] ChrX:106888393 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.865-14T>C |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002190646] |
ChrX:107649926 [GRCh38] ChrX:106893156 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.79C>T (p.Leu27=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002130254] |
ChrX:107628707 [GRCh38] ChrX:106871937 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.122+11A>T |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002129914] |
ChrX:107628761 [GRCh38] ChrX:106871991 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.122+10A>G |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002090553] |
ChrX:107628760 [GRCh38] ChrX:106871990 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.99G>A (p.Lys33=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002209651] |
ChrX:107628727 [GRCh38] ChrX:106871957 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.135T>C (p.Gly45=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002212627] |
ChrX:107639307 [GRCh38] ChrX:106882537 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.228C>A (p.Ala76=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002172042] |
ChrX:107639400 [GRCh38] ChrX:106882630 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.771T>C (p.Ala257=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002134285] |
ChrX:107647672 [GRCh38] ChrX:106890902 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.282T>C (p.Tyr94=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002173611] |
ChrX:107639454 [GRCh38] ChrX:106882684 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.171G>A (p.Gln57=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002194811] |
ChrX:107639343 [GRCh38] ChrX:106882573 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.945T>C (p.His315=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002152096] |
ChrX:107650020 [GRCh38] ChrX:106893250 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.693T>C (p.His231=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002085833] |
ChrX:107645339 [GRCh38] ChrX:106888569 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.530+18A>G |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002108088] |
ChrX:107642508 [GRCh38] ChrX:106885738 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.705-16C>T |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002150580] |
ChrX:107647590 [GRCh38] ChrX:106890820 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.168T>C (p.Val56=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002079652] |
ChrX:107639340 [GRCh38] ChrX:106882570 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.704+8T>A |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002166400] |
ChrX:107645358 [GRCh38] ChrX:106888588 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.531-15C>T |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002132487] |
ChrX:107645162 [GRCh38] ChrX:106888392 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.858A>G (p.Lys286=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002119155] |
ChrX:107647759 [GRCh38] ChrX:106890989 [GRCh37] ChrX:Xq22.3 |
benign |
NM_002764.4(PRPS1):c.705-4C>T |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002203341]|Inborn genetic diseases [RCV002363706] |
ChrX:107647602 [GRCh38] ChrX:106890832 [GRCh37] ChrX:Xq22.3 |
likely benign|uncertain significance |
NM_002764.4(PRPS1):c.122+11A>G |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002159829] |
ChrX:107628761 [GRCh38] ChrX:106871991 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.127G>A (p.Glu43Lys) |
single nucleotide variant |
Phosphoribosylpyrophosphate synthetase superactivity [RCV002249144] |
ChrX:107639299 [GRCh38] ChrX:106882529 [GRCh37] ChrX:Xq22.3 |
likely pathogenic |
NM_002764.4(PRPS1):c.123-6T>C |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002136405] |
ChrX:107639289 [GRCh38] ChrX:106882519 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.531-9G>C |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002164548] |
ChrX:107645168 [GRCh38] ChrX:106888398 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.406-4A>G |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002135950] |
ChrX:107642362 [GRCh38] ChrX:106885592 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.252G>A (p.Arg84=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002177929] |
ChrX:107639424 [GRCh38] ChrX:106882654 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.531-19A>T |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002082209] |
ChrX:107645158 [GRCh38] ChrX:106888388 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.807A>G (p.Val269=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002099468] |
ChrX:107647708 [GRCh38] ChrX:106890938 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.306+7G>A |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002156094] |
ChrX:107639485 [GRCh38] ChrX:106882715 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.433T>C (p.Leu145=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002153901] |
ChrX:107642393 [GRCh38] ChrX:106885623 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.789C>T (p.Asn263=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002202259] |
ChrX:107647690 [GRCh38] ChrX:106890920 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.406-15A>C |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002156783] |
ChrX:107642351 [GRCh38] ChrX:106885581 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.180T>C (p.Cys60=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002183750] |
ChrX:107639352 [GRCh38] ChrX:106882582 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.948C>T (p.Val316=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002124093] |
ChrX:107650023 [GRCh38] ChrX:106893253 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.406-20G>C |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002136837] |
ChrX:107642346 [GRCh38] ChrX:106885576 [GRCh37] ChrX:Xq22.3 |
benign |
NC_000023.10:g.(?_106046084)_(108868249_?)del |
deletion |
Charcot-Marie-Tooth Neuropathy X [RCV003122615] |
ChrX:106046084..108868249 [GRCh37] ChrX:Xq22.3-23 |
pathogenic |
NC_000023.10:g.(?_106456106)_(106959200_?)dup |
duplication |
Charcot-Marie-Tooth Neuropathy X [RCV003122616] |
ChrX:106456106..106959200 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NC_000023.10:g.(?_106871859)_(106872000_?)dup |
duplication |
Charcot-Marie-Tooth Neuropathy X [RCV003122617] |
ChrX:106871859..106872000 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.334G>C (p.Val112Leu) |
single nucleotide variant |
not provided [RCV002251828] |
ChrX:107640929 [GRCh38] ChrX:106884159 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.21C>A (p.Phe7Leu) |
single nucleotide variant |
not provided [RCV003232011] |
ChrX:107628649 [GRCh38] ChrX:106871879 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.367C>G (p.His123Asp) |
single nucleotide variant |
Arts syndrome [RCV002275731] |
ChrX:107640962 [GRCh38] ChrX:106884192 [GRCh37] ChrX:Xq22.3 |
not provided |
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 |
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 |
copy number gain |
not provided [RCV002291535] |
ChrX:76794355..119282836 [GRCh37] ChrX:Xq21.1-24 |
pathogenic |
NM_002764.4(PRPS1):c.826C>T (p.Pro276Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease X-linked recessive 5 [RCV002291147] |
ChrX:107647727 [GRCh38] ChrX:106890957 [GRCh37] ChrX:Xq22.3 |
likely pathogenic |
NM_002764.4(PRPS1):c.160T>C (p.Tyr54His) |
single nucleotide variant |
not provided [RCV002269742] |
ChrX:107639332 [GRCh38] ChrX:106882562 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.179G>A (p.Cys60Tyr) |
single nucleotide variant |
Arts syndrome [RCV003148088] |
ChrX:107639351 [GRCh38] ChrX:106882581 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.292G>A (p.Asp98Asn) |
single nucleotide variant |
not provided [RCV003130343] |
ChrX:107639464 [GRCh38] ChrX:106882694 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.173G>A (p.Ser58Asn) |
single nucleotide variant |
not provided [RCV002469557] |
ChrX:107639345 [GRCh38] ChrX:106882575 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xq22.3(chrX:105730612-107162289)x3 |
copy number gain |
not provided [RCV002473830] |
ChrX:105730612..107162289 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 |
copy number loss |
not provided [RCV002474518] |
ChrX:93805850..118913329 [GRCh37] ChrX:Xq21.33-24 |
pathogenic |
NM_002764.4(PRPS1):c.733T>C (p.Tyr245His) |
single nucleotide variant |
Arts syndrome [RCV002470496] |
ChrX:107647634 [GRCh38] ChrX:106890864 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.925G>A (p.Val309Ile) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002304981] |
ChrX:107650000 [GRCh38] ChrX:106893230 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.244G>C (p.Ala82Pro) |
single nucleotide variant |
Hearing loss, X-linked 1 [RCV002305694] |
ChrX:107639416 [GRCh38] ChrX:106882646 [GRCh37] ChrX:Xq22.3 |
not provided |
NM_002764.4(PRPS1):c.755TCT[1] (p.Phe253del) |
microsatellite |
Charcot-Marie-Tooth Neuropathy X [RCV002837858] |
ChrX:107647656..107647658 [GRCh38] ChrX:106890886..106890888 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.306+17A>T |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002908092] |
ChrX:107639495 [GRCh38] ChrX:106882725 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.865-20T>G |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002880332] |
ChrX:107649920 [GRCh38] ChrX:106893150 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.758T>A (p.Phe253Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003032742] |
ChrX:107647659 [GRCh38] ChrX:106890889 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.624G>A (p.Val208=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002616858] |
ChrX:107645270 [GRCh38] ChrX:106888500 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.796T>C (p.Phe266Leu) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003055501] |
ChrX:107647697 [GRCh38] ChrX:106890927 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.219G>A (p.Met73Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002708011] |
ChrX:107639391 [GRCh38] ChrX:106882621 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.96T>C (p.Thr32=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002572196] |
ChrX:107628724 [GRCh38] ChrX:106871954 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.435G>A (p.Leu145=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002889692] |
ChrX:107642395 [GRCh38] ChrX:106885625 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.570del (p.Ala190_Leu191insTer) |
deletion |
Charcot-Marie-Tooth Neuropathy X [RCV003053906] |
ChrX:107645215 [GRCh38] ChrX:106888445 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.270A>T (p.Pro90=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002797218] |
ChrX:107639442 [GRCh38] ChrX:106882672 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.936A>G (p.Leu312=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002690951] |
ChrX:107650011 [GRCh38] ChrX:106893241 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.111C>T (p.Asn37=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002637348] |
ChrX:107628739 [GRCh38] ChrX:106871969 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.122+18A>G |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002846907] |
ChrX:107628768 [GRCh38] ChrX:106871998 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.183C>A (p.Gly61=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003035785] |
ChrX:107639355 [GRCh38] ChrX:106882585 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.286C>T (p.Arg96Trp) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003053901] |
ChrX:107639458 [GRCh38] ChrX:106882688 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.727A>C (p.Arg243=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002667643] |
ChrX:107647628 [GRCh38] ChrX:106890858 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.785A>G (p.Asn262Ser) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003008148] |
ChrX:107647686 [GRCh38] ChrX:106890916 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.249C>T (p.Ser83=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002710087] |
ChrX:107639421 [GRCh38] ChrX:106882651 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.462G>A (p.Trp154Ter) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002828153] |
ChrX:107642422 [GRCh38] ChrX:106885652 [GRCh37] ChrX:Xq22.3 |
pathogenic |
NM_002764.4(PRPS1):c.827C>A (p.Pro276His) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003022906] |
ChrX:107647728 [GRCh38] ChrX:106890958 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.307-8C>T |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002800860] |
ChrX:107640894 [GRCh38] ChrX:106884124 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.191A>T (p.Asn64Ile) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002853059] |
ChrX:107639363 [GRCh38] ChrX:106882593 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.480T>C (p.Ser160=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002928961] |
ChrX:107642440 [GRCh38] ChrX:106885670 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.721G>A (p.Ala241Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002893223] |
ChrX:107647622 [GRCh38] ChrX:106890852 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.450T>C (p.Ala150=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002875561] |
ChrX:107642410 [GRCh38] ChrX:106885640 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.940A>T (p.Ser314Cys) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003030530] |
ChrX:107650015 [GRCh38] ChrX:106893245 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.514G>A (p.Ala172Thr) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002833289] |
ChrX:107642474 [GRCh38] ChrX:106885704 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.531-15C>A |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003088539] |
ChrX:107645162 [GRCh38] ChrX:106888392 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.675T>C (p.Thr225=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002806812] |
ChrX:107645321 [GRCh38] ChrX:106888551 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.405+14C>T |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002579151] |
ChrX:107641014 [GRCh38] ChrX:106884244 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.492C>T (p.Asn164=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003045511] |
ChrX:107642452 [GRCh38] ChrX:106885682 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.405+13G>A |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003063065] |
ChrX:107641013 [GRCh38] ChrX:106884243 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.639T>C (p.Asp213=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002601055] |
ChrX:107645285 [GRCh38] ChrX:106888515 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.269C>T (p.Pro90Leu) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002963046] |
ChrX:107639441 [GRCh38] ChrX:106882671 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.366T>C (p.Asp122=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003026916] |
ChrX:107640961 [GRCh38] ChrX:106884191 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.908C>T (p.Thr303Ile) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002581442] |
ChrX:107649983 [GRCh38] ChrX:106893213 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.406-17C>A |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002834010] |
ChrX:107642349 [GRCh38] ChrX:106885579 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.89T>A (p.Val30Glu) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002834037] |
ChrX:107628717 [GRCh38] ChrX:106871947 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.555G>A (p.Leu185=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002604699] |
ChrX:107645201 [GRCh38] ChrX:106888431 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.471G>A (p.Glu157=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002680920] |
ChrX:107642431 [GRCh38] ChrX:106885661 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.63C>T (p.Asp21=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002943172] |
ChrX:107628691 [GRCh38] ChrX:106871921 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.307-6A>G |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003051885] |
ChrX:107640896 [GRCh38] ChrX:106884126 [GRCh37] ChrX:Xq22.3 |
likely benign |
NM_002764.4(PRPS1):c.499A>G (p.Ile167Val) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV002606374] |
ChrX:107642459 [GRCh38] ChrX:106885689 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.118A>G (p.Thr40Ala) |
single nucleotide variant |
not provided [RCV003135148] |
ChrX:107628746 [GRCh38] ChrX:106871976 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.755T>A (p.Ile252Asn) |
single nucleotide variant |
Phosphoribosylpyrophosphate synthetase superactivity [RCV003225008] |
ChrX:107647656 [GRCh38] ChrX:106890886 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.296A>G (p.Lys99Arg) |
single nucleotide variant |
not provided [RCV003325705] |
ChrX:107639468 [GRCh38] ChrX:106882698 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.74T>C (p.Leu25Pro) |
single nucleotide variant |
not provided [RCV003457186] |
ChrX:107628702 [GRCh38] ChrX:106871932 [GRCh37] ChrX:Xq22.3 |
likely pathogenic |
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 |
copy number loss |
not provided [RCV003483927] |
ChrX:91274467..126799984 [GRCh37] ChrX:Xq21.31-25 |
pathogenic |
GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3 |
copy number gain |
not provided [RCV003485308] |
ChrX:96349060..106950847 [GRCh37] ChrX:Xq21.33-22.3 |
pathogenic |
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 |
copy number gain |
not provided [RCV003485304] |
ChrX:77212972..118576590 [GRCh37] ChrX:Xq21.1-24 |
pathogenic |
NM_002764.4(PRPS1):c.*685C>T |
single nucleotide variant |
not provided [RCV003457614] |
ChrX:107650717 [GRCh38] ChrX:106893947 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.778C>T (p.Arg260Cys) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003824918] |
ChrX:107647679 [GRCh38] ChrX:106890909 [GRCh37] ChrX:Xq22.3 |
uncertain significance |
NM_002764.4(PRPS1):c.54A>G (p.Lys18=) |
single nucleotide variant |
Charcot-Marie-Tooth Neuropathy X [RCV003878992] |
ChrX:107628682 [GRCh38] ChrX:106871912 [GRCh37] ChrX:Xq22.3 |
likely benign |