| NC_000023.10:g.(?_69243048)_(69255479_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000553939] |
ChrX:69243048..69255479 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.646C>T (p.Pro216Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001212052]|not provided [RCV000521166] |
ChrX:70027976 [GRCh38]
ChrX:69247826 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic|uncertain significance |
| NM_001399.5(EDA):c.599dup (p.Gly201fs) |
duplication |
EDA-related condition [RCV003905343]|Hypohidrotic X-linked ectodermal dysplasia [RCV000548188] |
ChrX:70027924..70027925 [GRCh38]
ChrX:69247774..69247775 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.970G>A (p.Val324Met) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000555399] |
ChrX:70035403 [GRCh38]
ChrX:69255253 [GRCh37]
ChrX:Xq13.1 |
pathogenic|uncertain significance |
| NM_001399.5(EDA):c.1100delinsTCAAGATGG (p.Ala367fs) |
indel |
Hypohidrotic X-linked ectodermal dysplasia [RCV000553050] |
ChrX:70035533 [GRCh38]
ChrX:69255383 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| EDA, 36-BP DEL, EX5 |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000011789] |
ChrX:Xq12-q13.1 |
pathogenic |
| EDA, 1-BP DEL, EX6 |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000011790] |
ChrX:Xq12-q13.1 |
pathogenic |
| NM_001399.5(EDA):c.573_574insT (p.Gly192fs) |
insertion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000011793] |
ChrX:70027903..70027904 [GRCh38]
ChrX:69247753..69247754 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.912_913dup (p.Ser305fs) |
microsatellite |
Hypohidrotic X-linked ectodermal dysplasia [RCV000011794] |
ChrX:70033513..70033514 [GRCh38]
ChrX:69253363..69253364 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.479G>A (p.Ser160Asn) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000559389] |
ChrX:69957109 [GRCh38]
ChrX:69176959 [GRCh37]
ChrX:Xq13.1 |
pathogenic|uncertain significance |
| NC_000023.11:g.(?_69616289)_(69616724_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000528754] |
ChrX:69616289..69616724 [GRCh38]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.593del (p.Gly198fs) |
deletion |
not provided [RCV000520012] |
ChrX:70027921 [GRCh38]
ChrX:69247771 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.476G>C (p.Arg159Thr) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000544580] |
ChrX:69957106 [GRCh38]
ChrX:69176956 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic|uncertain significance |
| NM_001399.5(EDA):c.826C>T (p.Arg276Cys) |
single nucleotide variant |
Ectodermal dysplasia [RCV000626808]|Hypohidrotic X-linked ectodermal dysplasia [RCV000024599]|not provided [RCV002262574] |
ChrX:70033430 [GRCh38]
ChrX:69253280 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.5(EDA):c.181T>C (p.Tyr61His) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000011778]|Hypohidrotic X-linked ectodermal dysplasia [RCV000763629] |
ChrX:69616489 [GRCh38]
ChrX:68836333 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001399.5(EDA):c.206G>T (p.Arg69Leu) |
single nucleotide variant |
EDA-related condition [RCV003894799]|Hypohidrotic X-linked ectodermal dysplasia [RCV000011779]|not provided [RCV000432524]|not specified [RCV000218834] |
ChrX:69616514 [GRCh38]
ChrX:68836358 [GRCh37]
ChrX:Xq13.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001399.5(EDA):c.67C>T (p.Gln23Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000011780] |
ChrX:69616375 [GRCh38]
ChrX:68836219 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.187G>A (p.Glu63Lys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000011781] |
ChrX:69616495 [GRCh38]
ChrX:68836339 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.463C>T (p.Arg155Cys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000011782]|Hypohidrotic X-linked ectodermal dysplasia [RCV000763630]|not provided [RCV000254983] |
ChrX:69957093 [GRCh38]
ChrX:69176943 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.466C>T (p.Arg156Cys) |
single nucleotide variant |
EDA-related condition [RCV003390668]|Hypohidrotic X-linked ectodermal dysplasia [RCV000011783]|not provided [RCV000414306] |
ChrX:69957096 [GRCh38]
ChrX:69176946 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.5(EDA):c.626C>T (p.Pro209Leu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000011785]|not specified [RCV000154610] |
ChrX:70027956 [GRCh38]
ChrX:69247806 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001399.5(EDA):c.671G>C (p.Gly224Ala) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000011786] |
ChrX:70028001 [GRCh38]
ChrX:69247851 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.1045G>A (p.Ala349Thr) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000011787]|not provided [RCV000255050] |
ChrX:70035478 [GRCh38]
ChrX:69255328 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.183C>G (p.Tyr61Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000011788] |
ChrX:69616491 [GRCh38]
ChrX:68836335 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.193C>G (p.Arg65Gly) |
single nucleotide variant |
Tooth agenesis, selective, X-linked, 1 [RCV000011791] |
ChrX:69616501 [GRCh38]
ChrX:68836345 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.1072C>G (p.Gln358Glu) |
single nucleotide variant |
Tooth agenesis, selective, X-linked, 1 [RCV000011792] |
ChrX:70035505 [GRCh38]
ChrX:69255355 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.1013C>T (p.Thr338Met) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001205829]|Tooth agenesis, selective, X-linked, 1 [RCV000011795] |
ChrX:70035446 [GRCh38]
ChrX:69255296 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.467G>A (p.Arg156His) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000032612]|Hypohidrotic X-linked ectodermal dysplasia [RCV002490354]|not provided [RCV000255365] |
ChrX:69957097 [GRCh38]
ChrX:69176947 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.1070G>C (p.Arg357Pro) |
single nucleotide variant |
not specified [RCV000037159] |
ChrX:70035503 [GRCh38]
ChrX:69255353 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.1087A>G (p.Lys363Glu) |
single nucleotide variant |
not specified [RCV000037160] |
ChrX:70035520 [GRCh38]
ChrX:69255370 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.1094T>C (p.Val365Ala) |
single nucleotide variant |
EDA-related disorders [RCV003335068]|Hypohidrotic X-linked ectodermal dysplasia [RCV000542700]|Inborn genetic diseases [RCV000624502]|Partial congenital absence of teeth [RCV000037161]|Tooth agenesis, selective, X-linked, 1 [RCV003485530]|not provided [RCV001577971] |
ChrX:70035527 [GRCh38]
ChrX:69255377 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.5(EDA):c.1151G>C (p.Arg384Thr) |
single nucleotide variant |
not specified [RCV000037162] |
ChrX:70035584 [GRCh38]
ChrX:69255434 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.164T>A (p.Leu55Gln) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037164] |
ChrX:69616472 [GRCh38]
ChrX:68836316 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.173_175del (p.Leu58del) |
deletion |
Inborn genetic diseases [RCV000622517]|not specified [RCV000037165] |
ChrX:69616479..69616481 [GRCh38]
ChrX:68836323..68836325 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037166]|Hypohidrotic X-linked ectodermal dysplasia [RCV001814027]|not provided [RCV000255907] |
ChrX:69616310 [GRCh38]
ChrX:68836154 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.329C>A (p.Ser110Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037167] |
ChrX:69616637 [GRCh38]
ChrX:68836481 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.347T>A (p.Leu116Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037168] |
ChrX:69616655 [GRCh38]
ChrX:68836499 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.457C>T (p.Arg153Cys) |
single nucleotide variant |
Anhidrotic ectodermal dysplasia [RCV003478983]|Hypohidrotic X-linked ectodermal dysplasia [RCV000592238]|not provided [RCV000420111] |
ChrX:69957087 [GRCh38]
ChrX:69176937 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.5(EDA):c.467G>T (p.Arg156Leu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037172] |
ChrX:69957097 [GRCh38]
ChrX:69176947 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.5(EDA):c.491A>C (p.Glu164Ala) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000990855]|not specified [RCV000037173] |
ChrX:69957121 [GRCh38]
ChrX:69176971 [GRCh37]
ChrX:Xq13.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001399.5(EDA):c.526+5G>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037174] |
ChrX:70023246 [GRCh38]
ChrX:69243096 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000694688]|Hypohidrotic X-linked ectodermal dysplasia [RCV002482984] |
ChrX:70027866..70027901 [GRCh38]
ChrX:69247726..69247761 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037176]|not provided [RCV001550550] |
ChrX:70027877..70027912 [GRCh38]
ChrX:69247733..69247768 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.562_589del (p.Pro188fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037177] |
ChrX:70027892..70027919 [GRCh38]
ChrX:69247742..69247769 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.572_589del (p.188_190PGP[1]) |
deletion |
EDA-related condition [RCV003904911]|Hypohidrotic X-linked ectodermal dysplasia [RCV000633503]|not provided [RCV000481357] |
ChrX:70027889..70027906 [GRCh38]
ChrX:69247752..69247769 [GRCh37]
ChrX:Xq13.1 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_001399.5(EDA):c.599C>A (p.Pro200Gln) |
single nucleotide variant |
not specified [RCV000037179] |
ChrX:70027929 [GRCh38]
ChrX:69247779 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.663_697del (p.Pro222fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000551802]|not provided [RCV000255942] |
ChrX:70027985..70028019 [GRCh38]
ChrX:69247843..69247877 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.607C>T (p.Pro203Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037181] |
ChrX:70027937 [GRCh38]
ChrX:69247787 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001399.5(EDA):c.706+11_706+12del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001276386]|not provided [RCV001594823]|not specified [RCV000037182] |
ChrX:70028047..70028048 [GRCh38]
ChrX:69247897..69247898 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.730C>T (p.Arg244Ter) |
single nucleotide variant |
EDA-related condition [RCV003904912]|Hypohidrotic X-linked ectodermal dysplasia [RCV000037183]|not provided [RCV000255016] |
ChrX:70029527 [GRCh38]
ChrX:69249377 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.740A>G (p.Gln247Arg) |
single nucleotide variant |
not specified [RCV000037184] |
ChrX:70029537 [GRCh38]
ChrX:69249387 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.742-11C>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001659954]|not provided [RCV001682730]|not specified [RCV000037185] |
ChrX:70030458 [GRCh38]
ChrX:69250308 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.793G>A (p.Asp265Asn) |
single nucleotide variant |
not specified [RCV000037186] |
ChrX:70030520 [GRCh38]
ChrX:69250370 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.822G>T (p.Trp274Cys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037187] |
ChrX:70033426 [GRCh38]
ChrX:69253276 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.822del (p.Trp274fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037188] |
ChrX:70033425 [GRCh38]
ChrX:69253275 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.871G>A (p.Gly291Arg) |
single nucleotide variant |
Anhidrotic ectodermal dysplasia [RCV003398602]|Hypohidrotic X-linked ectodermal dysplasia [RCV000037189]|not provided [RCV000256153] |
ChrX:70033475 [GRCh38]
ChrX:69253325 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.881A>T (p.Glu294Val) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002513473]|not specified [RCV000037190] |
ChrX:70033485 [GRCh38]
ChrX:69253335 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic|uncertain significance |
| NM_001399.5(EDA):c.895G>A (p.Gly299Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037191]|not provided [RCV001778676] |
ChrX:70033499 [GRCh38]
ChrX:69253349 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.5(EDA):c.902A>G (p.Tyr301Cys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037193] |
ChrX:70033506 [GRCh38]
ChrX:69253356 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.961G>T (p.Glu321Ter) |
single nucleotide variant |
EDA-related condition [RCV003904913]|Hypohidrotic X-linked ectodermal dysplasia [RCV000037194] |
ChrX:70035394 [GRCh38]
ChrX:69255244 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely 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 Xq13.1(chrX:69880987-70415042)x3 |
copy number gain |
See cases [RCV000051136] |
ChrX:69880987..70415042 [GRCh38]
ChrX:69100823..69634892 [GRCh37]
ChrX:69017548..69551617 [NCBI36]
ChrX:Xq13.1 |
uncertain significance |
| 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 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2 |
copy number gain |
See cases [RCV000052415] |
ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1 |
pathogenic |
| GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 |
copy number gain |
See cases [RCV000052416] |
ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1 |
pathogenic |
| GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 |
copy number gain |
See cases [RCV000052417] |
ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3 |
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 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 |
| NM_001399.5(EDA):c.396+2T>C |
single nucleotide variant |
not provided [RCV000173251] |
ChrX:69616706 [GRCh38]
ChrX:68836550 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 |
copy number loss |
See cases [RCV000053005] |
ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.1(chrX:69880987-70512644)x2 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054209]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054209]|See cases [RCV000054209] |
ChrX:69880987..70512644 [GRCh38]
ChrX:69100823..69732494 [GRCh37]
ChrX:69017548..69649219 [NCBI36]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.272dup (p.Ser91fs) |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV000037163] |
ChrX:69616579..69616580 [GRCh38]
ChrX:68836423..68836424 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 |
copy number gain |
See cases [RCV000133654] |
ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001399.5(EDA):c.550C>T (p.Pro184Ser) |
single nucleotide variant |
not provided [RCV003221443] |
ChrX:70027880 [GRCh38]
ChrX:69247730 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
| 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 |
| NM_001399.5(EDA):c.956G>T (p.Ser319Ile) |
single nucleotide variant |
Tooth agenesis, selective, X-linked, 1 [RCV000128525] |
ChrX:70035389 [GRCh38]
ChrX:69255239 [GRCh37]
ChrX:Xq13.1 |
not provided |
| 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)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-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: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 Xq11.1-21.1(chrX:62712219-78605009)x3 |
copy number gain |
See cases [RCV000134569] |
ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 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 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 Xp11.22-q21.31(chrX:53985575-92203108)x1 |
copy number loss |
See cases [RCV000135306] |
ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31 |
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 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) |
copy number loss |
See cases [RCV000136094] |
ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25 |
pathogenic |
| GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 |
copy number gain |
See cases [RCV000137137] |
ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3 |
pathogenic|likely benign |
| GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 |
copy number gain |
See cases [RCV000136841] |
ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 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 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 |
copy number loss |
See cases [RCV000137414] |
ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1 |
pathogenic|likely benign |
| GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 |
copy number loss |
See cases [RCV000137886] |
ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3 |
pathogenic |
| GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 |
copy number loss |
See cases [RCV000138678] |
ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3 |
pathogenic |
| GRCh38/hg38 Xp22.33-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 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 Xp22.33-q21.31(chrX:10701-88318651)x1 |
copy number loss |
See cases [RCV000139352] |
ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31 |
pathogenic |
| GRCh38/hg38 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 Xq13.1(chrX:69789628-69822584)x1 |
copy number loss |
See cases [RCV000140548] |
ChrX:69789628..69822584 [GRCh38]
ChrX:69009472..69042428 [GRCh37]
ChrX:68926197..68959153 [NCBI36]
ChrX:Xq13.1 |
likely benign |
| GRCh38/hg38 Xq13.1(chrX:69987949-70082820)x4 |
copy number gain |
See cases [RCV000140232] |
ChrX:69987949..70082820 [GRCh38]
ChrX:69207799..69302670 [GRCh37]
ChrX:69124524..69219395 [NCBI36]
ChrX:Xq13.1 |
uncertain significance |
| 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 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 Xq12-21.1(chrX:66445907-78172208)x3 |
copy number gain |
See cases [RCV000142336] |
ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1 |
pathogenic |
| GRCh38/hg38 Xq13.1(chrX:69839596-70301821)x1 |
copy number loss |
See cases [RCV000142507] |
ChrX:69839596..70301821 [GRCh38]
ChrX:69059438..69521671 [GRCh37]
ChrX:68976163..69438396 [NCBI36]
ChrX:Xq13.1 |
likely pathogenic|uncertain significance |
| 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 Xq13.1(chrX:69991690-70536572)x2 |
copy number gain |
See cases [RCV000143093] |
ChrX:69991690..70536572 [GRCh38]
ChrX:69211540..69756422 [GRCh37]
ChrX:69128265..69673147 [NCBI36]
ChrX:Xq13.1 |
uncertain significance |
| 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 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 Xp11.21-q13.3(chrX:56431359-76557419)x1 |
copy number loss |
See cases [RCV000143131] |
ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3 |
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 |
| NM_001399.5(EDA):c.474A>C (p.Lys158Asn) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000155912] |
ChrX:69957104 [GRCh38]
ChrX:69176954 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.794A>G (p.Asp265Gly) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000796602]|not specified [RCV000156051] |
ChrX:70033398 [GRCh38]
ChrX:69253248 [GRCh37]
ChrX:Xq13.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001399.5(EDA):c.742-14T>G |
single nucleotide variant |
not provided [RCV004017434] |
ChrX:70030455 [GRCh38]
ChrX:69250305 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.676C>T (p.Gln226Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000150598] |
ChrX:70028006 [GRCh38]
ChrX:69247856 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.809del (p.Val270fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000150599] |
ChrX:70033413 [GRCh38]
ChrX:69253263 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.822G>A (p.Trp274Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000150600] |
ChrX:70033426 [GRCh38]
ChrX:69253276 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.917A>T (p.Gln306Leu) |
single nucleotide variant |
not specified [RCV000150604] |
ChrX:70033521 [GRCh38]
ChrX:69253371 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.948del (p.Phe317fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000150605] |
ChrX:70035381 [GRCh38]
ChrX:69255231 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.991C>T (p.Gln331Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000150607] |
ChrX:70035424 [GRCh38]
ChrX:69255274 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.4(EDA):c.(?_397)_(502_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000156114] |
ChrX:69957027..69957132 [GRCh38]
ChrX:69176877..69176982 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.4(EDA):c.(?_925)_(1176_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000156115] |
ChrX:70035358..70035609 [GRCh38]
ChrX:69255208..69255459 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.396+2T>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000156149] |
ChrX:69616706 [GRCh38]
ChrX:68836550 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.742-18T>G |
single nucleotide variant |
not specified [RCV000156226] |
ChrX:70030451 [GRCh38]
ChrX:69250301 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.502+1G>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000156436] |
ChrX:69957133 [GRCh38]
ChrX:69176983 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.132_135dup (p.Phe46fs) |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV000156531] |
ChrX:69616438..69616439 [GRCh38]
ChrX:68836282..68836283 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.201G>T (p.Glu67Asp) |
single nucleotide variant |
not provided [RCV001753548]|not specified [RCV000156631] |
ChrX:69616509 [GRCh38]
ChrX:68836353 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.766C>T (p.Gln256Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000686194] |
ChrX:70030493 [GRCh38]
ChrX:69250343 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.4(EDA):c.(?_397)-340_(496_?)dup |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV000156854] |
ChrX:69956687..69957126 [GRCh38]
ChrX:69176537..69176976 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic|uncertain significance |
| NM_001399.4(EDA):c.(?_-115)_(174_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000156918] |
ChrX:69616194..69616482 [GRCh38]
ChrX:68836038..68836326 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.4(EDA):c.(?_397-304)_(460_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000150589] |
ChrX:69956723..69957090 [GRCh38]
ChrX:69176573..69176940 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.4(EDA):c.(?_503)-88_(1176_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000150590] |
ChrX:70023130..70035609 [GRCh38]
ChrX:69242980..69255459 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.396+1G>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000155689] |
ChrX:69616705 [GRCh38]
ChrX:68836549 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| 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 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_001399.5(EDA):c.1069C>T (p.Arg357Trp) |
single nucleotide variant |
Abnormality of the dentition [RCV002287400]|Hypohidrotic X-linked ectodermal dysplasia [RCV000532383]|not provided [RCV000255432] |
ChrX:70035502 [GRCh38]
ChrX:69255352 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001399.5(EDA):c.707-1G>A |
single nucleotide variant |
not provided [RCV000255473] |
ChrX:70029503 [GRCh38]
ChrX:69249353 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.228_234delinsAA (p.Leu78fs) |
indel |
Hypohidrotic X-linked ectodermal dysplasia [RCV000552186] |
ChrX:69616536..69616542 [GRCh38]
ChrX:68836380..68836386 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) |
deletion |
Anhidrotic ectodermal dysplasia [RCV003235137]|Hypohidrotic X-linked ectodermal dysplasia [RCV000402007]|not provided [RCV000725905] |
ChrX:70027979..70027996 [GRCh38]
ChrX:69247839..69247856 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.5(EDA):c.960T>G (p.Tyr320Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000222108] |
ChrX:70035393 [GRCh38]
ChrX:69255243 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.319_322dup (p.Gln108fs) |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV000213343] |
ChrX:69616626..69616627 [GRCh38]
ChrX:68836470..68836471 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000213703]|not provided [RCV000479152] |
ChrX:70027973..70028008 [GRCh38]
ChrX:69247828..69247863 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.4(EDA):c.(?_707)_(741_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000213782] |
ChrX:70029504..70029538 [GRCh38]
ChrX:69249354..69249388 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.477A>T (p.Arg159Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000218495] |
ChrX:69957107 [GRCh38]
ChrX:69176957 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.1067C>T (p.Ala356Val) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000809933] |
ChrX:70035500 [GRCh38]
ChrX:69255350 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.5(EDA):c.911A>C (p.Tyr304Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000214953] |
ChrX:70033515 [GRCh38]
ChrX:69253365 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.866G>A (p.Arg289His) |
single nucleotide variant |
Anhidrotic ectodermal dysplasia [RCV003317157]|Hypohidrotic X-linked ectodermal dysplasia [RCV001054886]|Hypohidrotic X-linked ectodermal dysplasia [RCV001248822]|Partial congenital absence of teeth [RCV000223248]|not provided [RCV003886387] |
ChrX:70033470 [GRCh38]
ChrX:69253320 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.5(EDA):c.1001G>C (p.Arg334Pro) |
single nucleotide variant |
not specified [RCV000223353] |
ChrX:70035434 [GRCh38]
ChrX:69255284 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.527-6T>G |
single nucleotide variant |
not specified [RCV000215203] |
ChrX:70027851 [GRCh38]
ChrX:69247701 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.252del (p.Gly85fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000821716]|Tooth agenesis, selective, X-linked, 1 [RCV002466577]|not provided [RCV000757206] |
ChrX:69616560 [GRCh38]
ChrX:68836404 [GRCh37]
ChrX:Xq13.1 |
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:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq12-13.1(chrX:64927267-69276852)x3 |
copy number gain |
See cases [RCV000239973] |
ChrX:64927267..69276852 [GRCh37]
ChrX:Xq12-13.1 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 |
copy number loss |
See cases [RCV000511311] |
ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1 |
pathogenic |
| GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 |
copy number gain |
See cases [RCV000240019] |
ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1 |
pathogenic |
| NM_001399.5(EDA):c.776C>A (p.Ala259Glu) |
single nucleotide variant |
Tooth agenesis, selective, X-linked, 1 [RCV000239463] |
ChrX:70030503 [GRCh38]
ChrX:69250353 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.755A>T (p.His252Leu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000239466] |
ChrX:70030482 [GRCh38]
ChrX:69250332 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.865C>T (p.Arg289Cys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000692210]|Tooth agenesis, selective, X-linked, 1 [RCV000239506] |
ChrX:70033469 [GRCh38]
ChrX:69253319 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.5(EDA):c.1001G>A (p.Arg334His) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000864637]|Hypohidrotic X-linked ectodermal dysplasia [RCV002494688]|See cases [RCV002252063]|Tooth agenesis, selective, X-linked, 1 [RCV000239557]|not provided [RCV001573758] |
ChrX:70035434 [GRCh38]
ChrX:69255284 [GRCh37]
ChrX:Xq13.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| 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:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..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 |
| NM_001399.5(EDA):c.706+1G>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000525670]|not provided [RCV000256169] |
ChrX:70028037 [GRCh38]
ChrX:69247887 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely 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 |
| NM_001399.5(EDA):c.381C>T (p.Ser127=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000864856]|not provided [RCV001640513]|not specified [RCV000242422] |
ChrX:69616689 [GRCh38]
ChrX:68836533 [GRCh37]
ChrX:Xq13.1 |
benign |
| GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.1(chrX:69250807-69256658)x1 |
copy number loss |
See cases [RCV000240590] |
ChrX:69250807..69256658 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.872G>A (p.Gly291Glu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001347864]|not provided [RCV000378927] |
ChrX:70033476 [GRCh38]
ChrX:69253326 [GRCh37]
ChrX:Xq13.1 |
pathogenic|uncertain significance |
| NM_001399.5(EDA):c.741G>T (p.Gln247His) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001859549]|not provided [RCV000368754] |
ChrX:70029538 [GRCh38]
ChrX:69249388 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.931T>C (p.Tyr311His) |
single nucleotide variant |
not provided [RCV000489664]|not specified [RCV003479140] |
ChrX:70035364 [GRCh38]
ChrX:69255214 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic|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_001399.5(EDA):c.390del (p.His131fs) |
deletion |
not provided [RCV000598642] |
ChrX:69616696 [GRCh38]
ChrX:68836540 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.958_1005del (p.Tyr320_Ser335del) |
deletion |
not provided [RCV000599077] |
ChrX:70035387..70035434 [GRCh38]
ChrX:69255237..69255284 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.521_522delinsT (p.Lys174fs) |
indel |
Hypohidrotic X-linked ectodermal dysplasia [RCV000530627] |
ChrX:70023236..70023237 [GRCh38]
ChrX:69243086..69243087 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.628G>T (p.Gly210Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000536911] |
ChrX:70027958 [GRCh38]
ChrX:69247808 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.827G>T (p.Arg276Leu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001865280]|not provided [RCV000413141] |
ChrX:70033431 [GRCh38]
ChrX:69253281 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.5(EDA):c.1123A>G (p.Lys375Glu) |
single nucleotide variant |
not provided [RCV000413158] |
ChrX:70035556 [GRCh38]
ChrX:69255406 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.769G>C (p.Gly257Arg) |
single nucleotide variant |
not provided [RCV000413515] |
ChrX:70030496 [GRCh38]
ChrX:69250346 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.245del (p.Gly82fs) |
deletion |
not provided [RCV000413757] |
ChrX:69616551 [GRCh38]
ChrX:68836395 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.932A>C (p.Tyr311Ser) |
single nucleotide variant |
not provided [RCV000414008] |
ChrX:70035365 [GRCh38]
ChrX:69255215 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28 |
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 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:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001399.5(EDA):c.494G>C (p.Gly165Ala) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000822954]|not provided [RCV000432953] |
ChrX:69957124 [GRCh38]
ChrX:69176974 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001399.5(EDA):c.617C>T (p.Pro206Leu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000526582]|not provided [RCV000439320] |
ChrX:70027947 [GRCh38]
ChrX:69247797 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 |
copy number loss |
See cases [RCV000448870] |
ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_001399.5(EDA):c.1144G>A (p.Ala382Thr) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001851133]|not provided [RCV000480786] |
ChrX:70035577 [GRCh38]
ChrX:69255427 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.764G>A (p.Gly255Asp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003522980]|not provided [RCV000480945] |
ChrX:70030491 [GRCh38]
ChrX:69250341 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.923A>G (p.Glu308Gly) |
single nucleotide variant |
not provided [RCV000483933] |
ChrX:70033527 [GRCh38]
ChrX:69253377 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.917A>G (p.Gln306Arg) |
single nucleotide variant |
not provided [RCV000478625] |
ChrX:70033521 [GRCh38]
ChrX:69253371 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.1137C>A (p.Phe379Leu) |
single nucleotide variant |
not provided [RCV000486913] |
ChrX:70035570 [GRCh38]
ChrX:69255420 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000805136]|not provided [RCV000487168] |
ChrX:70027931..70027948 [GRCh38]
ChrX:69247781..69247798 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 Xq13.1(chrX:68674333-69197209)x3 |
copy number gain |
See cases [RCV000510532] |
ChrX:68674333..69197209 [GRCh37]
ChrX:Xq13.1 |
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 |
| NM_001399.5(EDA):c.922G>T (p.Glu308Ter) |
single nucleotide variant |
not provided [RCV000493660] |
ChrX:70033526 [GRCh38]
ChrX:69253376 [GRCh37]
ChrX:Xq13.1 |
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 |
| GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 |
copy number loss |
See cases [RCV000512026] |
ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1 |
pathogenic |
| GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28 |
pathogenic|uncertain significance |
| 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 Xp11.21-q28(chrX:57511767-155233731)x3 |
copy number gain |
See cases [RCV000510826] |
ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-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 Xq13.1(chrX:68903474-69583031)x3 |
copy number gain |
See cases [RCV000511184] |
ChrX:68903474..69583031 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.180C>A (p.Cys60Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000494692] |
ChrX:69616488 [GRCh38]
ChrX:68836332 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.941T>C (p.Phe314Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000633504]|Inborn genetic diseases [RCV001266104] |
ChrX:70035374 [GRCh38]
ChrX:69255224 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.301C>T (p.Pro101Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000633509] |
ChrX:69616609 [GRCh38]
ChrX:68836453 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.1070G>A (p.Arg357Gln) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000633510] |
ChrX:70035503 [GRCh38]
ChrX:69255353 [GRCh37]
ChrX:Xq13.1 |
benign |
| NC_000023.10:g.(?_69080668)_(69177002_?)dup |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV000539041] |
ChrX:69080668..69177002 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| NM_001399.5(EDA):c.681_697del (p.Pro228fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000633501] |
ChrX:70028008..70028024 [GRCh38]
ChrX:69247858..69247874 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.239dup (p.Ser81fs) |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV000633502] |
ChrX:69616545..69616546 [GRCh38]
ChrX:68836389..68836390 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.853A>G (p.Lys285Glu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000633506] |
ChrX:70033457 [GRCh38]
ChrX:69253307 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.613A>T (p.Ile205Phe) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000633507] |
ChrX:70027943 [GRCh38]
ChrX:69247793 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NC_000023.10:g.(?_68836133)_(69255479_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000633511] |
ChrX:68836133..69255479 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NC_000023.11:g.(?_69616289)_(69670280_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000633512] |
ChrX:69616289..69670280 [GRCh38]
ChrX:68836133..68890124 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NC_000023.10:g.(?_68890034)_(69177002_?)dup |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV000633513] |
ChrX:68890034..69177002 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.560dup (p.Pro188fs) |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV000537831] |
ChrX:70027887..70027888 [GRCh38]
ChrX:69247737..69247738 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.814A>G (p.Asn272Asp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000540530] |
ChrX:70033418 [GRCh38]
ChrX:69253268 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.1127A>G (p.His376Arg) |
single nucleotide variant |
not specified [RCV000610250] |
ChrX:70035560 [GRCh38]
ChrX:69255410 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.998C>G (p.Thr333Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002295301]|not provided [RCV000524024] |
ChrX:70035431 [GRCh38]
ChrX:69255281 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) |
copy number loss |
See cases [RCV000512142] |
ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3 |
pathogenic |
| NM_001399.5(EDA):c.741G>A (p.Gln247=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000633505] |
ChrX:70029538 [GRCh38]
ChrX:69249388 [GRCh37]
ChrX:Xq13.1 |
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 |
| NM_001399.5(EDA):c.741+2T>C |
single nucleotide variant |
not provided [RCV001781022] |
ChrX:70029540 [GRCh38]
ChrX:69249390 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 |
copy number gain |
not provided [RCV000684261] |
ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31 |
pathogenic |
| GRCh37/hg19 Xq13.1(chrX:69013432-69431334)x1 |
copy number loss |
not provided [RCV000684344] |
ChrX:69013432..69431334 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.798T>C (p.Leu266=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001814652] |
ChrX:70033402 [GRCh38]
ChrX:69253252 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001399.5(EDA):c.641T>A (p.Met214Lys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000701321] |
ChrX:70027971 [GRCh38]
ChrX:69247821 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic|uncertain significance |
| NM_001399.5(EDA):c.1133C>T (p.Thr378Met) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000707398] |
ChrX:70035566 [GRCh38]
ChrX:69255416 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.97C>T (p.Arg33Trp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000707582] |
ChrX:69616405 [GRCh38]
ChrX:68836249 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.526+5G>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000705031] |
ChrX:70023246 [GRCh38]
ChrX:69243096 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.1106T>A (p.Ile369Asn) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000689230] |
ChrX:70035539 [GRCh38]
ChrX:69255389 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.527-2A>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000689256] |
ChrX:70027855 [GRCh38]
ChrX:69247705 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.242C>T (p.Ser81Leu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000698298] |
ChrX:69616550 [GRCh38]
ChrX:68836394 [GRCh37]
ChrX:Xq13.1 |
likely benign|uncertain significance |
| NM_001399.5(EDA):c.459dup (p.Val154fs) |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV000690283] |
ChrX:69957088..69957089 [GRCh38]
ChrX:69176938..69176939 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.167T>A (p.Leu56Gln) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000690311] |
ChrX:69616475 [GRCh38]
ChrX:68836319 [GRCh37]
ChrX:Xq13.1 |
pathogenic|uncertain significance |
| NM_001399.5(EDA):c.396+4dup |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV000697029] |
ChrX:69616707..69616708 [GRCh38]
ChrX:68836551..68836552 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.986T>C (p.Phe329Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000706370] |
ChrX:70035419 [GRCh38]
ChrX:69255269 [GRCh37]
ChrX:Xq13.1 |
pathogenic|uncertain significance |
| GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 |
copy number loss |
not provided [RCV000846274] |
ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 |
copy number loss |
not provided [RCV000753535] |
ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2 |
pathogenic |
| NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3 |
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:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| 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_001399.5(EDA):c.526+203C>T |
single nucleotide variant |
not provided [RCV001707025] |
ChrX:70023444 [GRCh38]
ChrX:69243294 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.458G>A (p.Arg153His) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000990854]|not provided [RCV002293495] |
ChrX:69957088 [GRCh38]
ChrX:69176938 [GRCh37]
ChrX:Xq13.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001399.5(EDA):c.161A>T (p.His54Leu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000761232] |
ChrX:69616469 [GRCh38]
ChrX:68836313 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.607C>A (p.Pro203Thr) |
single nucleotide variant |
not provided [RCV001551029] |
ChrX:70027937 [GRCh38]
ChrX:69247787 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.1142G>A (p.Gly381Glu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000990857] |
ChrX:70035575 [GRCh38]
ChrX:69255425 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.924+45G>A |
single nucleotide variant |
not provided [RCV001663271] |
ChrX:70033573 [GRCh38]
ChrX:69253423 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.396+308dup |
duplication |
not provided [RCV001691708] |
ChrX:69617006..69617007 [GRCh38]
ChrX:68836850..68836851 [GRCh37]
ChrX:Xq13.1 |
benign |
| NC_000023.11:g.(?_69957007)_(69957152_?)dup |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV001031109] |
ChrX:69176857..69177002 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.894C>T (p.Asp298=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001482408] |
ChrX:70033498 [GRCh38]
ChrX:69253348 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1104C>T (p.Asp368=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000877695] |
ChrX:70035537 [GRCh38]
ChrX:69255387 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.1014G>A (p.Thr338=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001518214] |
ChrX:70035447 [GRCh38]
ChrX:69255297 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.318T>C (p.Leu106=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002065674] |
ChrX:69616626 [GRCh38]
ChrX:68836470 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1168G>A (p.Ala390Thr) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000949205]|Inborn genetic diseases [RCV002548240] |
ChrX:70035601 [GRCh38]
ChrX:69255451 [GRCh37]
ChrX:Xq13.1 |
likely benign|uncertain significance |
| NM_001399.5(EDA):c.804T>C (p.Gly268=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000928360] |
ChrX:70033408 [GRCh38]
ChrX:69253258 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.608C>T (p.Pro203Leu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001053348] |
ChrX:70027938 [GRCh38]
ChrX:69247788 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.396+5G>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001058930] |
ChrX:69616709 [GRCh38]
ChrX:68836553 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NC_000023.11:g.(?_69957017)_(69957142_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001032600] |
ChrX:69176867..69176992 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NC_000023.11:g.(?_69957007)_(69957152_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000817944] |
ChrX:69957007..69957152 [GRCh38]
ChrX:69176857..69177002 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| 46,Y,inv(X)(p21.1q13.3) |
inversion |
Elevated circulating creatine kinase concentration [RCV000856573] |
ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3 |
likely pathogenic |
| NM_001399.5(EDA):c.354G>C (p.Pro118=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001452110] |
ChrX:69616662 [GRCh38]
ChrX:68836506 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.956G>A (p.Ser319Asn) |
single nucleotide variant |
Tooth agenesis, selective, X-linked, 1 [RCV000767532] |
ChrX:70035389 [GRCh38]
ChrX:69255239 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.995G>A (p.Cys332Tyr) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000802915] |
ChrX:70035428 [GRCh38]
ChrX:69255278 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NC_000023.11:g.(?_70035338)_(70035629_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000798826] |
ChrX:70035338..70035629 [GRCh38]
ChrX:69255188..69255479 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.1080C>T (p.Ile360=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000915902] |
ChrX:70035513 [GRCh38]
ChrX:69255363 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NC_000023.10:g.(?_68890034)_(69177002_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000807929] |
ChrX:68890034..69177002 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.670G>C (p.Gly224Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000822121] |
ChrX:70028000 [GRCh38]
ChrX:69247850 [GRCh37]
ChrX:Xq13.1 |
pathogenic|uncertain significance |
| NC_000023.10:g.(?_69080668)_(69177002_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000810003] |
ChrX:69080668..69177002 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| GRCh37/hg19 Xq13.1(chrX:68412592-68896604)x2 |
copy number gain |
not provided [RCV000848118] |
ChrX:68412592..68896604 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1 |
copy number loss |
not provided [RCV000849932] |
ChrX:61882086..69173640 [GRCh37]
ChrX:Xq11.1-13.1 |
pathogenic |
| NM_001399.5(EDA):c.605_631del (p.Ile202_Gly210del) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000823338] |
ChrX:70027928..70027954 [GRCh38]
ChrX:69247778..69247804 [GRCh37]
ChrX:Xq13.1 |
pathogenic|uncertain significance |
| NM_001399.5(EDA):c.876_893del (p.Glu292_Val297del) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000804623] |
ChrX:70033477..70033494 [GRCh38]
ChrX:69253327..69253344 [GRCh37]
ChrX:Xq13.1 |
pathogenic|uncertain significance |
| NM_001399.5(EDA):c.706+5G>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000810069] |
ChrX:70028041 [GRCh38]
ChrX:69247891 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.413_416del (p.Phe138fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001067640] |
ChrX:69957041..69957044 [GRCh38]
ChrX:69176891..69176894 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.181T>A (p.Tyr61Asn) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000812806] |
ChrX:69616489 [GRCh38]
ChrX:68836333 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.526+5G>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000799606] |
ChrX:70023246 [GRCh38]
ChrX:69243096 [GRCh37]
ChrX:Xq13.1 |
pathogenic|uncertain significance |
| NM_001399.5(EDA):c.599del (p.Pro200fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000807385] |
ChrX:70027925 [GRCh38]
ChrX:69247775 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.135T>C (p.Gly45=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000938994] |
ChrX:69616443 [GRCh38]
ChrX:68836287 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.741+125G>T |
single nucleotide variant |
not provided [RCV001608816] |
ChrX:70029663 [GRCh38]
ChrX:69249513 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.503-2del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000809260] |
ChrX:70023216 [GRCh38]
ChrX:69243066 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.628G>C (p.Gly210Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000809567] |
ChrX:70027958 [GRCh38]
ChrX:69247808 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 |
copy number loss |
not provided [RCV000845670] |
ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32 |
pathogenic |
| GRCh37/hg19 Xq13.1(chrX:68492582-68912098)x3 |
copy number gain |
not provided [RCV000848252] |
ChrX:68492582..68912098 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| GRCh37/hg19 Xq13.1(chrX:69069027-69290373)x2 |
copy number gain |
not provided [RCV000849524] |
ChrX:69069027..69290373 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.148T>G (p.Ser50Ala) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001242590] |
ChrX:69616456 [GRCh38]
ChrX:68836300 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.901T>G (p.Tyr301Asp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001224654] |
ChrX:70033505 [GRCh38]
ChrX:69253355 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.134G>A (p.Gly45Asp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001230087] |
ChrX:69616442 [GRCh38]
ChrX:68836286 [GRCh37]
ChrX:Xq13.1 |
pathogenic|uncertain significance |
| NM_001399.5(EDA):c.686dup (p.Gly230fs) |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV000852303] |
ChrX:70028011..70028012 [GRCh38]
ChrX:69247861..69247862 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 |
copy number loss |
not provided [RCV000848218] |
ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
uncertain significance |
| NM_001399.5(EDA):c.1035_1046del (p.Cys346_Ala349del) |
deletion |
not provided [RCV003312771] |
ChrX:70035467..70035478 [GRCh38]
ChrX:69255317..69255328 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.961G>A (p.Glu321Lys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000990856] |
ChrX:70035394 [GRCh38]
ChrX:69255244 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.526+1del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV000995764] |
ChrX:70023240 [GRCh38]
ChrX:69243090 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.447del (p.Glu150fs) |
deletion |
not provided [RCV000995937] |
ChrX:69957076 [GRCh38]
ChrX:69176926 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.286del (p.Leu96fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003110184] |
ChrX:69616593 [GRCh38]
ChrX:68836437 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.800C>G (p.Ser267Ter) |
single nucleotide variant |
not provided [RCV001576911] |
ChrX:70033404 [GRCh38]
ChrX:69253254 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NC_000023.10:g.(?_68836153)_(68836568_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003107393] |
ChrX:68836153..68836568 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NC_000023.10:g.(?_69176857)_(69255459_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003107394] |
ChrX:69176857..69255459 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.924+219T>A |
single nucleotide variant |
not provided [RCV001720733] |
ChrX:70033747 [GRCh38]
ChrX:69253597 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.396+53499C>T |
single nucleotide variant |
not provided [RCV001684266] |
ChrX:69670203 [GRCh38]
ChrX:68890047 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.924+210T>C |
single nucleotide variant |
not provided [RCV001723120] |
ChrX:70033738 [GRCh38]
ChrX:69253588 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.527-25dup |
duplication |
not provided [RCV001721696] |
ChrX:70027822..70027823 [GRCh38]
ChrX:69247672..69247673 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.396+53200A>C |
single nucleotide variant |
not provided [RCV001721727] |
ChrX:69669904 [GRCh38]
ChrX:68889748 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.527-291T>A |
single nucleotide variant |
not provided [RCV001709409] |
ChrX:70027566 [GRCh38]
ChrX:69247416 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.1045G>T (p.Ala349Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001964125] |
ChrX:70035478 [GRCh38]
ChrX:69255328 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.741+168C>T |
single nucleotide variant |
not provided [RCV001684048] |
ChrX:70029706 [GRCh38]
ChrX:69249556 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.397-96293T>C |
single nucleotide variant |
not provided [RCV001614567] |
ChrX:69860734 [GRCh38]
ChrX:69080565 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.1150A>G (p.Arg384Gly) |
single nucleotide variant |
not provided [RCV001531159] |
ChrX:70035583 [GRCh38]
ChrX:69255433 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.469A>G (p.Asn157Asp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000955123] |
ChrX:69957099 [GRCh38]
ChrX:69176949 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.870C>T (p.Ser290=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000952222] |
ChrX:70033474 [GRCh38]
ChrX:69253324 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.602G>A (p.Gly201Glu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001543630] |
ChrX:70027932 [GRCh38]
ChrX:69247782 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.390G>T (p.Gly130=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000952363] |
ChrX:69616698 [GRCh38]
ChrX:68836542 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.464G>A (p.Arg155His) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV000870968]|not provided [RCV003225133] |
ChrX:69957094 [GRCh38]
ChrX:69176944 [GRCh37]
ChrX:Xq13.1 |
benign|uncertain significance |
| NM_001399.5(EDA):c.503-4A>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001470679] |
ChrX:70023214 [GRCh38]
ChrX:69243064 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001237730]|not provided [RCV003145458] |
ChrX:70035609 [GRCh38]
ChrX:69255459 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.924+5G>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001221516] |
ChrX:70033533 [GRCh38]
ChrX:69253383 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.707-2A>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001543632] |
ChrX:70029502 [GRCh38]
ChrX:69249352 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.953C>A (p.Ala318Asp) |
single nucleotide variant |
not provided [RCV001574769] |
ChrX:70035386 [GRCh38]
ChrX:69255236 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.397-96018= |
single nucleotide variant |
not provided [RCV001621247] |
ChrX:69861009 [GRCh38]
ChrX:69080840 [GRCh37]
ChrX:Xq13.1 |
benign |
| GRCh37/hg19 Xq13.1(chrX:69216192-69529923)x3 |
copy number gain |
not provided [RCV002473475] |
ChrX:69216192..69529923 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.628G>A (p.Gly210Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001543631] |
ChrX:70027958 [GRCh38]
ChrX:69247808 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.396+53700C>T |
single nucleotide variant |
not provided [RCV001722927] |
ChrX:69670404 [GRCh38]
ChrX:68890248 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.526+27T>A |
single nucleotide variant |
not provided [RCV001723118] |
ChrX:70023268 [GRCh38]
ChrX:69243118 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.707-13T>G |
single nucleotide variant |
EDA-related condition [RCV003399399]|Hypohidrotic X-linked ectodermal dysplasia [RCV001866231]|not provided [RCV001590523] |
ChrX:70029491 [GRCh38]
ChrX:69249341 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001399.5(EDA):c.794-11C>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523101]|not provided [RCV001637771] |
ChrX:70033387 [GRCh38]
ChrX:69253237 [GRCh37]
ChrX:Xq13.1 |
benign|likely benign |
| NM_001399.5(EDA):c.741+47G>C |
single nucleotide variant |
not provided [RCV001637820] |
ChrX:70029585 [GRCh38]
ChrX:69249435 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.929A>G (p.Tyr310Cys) |
single nucleotide variant |
not provided [RCV001588213] |
ChrX:70035362 [GRCh38]
ChrX:69255212 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.503-279A>G |
single nucleotide variant |
not provided [RCV001620817] |
ChrX:70022939 [GRCh38]
ChrX:69242789 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.924+38G>A |
single nucleotide variant |
not provided [RCV001718264] |
ChrX:70033566 [GRCh38]
ChrX:69253416 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.610G>A (p.Gly204Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001070620] |
ChrX:70027940 [GRCh38]
ChrX:69247790 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.396+53750C>G |
single nucleotide variant |
not provided [RCV001684472] |
ChrX:69670454 [GRCh38]
ChrX:68890298 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.*34C>T |
single nucleotide variant |
not provided [RCV001684752] |
ChrX:70035643 [GRCh38]
ChrX:69255493 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.673_706+2del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001050766] |
ChrX:70027998..70028033 [GRCh38]
ChrX:69247848..69247883 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.589del (p.Gln197fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001051941] |
ChrX:70027916 [GRCh38]
ChrX:69247766 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.271dup (p.Ser91fs) |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV001236250] |
ChrX:69616577..69616578 [GRCh38]
ChrX:68836421..68836422 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.11del (p.Pro4fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV002250713]|not provided [RCV001008390] |
ChrX:69616317 [GRCh38]
ChrX:68836161 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.1116C>G (p.Asn372Lys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001040957] |
ChrX:70035549 [GRCh38]
ChrX:69255399 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.5(EDA):c.-36_47del (p.Met1fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001213126] |
ChrX:69616271..69616353 [GRCh38]
ChrX:68836115..68836197 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| GRCh37/hg19 Xq13.1(chrX:69218433-69535034)x3 |
copy number gain |
not provided [RCV001259002] |
ChrX:69218433..69535034 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.620G>A (p.Gly207Glu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001291628] |
ChrX:70027950 [GRCh38]
ChrX:69247800 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 |
copy number loss |
not provided [RCV001537933] |
ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| 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 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001399.5(EDA):c.914G>A (p.Ser305Asn) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001348345] |
ChrX:70033518 [GRCh38]
ChrX:69253368 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.249C>G (p.Thr83=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001279975] |
ChrX:69616557 [GRCh38]
ChrX:68836401 [GRCh37]
ChrX:Xq13.1 |
likely benign|uncertain significance |
| GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) |
copy number loss |
Turner syndrome [RCV002280672] |
ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| NM_001399.5(EDA):c.492del (p.Gly165fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001291627] |
ChrX:69957121 [GRCh38]
ChrX:69176971 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.1152G>T (p.Arg384Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001314954] |
ChrX:70035585 [GRCh38]
ChrX:69255435 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic|uncertain significance |
| NM_001399.5(EDA):c.950T>G (p.Phe317Cys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001351638] |
ChrX:70035383 [GRCh38]
ChrX:69255233 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.1041T>C (p.Tyr347=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001394678] |
ChrX:70035474 [GRCh38]
ChrX:69255324 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.57G>A (p.Glu19=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001396633] |
ChrX:69616365 [GRCh38]
ChrX:68836209 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| 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_001399.5(EDA):c.121C>T (p.Leu41=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001433366] |
ChrX:69616429 [GRCh38]
ChrX:68836273 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.396+10C>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001279976] |
ChrX:69616714 [GRCh38]
ChrX:68836558 [GRCh37]
ChrX:Xq13.1 |
likely benign|uncertain significance |
| NM_001399.5(EDA):c.1A>G (p.Met1Val) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001383222] |
ChrX:69616309 [GRCh38]
ChrX:68836153 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.643G>T (p.Gly215Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001383223] |
ChrX:70027973 [GRCh38]
ChrX:69247823 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.632C>G (p.Thr211Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001383224] |
ChrX:70027962 [GRCh38]
ChrX:69247812 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.801A>G (p.Ser267=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001383225] |
ChrX:70033405 [GRCh38]
ChrX:69253255 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.924+8C>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001370663] |
ChrX:70033536 [GRCh38]
ChrX:69253386 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.852T>C (p.Phe284=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001421881] |
ChrX:70033456 [GRCh38]
ChrX:69253306 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.866_867delinsAA (p.Arg289Gln) |
indel |
Hypohidrotic X-linked ectodermal dysplasia [RCV001325764] |
ChrX:70033470..70033471 [GRCh38]
ChrX:69253320..69253321 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.456G>A (p.Arg152=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001413589] |
ChrX:69957086 [GRCh38]
ChrX:69176936 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1124A>G (p.Lys375Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001509711] |
ChrX:70035557 [GRCh38]
ChrX:69255407 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.234T>C (p.Leu78=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001468547] |
ChrX:69616542 [GRCh38]
ChrX:68836386 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.576_592del (p.Pro193fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001385220] |
ChrX:70027899..70027915 [GRCh38]
ChrX:69247749..69247765 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.706+10_706+11del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001478806] |
ChrX:70028044..70028045 [GRCh38]
ChrX:69247894..69247895 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.528A>G (p.Gly176=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001425722] |
ChrX:70027858 [GRCh38]
ChrX:69247708 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.503-5T>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001454742] |
ChrX:70023213 [GRCh38]
ChrX:69243063 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.435A>G (p.Pro145=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001522025] |
ChrX:69957065 [GRCh38]
ChrX:69176915 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.216_220del (p.Gly73fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001390512] |
ChrX:69616523..69616527 [GRCh38]
ChrX:68836367..68836371 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.132G>C (p.Leu44=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001521202] |
ChrX:69616440 [GRCh38]
ChrX:68836284 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.526+10T>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001521579] |
ChrX:70023251 [GRCh38]
ChrX:69243101 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.366A>C (p.Ala122=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001401129] |
ChrX:69616674 [GRCh38]
ChrX:68836518 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.834T>G (p.Thr278=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001429274] |
ChrX:70033438 [GRCh38]
ChrX:69253288 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.449A>G (p.Glu150Gly) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001426805] |
ChrX:69957079 [GRCh38]
ChrX:69176929 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.371A>G (p.His124Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001440387] |
ChrX:69616679 [GRCh38]
ChrX:68836523 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.570C>T (p.Pro190=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001437946] |
ChrX:70027900 [GRCh38]
ChrX:69247750 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.403C>T (p.Leu135=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001424385] |
ChrX:69957033 [GRCh38]
ChrX:69176883 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.258C>T (p.Thr86=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001419593] |
ChrX:69616566 [GRCh38]
ChrX:68836410 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.441dup (p.Glu148Ter) |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV001384513] |
ChrX:69957070..69957071 [GRCh38]
ChrX:69176920..69176921 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.858A>G (p.Leu286=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001418358] |
ChrX:70033462 [GRCh38]
ChrX:69253312 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.864C>T (p.Pro288=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001446265] |
ChrX:70033468 [GRCh38]
ChrX:69253318 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.223G>T (p.Glu75Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001389869] |
ChrX:69616531 [GRCh38]
ChrX:68836375 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.582A>T (p.Pro194=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001426751] |
ChrX:70027912 [GRCh38]
ChrX:69247762 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.546T>C (p.Pro182=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001423660] |
ChrX:70027876 [GRCh38]
ChrX:69247726 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.346T>C (p.Leu116=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001441987] |
ChrX:69616654 [GRCh38]
ChrX:68836498 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.213del (p.Glu71fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001384052] |
ChrX:69616520 [GRCh38]
ChrX:68836364 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.777A>C (p.Ala259=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001424019] |
ChrX:70030504 [GRCh38]
ChrX:69250354 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.486_487insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAAAAGC (p.Asn163delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer) |
microsatellite |
Hypohidrotic X-linked ectodermal dysplasia [RCV001380695] |
ChrX:69957101..69957102 [GRCh38]
ChrX:69176951..69176952 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.1137C>T (p.Phe379=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001409172] |
ChrX:70035570 [GRCh38]
ChrX:69255420 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.741+9G>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001514573] |
ChrX:70029547 [GRCh38]
ChrX:69249397 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.502+10C>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001515102] |
ChrX:69957142 [GRCh38]
ChrX:69176992 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.707-9A>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001482338] |
ChrX:70029495 [GRCh38]
ChrX:69249345 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.924+215C>A |
single nucleotide variant |
not provided [RCV001615029] |
ChrX:70033743 [GRCh38]
ChrX:69253593 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.759A>G (p.Leu253=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001496820] |
ChrX:70030486 [GRCh38]
ChrX:69250336 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.277C>T (p.Leu93Phe) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001521316] |
ChrX:69616585 [GRCh38]
ChrX:68836429 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.741+5G>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001459353] |
ChrX:70029543 [GRCh38]
ChrX:69249393 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.345A>G (p.Pro115=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001469870] |
ChrX:69616653 [GRCh38]
ChrX:68836497 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.527-306G>A |
single nucleotide variant |
not provided [RCV001716390] |
ChrX:70027551 [GRCh38]
ChrX:69247401 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.1083C>T (p.Ala361=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001517348] |
ChrX:70035516 [GRCh38]
ChrX:69255366 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.1098C>T (p.His366=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001517657] |
ChrX:70035531 [GRCh38]
ChrX:69255381 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.503-8T>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001456924] |
ChrX:70023210 [GRCh38]
ChrX:69243060 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.925-296A>G |
single nucleotide variant |
not provided [RCV001650134] |
ChrX:70035062 [GRCh38]
ChrX:69254912 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.1008C>T (p.Ile336=) |
single nucleotide variant |
EDA-related condition [RCV003980382]|Hypohidrotic X-linked ectodermal dysplasia [RCV001464084] |
ChrX:70035441 [GRCh38]
ChrX:69255291 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.527-221G>A |
single nucleotide variant |
not provided [RCV001666167] |
ChrX:70027636 [GRCh38]
ChrX:69247486 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.459T>C (p.Arg153=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001506035] |
ChrX:69957089 [GRCh38]
ChrX:69176939 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1071G>A (p.Arg357=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001495824] |
ChrX:70035504 [GRCh38]
ChrX:69255354 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.558C>T (p.Gly186=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001482233] |
ChrX:70027888 [GRCh38]
ChrX:69247738 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.833C>G (p.Thr278Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001521383] |
ChrX:70033437 [GRCh38]
ChrX:69253287 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.867C>A (p.Arg289=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001466039] |
ChrX:70033471 [GRCh38]
ChrX:69253321 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.234T>A (p.Leu78=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001461311] |
ChrX:69616542 [GRCh38]
ChrX:68836386 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1026C>T (p.Asn342=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001456103] |
ChrX:70035459 [GRCh38]
ChrX:69255309 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.497del (p.Ala166fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001383921]|not provided [RCV001806162] |
ChrX:69957127 [GRCh38]
ChrX:69176977 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.60A>C (p.Arg20=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001521868] |
ChrX:69616368 [GRCh38]
ChrX:68836212 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.1009G>T (p.Glu337Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001385708] |
ChrX:70035442 [GRCh38]
ChrX:69255292 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.1067C>A (p.Ala356Asp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001385709]|not provided [RCV003313222] |
ChrX:70035500 [GRCh38]
ChrX:69255350 [GRCh37]
ChrX:Xq13.1 |
pathogenic|likely pathogenic |
| NM_001399.5(EDA):c.614_699del (p.Ile205fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001384206] |
ChrX:70027936..70028021 [GRCh38]
ChrX:69247786..69247871 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.250_258del (p.Pro84_Thr86del) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001517886]|not provided [RCV002225842] |
ChrX:69616552..69616560 [GRCh38]
ChrX:68836396..68836404 [GRCh37]
ChrX:Xq13.1 |
benign|likely benign |
| NM_001399.5(EDA):c.585_697del (p.Pro196fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001389804] |
ChrX:70027907..70028019 [GRCh38]
ChrX:69247757..69247869 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.183C>T (p.Tyr61=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001489417] |
ChrX:69616491 [GRCh38]
ChrX:68836335 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.396+9C>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001466873] |
ChrX:69616713 [GRCh38]
ChrX:68836557 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.28G>A (p.Glu10Lys) |
single nucleotide variant |
not provided [RCV001763585] |
ChrX:69616336 [GRCh38]
ChrX:68836180 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.796C>T (p.Leu266Phe) |
single nucleotide variant |
not provided [RCV001787552] |
ChrX:70033400 [GRCh38]
ChrX:69253250 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.229del (p.Arg77fs) |
deletion |
not provided [RCV001781023] |
ChrX:69616535 [GRCh38]
ChrX:68836379 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.1174T>C (p.Ter392Gln) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001807899] |
ChrX:70035607 [GRCh38]
ChrX:69255457 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.-80G>T |
single nucleotide variant |
not provided [RCV001814869] |
ChrX:69616229 [GRCh38]
ChrX:68836073 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.552_578del (p.Asn185_Pro193del) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV002040038] |
ChrX:70027877..70027903 [GRCh38]
ChrX:69247727..69247753 [GRCh37]
ChrX:Xq13.1 |
pathogenic|uncertain significance |
| NM_001399.5(EDA):c.619G>A (p.Gly207Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001949391] |
ChrX:70027949 [GRCh38]
ChrX:69247799 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671) |
copy number gain |
not specified [RCV002053135] |
ChrX:61877278..79123671 [GRCh37]
ChrX:Xq11.1-21.1 |
pathogenic |
| NM_001399.5(EDA):c.1163C>A (p.Ala388Asp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001946463] |
ChrX:70035596 [GRCh38]
ChrX:69255446 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.1048G>T (p.Gly350Cys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002043477] |
ChrX:70035481 [GRCh38]
ChrX:69255331 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.973G>T (p.Asp325Tyr) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002044187] |
ChrX:70035406 [GRCh38]
ChrX:69255256 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.1074G>A (p.Gln358=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001965737] |
ChrX:70035507 [GRCh38]
ChrX:69255357 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.659C>T (p.Pro220Leu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001982885] |
ChrX:70027989 [GRCh38]
ChrX:69247839 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.1136T>C (p.Phe379Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001843310] |
ChrX:70035569 [GRCh38]
ChrX:69255419 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| 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 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV001834509] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001399.5(EDA):c.157C>T (p.Leu53Phe) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001893535]|Hypohidrotic X-linked ectodermal dysplasia [RCV002503530] |
ChrX:69616465 [GRCh38]
ChrX:68836309 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.526+1G>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001872188] |
ChrX:70023242 [GRCh38]
ChrX:69243092 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.1093G>A (p.Val365Met) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002002883]|Hypohidrotic X-linked ectodermal dysplasia [RCV002497951] |
ChrX:70035526 [GRCh38]
ChrX:69255376 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671) |
copy number gain |
not specified [RCV002053136] |
ChrX:61974855..79123671 [GRCh37]
ChrX:Xq11.1-21.1 |
pathogenic |
| NM_001399.5(EDA):c.794-1G>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002000768] |
ChrX:70033397 [GRCh38]
ChrX:69253247 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.924+1G>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001942878] |
ChrX:70033529 [GRCh38]
ChrX:69253379 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.595_613del (p.Pro199fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001958619] |
ChrX:70027918..70027936 [GRCh38]
ChrX:69247768..69247786 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.440C>G (p.Ser147Cys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001957075] |
ChrX:69957070 [GRCh38]
ChrX:69176920 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.935T>C (p.Ile312Thr) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002030805] |
ChrX:70035368 [GRCh38]
ChrX:69255218 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.326dup (p.Ser110fs) |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV001953549] |
ChrX:69616632..69616633 [GRCh38]
ChrX:68836476..68836477 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.916C>T (p.Gln306Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001956142] |
ChrX:70033520 [GRCh38]
ChrX:69253370 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NC_000023.10:g.(?_69235004)_(69247795_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001951527] |
ChrX:69235004..69247795 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NC_000023.10:g.(?_69243048)_(69247906_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001958613] |
ChrX:69243048..69247906 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.885_890del (p.Leu296_Val297del) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001961074] |
ChrX:70033486..70033491 [GRCh38]
ChrX:69253336..69253341 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.896G>A (p.Gly299Asp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001951402] |
ChrX:70033500 [GRCh38]
ChrX:69253350 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.473A>G (p.Lys158Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002046618] |
ChrX:69957103 [GRCh38]
ChrX:69176953 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.410A>T (p.Asn137Ile) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001903584] |
ChrX:69957040 [GRCh38]
ChrX:69176890 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NC_000023.10:g.(?_69255198)_(69255469_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV001866480] |
ChrX:69255198..69255469 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.163C>G (p.Leu55Val) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV001990370] |
ChrX:69616471 [GRCh38]
ChrX:68836315 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.958T>G (p.Tyr320Asp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002010068] |
ChrX:70035391 [GRCh38]
ChrX:69255241 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.777A>G (p.Ala259=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002186316] |
ChrX:70030504 [GRCh38]
ChrX:69250354 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.771G>A (p.Gly257=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002085478] |
ChrX:70030498 [GRCh38]
ChrX:69250348 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.879G>A (p.Leu293=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002207520] |
ChrX:70033483 [GRCh38]
ChrX:69253333 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.480C>G (p.Ser160Arg) |
single nucleotide variant |
Tooth agenesis, selective, X-linked, 1 [RCV002210930] |
ChrX:69957110 [GRCh38]
ChrX:69176960 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.925-6A>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002089334] |
ChrX:70035352 [GRCh38]
ChrX:69255202 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.249C>T (p.Thr83=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002166363] |
ChrX:69616557 [GRCh38]
ChrX:68836401 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.345A>T (p.Pro115=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002166825] |
ChrX:69616653 [GRCh38]
ChrX:68836497 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.684C>T (p.Pro228=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002087075] |
ChrX:70028014 [GRCh38]
ChrX:69247864 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.321G>A (p.Gly107=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002208135] |
ChrX:69616629 [GRCh38]
ChrX:68836473 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.56A>C (p.Glu19Ala) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002129409] |
ChrX:69616364 [GRCh38]
ChrX:68836208 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.588C>A (p.Pro196=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002186043] |
ChrX:70027918 [GRCh38]
ChrX:69247768 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.527-7T>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002092650] |
ChrX:70027850 [GRCh38]
ChrX:69247700 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.546T>G (p.Pro182=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002213014] |
ChrX:70027876 [GRCh38]
ChrX:69247726 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.669T>G (p.Pro223=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002193869] |
ChrX:70027999 [GRCh38]
ChrX:69247849 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.717T>G (p.Asp239Glu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002191571]|Inborn genetic diseases [RCV003089041] |
ChrX:70029514 [GRCh38]
ChrX:69249364 [GRCh37]
ChrX:Xq13.1 |
benign|uncertain significance |
| NM_001399.5(EDA):c.1035T>C (p.Thr345=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002094306] |
ChrX:70035468 [GRCh38]
ChrX:69255318 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.48G>A (p.Ala16=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002150140] |
ChrX:69616356 [GRCh38]
ChrX:68836200 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.744A>G (p.Pro248=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002079170] |
ChrX:70030471 [GRCh38]
ChrX:69250321 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.706+1G>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002226997] |
ChrX:70028037 [GRCh38]
ChrX:69247887 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.732A>T (p.Arg244=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002121905] |
ChrX:70029529 [GRCh38]
ChrX:69249379 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.924+9G>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002217373] |
ChrX:70033537 [GRCh38]
ChrX:69253387 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1099G>A (p.Ala367Thr) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002118581] |
ChrX:70035532 [GRCh38]
ChrX:69255382 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.66C>T (p.Ser22=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002178213] |
ChrX:69616374 [GRCh38]
ChrX:68836218 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.990G>A (p.Leu330=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002184143] |
ChrX:70035423 [GRCh38]
ChrX:69255273 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.707-5T>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002154680] |
ChrX:70029499 [GRCh38]
ChrX:69249349 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.808G>A (p.Val270Met) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002202135] |
ChrX:70033412 [GRCh38]
ChrX:69253262 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.111G>C (p.Gly37=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002178186] |
ChrX:69616419 [GRCh38]
ChrX:68836263 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.195C>A (p.Arg65=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002179827] |
ChrX:69616503 [GRCh38]
ChrX:68836347 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.714T>C (p.Ala238=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002201825] |
ChrX:70029511 [GRCh38]
ChrX:69249361 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1170A>G (p.Ala390=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002178024] |
ChrX:70035603 [GRCh38]
ChrX:69255453 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.111G>A (p.Gly37=) |
single nucleotide variant |
EDA-related condition [RCV003958777]|Hypohidrotic X-linked ectodermal dysplasia [RCV002141771] |
ChrX:69616419 [GRCh38]
ChrX:68836263 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.988C>T (p.Leu330=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002144352] |
ChrX:70035421 [GRCh38]
ChrX:69255271 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.826C>G (p.Arg276Gly) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003111851] |
ChrX:70033430 [GRCh38]
ChrX:69253280 [GRCh37]
ChrX:Xq13.1 |
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 |
| GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number gain |
46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] |
ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 |
copy number gain |
Klinefelter syndrome [RCV002282732] |
ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_001399.5(EDA):c.533_544del (p.Lys178_Pro182delinsThr) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV002290213] |
ChrX:70027863..70027874 [GRCh38]
ChrX:69247713..69247724 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.130del (p.Leu44fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV002287217] |
ChrX:69616437 [GRCh38]
ChrX:68836281 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 |
copy number loss |
See cases [RCV002286357] |
ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| NM_001399.5(EDA):c.570_578del (p.188PGP[2]) |
deletion |
not provided [RCV002291840] |
ChrX:70027892..70027900 [GRCh38]
ChrX:69247742..69247750 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.837G>A (p.Met279Ile) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002280809] |
ChrX:70033441 [GRCh38]
ChrX:69253291 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.52_53insTGCGA (p.Arg18fs) |
insertion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003153201] |
ChrX:69616360..69616361 [GRCh38]
ChrX:68836204..68836205 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| GRCh37/hg19 Xq13.1(chrX:68961570-69095884)x1 |
copy number loss |
not provided [RCV002473770] |
ChrX:68961570..69095884 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.865del (p.Arg289fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV002468704] |
ChrX:70033466 [GRCh38]
ChrX:69253316 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.1022C>T (p.Thr341Ile) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002303122] |
ChrX:70035455 [GRCh38]
ChrX:69255305 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.878T>G (p.Leu293Arg) |
single nucleotide variant |
Tooth agenesis, selective, 2 [RCV003233055] |
ChrX:70033482 [GRCh38]
ChrX:69253332 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.611G>A (p.Gly204Glu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002971884] |
ChrX:70027941 [GRCh38]
ChrX:69247791 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.540A>G (p.Gly180=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002816413] |
ChrX:70027870 [GRCh38]
ChrX:69247720 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.564A>G (p.Pro188=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002839580] |
ChrX:70027894 [GRCh38]
ChrX:69247744 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.924+8C>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002685667] |
ChrX:70033536 [GRCh38]
ChrX:69253386 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.928T>G (p.Tyr310Asp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002843238] |
ChrX:70035361 [GRCh38]
ChrX:69255211 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.886C>T (p.Leu296=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003033990] |
ChrX:70033490 [GRCh38]
ChrX:69253340 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.793+10A>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002842615] |
ChrX:70030530 [GRCh38]
ChrX:69250380 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.218G>C (p.Gly73Ala) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002949481] |
ChrX:69616526 [GRCh38]
ChrX:68836370 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.179G>A (p.Cys60Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002662244] |
ChrX:69616487 [GRCh38]
ChrX:68836331 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.552C>A (p.Pro184=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002796533] |
ChrX:70027882 [GRCh38]
ChrX:69247732 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.36G>A (p.Leu12=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003078678] |
ChrX:69616344 [GRCh38]
ChrX:68836188 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.867C>T (p.Arg289=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003078421] |
ChrX:70033471 [GRCh38]
ChrX:69253321 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1119G>T (p.Met373Ile) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003054113] |
ChrX:70035552 [GRCh38]
ChrX:69255402 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.354G>A (p.Pro118=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002620190] |
ChrX:69616662 [GRCh38]
ChrX:68836506 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.466_467delinsTC (p.Arg156Ser) |
indel |
Hypohidrotic X-linked ectodermal dysplasia [RCV002889258] |
ChrX:69957096..69957097 [GRCh38]
ChrX:69176946..69176947 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.753G>T (p.Val251=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002999618] |
ChrX:70030480 [GRCh38]
ChrX:69250330 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.805G>A (p.Gly269Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003019308] |
ChrX:70033409 [GRCh38]
ChrX:69253259 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.1144del (p.Ala382fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV002847768] |
ChrX:70035574 [GRCh38]
ChrX:69255424 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.759A>T (p.Leu253=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002745762] |
ChrX:70030486 [GRCh38]
ChrX:69250336 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.658C>G (p.Pro220Ala) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002933311] |
ChrX:70027988 [GRCh38]
ChrX:69247838 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.397-6T>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002828710] |
ChrX:69957021 [GRCh38]
ChrX:69176871 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1167T>G (p.Pro389=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003024709] |
ChrX:70035600 [GRCh38]
ChrX:69255450 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.827G>C (p.Arg276Pro) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002871973] |
ChrX:70033431 [GRCh38]
ChrX:69253281 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.11C>G (p.Pro4Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002954301] |
ChrX:69616319 [GRCh38]
ChrX:68836163 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.889_898del (p.Val297fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003031833] |
ChrX:70033493..70033502 [GRCh38]
ChrX:69253343..69253352 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.836T>G (p.Met279Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003064734] |
ChrX:70033440 [GRCh38]
ChrX:69253290 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic|uncertain significance |
| NM_001399.5(EDA):c.58C>T (p.Arg20Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003064733] |
ChrX:69616366 [GRCh38]
ChrX:68836210 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.1075A>G (p.Lys359Glu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003046413] |
ChrX:70035508 [GRCh38]
ChrX:69255358 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.872G>T (p.Gly291Val) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002834901] |
ChrX:70033476 [GRCh38]
ChrX:69253326 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.97C>A (p.Arg33=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003029712] |
ChrX:69616405 [GRCh38]
ChrX:68836249 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.924+20T>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002856386] |
ChrX:70033548 [GRCh38]
ChrX:69253398 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.607C>G (p.Pro203Ala) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003030341] |
ChrX:70027937 [GRCh38]
ChrX:69247787 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.871G>C (p.Gly291Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002601900] |
ChrX:70033475 [GRCh38]
ChrX:69253325 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.90C>A (p.Ala30=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003027154] |
ChrX:69616398 [GRCh38]
ChrX:68836242 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.198G>C (p.Ser66=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003088154] |
ChrX:69616506 [GRCh38]
ChrX:68836350 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1091T>C (p.Met364Thr) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003064735] |
ChrX:70035524 [GRCh38]
ChrX:69255374 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.106G>A (p.Glu36Lys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002601019] |
ChrX:69616414 [GRCh38]
ChrX:68836258 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.1036T>C (p.Cys346Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003031527] |
ChrX:70035469 [GRCh38]
ChrX:69255319 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.959A>C (p.Tyr320Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003010168] |
ChrX:70035392 [GRCh38]
ChrX:69255242 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.387C>G (p.Asp129Glu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003087523] |
ChrX:69616695 [GRCh38]
ChrX:68836539 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.904T>C (p.Phe302Leu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002746329] |
ChrX:70033508 [GRCh38]
ChrX:69253358 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.793+19del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003067016] |
ChrX:70030539 [GRCh38]
ChrX:69250389 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.28G>C (p.Glu10Gln) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003068851] |
ChrX:69616336 [GRCh38]
ChrX:68836180 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.873G>A (p.Gly291=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002584631] |
ChrX:70033477 [GRCh38]
ChrX:69253327 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.215G>A (p.Arg72His) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002654117] |
ChrX:69616523 [GRCh38]
ChrX:68836367 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.1119G>A (p.Met373Ile) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003050619] |
ChrX:70035552 [GRCh38]
ChrX:69255402 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.42A>G (p.Ala14=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002633895] |
ChrX:69616350 [GRCh38]
ChrX:68836194 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.39T>C (p.Pro13=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV002633894] |
ChrX:69616347 [GRCh38]
ChrX:68836191 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1068C>T (p.Ala356=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003066979] |
ChrX:70035501 [GRCh38]
ChrX:69255351 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.917A>C (p.Gln306Pro) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003050618] |
ChrX:70033521 [GRCh38]
ChrX:69253371 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.634A>G (p.Thr212Ala) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003142538] |
ChrX:70027964 [GRCh38]
ChrX:69247814 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.4delinsAT (p.Gly2fs) |
indel |
Hypohidrotic X-linked ectodermal dysplasia [RCV003140411] |
ChrX:69616312 [GRCh38]
ChrX:68836156 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.910T>G (p.Tyr304Asp) |
single nucleotide variant |
not provided [RCV003147003] |
ChrX:70033514 [GRCh38]
ChrX:69253364 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.706G>A (p.Gly236Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003327319] |
ChrX:70028036 [GRCh38]
ChrX:69247886 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.1112T>A (p.Ile371Asn) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003328131] |
ChrX:70035545 [GRCh38]
ChrX:69255395 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.191del (p.Leu64fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003328118] |
ChrX:69616498 [GRCh38]
ChrX:68836342 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.760C>T (p.Gln254Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003326689] |
ChrX:70030487 [GRCh38]
ChrX:69250337 [GRCh37]
ChrX:Xq13.1 |
pathogenic|uncertain significance |
| GRCh37/hg19 Xq13.1(chrX:69155614-69403994)x3 |
copy number gain |
not provided [RCV003485299] |
ChrX:69155614..69403994 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| GRCh37/hg19 Xq13.1(chrX:68923582-69563323)x3 |
copy number gain |
not provided [RCV003485298] |
ChrX:68923582..69563323 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.847G>T (p.Val283Leu) |
single nucleotide variant |
EDA-related condition [RCV003406245] |
ChrX:70033451 [GRCh38]
ChrX:69253301 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.1008del (p.Ile336fs) |
deletion |
EDA-related condition [RCV003404445] |
ChrX:70035441 [GRCh38]
ChrX:69255291 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.178T>C (p.Cys60Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003388286] |
ChrX:69616486 [GRCh38]
ChrX:68836330 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.22C>A (p.Arg8Ser) |
single nucleotide variant |
EDA-related condition [RCV003392883] |
ChrX:69616330 [GRCh38]
ChrX:68836174 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.820T>C (p.Trp274Arg) |
single nucleotide variant |
EDA-related condition [RCV003410507] |
ChrX:70033424 [GRCh38]
ChrX:69253274 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.414C>T (p.Phe138=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639545] |
ChrX:69957044 [GRCh38]
ChrX:69176894 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.459T>G (p.Arg153=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640302] |
ChrX:69957089 [GRCh38]
ChrX:69176939 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.636T>A (p.Thr212=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003524596] |
ChrX:70027966 [GRCh38]
ChrX:69247816 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.397-12T>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003524737] |
ChrX:69957015 [GRCh38]
ChrX:69176865 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.741+18C>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003524932] |
ChrX:70029556 [GRCh38]
ChrX:69249406 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.406T>C (p.Leu136=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523531] |
ChrX:69957036 [GRCh38]
ChrX:69176886 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.497C>T (p.Ala166Val) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003875874] |
ChrX:69957127 [GRCh38]
ChrX:69176977 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.960T>C (p.Tyr320=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003525038] |
ChrX:70035393 [GRCh38]
ChrX:69255243 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.930C>T (p.Tyr310=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003525102] |
ChrX:70035363 [GRCh38]
ChrX:69255213 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.924+9G>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003825518] |
ChrX:70033537 [GRCh38]
ChrX:69253387 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.471T>C (p.Asn157=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003525338] |
ChrX:69957101 [GRCh38]
ChrX:69176951 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.707-7T>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003524748] |
ChrX:70029497 [GRCh38]
ChrX:69249347 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.397-16_397-11del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003525029] |
ChrX:69957007..69957012 [GRCh38]
ChrX:69176857..69176862 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.502+16T>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523565] |
ChrX:69957148 [GRCh38]
ChrX:69176998 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1143G>T (p.Gly381=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003881360] |
ChrX:70035576 [GRCh38]
ChrX:69255426 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.197C>T (p.Ser66Leu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003882674] |
ChrX:69616505 [GRCh38]
ChrX:68836349 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.720del (p.Ala241fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003524133] |
ChrX:70029515 [GRCh38]
ChrX:69249365 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.198G>A (p.Ser66=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003524422] |
ChrX:69616506 [GRCh38]
ChrX:68836350 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.948C>G (p.Asp316Glu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523386] |
ChrX:70035381 [GRCh38]
ChrX:69255231 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.2T>G (p.Met1Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523382] |
ChrX:69616310 [GRCh38]
ChrX:68836154 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.662G>A (p.Gly221Asp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523385] |
ChrX:70027992 [GRCh38]
ChrX:69247842 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.706+13G>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523449] |
ChrX:70028049 [GRCh38]
ChrX:69247899 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1000C>T (p.Arg334Cys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003522345] |
ChrX:70035433 [GRCh38]
ChrX:69255283 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.543_569del (p.Asn185_Pro193del) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523977] |
ChrX:70027866..70027892 [GRCh38]
ChrX:69247716..69247742 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.793+19T>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003522606] |
ChrX:70030539 [GRCh38]
ChrX:69250389 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.397-1G>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523997] |
ChrX:69957026 [GRCh38]
ChrX:69176876 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.794A>C (p.Asp265Ala) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523347] |
ChrX:70033398 [GRCh38]
ChrX:69253248 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.1066G>A (p.Ala356Thr) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003522745] |
ChrX:70035499 [GRCh38]
ChrX:69255349 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.925-13G>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003522846] |
ChrX:70035345 [GRCh38]
ChrX:69255195 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.243_251del (p.Pro84_Thr86del) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003524118] |
ChrX:69616550..69616558 [GRCh38]
ChrX:68836394..68836402 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.64_71dup (p.Cys25fs) |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523383] |
ChrX:69616367..69616368 [GRCh38]
ChrX:68836211..68836212 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.526+20A>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523785] |
ChrX:70023261 [GRCh38]
ChrX:69243111 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.707-18T>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003522601] |
ChrX:70029486 [GRCh38]
ChrX:69249336 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.986T>G (p.Phe329Cys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003815863] |
ChrX:70035419 [GRCh38]
ChrX:69255269 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.706+14T>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003522866] |
ChrX:70028050 [GRCh38]
ChrX:69247900 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.660_668del (p.217PGP[2]) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003522191] |
ChrX:70027982..70027990 [GRCh38]
ChrX:69247832..69247840 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.397-19G>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523556] |
ChrX:69957008 [GRCh38]
ChrX:69176858 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.885A>G (p.Val295=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003522273] |
ChrX:70033489 [GRCh38]
ChrX:69253339 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.243G>C (p.Ser81=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523566] |
ChrX:69616551 [GRCh38]
ChrX:68836395 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.225G>A (p.Glu75=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003522902] |
ChrX:69616533 [GRCh38]
ChrX:68836377 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.28G>T (p.Glu10Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003524136] |
ChrX:69616336 [GRCh38]
ChrX:68836180 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.924+4A>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003522618] |
ChrX:70033532 [GRCh38]
ChrX:69253382 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.170C>G (p.Thr57Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003523384] |
ChrX:69616478 [GRCh38]
ChrX:68836322 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.1029C>G (p.Tyr343Ter) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003522713] |
ChrX:70035462 [GRCh38]
ChrX:69255312 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.742-20_742-17del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003522193] |
ChrX:70030447..70030450 [GRCh38]
ChrX:69250297..69250300 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.924+15A>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003638399] |
ChrX:70033543 [GRCh38]
ChrX:69253393 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.375T>C (p.Ser125=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639013] |
ChrX:69616683 [GRCh38]
ChrX:68836527 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1029del (p.Asn342_Tyr343insTer) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640129] |
ChrX:70035462 [GRCh38]
ChrX:69255312 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.810G>A (p.Val270=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003841896] |
ChrX:70033414 [GRCh38]
ChrX:69253264 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.462T>C (p.Val154=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003824039] |
ChrX:69957092 [GRCh38]
ChrX:69176942 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.741+17T>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639014] |
ChrX:70029555 [GRCh38]
ChrX:69249405 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.288C>G (p.Leu96=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639550] |
ChrX:69616596 [GRCh38]
ChrX:68836440 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.925-11C>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003638471] |
ChrX:70035347 [GRCh38]
ChrX:69255197 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.672T>C (p.Gly224=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639589] |
ChrX:70028002 [GRCh38]
ChrX:69247852 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.927A>G (p.Val309=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639633] |
ChrX:70035360 [GRCh38]
ChrX:69255210 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.794-14_794-12del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003638611] |
ChrX:70033382..70033384 [GRCh38]
ChrX:69253232..69253234 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848) |
copy number gain |
not specified [RCV003986211] |
ChrX:61877278..79122848 [GRCh37]
ChrX:Xq11.1-21.1 |
pathogenic |
| NM_001399.5(EDA):c.273C>T (p.Ser91=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003872518] |
ChrX:69616581 [GRCh38]
ChrX:68836425 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.925-17T>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639064] |
ChrX:70035341 [GRCh38]
ChrX:69255191 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) |
copy number gain |
not specified [RCV003986197] |
ChrX:68040342..100863081 [GRCh37]
ChrX:Xq13.1-22.1 |
pathogenic |
| NM_001399.5(EDA):c.149C>G (p.Ser50Trp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639638] |
ChrX:69616457 [GRCh38]
ChrX:68836301 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.958T>C (p.Tyr320His) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639749] |
ChrX:70035391 [GRCh38]
ChrX:69255241 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.707-15T>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003871632] |
ChrX:70029489 [GRCh38]
ChrX:69249339 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.803G>T (p.Gly268Val) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639777] |
ChrX:70033407 [GRCh38]
ChrX:69253257 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.572del (p.Pro191fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639852] |
ChrX:70027898 [GRCh38]
ChrX:69247748 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.527-18del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639935] |
ChrX:70027839 [GRCh38]
ChrX:69247689 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.565G>A (p.Gly189Arg) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640039] |
ChrX:70027895 [GRCh38]
ChrX:69247745 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.597C>T (p.Pro199=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640241] |
ChrX:70027927 [GRCh38]
ChrX:69247777 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| GRCh37/hg19 Xq13.1(chrX:68473765-69124114) |
copy number gain |
not specified [RCV003986295] |
ChrX:68473765..69124114 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.706+8C>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640325] |
ChrX:70028044 [GRCh38]
ChrX:69247894 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.883del (p.Val295fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640355] |
ChrX:70033486 [GRCh38]
ChrX:69253336 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.706+14T>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003638596] |
ChrX:70028050 [GRCh38]
ChrX:69247900 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.707-17C>A |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003840723] |
ChrX:70029487 [GRCh38]
ChrX:69249337 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.327G>C (p.Pro109=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003864531] |
ChrX:69616635 [GRCh38]
ChrX:68836479 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.205C>T (p.Arg69Trp) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003638361] |
ChrX:69616513 [GRCh38]
ChrX:68836357 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.794-7T>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003638518] |
ChrX:70033391 [GRCh38]
ChrX:69253241 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1044C>T (p.Thr348=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003638455] |
ChrX:70035477 [GRCh38]
ChrX:69255327 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.993G>A (p.Gln331=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640331] |
ChrX:70035426 [GRCh38]
ChrX:69255276 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.741+18C>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003638580] |
ChrX:70029556 [GRCh38]
ChrX:69249406 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.897C>T (p.Gly299=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640176] |
ChrX:70033501 [GRCh38]
ChrX:69253351 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.924+14T>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003841679] |
ChrX:70033542 [GRCh38]
ChrX:69253392 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.527-9A>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640259] |
ChrX:70027848 [GRCh38]
ChrX:69247698 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.625C>T (p.Pro209Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640272] |
ChrX:70027955 [GRCh38]
ChrX:69247805 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.503-14T>C |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639152] |
ChrX:70023204 [GRCh38]
ChrX:69243054 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.527-19A>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639306] |
ChrX:70027838 [GRCh38]
ChrX:69247688 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.612G>A (p.Gly204=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639366] |
ChrX:70027942 [GRCh38]
ChrX:69247792 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.895G>T (p.Gly299Cys) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639680] |
ChrX:70033499 [GRCh38]
ChrX:69253349 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.503-13A>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639677] |
ChrX:70023205 [GRCh38]
ChrX:69243055 [GRCh37]
ChrX:Xq13.1 |
benign |
| NM_001399.5(EDA):c.644G>A (p.Gly215Glu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639687] |
ChrX:70027974 [GRCh38]
ChrX:69247824 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.397-2A>T |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639871] |
ChrX:69957025 [GRCh38]
ChrX:69176875 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.1111A>T (p.Ile371Phe) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639895] |
ChrX:70035544 [GRCh38]
ChrX:69255394 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.502+10_502+14del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003845653] |
ChrX:69957142..69957146 [GRCh38]
ChrX:69176992..69176996 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.793+20C>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003638166] |
ChrX:70030540 [GRCh38]
ChrX:69250390 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1010A>T (p.Glu337Val) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640104] |
ChrX:70035443 [GRCh38]
ChrX:69255293 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1012A>G (p.Thr338Ala) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639696] |
ChrX:70035445 [GRCh38]
ChrX:69255295 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.532A>G (p.Lys178Glu) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003639965] |
ChrX:70027862 [GRCh38]
ChrX:69247712 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.321G>C (p.Gly107=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640121] |
ChrX:69616629 [GRCh38]
ChrX:68836473 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.526+17A>G |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003638369] |
ChrX:70023258 [GRCh38]
ChrX:69243108 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.831C>T (p.Ile277=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003638242] |
ChrX:70033435 [GRCh38]
ChrX:69253285 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1144G>T (p.Ala382Ser) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640043] |
ChrX:70035577 [GRCh38]
ChrX:69255427 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.166C>T (p.Leu56=) |
single nucleotide variant |
Hypohidrotic X-linked ectodermal dysplasia [RCV003640125] |
ChrX:69616474 [GRCh38]
ChrX:68836318 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.396+53494_396+53498dup |
duplication |
EDA-related condition [RCV003976574] |
ChrX:69670183..69670184 [GRCh38]
ChrX:68890027..68890028 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.1166C>T (p.Pro389Leu) |
single nucleotide variant |
not specified [RCV003995025] |
ChrX:70035599 [GRCh38]
ChrX:69255449 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.396+53493_396+53498dup |
duplication |
EDA-related condition [RCV003972161] |
ChrX:69670183..69670184 [GRCh38]
ChrX:68890027..68890028 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NM_001399.5(EDA):c.396+53496_396+53498dup |
duplication |
EDA-related condition [RCV003964475] |
ChrX:69670183..69670184 [GRCh38]
ChrX:68890027..68890028 [GRCh37]
ChrX:Xq13.1 |
likely benign |
| NC_000023.11:g.(?_66445907)_(78172208_?)dup |
duplication |
Xq13q21 duplication [RCV003885331] |
ChrX:66445907..78172208 [GRCh38]
ChrX:Xq12-21.1 |
pathogenic |
| NM_001399.5(EDA):c.254dup (p.Thr86fs) |
duplication |
Hypohidrotic X-linked ectodermal dysplasia [RCV003992641] |
ChrX:69616560..69616561 [GRCh38]
ChrX:68836404..68836405 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 |
copy number gain |
not provided [RCV003885530] |
ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28 |
pathogenic |
| NC_000023.11:g.(?_69616225)_(69616454_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV004018315] |
ChrX:69616225..69616454 [GRCh38]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.382del (p.Gln128fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV004018326] |
ChrX:69616688 [GRCh38]
ChrX:68836532 [GRCh37]
ChrX:Xq13.1 |
pathogenic |
| NC_000023.11:g.(?_69956687)_(69957126_?)del |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV004018322] |
ChrX:69956687..69957126 [GRCh38]
ChrX:Xq13.1 |
pathogenic |
| NM_001399.5(EDA):c.502_502+19del |
deletion |
Inborn genetic diseases [RCV004384474] |
ChrX:69957129..69957148 [GRCh38]
ChrX:69176979..69176998 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
| NM_001399.5(EDA):c.398T>C (p.Met133Thr) |
single nucleotide variant |
not specified [RCV003155688] |
ChrX:69957028 [GRCh38]
ChrX:69176878 [GRCh37]
ChrX:Xq13.1 |
uncertain significance |
| NM_001399.5(EDA):c.434_438del (p.Pro145fs) |
deletion |
Hypohidrotic X-linked ectodermal dysplasia [RCV003337894] |
ChrX:69957063..69957067 [GRCh38]
ChrX:69176913..69176917 [GRCh37]
ChrX:Xq13.1 |
likely pathogenic |
