NM_022336.4(EDAR):c.1209G>A (p.Thr403=) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000556650] |
Chr2:108897045 [GRCh38] Chr2:109513501 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.43G>A (p.Val15Ile) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000534816]|Non-syndromic oligodontia [RCV001261887] |
Chr2:108930972 [GRCh38] Chr2:109547428 [GRCh37] Chr2:2q13 |
pathogenic|benign |
NM_022336.4(EDAR):c.52-25_52-8del |
deletion |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006205] |
Chr2:108930250..108930267 [GRCh38] Chr2:109546706..109546723 [GRCh37] Chr2:2q13 |
pathogenic |
EDAR, DEL |
deletion |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006208] |
Chr2:2q11-q13 |
pathogenic |
NM_022336.4(EDAR):c.51+1G>A |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006212] |
Chr2:108930963 [GRCh38] Chr2:109547419 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.715_718AAGA[1] (p.Lys240fs) |
microsatellite |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006217] |
Chr2:108910784..108910787 [GRCh38] Chr2:109527240..109527243 [GRCh37] Chr2:2q13 |
pathogenic|likely pathogenic |
NM_022336.4(EDAR):c.803+1G>A |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006218] |
Chr2:108910459 [GRCh38] Chr2:109526915 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.1193_1194del (p.Leu397_Phe398insTer) |
deletion |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639387] |
Chr2:108897060..108897061 [GRCh38] Chr2:109513516..109513517 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.903C>A (p.Cys301Ter) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000527756]|not provided [RCV000521198] |
Chr2:108907920 [GRCh38] Chr2:109524376 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.1017C>A (p.Val339=) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000538950] |
Chr2:108906315 [GRCh38] Chr2:109522771 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.1024+1G>A |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000553575] |
Chr2:108906307 [GRCh38] Chr2:109522763 [GRCh37] Chr2:2q13 |
likely pathogenic |
NM_022336.4(EDAR):c.813T>C (p.Asp271=) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000560823]|Hypohidrotic ectodermal dysplasia [RCV001130388] |
Chr2:108908010 [GRCh38] Chr2:109524466 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.266G>A (p.Arg89His) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006206]|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001038628]|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001253315]|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant [RCV000032598]|Progressive sclerosing poliodystrophy [RCV000681480] |
Chr2:108929288 [GRCh38] Chr2:109545744 [GRCh37] Chr2:2q13 |
pathogenic|likely pathogenic |
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006209]|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000798172] |
Chr2:108929295 [GRCh38] Chr2:109545751 [GRCh37] Chr2:2q13 |
pathogenic|uncertain significance |
NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000532015]|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant [RCV000006210]|Non-syndromic oligodontia [RCV001261883]|not provided [RCV000255664] |
Chr2:108897182 [GRCh38] Chr2:109513638 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001050412]|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000755721]|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant [RCV000006211]|not provided [RCV000255701] |
Chr2:108896995 [GRCh38] Chr2:109513451 [GRCh37] Chr2:2q13 |
pathogenic|likely pathogenic |
NM_022336.4(EDAR):c.1124G>A (p.Arg375His) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006213] |
Chr2:108897130 [GRCh38] Chr2:109513586 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.329A>C (p.Asp110Ala) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000006214] |
Chr2:108929225 [GRCh38] Chr2:109545681 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.1060G>T (p.Glu354Ter) |
single nucleotide variant |
Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant [RCV000006215] |
Chr2:108897194 [GRCh38] Chr2:109513650 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) |
single nucleotide variant |
Hair morphology 1, hair thickness [RCV000006216]|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000382959]|Hypohidrotic ectodermal dysplasia [RCV001133945]|Non-syndromic oligodontia [RCV001261884]|not specified [RCV000174399] |
Chr2:108897145 [GRCh38] Chr2:109513601 [GRCh37] Chr2:2q13 |
pathogenic|association|benign |
GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1 |
copy number loss |
See cases [RCV000051261] |
Chr2:108579001..109736559 [GRCh38] Chr2:109195457..110494136 [GRCh37] Chr2:108561889..109851425 [NCBI36] Chr2:2q12.3-13 |
pathogenic |
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 |
copy number gain |
See cases [RCV000053141] |
Chr2:106696282..110223328 [GRCh38] Chr2:107312738..110980905 [GRCh37] Chr2:106679170..110338194 [NCBI36] Chr2:2q12.2-13 |
uncertain significance |
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053142]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053142]|See cases [RCV000053142] |
Chr2:108593876..109700179 [GRCh38] Chr2:109210332..110457756 [GRCh37] Chr2:2q12.3-13 |
uncertain significance |
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 |
copy number gain |
See cases [RCV000052947] |
Chr2:97672522..110211318 [GRCh38] Chr2:98288985..110968895 [GRCh37] Chr2:97655417..110326184 [NCBI36] Chr2:2q11.2-13 |
pathogenic |
NM_022336.3(EDAR):c.655+42C>T |
single nucleotide variant |
Malignant melanoma [RCV000060294] |
Chr2:108910905 [GRCh38] Chr2:109527361 [GRCh37] Chr2:108893793 [NCBI36] Chr2:2q13 |
not provided |
NM_022336.3(EDAR):c.293G>A (p.Arg98Gln) |
single nucleotide variant |
Malignant melanoma [RCV000060295] |
Chr2:108929261 [GRCh38] Chr2:109545717 [GRCh37] Chr2:108912149 [NCBI36] Chr2:2q13 |
not provided |
NM_022336.4(EDAR):c.463G>A (p.Ala155Thr) |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001131113]|not provided [RCV000255100] |
Chr2:108912744 [GRCh38] Chr2:109529200 [GRCh37] Chr2:2q13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser) |
single nucleotide variant |
not provided [RCV000255133] |
Chr2:108897110 [GRCh38] Chr2:109513566 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.*42G>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000367811]|Hypohidrotic ectodermal dysplasia [RCV001130990]|not provided [RCV000143979] |
Chr2:108896865 [GRCh38] Chr2:109513321 [GRCh37] Chr2:2q13 |
benign|not provided |
NM_022336.4(EDAR):c.1024+16del |
deletion |
not provided [RCV000143980]|not specified [RCV000242704] |
Chr2:108906292 [GRCh38] Chr2:109522748 [GRCh37] Chr2:2q13 |
benign|uncertain significance |
NM_022336.4(EDAR):c.1024+44C>T |
single nucleotide variant |
not provided [RCV000143981] |
Chr2:108906264 [GRCh38] Chr2:109522720 [GRCh37] Chr2:2q13 |
benign|uncertain significance |
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000269800]|Hypohidrotic ectodermal dysplasia [RCV001133946]|none provided [RCV001282797]|not provided [RCV000143982]|not specified [RCV000150610] |
Chr2:108897198 [GRCh38] Chr2:109513654 [GRCh37] Chr2:2q13 |
benign|uncertain significance |
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001134063]|not provided [RCV000143983] |
Chr2:108929347 [GRCh38] Chr2:109545803 [GRCh37] Chr2:2q13 |
benign|likely benign|not provided |
NM_022336.4(EDAR):c.655+30T>C |
single nucleotide variant |
not provided [RCV000143984] |
Chr2:108910917 [GRCh38] Chr2:109527373 [GRCh37] Chr2:2q13 |
benign|uncertain significance |
NM_022336.4(EDAR):c.731-62T>C |
single nucleotide variant |
not provided [RCV000143985] |
Chr2:108910594 [GRCh38] Chr2:109527050 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.731-99C>T |
single nucleotide variant |
not provided [RCV000143986] |
Chr2:108910631 [GRCh38] Chr2:109527087 [GRCh37] Chr2:2q13 |
benign|uncertain significance |
NM_022336.4(EDAR):c.750C>T (p.Ser250=) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000285005]|Hypohidrotic ectodermal dysplasia [RCV001130391]|not provided [RCV000143987]|not specified [RCV000150611] |
Chr2:108910513 [GRCh38] Chr2:109526969 [GRCh37] Chr2:2q13 |
benign|uncertain significance |
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3 |
copy number gain |
See cases [RCV000053142] |
Chr2:108593876..109700179 [GRCh38] Chr2:109210332..110457756 [GRCh37] Chr2:108576764..109815045 [NCBI36] Chr2:2q12.3-13 |
uncertain significance |
GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1 |
copy number loss |
See cases [RCV000134167] |
Chr2:107962353..109700179 [GRCh38] Chr2:108578809..110457756 [GRCh37] Chr2:107945241..109815045 [NCBI36] Chr2:2q12.3-13 |
pathogenic|uncertain significance |
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x1 |
copy number loss |
See cases [RCV000135738] |
Chr2:108593876..109700179 [GRCh38] Chr2:109210332..110457756 [GRCh37] Chr2:108576764..109815045 [NCBI36] Chr2:2q12.3-13 |
uncertain significance |
GRCh38/hg38 2q12.3-13(chr2:108681906-109700179)x3 |
copy number gain |
See cases [RCV000136575] |
Chr2:108681906..109700179 [GRCh38] Chr2:109298362..110457756 [GRCh37] Chr2:108664794..109815045 [NCBI36] Chr2:2q12.3-13 |
likely benign|uncertain significance |
GRCh38/hg38 2q13(chr2:108719125-110611314)x3 |
copy number gain |
See cases [RCV000137361] |
Chr2:108719125..110611314 [GRCh38] Chr2:109335581..111368891 [GRCh37] Chr2:108702013..111085360 [NCBI36] Chr2:2q13 |
uncertain significance |
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 |
copy number gain |
See cases [RCV000138645] |
Chr2:101710825..110791418 [GRCh38] Chr2:102327287..111548995 [GRCh37] Chr2:101693719..111265466 [NCBI36] Chr2:2q11.2-13 |
pathogenic |
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 |
copy number gain |
See cases [RCV000139569] |
Chr2:106516472..110576905 [GRCh38] Chr2:107132928..111334482 [GRCh37] Chr2:106499360..110857227 [NCBI36] Chr2:2q12.2-13 |
uncertain significance |
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 |
copy number gain |
See cases [RCV000140834] |
Chr2:106428663..112379067 [GRCh38] Chr2:107045119..113136644 [GRCh37] Chr2:106411551..112853115 [NCBI36] Chr2:2q12.2-14.1 |
uncertain significance |
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 |
copy number gain |
See cases [RCV000141075] |
Chr2:94678532..110602409 [GRCh38] Chr2:95344257..111359986 [GRCh37] Chr2:94707984..111076455 [NCBI36] Chr2:2q11.1-13 |
pathogenic |
GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1 |
copy number loss |
See cases [RCV000141950] |
Chr2:108660713..109735214 [GRCh38] Chr2:109277169..110492791 [GRCh37] Chr2:108643601..109850080 [NCBI36] Chr2:2q12.3-13 |
uncertain significance |
GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1 |
copy number loss |
See cases [RCV000142089] |
Chr2:108526866..109746741 [GRCh38] Chr2:109143322..110504318 [GRCh37] Chr2:108509754..109861607 [NCBI36] Chr2:2q12.3-13 |
uncertain significance |
NM_022336.4(EDAR):c.357-4G>A |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000285838]|Hypohidrotic ectodermal dysplasia [RCV001131114]|not specified [RCV000156147] |
Chr2:108923457 [GRCh38] Chr2:109539913 [GRCh37] Chr2:2q13 |
benign|likely benign |
NC_000002.12:g.(?_108896907)_(108906334_?)del |
deletion |
Autosomal dominant hypohidrotic ectodermal dysplasia [RCV000150609] |
Chr2:108896907..108906334 [GRCh38] Chr2:109513363..109522790 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln) |
single nucleotide variant |
not provided [RCV000254918] |
Chr2:108897181 [GRCh38] Chr2:109513637 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.*328G>A |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000261676]|Hypohidrotic ectodermal dysplasia [RCV001130985] |
Chr2:108896579 [GRCh38] Chr2:109513035 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_022336.4(EDAR):c.186C>T (p.Tyr62=) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000390480]|Hypohidrotic ectodermal dysplasia [RCV001134064] |
Chr2:108929368 [GRCh38] Chr2:109545824 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1888_*1891GAGT[1] |
microsatellite |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000259723] |
Chr2:108895012..108895015 [GRCh38] Chr2:109511468..109511471 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.146C>T (p.Pro49Leu) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000821558]|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000301138]|Hypohidrotic ectodermal dysplasia [RCV001134066] |
Chr2:108930148 [GRCh38] Chr2:109546604 [GRCh37] Chr2:2q13 |
likely benign|uncertain significance |
NM_022336.4(EDAR):c.607G>A (p.Val203Ile) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000380246]|Hypohidrotic ectodermal dysplasia [RCV001131110]|not provided [RCV000523863] |
Chr2:108910995 [GRCh38] Chr2:109527451 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter) |
single nucleotide variant |
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000258329] |
Chr2:108896970 [GRCh38] Chr2:109513426 [GRCh37] Chr2:2q13 |
likely pathogenic |
NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000531671] |
Chr2:108897091 [GRCh38] Chr2:109513547 [GRCh37] Chr2:2q13 |
likely pathogenic |
NM_022336.3(EDAR):c.(?_509)_(803_?)+34del |
deletion |
Autosomal dominant hypohidrotic ectodermal dysplasia [RCV000217502] |
Chr2:108910426..108912698 [GRCh38] Chr2:109526882..109529154 [GRCh37] Chr2:2q13 |
pathogenic |
GRCh37/hg19 2q12.3-13(chr2:109300532-110862536)x3 |
copy number gain |
not provided [RCV000762743] |
Chr2:109300532..110862536 [GRCh37] Chr2:2q12.3-13 |
uncertain significance |
NM_022336.4(EDAR):c.1119G>A (p.Thr373=) |
single nucleotide variant |
not provided [RCV000543206] |
Chr2:108897135 [GRCh38] Chr2:109513591 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000558030] |
Chr2:108897122 [GRCh38] Chr2:109513578 [GRCh37] Chr2:2q13 |
likely pathogenic |
NM_022336.4(EDAR):c.844C>T (p.Arg282Trp) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000329517]|Hypohidrotic ectodermal dysplasia [RCV001135452] |
Chr2:108907979 [GRCh38] Chr2:109524435 [GRCh37] Chr2:2q13 |
likely benign|uncertain significance |
NM_022336.4(EDAR):c.1183A>G (p.Met395Val) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000333021]|Hypohidrotic ectodermal dysplasia [RCV001133941] |
Chr2:108897071 [GRCh38] Chr2:109513527 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.68C>T (p.Ser23Leu) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639386]|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000337432]|Hypohidrotic ectodermal dysplasia [RCV001135565] |
Chr2:108930226 [GRCh38] Chr2:109546682 [GRCh37] Chr2:2q13 |
likely benign|uncertain significance |
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 |
copy number loss |
See cases [RCV000240053] |
Chr2:106423310..115054828 [GRCh37] Chr2:2q12.2-14.1 |
pathogenic |
NM_022336.4(EDAR):c.674C>T (p.Pro225Leu) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001218031]|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000339609]|Hypohidrotic ectodermal dysplasia [RCV001131109] |
Chr2:108910832 [GRCh38] Chr2:109527288 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*2426C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000268013]|Hypohidrotic ectodermal dysplasia [RCV001135177] |
Chr2:108894481 [GRCh38] Chr2:109510937 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.1175C>T (p.Thr392Ile) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000546551] |
Chr2:108897079 [GRCh38] Chr2:109513535 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.870C>T (p.Pro290=) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000549368]|Hypohidrotic ectodermal dysplasia [RCV001135449]|not specified [RCV000251730] |
Chr2:108907953 [GRCh38] Chr2:109524409 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.212G>A (p.Cys71Tyr) |
single nucleotide variant |
not provided [RCV000256013] |
Chr2:108929342 [GRCh38] Chr2:109545798 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.-238C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000271005]|Hypohidrotic ectodermal dysplasia [RCV001130501] |
Chr2:108989179 [GRCh38] Chr2:109605635 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001068701]|not provided [RCV000256050] |
Chr2:108897133 [GRCh38] Chr2:109513589 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.-189T>C |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000269998]|Hypohidrotic ectodermal dysplasia [RCV001135571] |
Chr2:108989130 [GRCh38] Chr2:109605586 [GRCh37] Chr2:2q13 |
benign|uncertain significance |
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000864277]|Hypohidrotic ectodermal dysplasia [RCV001133944]|Non-syndromic oligodontia [RCV001261888]|not specified [RCV000243038] |
Chr2:108897116 [GRCh38] Chr2:109513572 [GRCh37] Chr2:2q13 |
pathogenic|benign |
NM_022336.4(EDAR):c.319A>G (p.Met107Val) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639391]|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000336113]|Hypohidrotic ectodermal dysplasia [RCV001134059]|Non-syndromic oligodontia [RCV001261885]|not specified [RCV000247995] |
Chr2:108929235 [GRCh38] Chr2:109545691 [GRCh37] Chr2:2q13 |
pathogenic|benign|likely benign |
GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1 |
copy number loss |
See cases [RCV000240490] |
Chr2:109556627..117570152 [GRCh37] Chr2:2q12.3-14.1 |
pathogenic |
NM_022336.4(EDAR):c.822C>A (p.Ser274=) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000534738]|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000384066]|Hypohidrotic ectodermal dysplasia [RCV001130387]|not specified [RCV000248380] |
Chr2:108908001 [GRCh38] Chr2:109524457 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_022336.4(EDAR):c.*16G>C |
single nucleotide variant |
not specified [RCV000250729] |
Chr2:108896891 [GRCh38] Chr2:109513347 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.*1598T>C |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000374162]|Hypohidrotic ectodermal dysplasia [RCV001130847] |
Chr2:108895309 [GRCh38] Chr2:109511765 [GRCh37] Chr2:2q13 |
benign |
NM_022336.3(EDAR):c.-370C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000376110] |
Chr2:108989311 [GRCh38] Chr2:109605767 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.*935C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000398662]|Hypohidrotic ectodermal dysplasia [RCV001135314] |
Chr2:108895972 [GRCh38] Chr2:109512428 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_022336.4(EDAR):c.*1900C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000354350]|Hypohidrotic ectodermal dysplasia [RCV001135183] |
Chr2:108895007 [GRCh38] Chr2:109511463 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_022336.4(EDAR):c.*1129A>G |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000400545]|Hypohidrotic ectodermal dysplasia [RCV001133824] |
Chr2:108895778 [GRCh38] Chr2:109512234 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.*2426_*2430del |
deletion |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000357958] |
Chr2:108894477..108894481 [GRCh38] Chr2:109510933..109510937 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*757T>C |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000359988]|Hypohidrotic ectodermal dysplasia [RCV001135318] |
Chr2:108896150 [GRCh38] Chr2:109512606 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_022336.4(EDAR):c.*1107C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000290599]|Hypohidrotic ectodermal dysplasia [RCV001135311] |
Chr2:108895800 [GRCh38] Chr2:109512256 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_022336.4(EDAR):c.*895C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000305290]|Hypohidrotic ectodermal dysplasia [RCV001135315] |
Chr2:108896012 [GRCh38] Chr2:109512468 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_022336.4(EDAR):c.*999C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000340908]|Hypohidrotic ectodermal dysplasia [RCV001135312] |
Chr2:108895908 [GRCh38] Chr2:109512364 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_022336.4(EDAR):c.*625C>A |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000408038]|Hypohidrotic ectodermal dysplasia [RCV001130273] |
Chr2:108896282 [GRCh38] Chr2:109512738 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.3(EDAR):c.-414A>G |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000323046] |
Chr2:108989355 [GRCh38] Chr2:109605811 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1248G>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000388221]|Hypohidrotic ectodermal dysplasia [RCV001133819] |
Chr2:108895659 [GRCh38] Chr2:109512115 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_022336.4(EDAR):c.*188G>C |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000330847]|Hypohidrotic ectodermal dysplasia [RCV001130989] |
Chr2:108896719 [GRCh38] Chr2:109513175 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*2151_*2154dup |
duplication |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000323109] |
Chr2:108894752..108894753 [GRCh38] Chr2:109511208..109511209 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.960C>T (p.Ala320=) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000945336]|Hypohidrotic ectodermal dysplasia [RCV001135448]|not specified [RCV000291449] |
Chr2:108907863 [GRCh38] Chr2:109524319 [GRCh37] Chr2:2q13 |
benign|likely benign |
NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000277963]|Hypohidrotic ectodermal dysplasia [RCV001133940] |
Chr2:108896966 [GRCh38] Chr2:109513422 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.224C>T (p.Pro75Leu) |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001134061]|not provided [RCV000263826] |
Chr2:108929330 [GRCh38] Chr2:109545786 [GRCh37] Chr2:2q13 |
likely benign|uncertain significance |
NM_022336.3(EDAR):c.-394T>C |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000267918] |
Chr2:108989335 [GRCh38] Chr2:109605791 [GRCh37] Chr2:2q13 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_022336.4(EDAR):c.-30A>C |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000314672]|Hypohidrotic ectodermal dysplasia [RCV001135568] |
Chr2:108988971 [GRCh38] Chr2:109605427 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1181C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000344375]|Hypohidrotic ectodermal dysplasia [RCV001133822] |
Chr2:108895726 [GRCh38] Chr2:109512182 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.-4G>A |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000400452]|Hypohidrotic ectodermal dysplasia [RCV001135566] |
Chr2:108931018 [GRCh38] Chr2:109547474 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1535C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000292826]|Hypohidrotic ectodermal dysplasia [RCV001130849] |
Chr2:108895372 [GRCh38] Chr2:109511828 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.-235G>A |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000365659]|Hypohidrotic ectodermal dysplasia [RCV001130500] |
Chr2:108989176 [GRCh38] Chr2:109605632 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.-226T>C |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000306432]|Hypohidrotic ectodermal dysplasia [RCV001135572] |
Chr2:108989167 [GRCh38] Chr2:109605623 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1761G>A |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000319542]|Hypohidrotic ectodermal dysplasia [RCV001130142] |
Chr2:108895146 [GRCh38] Chr2:109511602 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1319C>G |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000333860]|Hypohidrotic ectodermal dysplasia [RCV001130853] |
Chr2:108895588 [GRCh38] Chr2:109512044 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.-129G>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000369335]|Hypohidrotic ectodermal dysplasia [RCV001135570] |
Chr2:108989070 [GRCh38] Chr2:109605526 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*602T>A |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000296925]|Hypohidrotic ectodermal dysplasia [RCV001130274] |
Chr2:108896305 [GRCh38] Chr2:109512761 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.3(EDAR):c.-348G>A |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000321533] |
Chr2:108989289 [GRCh38] Chr2:109605745 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.3(EDAR):c.*2450G>A |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000376277] |
Chr2:108894457 [GRCh38] Chr2:109510913 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.*499C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000356492]|Hypohidrotic ectodermal dysplasia [RCV001130276] |
Chr2:108896408 [GRCh38] Chr2:109512864 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1226A>C |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000289274]|Hypohidrotic ectodermal dysplasia [RCV001133820] |
Chr2:108895681 [GRCh38] Chr2:109512137 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.723G>A (p.Glu241=) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000549710]|Hypohidrotic ectodermal dysplasia [RCV001131107] |
Chr2:108910783 [GRCh38] Chr2:109527239 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.166C>T (p.Pro56Ser) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639385] |
Chr2:108930128 [GRCh38] Chr2:109546584 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.57T>A (p.Ser19=) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639388] |
Chr2:108930237 [GRCh38] Chr2:109546693 [GRCh37] Chr2:2q13 |
benign |
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 |
copy number gain |
See cases [RCV000446842] |
Chr2:95327499..111370025 [GRCh37] Chr2:2q11.1-13 |
pathogenic |
GRCh37/hg19 2q12.3-13(chr2:108526025-110876776)x3 |
copy number gain |
See cases [RCV000446992] |
Chr2:108526025..110876776 [GRCh37] Chr2:2q12.3-13 |
uncertain significance |
NM_022336.4(EDAR):c.1284T>G (p.Cys428Trp) |
single nucleotide variant |
not provided [RCV000481594] |
Chr2:108896970 [GRCh38] Chr2:109513426 [GRCh37] Chr2:2q13 |
likely pathogenic |
NM_022336.4(EDAR):c.284del (p.Gly95fs) |
deletion |
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000477893] |
Chr2:108929270 [GRCh38] Chr2:109545726 [GRCh37] Chr2:2q13 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_022336.4(EDAR):c.1229A>G (p.Glu410Gly) |
single nucleotide variant |
not provided [RCV000484954] |
Chr2:108897025 [GRCh38] Chr2:109513481 [GRCh37] Chr2:2q13 |
likely pathogenic |
NM_022336.4(EDAR):c.883_889delinsTGATGAGGAGCCCG (p.Gln295_Ser297delinsTer) |
indel |
not provided [RCV000485277] |
Chr2:108907934..108907940 [GRCh38] Chr2:109524390..109524396 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.442+1G>A |
single nucleotide variant |
not provided [RCV000497932] |
Chr2:108923367 [GRCh38] Chr2:109539823 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.481G>A (p.Gly161Ser) |
single nucleotide variant |
not specified [RCV000506314] |
Chr2:108912726 [GRCh38] Chr2:109529182 [GRCh37] Chr2:2q13 |
uncertain significance |
GRCh37/hg19 2q12.3-13(chr2:108534030-110492791)x3 |
copy number gain |
See cases [RCV000510943] |
Chr2:108534030..110492791 [GRCh37] Chr2:2q12.3-13 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 |
copy number loss |
PARP Inhibitor response [RCV000626436] |
Chr2:104172062..168223828 [GRCh37] Chr2:2q12.1-24.3 |
drug response |
GRCh37/hg19 2q12.3-13(chr2:109301074-110482930) |
copy number loss |
not provided [RCV000767554] |
Chr2:109301074..110482930 [GRCh37] Chr2:2q12.3-13 |
likely pathogenic |
NM_022336.4(EDAR):c.278G>C (p.Cys93Ser) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000626106] |
Chr2:108929276 [GRCh38] Chr2:109545732 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.529+1G>A |
single nucleotide variant |
Ectodermal dysplasia [RCV000613299] |
Chr2:108912677 [GRCh38] Chr2:109529133 [GRCh37] Chr2:2q13 |
pathogenic |
Single allele |
duplication |
Neuronopathy, distal hereditary motor, type viia [RCV000534213] |
Chr2:107988136..108963283 [GRCh38] Chr2:2q12.3-13 |
uncertain significance |
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639389]|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001253683]|not provided [RCV001090262] |
Chr2:108929262 [GRCh38] Chr2:109545718 [GRCh37] Chr2:2q13 |
pathogenic|likely pathogenic |
NM_022336.4(EDAR):c.187G>A (p.Gly63Ser) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000639390] |
Chr2:108929367 [GRCh38] Chr2:109545823 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.985A>T (p.Ile329Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV000623679] |
Chr2:108906347 [GRCh38] Chr2:109522803 [GRCh37] Chr2:2q13 |
uncertain significance |
Single allele |
duplication |
not provided [RCV000678012] |
Chr2:107096423..112235727 [GRCh37] Chr2:2q12.2-13 |
likely pathogenic |
GRCh37/hg19 2q12.3-13(chr2:109295035-110504318)x1 |
copy number loss |
not provided [RCV000682122] |
Chr2:109295035..110504318 [GRCh37] Chr2:2q12.3-13 |
likely pathogenic |
GRCh37/hg19 2q12.3-13(chr2:108501887-110504318)x3 |
copy number gain |
not provided [RCV000682142] |
Chr2:108501887..110504318 [GRCh37] Chr2:2q12.3-13 |
uncertain significance |
GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1 |
copy number loss |
not provided [RCV000682152] |
Chr2:107020782..111365996 [GRCh37] Chr2:2q12.2-13 |
likely pathogenic |
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 |
copy number gain |
not provided [RCV000682168] |
Chr2:96353030..114045463 [GRCh37] Chr2:2q11.1-13 |
pathogenic |
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys) |
single nucleotide variant |
Progressive sclerosing poliodystrophy [RCV000681479] |
Chr2:108929289 [GRCh38] Chr2:109545745 [GRCh37] Chr2:2q13 |
likely pathogenic |
NM_022336.4(EDAR):c.1089del (p.Tyr364fs) |
deletion |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000686923] |
Chr2:108897165 [GRCh38] Chr2:109513621 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.1169dup (p.Met391fs) |
duplication |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000702440] |
Chr2:108897084..108897085 [GRCh38] Chr2:109513540..109513541 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.931G>T (p.Glu311Ter) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000689707] |
Chr2:108907892 [GRCh38] Chr2:109524348 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.175-2A>G |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000694146] |
Chr2:108929381 [GRCh38] Chr2:109545837 [GRCh37] Chr2:2q13 |
likely pathogenic |
NC_000002.12:g.(?_108719587)_(108963283_?)del |
deletion |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000708268] |
Chr2:108719587..108963283 [GRCh38] Chr2:109336043..109579739 [GRCh37] Chr2:2q13 |
uncertain significance |
Single allele |
inversion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3 |
likely pathogenic |
NM_022336.4(EDAR):c.275A>G (p.Asp92Gly) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000691089] |
Chr2:108929279 [GRCh38] Chr2:109545735 [GRCh37] Chr2:2q13 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NC_000002.11:g.(?_109367964)_(109579739_?)dup |
duplication |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000814613] |
Chr2:108751508..108963283 [GRCh38] Chr2:109367964..109579739 [GRCh37] Chr2:2q13 |
uncertain significance |
GRCh37/hg19 2q12.3(chr2:109573153-109588356)x1 |
copy number loss |
not provided [RCV000753079] |
Chr2:109573153..109588356 [GRCh37] Chr2:2q12.3 |
benign |
NM_022336.4(EDAR):c.*2141T>C |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135180] |
Chr2:108894766 [GRCh38] Chr2:109511222 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.*2016G>C |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135182] |
Chr2:108894891 [GRCh38] Chr2:109511347 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*791A>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135317] |
Chr2:108896116 [GRCh38] Chr2:109512572 [GRCh37] Chr2:2q13 |
uncertain significance |
NC_000002.12:g.(?_107988146)_(108963283_?)del |
deletion |
Neuronopathy, distal hereditary motor, type viia [RCV001031168] |
Chr2:108604602..109579739 [GRCh37] Chr2:2q12.3 |
uncertain significance |
NM_022336.4(EDAR):c.208G>A (p.Gly70Ser) |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001134062] |
Chr2:108929346 [GRCh38] Chr2:109545802 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.156G>A (p.Pro52=) |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001134065] |
Chr2:108930138 [GRCh38] Chr2:109546594 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.1017C>T (p.Val339=) |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135447]|not provided [RCV000877687] |
Chr2:108906315 [GRCh38] Chr2:109522771 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.227C>T (p.Ala76Val) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000981769] |
Chr2:108929327 [GRCh38] Chr2:109545783 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.1179C>T (p.Asp393=) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000877169]|Hypohidrotic ectodermal dysplasia [RCV001133942] |
Chr2:108897075 [GRCh38] Chr2:109513531 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.1130T>C (p.Leu377Pro) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001042797] |
Chr2:108897124 [GRCh38] Chr2:109513580 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.656-1G>A |
single nucleotide variant |
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000778557] |
Chr2:108910851 [GRCh38] Chr2:109527307 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.108C>G (p.Tyr36Ter) |
single nucleotide variant |
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000778558] |
Chr2:108930186 [GRCh38] Chr2:109546642 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.243A>G (p.Lys81=) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000872098]|Hypohidrotic ectodermal dysplasia [RCV001134060] |
Chr2:108929311 [GRCh38] Chr2:109545767 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.122C>A (p.Thr41Lys) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000815613] |
Chr2:108930172 [GRCh38] Chr2:109546628 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.360C>T (p.Tyr120=) |
single nucleotide variant |
not provided [RCV000937724] |
Chr2:108923450 [GRCh38] Chr2:109539906 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.1061_1063AGA[1] (p.Lys355del) |
microsatellite |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000805325] |
Chr2:108897188..108897190 [GRCh38] Chr2:109513644..109513646 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*976A>G |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135313] |
Chr2:108895931 [GRCh38] Chr2:109512387 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.-18-14C>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135567] |
Chr2:108931046 [GRCh38] Chr2:109547502 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.328G>A (p.Asp110Asn) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000795267] |
Chr2:108929226 [GRCh38] Chr2:109545682 [GRCh37] Chr2:2q13 |
uncertain significance |
NC_000002.11:g.(?_109336043)_(109579739_?)dup |
duplication |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000811356] |
Chr2:108719587..108963283 [GRCh38] Chr2:109336043..109579739 [GRCh37] Chr2:2q13 |
uncertain significance |
NC_000002.12:g.(?_108729112)_(108963283_?)dup |
duplication |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001032251] |
Chr2:109345568..109579739 [GRCh37] Chr2:2q12.3 |
uncertain significance |
NM_022336.4(EDAR):c.*1108G>A |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001133825] |
Chr2:108895799 [GRCh38] Chr2:109512255 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.1088del (p.Thr363fs) |
deletion |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000796673] |
Chr2:108897166 [GRCh38] Chr2:109513622 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.1169del (p.Gly390fs) |
deletion |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001065716] |
Chr2:108897085 [GRCh38] Chr2:109513541 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.*2078T>C |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135181] |
Chr2:108894829 [GRCh38] Chr2:109511285 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.736G>A (p.Val246Met) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000871127]|Hypohidrotic ectodermal dysplasia [RCV001130392] |
Chr2:108910527 [GRCh38] Chr2:109526983 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.207delinsTT (p.Gly70fs) |
indel |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000782363] |
Chr2:108929347 [GRCh38] Chr2:109545803 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000782364] |
Chr2:108896954 [GRCh38] Chr2:109513410 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.1142T>C (p.Phe381Ser) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000814466] |
Chr2:108897112 [GRCh38] Chr2:109513568 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1710G>C |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130143] |
Chr2:108895197 [GRCh38] Chr2:109511653 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1703G>A |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130144] |
Chr2:108895204 [GRCh38] Chr2:109511660 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*639T>G |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130272] |
Chr2:108896268 [GRCh38] Chr2:109512724 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*485C>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130278] |
Chr2:108896422 [GRCh38] Chr2:109512878 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*447T>C |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130983] |
Chr2:108896460 [GRCh38] Chr2:109512916 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*242T>C |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130987] |
Chr2:108896665 [GRCh38] Chr2:109513121 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.606C>T (p.Ile202=) |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001131111] |
Chr2:108910996 [GRCh38] Chr2:109527452 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.560C>T (p.Ala187Val) |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001131112] |
Chr2:108911042 [GRCh38] Chr2:109527498 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.755A>G (p.Lys252Arg) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV001130390] |
Chr2:108910508 [GRCh38] Chr2:109526964 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.731-4G>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130393] |
Chr2:108910536 [GRCh38] Chr2:109526992 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.1156G>A (p.Asp386Asn) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001239215] |
Chr2:108897098 [GRCh38] Chr2:109513554 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.1208C>T (p.Thr403Met) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001223855] |
Chr2:108897046 [GRCh38] Chr2:109513502 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.979A>T (p.Lys327Ter) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001227034] |
Chr2:108906353 [GRCh38] Chr2:109522809 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.1029T>C (p.Leu343=) |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135446] |
Chr2:108897225 [GRCh38] Chr2:109513681 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.1305G>A (p.Ala435=) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000872821] |
Chr2:108896949 [GRCh38] Chr2:109513405 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.1143C>T (p.Phe381=) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV001133943]|not provided [RCV000878680] |
Chr2:108897111 [GRCh38] Chr2:109513567 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.726C>T (p.Ala242=) |
single nucleotide variant |
not provided [RCV000946155] |
Chr2:108910780 [GRCh38] Chr2:109527236 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.*714T>G |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130271] |
Chr2:108896193 [GRCh38] Chr2:109512649 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*486G>A |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130277] |
Chr2:108896421 [GRCh38] Chr2:109512877 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.-256C>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130502] |
Chr2:108989197 [GRCh38] Chr2:109605653 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1366A>G |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130851] |
Chr2:108895541 [GRCh38] Chr2:109511997 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.675G>A (p.Pro225=) |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001131108] |
Chr2:108910831 [GRCh38] Chr2:109527287 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.*2376T>C |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135178] |
Chr2:108894531 [GRCh38] Chr2:109510987 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*867A>G |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135316] |
Chr2:108896040 [GRCh38] Chr2:109512496 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.849C>A (p.Ser283Arg) |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135451] |
Chr2:108907974 [GRCh38] Chr2:109524430 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.93C>A (p.Cys31Ter) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001027975] |
Chr2:108930201 [GRCh38] Chr2:109546657 [GRCh37] Chr2:2q13 |
pathogenic |
GRCh37/hg19 2q12.3-13(chr2:108499809-110504318)x1 |
copy number loss |
not provided [RCV001005304] |
Chr2:108499809..110504318 [GRCh37] Chr2:2q12.3-13 |
likely pathogenic |
NM_022336.4(EDAR):c.*1798G>C |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130140] |
Chr2:108895109 [GRCh38] Chr2:109511565 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*546C>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130275] |
Chr2:108896361 [GRCh38] Chr2:109512817 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1435G>A |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130850] |
Chr2:108895472 [GRCh38] Chr2:109511928 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.973C>T (p.Arg325Trp) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001050481] |
Chr2:108906359 [GRCh38] Chr2:109522815 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*254C>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130986] |
Chr2:108896653 [GRCh38] Chr2:109513109 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.*191C>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130988] |
Chr2:108896716 [GRCh38] Chr2:109513172 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.802A>T (p.Ser268Cys) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001069629]|Hypohidrotic ectodermal dysplasia [RCV001130389] |
Chr2:108910461 [GRCh38] Chr2:109526917 [GRCh37] Chr2:2q13 |
uncertain significance |
NC_000002.12:g.(?_107988146)_(108963283_?)dup |
duplication |
Neuronopathy, distal hereditary motor, type viia [RCV001033739] |
Chr2:108604602..109579739 [GRCh37] Chr2:2q12.3 |
uncertain significance |
NM_022336.4(EDAR):c.*1678C>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130145] |
Chr2:108895229 [GRCh38] Chr2:109511685 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.*1364T>G |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130852] |
Chr2:108895543 [GRCh38] Chr2:109511999 [GRCh37] Chr2:2q13 |
likely benign |
NM_022336.4(EDAR):c.*1298G>C |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130854] |
Chr2:108895609 [GRCh38] Chr2:109512065 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.1214G>A (p.Gly405Asp) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001203045] |
Chr2:108897040 [GRCh38] Chr2:109513496 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*2189G>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135179] |
Chr2:108894718 [GRCh38] Chr2:109511174 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.849C>T (p.Ser283=) |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135450] |
Chr2:108907974 [GRCh38] Chr2:109524430 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.-71C>G |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001135569] |
Chr2:108989012 [GRCh38] Chr2:109605468 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.575T>G (p.Met192Arg) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001042770] |
Chr2:108911027 [GRCh38] Chr2:109527483 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1647C>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130146] |
Chr2:108895260 [GRCh38] Chr2:109511716 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1563C>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130848] |
Chr2:108895344 [GRCh38] Chr2:109511800 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.1214G>C (p.Gly405Ala) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001058350] |
Chr2:108897040 [GRCh38] Chr2:109513496 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.1038G>A (p.Thr346=) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001040675] |
Chr2:108897216 [GRCh38] Chr2:109513672 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1199C>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001133821] |
Chr2:108895708 [GRCh38] Chr2:109512164 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1133C>T |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001133823] |
Chr2:108895774 [GRCh38] Chr2:109512230 [GRCh37] Chr2:2q13 |
benign |
NM_022336.4(EDAR):c.71C>A (p.Ala24Asp) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001205819] |
Chr2:108930223 [GRCh38] Chr2:109546679 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*402G>A |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130984] |
Chr2:108896505 [GRCh38] Chr2:109512961 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.392A>G (p.Tyr131Cys) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001055181] |
Chr2:108923418 [GRCh38] Chr2:109539874 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.803+4T>G |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV001202990] |
Chr2:108910456 [GRCh38] Chr2:109526912 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.*1774G>A |
single nucleotide variant |
Hypohidrotic ectodermal dysplasia [RCV001130141] |
Chr2:108895133 [GRCh38] Chr2:109511589 [GRCh37] Chr2:2q13 |
benign |
GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1 |
copy number loss |
not provided [RCV001259645] |
Chr2:107029680..113187742 [GRCh37] Chr2:2q12.2-13 |
pathogenic |
NM_022336.4(EDAR):c.77C>T (p.Ala26Val) |
single nucleotide variant |
Inborn genetic diseases [RCV001265982] |
Chr2:108930217 [GRCh38] Chr2:109546673 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.871G>A (p.Ala291Thr) |
single nucleotide variant |
Non-syndromic oligodontia [RCV001261886] |
Chr2:108907952 [GRCh38] Chr2:109524408 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.404G>A (p.Cys135Tyr) |
single nucleotide variant |
Non-syndromic oligodontia [RCV001261882] |
Chr2:108923406 [GRCh38] Chr2:109539862 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.1007T>A (p.Val336Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV001267603] |
Chr2:108906325 [GRCh38] Chr2:109522781 [GRCh37] Chr2:2q13 |
uncertain significance |
NM_022336.4(EDAR):c.338G>A (p.Cys113Tyr) |
single nucleotide variant |
Oligodontia [RCV001267873] |
Chr2:108929216 [GRCh38] Chr2:109545672 [GRCh37] Chr2:2q13 |
pathogenic |
NM_022336.4(EDAR):c.287T>C (p.Phe96Ser) |
single nucleotide variant |
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001271097] |
Chr2:108929267 [GRCh38] Chr2:109545723 [GRCh37] Chr2:2q13 |
likely pathogenic |