| 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] |
Chr2:108930972 [GRCh38]
Chr2:109547428 [GRCh37]
Chr2:2q13 |
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] |
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]|ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT [RCV000032598]|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant [RCV000032598]|Progressive sclerosing poliodystrophy [RCV000681480] |
Chr2:108929288 [GRCh38]
Chr2:109545744 [GRCh37]
Chr2:2q13 |
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]|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant [RCV000006210]|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 dominant hypohidrotic ectodermal dysplasia [RCV000174398]|Autosomal dominant hypohidrotic ectodermal dysplasia [RCV000755721]|ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT [RCV000006211]|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]|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]|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 |
Nonsyndromic microcephaly [RCV000051261]|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 |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053141]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053141]|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 |
Glaucoma [RCV000052947]|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 |
not specified [RCV000255100] |
Chr2:108912744 [GRCh38]
Chr2:109529200 [GRCh37]
Chr2:2q13 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser) |
single nucleotide variant |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000174400]|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]|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 |
uncertain significance |
| NM_022336.4(EDAR):c.1056C>T (p.Cys352=) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000269800]|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 |
not provided [RCV000143983] |
Chr2:108929347 [GRCh38]
Chr2:109545803 [GRCh37]
Chr2:2q13 |
not provided |
| NM_022336.4(EDAR):c.655+30T>C |
single nucleotide variant |
not provided [RCV000143984] |
Chr2:108910917 [GRCh38]
Chr2:109527373 [GRCh37]
Chr2:2q13 |
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 |
uncertain significance |
| NM_022336.4(EDAR):c.750C>T (p.Ser250=) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000285005]|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]|not specified [RCV000156147] |
Chr2:108923457 [GRCh38]
Chr2:109539913 [GRCh37]
Chr2:2q13 |
benign|likely benign |
| NC_000002.11:g.(?_109513363)_(109522790_?)del |
deletion |
Autosomal dominant hypohidrotic ectodermal dysplasia [RCV000150609]|Autosomal dominant hypohidrotic ectodermal dysplasia syndrome [RCV000150609]|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] |
Chr2:108896579 [GRCh38]
Chr2:109513035 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_022336.4(EDAR):c.186C>T (p.Tyr62=) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000390480] |
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] |
Chr2:108930148 [GRCh38]
Chr2:109546604 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_022336.4(EDAR):c.607G>A (p.Val203Ile) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000380246]|not specified [RCV000523863] |
Chr2:108910995 [GRCh38]
Chr2:109527451 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter) |
single nucleotide variant |
Autosomal dominant hypohidrotic ectodermal dysplasia [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 syndrome [RCV000217502]|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 |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [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] |
Chr2:108907979 [GRCh38]
Chr2:109524435 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_022336.4(EDAR):c.1183A>G (p.Met395Val) |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000333021] |
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] |
Chr2:108930226 [GRCh38]
Chr2:109546682 [GRCh37]
Chr2:2q13 |
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 |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000339609] |
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] |
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]|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] |
Chr2:108989179 [GRCh38]
Chr2:109605635 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter) |
single nucleotide variant |
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] |
Chr2:108989130 [GRCh38]
Chr2:109605586 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) |
single nucleotide variant |
not provided [RCV000864277]|not specified [RCV000243038] |
Chr2:108897116 [GRCh38]
Chr2:109513572 [GRCh37]
Chr2:2q13 |
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]|not specified [RCV000247995] |
Chr2:108929235 [GRCh38]
Chr2:109545691 [GRCh37]
Chr2:2q13 |
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]|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] |
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] |
Chr2:108895972 [GRCh38]
Chr2:109512428 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_022336.4(EDAR):c.*1900C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000354350] |
Chr2:108895007 [GRCh38]
Chr2:109511463 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_022336.4(EDAR):c.*1129A>G |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000400545] |
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] |
Chr2:108896150 [GRCh38]
Chr2:109512606 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_022336.4(EDAR):c.*1107C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000290599] |
Chr2:108895800 [GRCh38]
Chr2:109512256 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_022336.4(EDAR):c.*895C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000305290] |
Chr2:108896012 [GRCh38]
Chr2:109512468 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_022336.4(EDAR):c.*999C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000340908] |
Chr2:108895908 [GRCh38]
Chr2:109512364 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_022336.4(EDAR):c.*625C>A |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000408038] |
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] |
Chr2:108895659 [GRCh38]
Chr2:109512115 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_022336.4(EDAR):c.*188G>C |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000330847] |
Chr2:108896719 [GRCh38]
Chr2:109513175 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_022336.4(EDAR):c.*2151_*2154dup |
duplication |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000323109] |
Chr2:108894753..108894756 [GRCh38]
Chr2:109511209..109511212 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_022336.4(EDAR):c.960C>T (p.Ala320=) |
single nucleotide variant |
not provided [RCV000945336]|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] |
Chr2:108896966 [GRCh38]
Chr2:109513422 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_022336.4(EDAR):c.224C>T (p.Pro75Leu) |
single nucleotide variant |
not specified [RCV000263826] |
Chr2:108929330 [GRCh38]
Chr2:109545786 [GRCh37]
Chr2:2q13 |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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] |
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 |
Autosomal dominant hypohidrotic ectodermal dysplasia [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] |
Chr2:108929262 [GRCh38]
Chr2:109545718 [GRCh37]
Chr2:2q13 |
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] |
Chr2:108897085 [GRCh38]
Chr2:109513541 [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_000002.11:g.(?_109336043)_(109579739_?)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.1017C>T (p.Val339=) |
single nucleotide variant |
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 |
not provided [RCV000981769] |
Chr2:108929327 [GRCh38]
Chr2:109545783 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_022336.4(EDAR):c.1179C>T (p.Asp393=) |
single nucleotide variant |
not provided [RCV000877169] |
Chr2:108897075 [GRCh38]
Chr2:109513531 [GRCh37]
Chr2:2q13 |
benign |
| NM_022336.4(EDAR):c.656-1G>A |
single nucleotide variant |
Autosomal dominant hypohidrotic ectodermal dysplasia [RCV000778557] |
Chr2:108910851 [GRCh38]
Chr2:109527307 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_022336.4(EDAR):c.108C>G (p.Tyr36Ter) |
single nucleotide variant |
Autosomal dominant hypohidrotic ectodermal dysplasia [RCV000778558] |
Chr2:108930186 [GRCh38]
Chr2:109546642 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_022336.4(EDAR):c.243A>G (p.Lys81=) |
single nucleotide variant |
not provided [RCV000872098] |
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.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 |
| 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.736G>A (p.Val246Met) |
single nucleotide variant |
not provided [RCV000871127] |
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.1305G>A (p.Ala435=) |
single nucleotide variant |
not provided [RCV000872821] |
Chr2:108896949 [GRCh38]
Chr2:109513405 [GRCh37]
Chr2:2q13 |
benign |
| NM_022336.4(EDAR):c.1143C>T (p.Phe381=) |
single nucleotide variant |
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 |
Gene-Chemical Interaction Annotations
