| NM_006267.5(RANBP2):c.3228_3229delinsAA (p.Gln1077Lys) |
indel |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000551201] |
Chr2:108763767..108763768 [GRCh38]
Chr2:109380223..109380224 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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_006267.5(RANBP2):c.2243C>T (p.Ser748Leu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000549084] |
Chr2:108754945 [GRCh38]
Chr2:109371401 [GRCh37]
Chr2:2q13 |
likely benign|uncertain significance |
| 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.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_006267.5(RANBP2):c.4950A>G (p.Thr1650=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000526818] |
Chr2:108765489 [GRCh38]
Chr2:109381945 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.7474A>C (p.Thr2492Pro) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000527202] |
Chr2:108768013 [GRCh38]
Chr2:109384469 [GRCh37]
Chr2:2q13 |
benign |
| 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_006267.5(RANBP2):c.6171G>A (p.Leu2057=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000533038] |
Chr2:108766710 [GRCh38]
Chr2:109383166 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.3153T>C (p.Val1051=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000547723] |
Chr2:108763692 [GRCh38]
Chr2:109380148 [GRCh37]
Chr2:2q13 |
likely benign |
| 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_006267.5(RANBP2):c.6060C>T (p.Pro2020=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000554459] |
Chr2:108766599 [GRCh38]
Chr2:109383055 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.6033C>T (p.Ile2011=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000544324] |
Chr2:108766572 [GRCh38]
Chr2:109383028 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.5653A>G (p.Thr1885Ala) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000554948] |
Chr2:108766192 [GRCh38]
Chr2:109382648 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.1718C>G (p.Ala573Gly) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000532671] |
Chr2:108751957 [GRCh38]
Chr2:109368413 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.4801G>T (p.Gly1601Ter) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000655953] |
Chr2:108765340 [GRCh38]
Chr2:109381796 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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_006267.5(RANBP2):c.7850-6T>G |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000544112] |
Chr2:108771695 [GRCh38]
Chr2:109388151 [GRCh37]
Chr2:2q13 |
benign |
| 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_006267.5(RANBP2):c.1738G>A (p.Glu580Lys) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000542999] |
Chr2:108751977 [GRCh38]
Chr2:109368433 [GRCh37]
Chr2:2q13 |
likely benign|uncertain significance |
| NM_006267.5(RANBP2):c.3242A>G (p.Tyr1081Cys) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000524654] |
Chr2:108763781 [GRCh38]
Chr2:109380237 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.5452C>T (p.Pro1818Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000525208] |
Chr2:108765991 [GRCh38]
Chr2:109382447 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.8166G>A (p.Glu2722=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000543877] |
Chr2:108772920 [GRCh38]
Chr2:109389376 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.1284A>G (p.Arg428=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000544227] |
Chr2:108751274 [GRCh38]
Chr2:109367730 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2056-10A>G |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000551733] |
Chr2:108753815 [GRCh38]
Chr2:109370271 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2625A>G (p.Val875=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000545048] |
Chr2:108762123 [GRCh38]
Chr2:109378579 [GRCh37]
Chr2:2q13 |
benign |
| 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_006267.5(RANBP2):c.4530A>G (p.Leu1510=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000545334]|not specified [RCV000611989] |
Chr2:108765069 [GRCh38]
Chr2:109381525 [GRCh37]
Chr2:2q13 |
benign|likely benign |
| NM_006267.5(RANBP2):c.4999G>A (p.Gly1667Arg) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000547468] |
Chr2:108765538 [GRCh38]
Chr2:109381994 [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_006267.5(RANBP2):c.5096C>T (p.Ser1699Phe) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000526599] |
Chr2:108765635 [GRCh38]
Chr2:109382091 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3612C>T (p.Phe1204=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000547182] |
Chr2:108764151 [GRCh38]
Chr2:109380607 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.2997A>G (p.Ile999Met) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000547943] |
Chr2:108763536 [GRCh38]
Chr2:109379992 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.746C>T (p.Thr249Ile) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000548086] |
Chr2:108736213 [GRCh38]
Chr2:109352669 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.739C>T (p.Leu247Phe) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000542449] |
Chr2:108736206 [GRCh38]
Chr2:109352662 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) |
single nucleotide variant |
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 [RCV000008868]|Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000008868] |
Chr2:108751993 [GRCh38]
Chr2:109368449 [GRCh37]
Chr2:2q13 |
pathogenic|risk factor |
| NM_006267.5(RANBP2):c.1958C>T (p.Thr653Ile) |
single nucleotide variant |
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 [RCV000008869]|Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000008869] |
Chr2:108753466 [GRCh38]
Chr2:109369922 [GRCh37]
Chr2:2q13 |
pathogenic|risk factor |
| NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) |
single nucleotide variant |
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 [RCV000008870]|Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000008870] |
Chr2:108753474 [GRCh38]
Chr2:109369930 [GRCh37]
Chr2:2q13 |
pathogenic|risk factor |
| 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_144978.2(CCDC138):c.230C>T (p.Pro77Leu) |
single nucleotide variant |
Malignant melanoma [RCV000065015] |
Chr2:108788930 [GRCh38]
Chr2:109405386 [GRCh37]
Chr2:108771818 [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.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.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.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 |
| 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_006267.5(RANBP2):c.2351G>A (p.Arg784Lys) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000531713]|not provided [RCV000514780] |
Chr2:108755053 [GRCh38]
Chr2:109371509 [GRCh37]
Chr2:2q13 |
benign|likely benign |
| 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.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_006267.5(RANBP2):c.73-6T>A |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000527431]|not provided [RCV000514181]|not specified [RCV000603997] |
Chr2:108729126 [GRCh38]
Chr2:109345582 [GRCh37]
Chr2:2q13 |
benign|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_006267.5(RANBP2):c.3967G>T (p.Val1323Leu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000545865] |
Chr2:108764506 [GRCh38]
Chr2:109380962 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3161A>G (p.Gln1054Arg) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000526008] |
Chr2:108763700 [GRCh38]
Chr2:109380156 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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_006267.5(RANBP2):c.627G>A (p.Gln209=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000543255] |
Chr2:108735753 [GRCh38]
Chr2:109352209 [GRCh37]
Chr2:2q13 |
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.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.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 |
| 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 |
| 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 |
| Single allele |
duplication |
Autism spectrum disorder [RCV000208724]|Autism spectrum disorders [RCV000208724] |
Chr2:109696399..110327308 [GRCh38]
Chr2:110453976..111084885 [GRCh37]
Chr2:2q13 |
uncertain significance |
| GRCh38/hg38 2q13(chr2:109623720-110207160)x1 |
copy number loss |
See cases [RCV000133772] |
Chr2:109623720..110207160 [GRCh38]
Chr2:110381297..110964737 [GRCh37]
Chr2:109738586..110322026 [NCBI36]
Chr2:2q13 |
benign |
| 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.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.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_006267.5(RANBP2):c.7066G>A (p.Asp2356Asn) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000550452] |
Chr2:108767605 [GRCh38]
Chr2:109384061 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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.*2426C>T |
single nucleotide variant |
Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000268013] |
Chr2:108894481 [GRCh38]
Chr2:109510937 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.7760A>G (p.Gln2587Arg) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000530705] |
Chr2:108768299 [GRCh38]
Chr2:109384755 [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_006267.5(RANBP2):c.9354A>G (p.Pro3118=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000549696] |
Chr2:108782847 [GRCh38]
Chr2:109399303 [GRCh37]
Chr2:2q13 |
likely benign |
| 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_006267.5(RANBP2):c.8334A>G (p.Val2778=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000551514] |
Chr2:108775773 [GRCh38]
Chr2:109392229 [GRCh37]
Chr2:2q13 |
likely benign |
| 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 |
| 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 |
| 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_006267.5(RANBP2):c.1172C>G (p.Ser391Cys) |
single nucleotide variant |
not specified [RCV000520852] |
Chr2:108749028 [GRCh38]
Chr2:109365484 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3653A>G (p.Asn1218Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000552535] |
Chr2:108764192 [GRCh38]
Chr2:109380648 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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] |
Chr2:108894752..108894753 [GRCh38]
Chr2:109511208..109511209 [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 |
| NM_006267.5(RANBP2):c.4972T>G (p.Phe1658Val) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646004]|not specified [RCV000489412] |
Chr2:108765511 [GRCh38]
Chr2:109381967 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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_006267.5(RANBP2):c.7340C>T (p.Ser2447Phe) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000549183] |
Chr2:108767879 [GRCh38]
Chr2:109384335 [GRCh37]
Chr2:2q13 |
likely benign|uncertain significance |
| NM_006267.5(RANBP2):c.7966A>G (p.Thr2656Ala) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000559620]|not specified [RCV000489853] |
Chr2:108771817 [GRCh38]
Chr2:109388273 [GRCh37]
Chr2:2q13 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006267.5(RANBP2):c.543G>A (p.Leu181=) |
single nucleotide variant |
not specified [RCV000606521] |
Chr2:108735669 [GRCh38]
Chr2:109352125 [GRCh37]
Chr2:2q13 |
likely benign |
| 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_006267.5(RANBP2):c.225C>G (p.Asn75Lys) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000527481] |
Chr2:108730858 [GRCh38]
Chr2:109347314 [GRCh37]
Chr2:2q13 |
benign |
| 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_006267.5(RANBP2):c.3461A>T (p.His1154Leu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000528138] |
Chr2:108764000 [GRCh38]
Chr2:109380456 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.2142C>T (p.Thr714=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000550565] |
Chr2:108753911 [GRCh38]
Chr2:109370367 [GRCh37]
Chr2:2q13 |
likely benign |
| 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.-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.-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_006267.5(RANBP2):c.8599+16G>A |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000603361] |
Chr2:108777247 [GRCh38]
Chr2:109393703 [GRCh37]
Chr2:2q13 |
likely benign |
| 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_006267.5(RANBP2):c.4826A>T (p.Gln1609Leu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000548563] |
Chr2:108765365 [GRCh38]
Chr2:109381821 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.2410G>A (p.Ala804Thr) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000530505] |
Chr2:108755203 [GRCh38]
Chr2:109371659 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.7982A>G (p.Lys2661Arg) |
single nucleotide variant |
not specified [RCV000522557] |
Chr2:108771833 [GRCh38]
Chr2:109388289 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000529003] |
Chr2:108767711 [GRCh38]
Chr2:109384167 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.2392A>G (p.Lys798Glu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000552067] |
Chr2:108755185 [GRCh38]
Chr2:109371641 [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 |
| 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_006267.5(RANBP2):c.5175A>G (p.Glu1725=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000613401]|not provided [RCV000964605] |
Chr2:108765714 [GRCh38]
Chr2:109382170 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.4760G>T (p.Gly1587Val) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000534076] |
Chr2:108765299 [GRCh38]
Chr2:109381755 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.5217C>T (p.Ala1739=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000541342]|not provided [RCV000842640] |
Chr2:108765756 [GRCh38]
Chr2:109382212 [GRCh37]
Chr2:2q13 |
benign|likely benign |
| NM_006267.5(RANBP2):c.5561A>G (p.Asn1854Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539924] |
Chr2:108766100 [GRCh38]
Chr2:109382556 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.4994_4996AGG[1] (p.Glu1666del) |
microsatellite |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000537269] |
Chr2:108765533..108765535 [GRCh38]
Chr2:109381989..109381991 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.4498G>C (p.Ala1500Pro) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535126] |
Chr2:108765037 [GRCh38]
Chr2:109381493 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2182A>G (p.Asn728Asp) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539001] |
Chr2:108753951 [GRCh38]
Chr2:109370407 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.911_913GTA[1] (p.Ser305del) |
microsatellite |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539747] |
Chr2:108740615..108740617 [GRCh38]
Chr2:109357071..109357073 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.432A>G (p.Glu144=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000560523] |
Chr2:108735558 [GRCh38]
Chr2:109352014 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.2084A>C (p.Glu695Ala) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535662] |
Chr2:108753853 [GRCh38]
Chr2:109370309 [GRCh37]
Chr2:2q13 |
likely benign|uncertain significance |
| NM_006267.5(RANBP2):c.6856C>G (p.Gln2286Glu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535692] |
Chr2:108767395 [GRCh38]
Chr2:109383851 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3033G>A (p.Pro1011=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000558351]|not specified [RCV000609979] |
Chr2:108763572 [GRCh38]
Chr2:109380028 [GRCh37]
Chr2:2q13 |
benign|likely benign |
| NM_006267.5(RANBP2):c.8461A>C (p.Thr2821Pro) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000536259] |
Chr2:108775900 [GRCh38]
Chr2:109392356 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.9405A>G (p.Gly3135=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000538420] |
Chr2:108783631 [GRCh38]
Chr2:109400087 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2383-3T>C |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000542012] |
Chr2:108755173 [GRCh38]
Chr2:109371629 [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_006267.5(RANBP2):c.5249C>G (p.Pro1750Arg) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000445625] |
Chr2:108765788 [GRCh38]
Chr2:109382244 [GRCh37]
Chr2:2q13 |
likely pathogenic |
| 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_006267.5(RANBP2):c.-45C>T |
single nucleotide variant |
not specified [RCV000423758] |
Chr2:108719562 [GRCh38]
Chr2:109336018 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.6349G>A (p.Ala2117Thr) |
single nucleotide variant |
not specified [RCV000423778] |
Chr2:108766888 [GRCh38]
Chr2:109383344 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.637-18G>A |
single nucleotide variant |
not specified [RCV000427156] |
Chr2:108736086 [GRCh38]
Chr2:109352542 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.2955G>A (p.Pro985=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000559712]|not specified [RCV000427190] |
Chr2:108763494 [GRCh38]
Chr2:109379950 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.2559T>A (p.Asp853Glu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000559917]|not specified [RCV000445101] |
Chr2:108758505 [GRCh38]
Chr2:109374961 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.8670C>T (p.Ala2890=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000551012]|not specified [RCV000417552] |
Chr2:108781339 [GRCh38]
Chr2:109397795 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2056-19A>G |
single nucleotide variant |
not specified [RCV000420924] |
Chr2:108753806 [GRCh38]
Chr2:109370262 [GRCh37]
Chr2:2q13 |
benign|likely benign |
| NM_006267.5(RANBP2):c.7850-5T>A |
single nucleotide variant |
not specified [RCV000427418] |
Chr2:108771696 [GRCh38]
Chr2:109388152 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.2339C>T (p.Pro780Leu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000553569]|not specified [RCV000434550] |
Chr2:108755041 [GRCh38]
Chr2:109371497 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.2173A>G (p.Ser725Gly) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000528682]|not specified [RCV000417954] |
Chr2:108753942 [GRCh38]
Chr2:109370398 [GRCh37]
Chr2:2q13 |
benign|likely benign|uncertain significance |
| NM_006267.5(RANBP2):c.816G>C (p.Leu272Phe) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000558174]|not specified [RCV000417963] |
Chr2:108740522 [GRCh38]
Chr2:109356978 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.2550A>G (p.Ser850=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646024]|not specified [RCV000418014] |
Chr2:108758496 [GRCh38]
Chr2:109374952 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.1209C>T (p.Ser403=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000529607]|not specified [RCV000427926] |
Chr2:108749065 [GRCh38]
Chr2:109365521 [GRCh37]
Chr2:2q13 |
benign|likely benign |
| NM_006267.5(RANBP2):c.6609G>A (p.Ala2203=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535955]|not specified [RCV000431568] |
Chr2:108767148 [GRCh38]
Chr2:109383604 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.1632-16T>C |
single nucleotide variant |
not specified [RCV000438656] |
Chr2:108751855 [GRCh38]
Chr2:109368311 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000445589]|not provided [RCV000859670]|not specified [RCV000419020] |
Chr2:108768038 [GRCh38]
Chr2:109384494 [GRCh37]
Chr2:2q13 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006267.5(RANBP2):c.72+11C>G |
single nucleotide variant |
not specified [RCV000424792] |
Chr2:108719689 [GRCh38]
Chr2:109336145 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.5489A>G (p.His1830Arg) |
single nucleotide variant |
not specified [RCV000439072] |
Chr2:108766028 [GRCh38]
Chr2:109382484 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.-41G>T |
single nucleotide variant |
not specified [RCV000439089] |
Chr2:108719566 [GRCh38]
Chr2:109336022 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.3934G>A (p.Val1312Ile) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000530818]|not specified [RCV000442777] |
Chr2:108764473 [GRCh38]
Chr2:109380929 [GRCh37]
Chr2:2q13 |
likely benign|uncertain significance |
| NM_006267.5(RANBP2):c.5941T>A (p.Ser1981Thr) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000533259]|not specified [RCV000428797] |
Chr2:108766480 [GRCh38]
Chr2:109382936 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.1456-7A>G |
single nucleotide variant |
not specified [RCV000435663] |
Chr2:108751521 [GRCh38]
Chr2:109367977 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.3597G>A (p.Ala1199=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000532455]|not specified [RCV000422066] |
Chr2:108764136 [GRCh38]
Chr2:109380592 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.8113+12G>A |
single nucleotide variant |
not specified [RCV000428994] |
Chr2:108772593 [GRCh38]
Chr2:109389049 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2520T>C (p.Arg840=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000545116]|not specified [RCV000436016] |
Chr2:108758466 [GRCh38]
Chr2:109374922 [GRCh37]
Chr2:2q13 |
benign|likely benign |
| NM_006267.5(RANBP2):c.4443A>G (p.Gly1481=) |
single nucleotide variant |
not specified [RCV000419571] |
Chr2:108764982 [GRCh38]
Chr2:109381438 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.405+17T>G |
single nucleotide variant |
not specified [RCV000443418] |
Chr2:108731491 [GRCh38]
Chr2:109347947 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.7850-7G>C |
single nucleotide variant |
not specified [RCV000443433] |
Chr2:108771694 [GRCh38]
Chr2:109388150 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.560A>G (p.His187Arg) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000693103]|not specified [RCV000419803] |
Chr2:108735686 [GRCh38]
Chr2:109352142 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.1274-14T>A |
single nucleotide variant |
not specified [RCV000422343] |
Chr2:108751250 [GRCh38]
Chr2:109367706 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000552434]|not specified [RCV000425988] |
Chr2:108768293 [GRCh38]
Chr2:109384749 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.6643C>G (p.Pro2215Ala) |
single nucleotide variant |
not specified [RCV000429457] |
Chr2:108767182 [GRCh38]
Chr2:109383638 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.1064-13A>T |
single nucleotide variant |
not specified [RCV000443547] |
Chr2:108748907 [GRCh38]
Chr2:109365363 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.2982A>T (p.Ala994=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000537735]|not specified [RCV000443896] |
Chr2:108763521 [GRCh38]
Chr2:109379977 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.9369+4G>A |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000527967]|not specified [RCV000430083] |
Chr2:108782866 [GRCh38]
Chr2:109399322 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2330A>G (p.His777Arg) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000538640]|not specified [RCV000440405] |
Chr2:108755032 [GRCh38]
Chr2:109371488 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.6612C>A (p.Ala2204=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000546469]|not specified [RCV000440460] |
Chr2:108767151 [GRCh38]
Chr2:109383607 [GRCh37]
Chr2:2q13 |
benign|likely benign |
| NM_006267.5(RANBP2):c.1535C>T (p.Pro512Leu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000802922]|not provided [RCV000435639] |
Chr2:108751607 [GRCh38]
Chr2:109368063 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.2562A>G (p.Gly854=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000530004]|not specified [RCV000440607] |
Chr2:108758508 [GRCh38]
Chr2:109374964 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.2466+17C>T |
single nucleotide variant |
not specified [RCV000444332] |
Chr2:108755276 [GRCh38]
Chr2:109371732 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.9585C>T (p.Gly3195=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000553195]|not specified [RCV000444408] |
Chr2:108783811 [GRCh38]
Chr2:109400267 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.783-6T>C |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000555296]|not specified [RCV000420242] |
Chr2:108740483 [GRCh38]
Chr2:109356939 [GRCh37]
Chr2:2q13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006267.5(RANBP2):c.8600-14G>T |
single nucleotide variant |
not specified [RCV000426800] |
Chr2:108781255 [GRCh38]
Chr2:109397711 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.3411A>C (p.Pro1137=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000554396]|not provided [RCV000859631]|not specified [RCV000437267] |
Chr2:108763950 [GRCh38]
Chr2:109380406 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.238G>A (p.Val80Ile) |
single nucleotide variant |
not provided [RCV000960742]|not specified [RCV000433920] |
Chr2:108730871 [GRCh38]
Chr2:109347327 [GRCh37]
Chr2:2q13 |
benign|likely benign |
| NM_006267.5(RANBP2):c.7849+4A>G |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000529327]|not specified [RCV000437422] |
Chr2:108768392 [GRCh38]
Chr2:109384848 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000557124]|not provided [RCV000442260]|not specified [RCV000486351] |
Chr2:108775846 [GRCh38]
Chr2:109392302 [GRCh37]
Chr2:2q13 |
benign |
| 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 |
| 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.284del (p.Gly95fs) |
deletion |
Autosomal dominant hypohidrotic ectodermal dysplasia [RCV000477893] |
Chr2:108929270 [GRCh38]
Chr2:109545726 [GRCh37]
Chr2:2q13 |
pathogenic |
| NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000477838]|not provided [RCV000513896]|not specified [RCV000483800] |
Chr2:108763765 [GRCh38]
Chr2:109380221 [GRCh37]
Chr2:2q13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| 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_006267.5(RANBP2):c.2977T>G (p.Ser993Ala) |
single nucleotide variant |
not specified [RCV000482620] |
Chr2:108763516 [GRCh38]
Chr2:109379972 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_022336.4(EDAR):c.442+1G>A |
single nucleotide variant |
not provided [RCV000497932] |
Chr2:108923367 [GRCh38]
Chr2:109539823 [GRCh37]
Chr2:2q13 |
pathogenic |
| NM_006267.5(RANBP2):c.2502C>G (p.Asn834Lys) |
single nucleotide variant |
not specified [RCV000498608] |
Chr2:108758448 [GRCh38]
Chr2:109374904 [GRCh37]
Chr2:2q13 |
conflicting interpretations of pathogenicity|uncertain significance |
| 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 |
| NM_006267.5(RANBP2):c.3125G>A (p.Gly1042Asp) |
single nucleotide variant |
not provided [RCV000492843] |
Chr2:108763664 [GRCh38]
Chr2:109380120 [GRCh37]
Chr2:2q13 |
likely pathogenic |
| Single allele |
inversion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3 |
likely pathogenic |
| 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 2q12.3-13(chr2:108534030-110492791)x3 |
copy number gain |
See cases [RCV000510943] |
Chr2:108534030..110492791 [GRCh37]
Chr2:2q12.3-13 |
uncertain significance |
| NM_006267.5(RANBP2):c.1087C>T (p.Arg363Cys) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000555719] |
Chr2:108748943 [GRCh38]
Chr2:109365399 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.6613G>C (p.Gly2205Arg) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000556583] |
Chr2:108767152 [GRCh38]
Chr2:109383608 [GRCh37]
Chr2:2q13 |
likely benign|uncertain significance |
| NM_006267.5(RANBP2):c.561C>T (p.His187=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646023] |
Chr2:108735687 [GRCh38]
Chr2:109352143 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.728T>C (p.Met243Thr) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000534686]|not specified [RCV000602236] |
Chr2:108736195 [GRCh38]
Chr2:109352651 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.8916A>C (p.Leu2972=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000525025] |
Chr2:108782283 [GRCh38]
Chr2:109398739 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2056-4A>T |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000557493] |
Chr2:108753821 [GRCh38]
Chr2:109370277 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.1918-3del |
deletion |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000557535] |
Chr2:108753421 [GRCh38]
Chr2:109369877 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539349] |
Chr2:108763902 [GRCh38]
Chr2:109380358 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.9603G>T (p.Lys3201Asn) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646015] |
Chr2:108783829 [GRCh38]
Chr2:109400285 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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 |
| NM_006267.5(RANBP2):c.7670A>G (p.Asn2557Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646030] |
Chr2:108768209 [GRCh38]
Chr2:109384665 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.2943C>T (p.Phe981=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646031] |
Chr2:108763482 [GRCh38]
Chr2:109379938 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.7474A>G (p.Thr2492Ala) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646020] |
Chr2:108768013 [GRCh38]
Chr2:109384469 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.1776T>C (p.Phe592=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646018] |
Chr2:108753018 [GRCh38]
Chr2:109369474 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.8491A>T (p.Ser2831Cys) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646016] |
Chr2:108775930 [GRCh38]
Chr2:109392386 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.7911A>T (p.Glu2637Asp) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646011] |
Chr2:108771762 [GRCh38]
Chr2:109388218 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.5983G>A (p.Asp1995Asn) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646010] |
Chr2:108766522 [GRCh38]
Chr2:109382978 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.1398T>G (p.His466Gln) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646009] |
Chr2:108751388 [GRCh38]
Chr2:109367844 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.4442G>A (p.Gly1481Glu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646008] |
Chr2:108764981 [GRCh38]
Chr2:109381437 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.967G>C (p.Ala323Pro) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646007] |
Chr2:108740673 [GRCh38]
Chr2:109357129 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.2164A>T (p.Ile722Leu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646003] |
Chr2:108753933 [GRCh38]
Chr2:109370389 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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_006267.5(RANBP2):c.1632-10_1632-1delinsAATTTTTAT |
indel |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000559030] |
Chr2:108751861..108751870 [GRCh38]
Chr2:109368317..109368326 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3035G>T (p.Gly1012Val) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000536673] |
Chr2:108763574 [GRCh38]
Chr2:109380030 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.7805C>T (p.Thr2602Met) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000540574] |
Chr2:108768344 [GRCh38]
Chr2:109384800 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.5394C>T (p.Ser1798=) |
single nucleotide variant |
not specified [RCV000606225] |
Chr2:108765933 [GRCh38]
Chr2:109382389 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.5307G>A (p.Lys1769=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000556266]|not specified [RCV000602379] |
Chr2:108765846 [GRCh38]
Chr2:109382302 [GRCh37]
Chr2:2q13 |
benign|likely benign |
| Single allele |
duplication |
Neuronopathy, distal hereditary motor, type viia [RCV000534213] |
Chr2:107988136..108963283 [GRCh38]
Chr2:2q12.3-13 |
uncertain significance |
| NM_006267.5(RANBP2):c.7751A>G (p.Asp2584Gly) |
single nucleotide variant |
not provided [RCV000514609] |
Chr2:108768290 [GRCh38]
Chr2:109384746 [GRCh37]
Chr2:2q13 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006267.5(RANBP2):c.3582C>A (p.Phe1194Leu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000553897] |
Chr2:108764121 [GRCh38]
Chr2:109380577 [GRCh37]
Chr2:2q13 |
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_006267.5(RANBP2):c.9369+20T>C |
single nucleotide variant |
not specified [RCV000607756] |
Chr2:108782882 [GRCh38]
Chr2:109399338 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.8075G>A (p.Gly2692Asp) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000533410] |
Chr2:108772543 [GRCh38]
Chr2:109388999 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.3162_3163delinsTT (p.Gln1054_Pro1055delinsHisSer) |
indel |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000541006] |
Chr2:108763701..108763702 [GRCh38]
Chr2:109380157..109380158 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.4726A>T (p.Thr1576Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000560329]|not specified [RCV000616977] |
Chr2:108765265 [GRCh38]
Chr2:109381721 [GRCh37]
Chr2:2q13 |
benign|likely benign |
| NM_006267.5(RANBP2):c.7463T>C (p.Val2488Ala) |
single nucleotide variant |
not provided [RCV000890560]|not specified [RCV000607627] |
Chr2:108768002 [GRCh38]
Chr2:109384458 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.7850-15dup |
duplication |
not specified [RCV000608297] |
Chr2:108771679..108771680 [GRCh38]
Chr2:109388135..109388136 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.6461C>G (p.Pro2154Arg) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000557647] |
Chr2:108767000 [GRCh38]
Chr2:109383456 [GRCh37]
Chr2:2q13 |
likely benign|uncertain significance |
| NM_006267.5(RANBP2):c.1920A>G (p.Ala640=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535989]|not specified [RCV000609540] |
Chr2:108753428 [GRCh38]
Chr2:109369884 [GRCh37]
Chr2:2q13 |
benign|likely benign |
| NM_006267.5(RANBP2):c.8253= (p.Glu2751=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000536483] |
Chr2:108773007 [GRCh38]
Chr2:109389463 [GRCh37]
Chr2:2q13 |
benign |
| 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 |
| NM_006267.5(RANBP2):c.3501T>C (p.Asp1167=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539136] |
Chr2:108764040 [GRCh38]
Chr2:109380496 [GRCh37]
Chr2:2q13 |
benign |
| NM_022336.4(EDAR):c.529+1G>A |
single nucleotide variant |
Ectodermal dysplasia [RCV000613299] |
Chr2:108912677 [GRCh38]
Chr2:109529133 [GRCh37]
Chr2:2q13 |
pathogenic |
| NM_006267.5(RANBP2):c.8188A>C (p.Lys2730Gln) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000655954] |
Chr2:108772942 [GRCh38]
Chr2:109389398 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.4239A>G (p.Pro1413=) |
single nucleotide variant |
not specified [RCV000601379] |
Chr2:108764778 [GRCh38]
Chr2:109381234 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.4317G>C (p.Gln1439His) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645995] |
Chr2:108764856 [GRCh38]
Chr2:109381312 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.1270G>A (p.Val424Ile) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645996] |
Chr2:108749126 [GRCh38]
Chr2:109365582 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.2904G>C (p.Gln968His) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645997] |
Chr2:108763443 [GRCh38]
Chr2:109379899 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.2894A>G (p.Asn965Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645998] |
Chr2:108763433 [GRCh38]
Chr2:109379889 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.7697G>A (p.Ser2566Asn) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645999] |
Chr2:108768236 [GRCh38]
Chr2:109384692 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.2129A>C (p.Tyr710Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646000] |
Chr2:108753898 [GRCh38]
Chr2:109370354 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.6342T>C (p.Asp2114=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646025] |
Chr2:108766881 [GRCh38]
Chr2:109383337 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.8671G>A (p.Gly2891Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646026] |
Chr2:108781340 [GRCh38]
Chr2:109397796 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.2405G>A (p.Arg802Gln) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646027] |
Chr2:108755198 [GRCh38]
Chr2:109371654 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.4752T>C (p.Phe1584=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646028] |
Chr2:108765291 [GRCh38]
Chr2:109381747 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.3351G>A (p.Ser1117=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646029] |
Chr2:108763890 [GRCh38]
Chr2:109380346 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.7602A>G (p.Ala2534=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646022] |
Chr2:108768141 [GRCh38]
Chr2:109384597 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.4707G>A (p.Pro1569=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646021] |
Chr2:108765246 [GRCh38]
Chr2:109381702 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.5979C>T (p.Ser1993=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646019] |
Chr2:108766518 [GRCh38]
Chr2:109382974 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.526C>T (p.Arg176Cys) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646017] |
Chr2:108735652 [GRCh38]
Chr2:109352108 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.8621A>G (p.Asn2874Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646014] |
Chr2:108781290 [GRCh38]
Chr2:109397746 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.1787G>A (p.Arg596Gln) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646013] |
Chr2:108753029 [GRCh38]
Chr2:109369485 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.2147A>G (p.Asp716Gly) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646012] |
Chr2:108753916 [GRCh38]
Chr2:109370372 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.1478A>C (p.Tyr493Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646006] |
Chr2:108751550 [GRCh38]
Chr2:109368006 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3860C>T (p.Thr1287Ile) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646005] |
Chr2:108764399 [GRCh38]
Chr2:109380855 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.715T>A (p.Tyr239Asn) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646002] |
Chr2:108736182 [GRCh38]
Chr2:109352638 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.2603-3T>C |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646001] |
Chr2:108762098 [GRCh38]
Chr2:109378554 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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 |
| Single allele |
duplication |
not provided [RCV000678012] |
Chr2:107096423..112235727 [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_006267.5(RANBP2):c.1918-1G>A |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000685431] |
Chr2:108753425 [GRCh38]
Chr2:109369881 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.6272C>T (p.Thr2091Ile) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000685444] |
Chr2:108766811 [GRCh38]
Chr2:109383267 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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_006267.5(RANBP2):c.8411G>T (p.Ser2804Ile) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000707252] |
Chr2:108775850 [GRCh38]
Chr2:109392306 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.6844G>T (p.Ala2282Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000694990] |
Chr2:108767383 [GRCh38]
Chr2:109383839 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.4139C>G (p.Pro1380Arg) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000702073] |
Chr2:108764678 [GRCh38]
Chr2:109381134 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.7933A>C (p.Lys2645Gln) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000707380] |
Chr2:108771784 [GRCh38]
Chr2:109388240 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.2469A>G (p.Lys823=) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000707390] |
Chr2:108758415 [GRCh38]
Chr2:109374871 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.1216A>G (p.Ile406Val) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000691111] |
Chr2:108749072 [GRCh38]
Chr2:109365528 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.8729T>C (p.Ile2910Thr) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000693812] |
Chr2:108781398 [GRCh38]
Chr2:109397854 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.1252G>T (p.Asp418Tyr) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000691214] |
Chr2:108749108 [GRCh38]
Chr2:109365564 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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 |
| NM_006267.5(RANBP2):c.4177A>G (p.Thr1393Ala) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000685130] |
Chr2:108764716 [GRCh38]
Chr2:109381172 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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 |
| NM_006267.5(RANBP2):c.873G>A (p.Met291Ile) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000692579] |
Chr2:108740579 [GRCh38]
Chr2:109357035 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3129C>G (p.Asp1043Glu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000689722] |
Chr2:108763668 [GRCh38]
Chr2:109380124 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.5929A>G (p.Lys1977Glu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000697531] |
Chr2:108766468 [GRCh38]
Chr2:109382924 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3376C>T (p.Arg1126Trp) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000701823] |
Chr2:108763915 [GRCh38]
Chr2:109380371 [GRCh37]
Chr2:2q13 |
likely benign|uncertain significance |
| NM_006267.5(RANBP2):c.2188T>G (p.Ser730Ala) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000703979] |
Chr2:108753957 [GRCh38]
Chr2:109370413 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.2369G>A (p.Ser790Asn) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000692764] |
Chr2:108755071 [GRCh38]
Chr2:109371527 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.6431G>A (p.Arg2144Gln) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000706958] |
Chr2:108766970 [GRCh38]
Chr2:109383426 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.4042G>A (p.Val1348Ile) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000693206] |
Chr2:108764581 [GRCh38]
Chr2:109381037 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.8484T>A (p.Asp2828Glu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000693324] |
Chr2:108775923 [GRCh38]
Chr2:109392379 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.929G>A (p.Arg310Gln) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000702692] |
Chr2:108740635 [GRCh38]
Chr2:109357091 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3010A>G (p.Thr1004Ala) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000704892] |
Chr2:108763549 [GRCh38]
Chr2:109380005 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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 |
| NM_006267.5(RANBP2):c.9253T>C (p.Phe3085Leu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000696731] |
Chr2:108782746 [GRCh38]
Chr2:109399202 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.9035A>C (p.Asp3012Ala) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000697015] |
Chr2:108782528 [GRCh38]
Chr2:109398984 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.9215C>T (p.Ala3072Val) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000703691] |
Chr2:108782708 [GRCh38]
Chr2:109399164 [GRCh37]
Chr2:2q13 |
uncertain significance |
| GRCh37/hg19 2q12.3(chr2:109392302-109492622)x3 |
copy number gain |
not provided [RCV000753078] |
Chr2:109392302..109492622 [GRCh37]
Chr2:2q12.3 |
benign |
| 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 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| 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_006267.5(RANBP2):c.5950G>A (p.Gly1984Ser) |
single nucleotide variant |
not provided [RCV000916090] |
Chr2:108766489 [GRCh38]
Chr2:109382945 [GRCh37]
Chr2:2q13 |
likely 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_006267.5(RANBP2):c.5367T>G (p.Val1789=) |
single nucleotide variant |
not provided [RCV000973849] |
Chr2:108765906 [GRCh38]
Chr2:109382362 [GRCh37]
Chr2:2q13 |
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_006267.5(RANBP2):c.4161C>T (p.Gly1387=) |
single nucleotide variant |
not provided [RCV000921516] |
Chr2:108764700 [GRCh38]
Chr2:109381156 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.1770T>C (p.Asn590=) |
single nucleotide variant |
not provided [RCV000944926] |
Chr2:108753012 [GRCh38]
Chr2:109369468 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.8589T>C (p.Phe2863=) |
single nucleotide variant |
not provided [RCV000906125] |
Chr2:108777221 [GRCh38]
Chr2:109393677 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.4534G>T (p.Ala1512Ser) |
single nucleotide variant |
not provided [RCV000972868] |
Chr2:108765073 [GRCh38]
Chr2:109381529 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.7464A>G (p.Val2488=) |
single nucleotide variant |
not provided [RCV000958400] |
Chr2:108768003 [GRCh38]
Chr2:109384459 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.6680A>G (p.Tyr2227Cys) |
single nucleotide variant |
not provided [RCV000950573] |
Chr2:108767219 [GRCh38]
Chr2:109383675 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.468A>G (p.Ser156=) |
single nucleotide variant |
not provided [RCV000943359] |
Chr2:108735594 [GRCh38]
Chr2:109352050 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.9369+8T>C |
single nucleotide variant |
not provided [RCV000945538] |
Chr2:108782870 [GRCh38]
Chr2:109399326 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.288T>G (p.Leu96=) |
single nucleotide variant |
not provided [RCV000902827] |
Chr2:108731357 [GRCh38]
Chr2:109347813 [GRCh37]
Chr2:2q13 |
likely benign |
| 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_006267.5(RANBP2):c.8761-4A>G |
single nucleotide variant |
not provided [RCV000950892] |
Chr2:108782124 [GRCh38]
Chr2:109398580 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.1361G>A (p.Arg454Gln) |
single nucleotide variant |
not provided [RCV000880561] |
Chr2:108751351 [GRCh38]
Chr2:109367807 [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_006267.5(RANBP2):c.2212C>T (p.Pro738Ser) |
single nucleotide variant |
not provided [RCV000878448] |
Chr2:108754914 [GRCh38]
Chr2:109371370 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.3350C>T (p.Ser1117Leu) |
single nucleotide variant |
not provided [RCV000878356] |
Chr2:108763889 [GRCh38]
Chr2:109380345 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.4791C>T (p.Ser1597=) |
single nucleotide variant |
not provided [RCV000950314] |
Chr2:108765330 [GRCh38]
Chr2:109381786 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2268T>C (p.Tyr756=) |
single nucleotide variant |
not provided [RCV000903262] |
Chr2:108754970 [GRCh38]
Chr2:109371426 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.834G>A (p.Leu278=) |
single nucleotide variant |
not provided [RCV000882250] |
Chr2:108740540 [GRCh38]
Chr2:109356996 [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 |
| NM_006267.5(RANBP2):c.5210A>G (p.Asn1737Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000792717] |
Chr2:108765749 [GRCh38]
Chr2:109382205 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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_006267.5(RANBP2):c.8497+8_8497+10del |
deletion |
not provided [RCV000978783] |
Chr2:108775944..108775946 [GRCh38]
Chr2:109392400..109392402 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.342A>T (p.Ala114=) |
single nucleotide variant |
not provided [RCV000969816] |
Chr2:108731411 [GRCh38]
Chr2:109347867 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.6612C>T (p.Ala2204=) |
single nucleotide variant |
not provided [RCV000933069] |
Chr2:108767151 [GRCh38]
Chr2:109383607 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.7863A>G (p.Lys2621=) |
single nucleotide variant |
not provided [RCV000942865] |
Chr2:108771714 [GRCh38]
Chr2:109388170 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.1108A>G (p.Lys370Glu) |
single nucleotide variant |
not provided [RCV000945998] |
Chr2:108748964 [GRCh38]
Chr2:109365420 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.6792A>C (p.Thr2264=) |
single nucleotide variant |
not provided [RCV000907177] |
Chr2:108767331 [GRCh38]
Chr2:109383787 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.6270G>A (p.Thr2090=) |
single nucleotide variant |
not provided [RCV000945761] |
Chr2:108766809 [GRCh38]
Chr2:109383265 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.9243T>C (p.Thr3081=) |
single nucleotide variant |
not provided [RCV000940670] |
Chr2:108782736 [GRCh38]
Chr2:109399192 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.8859C>T (p.Arg2953=) |
single nucleotide variant |
not provided [RCV000960761] |
Chr2:108782226 [GRCh38]
Chr2:109398682 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.6312A>G (p.Ala2104=) |
single nucleotide variant |
not provided [RCV000942647] |
Chr2:108766851 [GRCh38]
Chr2:109383307 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.7827C>T (p.Tyr2609=) |
single nucleotide variant |
not provided [RCV000895934] |
Chr2:108768366 [GRCh38]
Chr2:109384822 [GRCh37]
Chr2:2q13 |
likely benign |
| 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_006267.5(RANBP2):c.2230G>C (p.Glu744Gln) |
single nucleotide variant |
not provided [RCV000946104] |
Chr2:108754932 [GRCh38]
Chr2:109371388 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2340G>A (p.Pro780=) |
single nucleotide variant |
not provided [RCV000951644] |
Chr2:108755042 [GRCh38]
Chr2:109371498 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2148C>T (p.Asp716=) |
single nucleotide variant |
not provided [RCV000932213] |
Chr2:108753917 [GRCh38]
Chr2:109370373 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.6663A>G (p.Thr2221=) |
single nucleotide variant |
not provided [RCV000945382] |
Chr2:108767202 [GRCh38]
Chr2:109383658 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.6857A>G (p.Gln2286Arg) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000804380] |
Chr2:108767396 [GRCh38]
Chr2:109383852 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.5040C>T (p.Ala1680=) |
single nucleotide variant |
not provided [RCV000916089] |
Chr2:108765579 [GRCh38]
Chr2:109382035 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.8125G>A (p.Glu2709Lys) |
single nucleotide variant |
not provided [RCV000960430] |
Chr2:108772879 [GRCh38]
Chr2:109389335 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.-50C>T |
single nucleotide variant |
not provided [RCV000830857] |
Chr2:108719557 [GRCh38]
Chr2:109336013 [GRCh37]
Chr2:2q13 |
likely 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_006267.5(RANBP2):c.20A>C (p.Asp7Ala) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000793251] |
Chr2:108719626 [GRCh38]
Chr2:109336082 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.4216G>A (p.Asp1406Asn) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817400] |
Chr2:108764755 [GRCh38]
Chr2:109381211 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3162G>T (p.Gln1054His) |
single nucleotide variant |
not provided [RCV000960107] |
Chr2:108763701 [GRCh38]
Chr2:109380157 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.7844A>G (p.Glu2615Gly) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817712] |
Chr2:108768383 [GRCh38]
Chr2:109384839 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.7513C>A (p.Pro2505Thr) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000804895] |
Chr2:108768052 [GRCh38]
Chr2:109384508 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.5356G>T (p.Asp1786Tyr) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000804952] |
Chr2:108765895 [GRCh38]
Chr2:109382351 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.771A>T (p.Glu257Asp) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000795329] |
Chr2:108736238 [GRCh38]
Chr2:109352694 [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_006267.5(RANBP2):c.9292G>T (p.Ala3098Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000800269] |
Chr2:108782785 [GRCh38]
Chr2:109399241 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.7617A>T (p.Ser2539=) |
single nucleotide variant |
not provided [RCV000836806] |
Chr2:108768156 [GRCh38]
Chr2:109384612 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2995A>G (p.Ile999Val) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000791886] |
Chr2:108763534 [GRCh38]
Chr2:109379990 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.1957A>G (p.Thr653Ala) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000805729] |
Chr2:108753465 [GRCh38]
Chr2:109369921 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.520G>T (p.Val174Leu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000815409] |
Chr2:108735646 [GRCh38]
Chr2:109352102 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.1043G>T (p.Cys348Phe) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000804150] |
Chr2:108746778 [GRCh38]
Chr2:109363234 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.4976A>G (p.Glu1659Gly) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817201] |
Chr2:108765515 [GRCh38]
Chr2:109381971 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3387T>G (p.Asp1129Glu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000799311] |
Chr2:108763926 [GRCh38]
Chr2:109380382 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.5996A>T (p.Asp1999Val) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000796232] |
Chr2:108766535 [GRCh38]
Chr2:109382991 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.297G>T (p.Lys99Asn) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000816203] |
Chr2:108731366 [GRCh38]
Chr2:109347822 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3380G>A (p.Arg1127Gln) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000822768] |
Chr2:108763919 [GRCh38]
Chr2:109380375 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.9220G>A (p.Gly3074Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000800155] |
Chr2:108782713 [GRCh38]
Chr2:109399169 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.3469G>C (p.Asp1157His) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817087] |
Chr2:108764008 [GRCh38]
Chr2:109380464 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.4514C>T (p.Pro1505Leu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817240] |
Chr2:108765053 [GRCh38]
Chr2:109381509 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.5189G>A (p.Cys1730Tyr) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000823404] |
Chr2:108765728 [GRCh38]
Chr2:109382184 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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_006267.5(RANBP2):c.3273A>T (p.Gln1091His) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000824491] |
Chr2:108763812 [GRCh38]
Chr2:109380268 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.73A>G (p.Lys25Glu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000805597] |
Chr2:108729132 [GRCh38]
Chr2:109345588 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.4332T>C (p.Ala1444=) |
single nucleotide variant |
not provided [RCV000997189] |
Chr2:108764871 [GRCh38]
Chr2:109381327 [GRCh37]
Chr2:2q13 |
likely 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 |
| NM_006267.5(RANBP2):c.2314G>C (p.Asp772His) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000812232] |
Chr2:108755016 [GRCh38]
Chr2:109371472 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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_006267.5(RANBP2):c.4508A>T (p.Gln1503Leu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000809133] |
Chr2:108765047 [GRCh38]
Chr2:109381503 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.702C>G (p.Asp234Glu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000794786] |
Chr2:108736169 [GRCh38]
Chr2:109352625 [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_006267.5(RANBP2):c.1283G>A (p.Arg428Gln) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000814675] |
Chr2:108751273 [GRCh38]
Chr2:109367729 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.5323T>C (p.Phe1775Leu) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000802327] |
Chr2:108765862 [GRCh38]
Chr2:109382318 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.6592G>T (p.Gly2198Cys) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000802465] |
Chr2:108767131 [GRCh38]
Chr2:109383587 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.6116G>A (p.Arg2039Gln) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000822231] |
Chr2:108766655 [GRCh38]
Chr2:109383111 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.5871A>G (p.Glu1957=) |
single nucleotide variant |
not provided [RCV000939027] |
Chr2:108766410 [GRCh38]
Chr2:109382866 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.6881A>T (p.Asp2294Val) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000813056] |
Chr2:108767420 [GRCh38]
Chr2:109383876 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.6988C>A (p.Gln2330Lys) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000802556] |
Chr2:108767527 [GRCh38]
Chr2:109383983 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.7690G>T (p.Ala2564Ser) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000794332] |
Chr2:108768229 [GRCh38]
Chr2:109384685 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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_006267.5(RANBP2):c.3163C>T (p.Pro1055Ser) |
single nucleotide variant |
not provided [RCV000960108] |
Chr2:108763702 [GRCh38]
Chr2:109380158 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.1601C>T (p.Ala534Val) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000813584] |
Chr2:108751673 [GRCh38]
Chr2:109368129 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.467C>G (p.Ser156Ter) |
single nucleotide variant |
Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000813897] |
Chr2:108735593 [GRCh38]
Chr2:109352049 [GRCh37]
Chr2:2q13 |
uncertain significance |
| 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_006267.5(RANBP2):c.2296G>C (p.Gly766Arg) |
single nucleotide variant |
not provided [RCV000997188] |
Chr2:108754998 [GRCh38]
Chr2:109371454 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.2275G>A (p.Gly759Arg) |
single nucleotide variant |
not provided [RCV000997187] |
Chr2:108754977 [GRCh38]
Chr2:109371433 [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_006267.5(RANBP2):c.3060A>G (p.Pro1020=) |
single nucleotide variant |
not provided [RCV000978150] |
Chr2:108763599 [GRCh38]
Chr2:109380055 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2203-8A>G |
single nucleotide variant |
not provided [RCV000936605] |
Chr2:108754897 [GRCh38]
Chr2:109371353 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.3955G>C (p.Ala1319Pro) |
single nucleotide variant |
not provided [RCV000952191] |
Chr2:108764494 [GRCh38]
Chr2:109380950 [GRCh37]
Chr2:2q13 |
benign |
| NM_006267.5(RANBP2):c.6098A>G (p.Lys2033Arg) |
single nucleotide variant |
not provided [RCV000983806] |
Chr2:108766637 [GRCh38]
Chr2:109383093 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.4207A>G (p.Asn1403Asp) |
single nucleotide variant |
not provided [RCV000900467] |
Chr2:108764746 [GRCh38]
Chr2:109381202 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2862A>G (p.Leu954=) |
single nucleotide variant |
not provided [RCV000929751] |
Chr2:108763401 [GRCh38]
Chr2:109379857 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.5825G>T (p.Ser1942Ile) |
single nucleotide variant |
not provided [RCV000952355] |
Chr2:108766364 [GRCh38]
Chr2:109382820 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.324T>C (p.Asp108=) |
single nucleotide variant |
not provided [RCV000954656] |
Chr2:108731393 [GRCh38]
Chr2:109347849 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2244A>G (p.Ser748=) |
single nucleotide variant |
not provided [RCV000976121] |
Chr2:108754946 [GRCh38]
Chr2:109371402 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.7039G>C (p.Gly2347Arg) |
single nucleotide variant |
not provided [RCV000946112] |
Chr2:108767578 [GRCh38]
Chr2:109384034 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.7293G>T (p.Ser2431=) |
single nucleotide variant |
not provided [RCV000946154] |
Chr2:108767832 [GRCh38]
Chr2:109384288 [GRCh37]
Chr2:2q13 |
likely 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_006267.5(RANBP2):c.8021-7T>C |
single nucleotide variant |
not provided [RCV000982917] |
Chr2:108772482 [GRCh38]
Chr2:109388938 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.6120A>G (p.Val2040=) |
single nucleotide variant |
not provided [RCV000960777] |
Chr2:108766659 [GRCh38]
Chr2:109383115 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.2379C>T (p.Tyr793=) |
single nucleotide variant |
not provided [RCV000981549] |
Chr2:108755081 [GRCh38]
Chr2:109371537 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.8385A>G (p.Glu2795=) |
single nucleotide variant |
not provided [RCV000920558] |
Chr2:108775824 [GRCh38]
Chr2:109392280 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.951A>G (p.Ala317=) |
single nucleotide variant |
not provided [RCV000895933] |
Chr2:108740657 [GRCh38]
Chr2:109357113 [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_006267.5(RANBP2):c.1225A>G (p.Ile409Val) |
single nucleotide variant |
not provided [RCV000895327] |
Chr2:108749081 [GRCh38]
Chr2:109365537 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.9408G>A (p.Gln3136=) |
single nucleotide variant |
not provided [RCV000981844] |
Chr2:108783634 [GRCh38]
Chr2:109400090 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.8415A>G (p.Ser2805=) |
single nucleotide variant |
not provided [RCV000935685] |
Chr2:108775854 [GRCh38]
Chr2:109392310 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.5093C>T (p.Thr1698Ile) |
single nucleotide variant |
not provided [RCV000997190] |
Chr2:108765632 [GRCh38]
Chr2:109382088 [GRCh37]
Chr2:2q13 |
uncertain significance |
| NM_006267.5(RANBP2):c.8262A>G (p.Gln2754=) |
single nucleotide variant |
not provided [RCV000913693] |
Chr2:108773016 [GRCh38]
Chr2:109389472 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.8700T>C (p.Ser2900=) |
single nucleotide variant |
not provided [RCV000934734] |
Chr2:108781369 [GRCh38]
Chr2:109397825 [GRCh37]
Chr2:2q13 |
likely benign |
| NM_006267.5(RANBP2):c.8020+7C>T |
single nucleotide variant |
not provided [RCV000935220] |
Chr2:108771878 [GRCh38]
Chr2:109388334 [GRCh37]
Chr2:2q13 |
likely benign |
Gene-Chemical Interaction Annotations
