| NM_138775.3(ALKBH8):c.1288-3C>T |
single nucleotide variant |
ALKBH8-related condition [RCV003966178]|Intellectual developmental disorder, autosomal recessive 71 [RCV001549114] |
Chr11:107511039 [GRCh38]
Chr11:107381765 [GRCh37]
Chr11:11q22.3 |
benign |
| NM_138775.3(ALKBH8):c.1030+9A>G |
single nucleotide variant |
ALKBH8-related condition [RCV003980683]|Intellectual developmental disorder, autosomal recessive 71 [RCV001549115] |
Chr11:107525432 [GRCh38]
Chr11:107396158 [GRCh37]
Chr11:11q22.3 |
benign |
| GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 |
copy number gain |
See cases [RCV000053638] |
Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25 |
pathogenic |
| NM_138775.2(ALKBH8):c.1437+2179A>G |
single nucleotide variant |
Lung cancer [RCV000109578] |
Chr11:107508708 [GRCh38]
Chr11:107379434 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| GRCh38/hg38 11q22.3(chr11:107479091-108222532)x1 |
copy number loss |
See cases [RCV000136500] |
Chr11:107479091..108222532 [GRCh38]
Chr11:107349817..108093259 [GRCh37]
Chr11:106855027..107598469 [NCBI36]
Chr11:11q22.3 |
pathogenic |
| GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 |
copy number loss |
See cases [RCV000138038] |
Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3 |
pathogenic |
| GRCh37/hg19 11q22.3(chr11:106959465-107537265)x1 |
copy number loss |
See cases [RCV000239992] |
Chr11:106959465..107537265 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 |
copy number loss |
See cases [RCV000510457] |
Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3 |
pathogenic |
| GRCh37/hg19 11q22.3(chr11:106767102-107561488)x3 |
copy number gain |
See cases [RCV000511621] |
Chr11:106767102..107561488 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| NM_138775.3(ALKBH8):c.443A>G (p.Glu148Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003256997] |
Chr11:107553903 [GRCh38]
Chr11:107424629 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 |
copy number gain |
not provided [RCV000683374] |
Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 |
copy number loss |
not provided [RCV000737595] |
Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2 |
pathogenic |
| NM_138775.3(ALKBH8):c.313G>C (p.Val105Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003246137] |
Chr11:107556820 [GRCh38]
Chr11:107427546 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.1820C>G (p.Pro607Arg) |
single nucleotide variant |
Intellectual developmental disorder, autosomal recessive 71 [RCV002501496]|not provided [RCV000895282] |
Chr11:107504833 [GRCh38]
Chr11:107375559 [GRCh37]
Chr11:11q22.3 |
benign|likely benign |
| NM_138775.3(ALKBH8):c.1400G>C (p.Cys467Ser) |
single nucleotide variant |
ALKBH8-related condition [RCV003968341]|not provided [RCV000907417] |
Chr11:107510924 [GRCh38]
Chr11:107381650 [GRCh37]
Chr11:11q22.3 |
benign |
| GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1 |
copy number loss |
not provided [RCV000848741] |
Chr11:104101411..116680918 [GRCh37]
Chr11:11q22.3-23.3 |
pathogenic |
| NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter) |
single nucleotide variant |
Intellectual developmental disorder, autosomal recessive 71 [RCV000788045]|not provided [RCV001759480] |
Chr11:107505002 [GRCh38]
Chr11:107375728 [GRCh37]
Chr11:11q22.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_138775.3(ALKBH8):c.1785del (p.Trp596fs) |
deletion |
Intellectual developmental disorder, autosomal recessive 71 [RCV000788046] |
Chr11:107504868 [GRCh38]
Chr11:107375594 [GRCh37]
Chr11:11q22.3 |
pathogenic |
| GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1 |
copy number loss |
not provided [RCV001006439] |
Chr11:103320065..114349787 [GRCh37]
Chr11:11q22.3-23.2 |
pathogenic |
| NM_138775.3(ALKBH8):c.772-72_772-71del |
microsatellite |
Intellectual developmental disorder, autosomal recessive 71 [RCV001549009] |
Chr11:107532477..107532478 [GRCh38]
Chr11:107403203..107403204 [GRCh37]
Chr11:11q22.3 |
benign |
| NM_138775.3(ALKBH8):c.720T>C (p.Asp240=) |
single nucleotide variant |
ALKBH8-related condition [RCV003983974]|Intellectual developmental disorder, autosomal recessive 71 [RCV001549010] |
Chr11:107549804 [GRCh38]
Chr11:107420530 [GRCh37]
Chr11:11q22.3 |
benign |
| NM_138775.3(ALKBH8):c.878+31T>A |
single nucleotide variant |
Intellectual developmental disorder, autosomal recessive 71 [RCV001549116] |
Chr11:107532269 [GRCh38]
Chr11:107402995 [GRCh37]
Chr11:11q22.3 |
benign |
| NM_138775.3(ALKBH8):c.1709C>T (p.Ser570Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003274629] |
Chr11:107504944 [GRCh38]
Chr11:107375670 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1 |
copy number loss |
not provided [RCV001006445] |
Chr11:105699599..114524876 [GRCh37]
Chr11:11q22.3-23.3 |
pathogenic |
| Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3 |
pathogenic |
| NM_138775.3(ALKBH8):c.960_964del (p.Leu320fs) |
deletion |
not provided [RCV001311272] |
Chr11:107525507..107525511 [GRCh38]
Chr11:107396233..107396237 [GRCh37]
Chr11:11q22.3 |
likely pathogenic |
| NC_000011.9:g.(?_94153285)_(111965700_?)del |
deletion |
Ataxia-telangiectasia syndrome [RCV001389105] |
Chr11:94153285..111965700 [GRCh37]
Chr11:11q21-23.1 |
pathogenic |
| NM_138775.3(ALKBH8):c.1442G>A (p.Arg481His) |
single nucleotide variant |
Inborn genetic diseases [RCV002555507]|Intellectual developmental disorder, autosomal recessive 71 [RCV001420605] |
Chr11:107505211 [GRCh38]
Chr11:107375937 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.318G>A (p.Val106=) |
single nucleotide variant |
not provided [RCV001726856] |
Chr11:107556815 [GRCh38]
Chr11:107427541 [GRCh37]
Chr11:11q22.3 |
likely benign |
| NC_000011.9:g.104288964_134937416dup |
duplication |
Distal trisomy 11q [RCV001250234] |
Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25 |
pathogenic |
| NM_138775.3(ALKBH8):c.1105C>T (p.Arg369Trp) |
single nucleotide variant |
Intellectual developmental disorder, autosomal recessive 71 [RCV001784139] |
Chr11:107522481 [GRCh38]
Chr11:107393207 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro) |
deletion |
Intellectual developmental disorder, autosomal recessive 71 [RCV001775319] |
Chr11:107510895..107510903 [GRCh38]
Chr11:107381621..107381629 [GRCh37]
Chr11:11q22.3 |
likely pathogenic |
| NM_138775.3(ALKBH8):c.1960C>T (p.Gln654Ter) |
single nucleotide variant |
not provided [RCV001769405] |
Chr11:107504693 [GRCh38]
Chr11:107375419 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 |
copy number loss |
not provided [RCV001832892] |
Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.804T>C (p.Ile268=) |
single nucleotide variant |
not provided [RCV002211200] |
Chr11:107532374 [GRCh38]
Chr11:107403100 [GRCh37]
Chr11:11q22.3 |
likely benign |
| NM_138775.3(ALKBH8):c.769G>C (p.Glu257Gln) |
single nucleotide variant |
not provided [RCV002211201] |
Chr11:107549755 [GRCh38]
Chr11:107420481 [GRCh37]
Chr11:11q22.3 |
likely benign |
| NM_138775.3(ALKBH8):c.844A>T (p.Met282Leu) |
single nucleotide variant |
Intellectual developmental disorder, autosomal recessive 71 [RCV002077358] |
Chr11:107532334 [GRCh38]
Chr11:107403060 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.367+1G>T |
single nucleotide variant |
See cases [RCV002252900] |
Chr11:107556765 [GRCh38]
Chr11:107427491 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.1420C>A (p.His474Asn) |
single nucleotide variant |
ALKBH8-related condition [RCV003916444]|not provided [RCV002292841] |
Chr11:107510904 [GRCh38]
Chr11:107381630 [GRCh37]
Chr11:11q22.3 |
likely benign |
| NM_138775.3(ALKBH8):c.830G>A (p.Arg277Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003164414]|not provided [RCV002281276] |
Chr11:107532348 [GRCh38]
Chr11:107403074 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.1675del (p.Arg559fs) |
deletion |
Intellectual developmental disorder, autosomal recessive 71 [RCV002291263] |
Chr11:107504978 [GRCh38]
Chr11:107375704 [GRCh37]
Chr11:11q22.3 |
pathogenic |
| GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25 |
pathogenic |
| NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter) |
single nucleotide variant |
Intellectual developmental disorder, autosomal recessive 71 [RCV003148510] |
Chr11:107525489 [GRCh38]
Chr11:107396215 [GRCh37]
Chr11:11q22.3 |
likely pathogenic |
| GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1 |
copy number loss |
not provided [RCV002472494] |
Chr11:101371503..109306519 [GRCh37]
Chr11:11q22.1-22.3 |
pathogenic |
| NM_138775.3(ALKBH8):c.1966A>C (p.Asn656His) |
single nucleotide variant |
not provided [RCV002300880] |
Chr11:107504687 [GRCh38]
Chr11:107375413 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.997T>C (p.Phe333Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002841581] |
Chr11:107525474 [GRCh38]
Chr11:107396200 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.103A>G (p.Ile35Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002734156] |
Chr11:107560791 [GRCh38]
Chr11:107431517 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.1078T>C (p.Phe360Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002864463] |
Chr11:107522508 [GRCh38]
Chr11:107393234 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.312A>T (p.Glu104Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002849022] |
Chr11:107556821 [GRCh38]
Chr11:107427547 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.215A>G (p.Asp72Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002693962] |
Chr11:107556918 [GRCh38]
Chr11:107427644 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.819G>A (p.Met273Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002952303] |
Chr11:107532359 [GRCh38]
Chr11:107403085 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.212T>A (p.Val71Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002767000] |
Chr11:107556921 [GRCh38]
Chr11:107427647 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.937A>G (p.Ile313Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002789187] |
Chr11:107525534 [GRCh38]
Chr11:107396260 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.259T>C (p.Tyr87His) |
single nucleotide variant |
Inborn genetic diseases [RCV002640773]|not provided [RCV003229106] |
Chr11:107556874 [GRCh38]
Chr11:107427600 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.722C>T (p.Thr241Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002892296] |
Chr11:107549802 [GRCh38]
Chr11:107420528 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.337A>T (p.Ile113Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002804689] |
Chr11:107556796 [GRCh38]
Chr11:107427522 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.1379G>A (p.Arg460His) |
single nucleotide variant |
Inborn genetic diseases [RCV002930505] |
Chr11:107510945 [GRCh38]
Chr11:107381671 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.164G>A (p.Gly55Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002900807] |
Chr11:107556969 [GRCh38]
Chr11:107427695 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.1100C>A (p.Ala367Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002935212]|not provided [RCV003387547] |
Chr11:107522486 [GRCh38]
Chr11:107393212 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.497A>C (p.Asn166Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002673748] |
Chr11:107553849 [GRCh38]
Chr11:107424575 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.1552C>T (p.Leu518Phe) |
single nucleotide variant |
ALKBH8-related condition [RCV003926759]|Inborn genetic diseases [RCV002656430] |
Chr11:107505101 [GRCh38]
Chr11:107375827 [GRCh37]
Chr11:11q22.3 |
likely benign|uncertain significance |
| NM_138775.3(ALKBH8):c.1216A>G (p.Ser406Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002652438] |
Chr11:107522370 [GRCh38]
Chr11:107393096 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.875A>G (p.His292Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002656168] |
Chr11:107532303 [GRCh38]
Chr11:107403029 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.1700G>A (p.Gly567Glu) |
single nucleotide variant |
ALKBH8-related condition [RCV003966295]|not provided [RCV003222741] |
Chr11:107504953 [GRCh38]
Chr11:107375679 [GRCh37]
Chr11:11q22.3 |
likely benign |
| NM_138775.3(ALKBH8):c.345G>C (p.Leu115=) |
single nucleotide variant |
not provided [RCV003222742] |
Chr11:107556788 [GRCh38]
Chr11:107427514 [GRCh37]
Chr11:11q22.3 |
likely benign |
| NM_138775.3(ALKBH8):c.1859G>T (p.Ser620Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003178884]|not provided [RCV003227096] |
Chr11:107504794 [GRCh38]
Chr11:107375520 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.1693G>A (p.Glu565Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003178883]|not provided [RCV003227095] |
Chr11:107504960 [GRCh38]
Chr11:107375686 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.617G>T (p.Ser206Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003178395] |
Chr11:107551891 [GRCh38]
Chr11:107422617 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.865C>T (p.Leu289Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003213394] |
Chr11:107532313 [GRCh38]
Chr11:107403039 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.604G>A (p.Asp202Asn) |
single nucleotide variant |
ALKBH8-related condition [RCV003966298]|not provided [RCV003229460] |
Chr11:107551904 [GRCh38]
Chr11:107422630 [GRCh37]
Chr11:11q22.3 |
likely benign|uncertain significance |
| NM_138775.3(ALKBH8):c.829C>T (p.Arg277Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003260398] |
Chr11:107532349 [GRCh38]
Chr11:107403075 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.132C>G (p.Ser44Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003184229]|not provided [RCV003320930] |
Chr11:107557001 [GRCh38]
Chr11:107427727 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.1646G>A (p.Gly549Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003210002] |
Chr11:107505007 [GRCh38]
Chr11:107375733 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.899A>G (p.Asp300Gly) |
single nucleotide variant |
not provided [RCV003319097] |
Chr11:107525572 [GRCh38]
Chr11:107396298 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.170G>A (p.Ser57Asn) |
single nucleotide variant |
not provided [RCV003319102] |
Chr11:107556963 [GRCh38]
Chr11:107427689 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.437C>T (p.Ser146Phe) |
single nucleotide variant |
not provided [RCV003387635] |
Chr11:107553909 [GRCh38]
Chr11:107424635 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.1025A>G (p.Asn342Ser) |
single nucleotide variant |
ALKBH8-related condition [RCV003929035]|not provided [RCV003396061] |
Chr11:107525446 [GRCh38]
Chr11:107396172 [GRCh37]
Chr11:11q22.3 |
benign|likely benign |
| NM_138775.3(ALKBH8):c.219T>G (p.Ala73=) |
single nucleotide variant |
not provided [RCV003396064] |
Chr11:107556914 [GRCh38]
Chr11:107427640 [GRCh37]
Chr11:11q22.3 |
likely benign |
| Single allele |
duplication |
not provided [RCV003448710] |
Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25 |
pathogenic |
| NM_138775.3(ALKBH8):c.1369_1379delinsTCA (p.Val457fs) |
indel |
Intellectual developmental disorder, autosomal recessive 71 [RCV003388884] |
Chr11:107510945..107510955 [GRCh38]
Chr11:107381671..107381681 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.729C>T (p.Ser243=) |
single nucleotide variant |
not provided [RCV003396062] |
Chr11:107549795 [GRCh38]
Chr11:107420521 [GRCh37]
Chr11:11q22.3 |
likely benign |
| NM_138775.3(ALKBH8):c.1590G>A (p.Glu530=) |
single nucleotide variant |
not provided [RCV003390136] |
Chr11:107505063 [GRCh38]
Chr11:107375789 [GRCh37]
Chr11:11q22.3 |
likely benign |
| NM_138775.3(ALKBH8):c.1432A>G (p.Thr478Ala) |
single nucleotide variant |
ALKBH8-related condition [RCV003946631]|not provided [RCV003456790] |
Chr11:107510892 [GRCh38]
Chr11:107381618 [GRCh37]
Chr11:11q22.3 |
benign |
| NM_138775.3(ALKBH8):c.459G>A (p.Leu153=) |
single nucleotide variant |
not provided [RCV003396063] |
Chr11:107553887 [GRCh38]
Chr11:107424613 [GRCh37]
Chr11:11q22.3 |
likely benign |
| NM_138775.3(ALKBH8):c.1712G>A (p.Arg571Lys) |
single nucleotide variant |
ALKBH8-related condition [RCV003939725] |
Chr11:107504941 [GRCh38]
Chr11:107375667 [GRCh37]
Chr11:11q22.3 |
benign |
| NM_138775.3(ALKBH8):c.146A>G (p.Asn49Ser) |
single nucleotide variant |
not provided [RCV003884900] |
Chr11:107556987 [GRCh38]
Chr11:107427713 [GRCh37]
Chr11:11q22.3 |
benign |
| NM_138775.3(ALKBH8):c.1957G>T (p.Asp653Tyr) |
single nucleotide variant |
ALKBH8-related condition [RCV003919770] |
Chr11:107504696 [GRCh38]
Chr11:107375422 [GRCh37]
Chr11:11q22.3 |
benign |
| NM_138775.3(ALKBH8):c.368-5C>T |
single nucleotide variant |
ALKBH8-related condition [RCV003919758] |
Chr11:107553983 [GRCh38]
Chr11:107424709 [GRCh37]
Chr11:11q22.3 |
benign |
| NM_138775.3(ALKBH8):c.1834G>T (p.Gly612Cys) |
single nucleotide variant |
ALKBH8-related condition [RCV003937070] |
Chr11:107504819 [GRCh38]
Chr11:107375545 [GRCh37]
Chr11:11q22.3 |
benign |
| NM_138775.3(ALKBH8):c.-6-5dup |
duplication |
ALKBH8-related condition [RCV003929814] |
Chr11:107560903..107560904 [GRCh38]
Chr11:107431629..107431630 [GRCh37]
Chr11:11q22.3 |
likely benign |
| NM_138775.3(ALKBH8):c.1892G>A (p.Arg631His) |
single nucleotide variant |
ALKBH8-related condition [RCV003933985] |
Chr11:107504761 [GRCh38]
Chr11:107375487 [GRCh37]
Chr11:11q22.3 |
likely benign |
| NM_138775.3(ALKBH8):c.1288-10T>C |
single nucleotide variant |
ALKBH8-related condition [RCV003969778] |
Chr11:107511046 [GRCh38]
Chr11:107381772 [GRCh37]
Chr11:11q22.3 |
likely benign |
| NM_138775.3(ALKBH8):c.1676G>A (p.Arg559His) |
single nucleotide variant |
ALKBH8-related condition [RCV003959067] |
Chr11:107504977 [GRCh38]
Chr11:107375703 [GRCh37]
Chr11:11q22.3 |
likely benign |
| NM_138775.3(ALKBH8):c.886T>G (p.Cys296Gly) |
single nucleotide variant |
ALKBH8-related condition [RCV003971407] |
Chr11:107525585 [GRCh38]
Chr11:107396311 [GRCh37]
Chr11:11q22.3 |
benign |
| NM_138775.3(ALKBH8):c.1874G>A (p.Arg625His) |
single nucleotide variant |
Intellectual developmental disorder, autosomal recessive 71 [RCV003988670] |
Chr11:107504779 [GRCh38]
Chr11:107375505 [GRCh37]
Chr11:11q22.3 |
uncertain significance |
| NM_138775.3(ALKBH8):c.243G>C (p.Pro81=) |
single nucleotide variant |
ALKBH8-related condition [RCV003916927] |
Chr11:107556890 [GRCh38]
Chr11:107427616 [GRCh37]
Chr11:11q22.3 |
benign |
