Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Opitz GBBB syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Opitz GBBB syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
6. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:7493033 | PMID:9354791 | PMID:9425238 | PMID:9718340 | PMID:9722948 | PMID:10077590 | PMID:10400985 | PMID:11030761 | PMID:11331580 | PMID:11371618 | PMID:11685209 | PMID:11806752 |
PMID:12408967 | PMID:12411602 | PMID:12477932 | PMID:12545276 | PMID:12798296 | PMID:12833403 | PMID:15057556 | PMID:15070402 | PMID:15489334 | PMID:15558842 | PMID:16344560 | PMID:16378742 |
PMID:16434393 | PMID:16498413 | PMID:16529770 | PMID:17043407 | PMID:17081983 | PMID:17221865 | PMID:17428496 | PMID:17438131 | PMID:17617638 | PMID:17672918 | PMID:18005432 | PMID:18172692 |
PMID:18220417 | PMID:18360914 | PMID:18697196 | PMID:18949047 | PMID:19049519 | PMID:19322201 | PMID:19490893 | PMID:19549727 | PMID:19734545 | PMID:19818709 | PMID:20092282 | PMID:20301502 |
PMID:20301753 | PMID:21143188 | PMID:21296087 | PMID:21326312 | PMID:21454489 | PMID:21516116 | PMID:21555591 | PMID:21873635 | PMID:21903422 | PMID:21930711 | PMID:22194938 | PMID:22493164 |
PMID:22613722 | PMID:22829933 | PMID:22939629 | PMID:23334847 | PMID:23443539 | PMID:23740247 | PMID:23791568 | PMID:24321989 | PMID:24484909 | PMID:24913494 | PMID:25207814 | PMID:25216264 |
PMID:25278022 | PMID:25304119 | PMID:25416956 | PMID:25728276 | PMID:25874572 | PMID:25910212 | PMID:25981737 | PMID:26186194 | PMID:26344197 | PMID:26496610 | PMID:26748699 | PMID:27367845 |
PMID:27555585 | PMID:27693496 | PMID:28514442 | PMID:28548391 | PMID:28685749 | PMID:28760657 | PMID:28786561 | PMID:29062069 | PMID:29121065 | PMID:29293623 | PMID:29450633 | PMID:29456483 |
PMID:29499308 | PMID:29507755 | PMID:29509190 | PMID:30450809 | PMID:30732588 | PMID:31515488 | PMID:31586073 | PMID:32296183 | PMID:32656166 | PMID:32737199 | PMID:32807901 | PMID:32926417 |
PMID:33513265 | PMID:33961781 | PMID:34039624 | PMID:34434118 | PMID:34502089 | PMID:34672954 | PMID:35271311 | PMID:35384245 | PMID:35446349 | PMID:35563538 | PMID:35794827 | PMID:35909127 |
PMID:36215168 | PMID:36426865 | PMID:36709645 | PMID:36820504 | PMID:36826998 | PMID:37498300 | PMID:37827155 | PMID:38238086 | PMID:38392560 |
MID1 (Homo sapiens - human) |
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Mid1 (Mus musculus - house mouse) |
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Mid1 (Rattus norvegicus - Norway rat) |
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Mid1 (Chinchilla lanigera - long-tailed chinchilla) |
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MID1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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MID1 (Canis lupus familiaris - dog) |
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Mid1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MID1 (Sus scrofa - pig) |
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MID1 (Chlorocebus sabaeus - green monkey) |
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Mid1 (Heterocephalus glaber - naked mole-rat) |
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Variants in MID1
337 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 | copy number gain | See cases [RCV000133911] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
NM_000381.4(MID1):c.712G>T (p.Glu238Ter) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV000022867] | ChrX:10523136 [GRCh38] ChrX:10491176 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV000659854]|not provided [RCV000627230] | ChrX:10455042 [GRCh38] ChrX:10423082 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1282G>A (p.Val428Ile) | single nucleotide variant | not provided [RCV000729030] | ChrX:10469700 [GRCh38] ChrX:10437740 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1311GAT[1] (p.Met438del) | microsatellite | X-linked Opitz G/BBB syndrome [RCV000011552] | ChrX:10459777..10459779 [GRCh38] ChrX:10427817..10427819 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1601_1624dup (p.His541_Tyr542insLeuPheIleAspSerGlyArgHis) | duplication | X-linked Opitz G/BBB syndrome [RCV000011553]|not provided [RCV003565382] | ChrX:10454900..10454901 [GRCh38] ChrX:10422940..10422941 [GRCh37] ChrX:Xp22.2 |
pathogenic|uncertain significance |
NM_000381.4(MID1):c.1558dup (p.Glu520fs) | duplication | X-linked Opitz G/BBB syndrome [RCV000011554] | ChrX:10454966..10454967 [GRCh38] ChrX:10423006..10423007 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1877T>C (p.Leu626Pro) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV000011555] | ChrX:10449495 [GRCh38] ChrX:10417535 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.343G>T (p.Glu115Ter) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV000011556] | ChrX:10567205 [GRCh38] ChrX:10535245 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NG_008197.2:g.(218402_271087)_(271804_315503)dup | duplication | X-linked Opitz G/BBB syndrome [RCV000011557] | ChrX:Xp22 | pathogenic |
NM_000381.4(MID1):c.884T>C (p.Leu295Pro) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV000011558] | ChrX:10482609 [GRCh38] ChrX:10450649 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer) | microsatellite | Inborn genetic diseases [RCV001266261]|X-linked Opitz G/BBB syndrome [RCV000011559] | ChrX:10454978..10454979 [GRCh38] ChrX:10423018..10423019 [GRCh37] ChrX:Xp22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 | copy number gain | See cases [RCV000050889] | ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 | copy number gain | See cases [RCV000050810] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 | copy number loss | See cases [RCV000050811] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000050699] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | Global developmental delay [RCV000050386]|See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000050697] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 | copy number loss | See cases [RCV000051026] | ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1 | copy number loss | See cases [RCV000051034] | ChrX:10679..11240163 [GRCh38] ChrX:60679..11258283 [GRCh37] ChrX:679..11168204 [NCBI36] ChrX:Xp22.33-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 | copy number gain | See cases [RCV000052322] | ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 | copy number gain | See cases [RCV000052359] | ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] | ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 | copy number gain | See cases [RCV000052324] | ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3 | copy number gain | See cases [RCV000052360] | ChrX:6837101..13719231 [GRCh38] ChrX:6755142..13737350 [GRCh37] ChrX:6765142..13647271 [NCBI36] ChrX:Xp22.31-22.2 |
pathogenic |
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] | ChrX:7992018..14435892 [GRCh38] ChrX:7960059..14454014 [GRCh37] ChrX:7920059..14363935 [NCBI36] ChrX:Xp22.31-22.2 |
pathogenic |
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 | copy number gain | See cases [RCV000052362] | ChrX:9038047..16646589 [GRCh38] ChrX:9006088..16664712 [GRCh37] ChrX:8966088..16574633 [NCBI36] ChrX:Xp22.31-22.2 |
pathogenic |
GRCh38/hg38 Xp22.2(chrX:10759076-11065570)x2 | copy number gain | See cases [RCV000052363] | ChrX:10759076..11065570 [GRCh38] ChrX:10727116..11083690 [GRCh37] ChrX:10687116..10993611 [NCBI36] ChrX:Xp22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 | copy number gain | See cases [RCV000052328] | ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 | copy number gain | See cases [RCV000052325] | ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.31-22.2(chrX:8327550-10980235)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|See cases [RCV000053056] | ChrX:8327550..10980235 [GRCh38] ChrX:8295591..10998355 [GRCh37] ChrX:8255591..10908276 [NCBI36] ChrX:Xp22.31-22.2 |
pathogenic |
GRCh38/hg38 Xp22.31-22.2(chrX:9540020-13128124)x1 | copy number loss | See cases [RCV000053057] | ChrX:9540020..13128124 [GRCh38] ChrX:9508060..13146243 [GRCh37] ChrX:9468060..13056164 [NCBI36] ChrX:Xp22.31-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 | copy number loss | See cases [RCV000053005] | ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 | copy number loss | See cases [RCV000052981] | ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 | copy number loss | See cases [RCV000052990] | ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-22.2(chrX:3057092-13615172)x1 | copy number loss | See cases [RCV000053026] | ChrX:3057092..13615172 [GRCh38] ChrX:2975133..13633291 [GRCh37] ChrX:2985133..13543212 [NCBI36] ChrX:Xp22.33-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 | copy number loss | See cases [RCV000052993] | ChrX:253129..23023165 [GRCh38] ChrX:169796..23041282 [GRCh37] ChrX:109796..22951203 [NCBI36] ChrX:Xp22.33-22.11 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 | copy number loss | See cases [RCV000052994] | ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.32-22.2(chrX:4557134-10838424)x1 | copy number loss | See cases [RCV000053028] | ChrX:4557134..10838424 [GRCh38] ChrX:4475175..10856543 [GRCh37] ChrX:4485175..10766464 [NCBI36] ChrX:Xp22.32-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 | copy number loss | See cases [RCV000053007] | ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 | copy number loss | See cases [RCV000052968] | ChrX:10679..11803947 [GRCh38] ChrX:60679..11822066 [GRCh37] ChrX:679..11731987 [NCBI36] ChrX:Xp22.33-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] | ChrX:10679..21811030 [GRCh38] ChrX:60679..21829148 [GRCh37] ChrX:679..21739069 [NCBI36] ChrX:Xp22.33-22.12 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] | ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
Single allele | duplication | Opitz-Frias syndrome [RCV000173680] | ChrX:10417613..10417614 [GRCh37] | pathogenic |
GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x3 | copy number gain | See cases [RCV000054140] | ChrX:10433348..10502326 [GRCh38] ChrX:10401388..10470366 [GRCh37] ChrX:10361388..10430366 [NCBI36] ChrX:Xp22.2 |
likely benign|uncertain significance|conflicting data from submitters |
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 | copy number gain | See cases [RCV000053817] | ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
NM_000381.4(MID1):c.1454del (p.Pro485fs) | deletion | X-linked Opitz G/BBB syndrome [RCV000659853] | ChrX:10455071 [GRCh38] ChrX:10423111 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.1725G>A (p.Trp575Ter) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV000659857] | ChrX:10449647 [GRCh38] ChrX:10417687 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.1354G>A (p.Gly452Ser) | single nucleotide variant | not provided [RCV000657884] | ChrX:10459739 [GRCh38] ChrX:10427779 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.757-1G>C | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV000659848] | ChrX:10495692 [GRCh38] ChrX:10463732 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.922del (p.Arg308fs) | deletion | X-linked Opitz G/BBB syndrome [RCV000659850] | ChrX:10482571 [GRCh38] ChrX:10450611 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.829C>T (p.Arg277Ter) | single nucleotide variant | Dandy-Walker syndrome [RCV001263107]|X-linked Opitz G/BBB syndrome [RCV000659849]|not provided [RCV001007969] | ChrX:10495619 [GRCh38] ChrX:10463659 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV000659858] | ChrX:10449491 [GRCh38] ChrX:10417531 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.1393G>C (p.Ala465Pro) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV000659852] | ChrX:10459700 [GRCh38] ChrX:10427740 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1663A>G (p.Ile555Val) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV000659856]|not specified [RCV003323663] | ChrX:10449709 [GRCh38] ChrX:10417749 [GRCh37] ChrX:Xp22.2 |
pathogenic|uncertain significance |
NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter) | duplication | X-linked Opitz G/BBB syndrome [RCV000659855] | ChrX:10454913..10454914 [GRCh38] ChrX:10422953..10422954 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1230C>T (p.Ser410=) | single nucleotide variant | Inborn genetic diseases [RCV002311554]|not provided [RCV001719817]|not specified [RCV000078675] | ChrX:10469752 [GRCh38] ChrX:10437792 [GRCh37] ChrX:Xp22.2 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_000381.4(MID1):c.1299G>A (p.Ser433=) | single nucleotide variant | not provided [RCV000909400]|not specified [RCV000078676] | ChrX:10459794 [GRCh38] ChrX:10427834 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1663A>C (p.Ile555Leu) | single nucleotide variant | not provided [RCV000078677] | ChrX:10449709 [GRCh38] ChrX:10417749 [GRCh37] ChrX:Xp22.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000381.4(MID1):c.1798dup (p.His600fs) | duplication | X-linked Opitz G/BBB syndrome [RCV000173680]|not provided [RCV000790799] | ChrX:10449573..10449574 [GRCh38] ChrX:10417613..10417614 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile) | single nucleotide variant | Inborn genetic diseases [RCV002415575]|MID1-related condition [RCV003905041]|not provided [RCV000078679] | ChrX:10449384 [GRCh38] ChrX:10417424 [GRCh37] ChrX:Xp22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) | single nucleotide variant | Inborn genetic diseases [RCV002311555]|X-linked Opitz G/BBB syndrome [RCV000659859]|not provided [RCV000950878]|not specified [RCV000078680] | ChrX:10449372 [GRCh38] ChrX:10417412 [GRCh37] ChrX:Xp22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000381.4(MID1):c.498G>A (p.Pro166=) | single nucleotide variant | Inborn genetic diseases [RCV002313748]|MID1-related condition [RCV003905042]|X-linked Opitz G/BBB syndrome [RCV002490679]|not provided [RCV000974377]|not specified [RCV000078681] | ChrX:10567050 [GRCh38] ChrX:10535090 [GRCh37] ChrX:Xp22.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_000381.4(MID1):c.783del (p.Lys261fs) | deletion | not provided [RCV000178081] | ChrX:10495665 [GRCh38] ChrX:10463705 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.861G>A (p.Gly287=) | single nucleotide variant | Inborn genetic diseases [RCV002316220]|not provided [RCV000893089]|not specified [RCV000078683] | ChrX:10495587 [GRCh38] ChrX:10463627 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.947C>A (p.Ala316Glu) | single nucleotide variant | not provided [RCV000078684] | ChrX:10482546 [GRCh38] ChrX:10450586 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.75C>T (p.Cys25=) | single nucleotide variant | Inborn genetic diseases [RCV002316311]|not provided [RCV000957471]|not specified [RCV000117621] | ChrX:10567473 [GRCh38] ChrX:10535513 [GRCh37] ChrX:Xp22.2 |
benign |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 | copy number gain | See cases [RCV000133654] | ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_000381.4(MID1):c.476A>G (p.His159Arg) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV001332393] | ChrX:10567072 [GRCh38] ChrX:10535112 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.588C>G (p.Ala196=) | single nucleotide variant | Inborn genetic diseases [RCV002317013]|MID1-related condition [RCV003907572]|not provided [RCV000893171]|not specified [RCV000175591] | ChrX:10566960 [GRCh38] ChrX:10535000 [GRCh37] ChrX:Xp22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000381.4(MID1):c.661-22_661-21dup | duplication | not provided [RCV000224077]|not specified [RCV000177053] | ChrX:10523193..10523194 [GRCh38] ChrX:10491233..10491234 [GRCh37] ChrX:Xp22.2 |
benign|conflicting interpretations of pathogenicity |
NM_000381.4(MID1):c.661-7dup | duplication | not provided [RCV001573509]|not specified [RCV000177054] | ChrX:10523193..10523194 [GRCh38] ChrX:10491234 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_000381.4(MID1):c.1444_1447dup (p.Ser483fs) | duplication | not provided [RCV000180149] | ChrX:10459645..10459646 [GRCh38] ChrX:10427685..10427686 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_033290.3(MID1):c.1305_1306insTGAT (p.Ser436Terfs) | insertion | Opitz-Frias syndrome [RCV000180150] | ChrX:10459787..10459788 [GRCh38] ChrX:10427827..10427828 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1266C>T (p.Thr422=) | single nucleotide variant | Inborn genetic diseases [RCV002444720]|not provided [RCV000879005]|not specified [RCV000179754] | ChrX:10469716 [GRCh38] ChrX:10437756 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 | copy number gain | See cases [RCV000239834] | ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_000381.4(MID1):c.757-5745G>A | single nucleotide variant | not provided [RCV000513772] | ChrX:10501436 [GRCh38] ChrX:10469476 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1767T>C (p.Asn589=) | single nucleotide variant | not provided [RCV000173681] | ChrX:10449605 [GRCh38] ChrX:10417645 [GRCh37] ChrX:Xp22.2 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 | copy number loss | See cases [RCV000133792] | ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 | copy number loss | See cases [RCV000133817] | ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 | copy number loss | See cases [RCV000133745] | ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 | copy number gain | See cases [RCV000134564] | ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 | copy number loss | See cases [RCV000134568] | ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1 |
pathogenic |
GRCh38/hg38 Xp22.2(chrX:10792013-10806827)x2 | copy number gain | See cases [RCV000134746] | ChrX:10792013..10806827 [GRCh38] ChrX:10810132..10824946 [GRCh37] ChrX:10720053..10734867 [NCBI36] ChrX:Xp22.2 |
uncertain significance |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 | copy number loss | See cases [RCV000134026] | ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 | copy number loss | See cases [RCV000133947] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 | copy number loss | See cases [RCV000135321] | ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 | copy number loss | See cases [RCV000135305] | ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 | copy number loss | See cases [RCV000135299] | ChrX:233335..37292980 [GRCh38] ChrX:150002..37152232 [GRCh37] ChrX:90002..37037153 [NCBI36] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 | copy number gain | See cases [RCV000134957] | ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-22.2(chrX:4082541-12772302)x2 | copy number gain | See cases [RCV000135636] | ChrX:4082541..12772302 [GRCh38] ChrX:4000582..12790421 [GRCh37] ChrX:4010582..12700342 [NCBI36] ChrX:Xp22.33-22.2 |
likely pathogenic |
GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x2 | copy number gain | See cases [RCV000135761] | ChrX:10433348..10502326 [GRCh38] ChrX:10401388..10470366 [GRCh37] ChrX:10361388..10430366 [NCBI36] ChrX:Xp22.2 |
uncertain significance |
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 | copy number loss | See cases [RCV000135551] | ChrX:10679..36186635 [GRCh38] ChrX:60679..36202463 [GRCh37] ChrX:679..36114673 [NCBI36] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh38/hg38 Xp22.2(chrX:10181602-10812117)x2 | copy number gain | See cases [RCV000135604] | ChrX:10181602..10812117 [GRCh38] ChrX:10149642..10830236 [GRCh37] ChrX:10109642..10740157 [NCBI36] ChrX:Xp22.2 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 | copy number loss | See cases [RCV000136478] | ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 | copy number loss | See cases [RCV000136097] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 | copy number gain | See cases [RCV000135895] | ChrX:2936461..17287323 [GRCh38] ChrX:2854502..17305446 [GRCh37] ChrX:2864502..17215367 [NCBI36] ChrX:Xp22.33-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) | copy number loss | See cases [RCV000136094] | ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 | copy number loss | See cases [RCV000136005] | ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 | copy number loss | See cases [RCV000137112] | ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic|uncertain significance |
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 | copy number gain | See cases [RCV000137137] | ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 | copy number gain | See cases [RCV000136841] | ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 | copy number gain | See cases [RCV000136791] | ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 | copy number loss | See cases [RCV000137430] | ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.2(chrX:10764623-10923531)x2 | copy number gain | See cases [RCV000137710] | ChrX:10764623..10923531 [GRCh38] ChrX:10732663..10941651 [GRCh37] ChrX:10692663..10851572 [NCBI36] ChrX:Xp22.2 |
uncertain significance |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 | copy number loss | See cases [RCV000137552] | ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 | copy number loss | See cases [RCV000137252] | ChrX:10679..16187419 [GRCh38] ChrX:60679..16205542 [GRCh37] ChrX:679..16115463 [NCBI36] ChrX:Xp22.33-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 | copy number gain | See cases [RCV000137383] | ChrX:10701..21866242 [GRCh38] ChrX:60701..21884360 [GRCh37] ChrX:701..21794281 [NCBI36] ChrX:Xp22.33-22.12 |
uncertain significance |
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 | copy number loss | See cases [RCV000137166] | ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 | copy number loss | See cases [RCV000137413] | ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 | copy number loss | See cases [RCV000138019] | ChrX:10701..37723318 [GRCh38] ChrX:60701..37318587 [GRCh37] ChrX:701..37467510 [NCBI36] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 | copy number loss | See cases [RCV000137753] | ChrX:9239101..16721153 [GRCh38] ChrX:9207141..16739276 [GRCh37] ChrX:9167141..16649197 [NCBI36] ChrX:Xp22.31-22.2 |
uncertain significance |
GRCh38/hg38 Xp22.2(chrX:10791922-10923531)x3 | copy number gain | See cases [RCV000137870] | ChrX:10791922..10923531 [GRCh38] ChrX:10810041..10941651 [GRCh37] ChrX:10719962..10851572 [NCBI36] ChrX:Xp22.2 |
uncertain significance |
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 | copy number loss | See cases [RCV000137886] | ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
pathogenic |
GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1 | copy number loss | See cases [RCV000138680] | ChrX:253124..12931344 [GRCh38] ChrX:169791..12949463 [GRCh37] ChrX:109791..12859384 [NCBI36] ChrX:Xp22.33-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 | copy number loss | See cases [RCV000139343] | ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 | copy number loss | See cases [RCV000139278] | ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 | copy number loss | See cases [RCV000139352] | ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 | copy number gain | See cases [RCV000139888] | ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 | copy number gain | See cases [RCV000141400] | ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 | copy number gain | See cases [RCV000141261] | ChrX:3909315..38682287 [GRCh38] ChrX:3827356..38541541 [GRCh37] ChrX:3837356..38426485 [NCBI36] ChrX:Xp22.33-11.4 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 | copy number gain | See cases [RCV000141401] | ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 | copy number gain | See cases [RCV000140786] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 | copy number loss | See cases [RCV000140711] | ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 | copy number loss | See cases [RCV000140787] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 | copy number loss | See cases [RCV000141741] | ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 | copy number loss | See cases [RCV000142334] | ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 | copy number loss | See cases [RCV000142035] | ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 | copy number gain | See cases [RCV000142134] | ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 | copy number loss | See cases [RCV000142053] | ChrX:251879..16967290 [GRCh38] ChrX:168546..16985413 [GRCh37] ChrX:108546..16895334 [NCBI36] ChrX:Xp22.33-22.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 | copy number gain | See cases [RCV000142625] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 | copy number loss | See cases [RCV000143441] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 | copy number gain | See cases [RCV000143433] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 | copy number loss | See cases [RCV000143348] | ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 | copy number gain | See cases [RCV000143219] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 | copy number loss | See cases [RCV000143130] | ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 | copy number loss | See cases [RCV000143496] | ChrX:251879..35885004 [GRCh38] ChrX:168546..35903121 [GRCh37] ChrX:108546..35813042 [NCBI36] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh38/hg38 Xp22.2(chrX:10427226-10504306)x3 | copy number gain | See cases [RCV000143583] | ChrX:10427226..10504306 [GRCh38] ChrX:10395266..10472346 [GRCh37] ChrX:10355266..10432346 [NCBI36] ChrX:Xp22.2 |
uncertain significance |
GRCh38/hg38 Xp22.2(chrX:10544684-11145505)x2 | copy number gain | See cases [RCV000143592] | ChrX:10544684..11145505 [GRCh38] ChrX:10512724..11163625 [GRCh37] ChrX:10472724..11073546 [NCBI36] ChrX:Xp22.2 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000148141] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x3 | copy number gain | See cases [RCV000148127] | ChrX:10433348..10502326 [GRCh38] ChrX:10401388..10470366 [GRCh37] ChrX:10361388..10430366 [NCBI36] ChrX:Xp22.2 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000148135] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_000381.4(MID1):c.99C>T (p.Cys33=) | single nucleotide variant | not provided [RCV000153498] | ChrX:10567449 [GRCh38] ChrX:10535489 [GRCh37] ChrX:Xp22.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000381.4(MID1):c.1302_1305dup (p.Ser436Ter) | duplication | not provided [RCV000180150] | ChrX:10459787..10459788 [GRCh38] ChrX:10427827..10427828 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.849_854del (p.Ile284_Lys285del) | deletion | not provided [RCV000153502] | ChrX:10495594..10495599 [GRCh38] ChrX:10463634..10463639 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_033290.3(MID1):c.-57+73191A>G | single nucleotide variant | Lung cancer [RCV000102164] | ChrX:10760363 [GRCh38] ChrX:10728403 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.342C>T (p.Ala114=) | single nucleotide variant | not provided [RCV000897854]|not specified [RCV000193951] | ChrX:10567206 [GRCh38] ChrX:10535246 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
NM_000381.4(MID1):c.420C>G (p.Ser140=) | single nucleotide variant | not provided [RCV003718132]|not specified [RCV000195165] | ChrX:10567128 [GRCh38] ChrX:10535168 [GRCh37] ChrX:Xp22.2 |
benign|uncertain significance |
NM_000381.4(MID1):c.1489C>T (p.Leu497=) | single nucleotide variant | not provided [RCV000913916]|not specified [RCV000195281] | ChrX:10455036 [GRCh38] ChrX:10423076 [GRCh37] ChrX:Xp22.2 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000381.4(MID1):c.1537T>C (p.Ser513Pro) | single nucleotide variant | not provided [RCV000180496] | ChrX:10454988 [GRCh38] ChrX:10423028 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1561C>T (p.Arg521Cys) | single nucleotide variant | MID1-related condition [RCV003955099]|not provided [RCV001726026]|not specified [RCV000180497] | ChrX:10454964 [GRCh38] ChrX:10423004 [GRCh37] ChrX:Xp22.2 |
benign|likely benign|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 | copy number gain | See cases [RCV000240122] | ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000381.4(MID1):c.1510T>C (p.Leu504=) | single nucleotide variant | not provided [RCV002517100]|not specified [RCV000192756] | ChrX:10455015 [GRCh38] ChrX:10423055 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
NM_000381.4(MID1):c.661-8_661-7del | deletion | not specified [RCV000193928] | ChrX:10523194..10523195 [GRCh38] ChrX:10491234..10491235 [GRCh37] ChrX:Xp22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 | copy number gain | See cases [RCV000239843] | ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 | copy number loss | See cases [RCV000239814] | ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 | copy number loss | See cases [RCV000239832] | ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000381.4(MID1):c.756+5G>A | single nucleotide variant | not provided [RCV000579330] | ChrX:10523087 [GRCh38] ChrX:10491127 [GRCh37] ChrX:Xp22.2 |
pathogenic |
Single allele | insertion | not provided [RCV000224077] | ChrX:10491233..10491234 [GRCh37] | benign |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 | copy number gain | See cases [RCV000239934] | ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 | copy number gain | See cases [RCV000240106] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 | copy number loss | See cases [RCV000446026] | ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 | copy number loss | See cases [RCV000239902] | ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 | copy number gain | See cases [RCV000239874] | ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000381.4(MID1):c.1361A>G (p.Gln454Arg) | single nucleotide variant | Inborn genetic diseases [RCV000623346]|X-linked Opitz G/BBB syndrome [RCV000659851] | ChrX:10459732 [GRCh38] ChrX:10427772 [GRCh37] ChrX:Xp22.2 |
likely pathogenic|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 | copy number gain | See cases [RCV000240464] | ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 | copy number gain | See cases [RCV000240314] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 | copy number loss | See cases [RCV000240335] | ChrX:71267..35809046 [GRCh37] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 | copy number gain | See cases [RCV000240441] | ChrX:1378591..25940311 [GRCh37] ChrX:Xp22.33-21.3 |
pathogenic |
GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1 | copy number loss | See cases [RCV000240338] | ChrX:71267..12032064 [GRCh37] ChrX:Xp22.33-22.2 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 | copy number gain | See cases [RCV000240541] | ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000381.4(MID1):c.1414_1419dup (p.Arg472_Ser473dup) | duplication | not provided [RCV000282397] | ChrX:10459673..10459674 [GRCh38] ChrX:10427713..10427714 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.949del (p.Glu317fs) | deletion | not provided [RCV003314864] | ChrX:10482544 [GRCh38] ChrX:10450584 [GRCh37] ChrX:Xp22.2 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 | copy number gain | Klinefelter syndrome [RCV002282732] | ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000381.4(MID1):c.769C>A (p.Arg257Ser) | single nucleotide variant | not provided [RCV002288059] | ChrX:10495679 [GRCh38] ChrX:10463719 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1562G>A (p.Arg521His) | single nucleotide variant | not provided [RCV000490086] | ChrX:10454963 [GRCh38] ChrX:10423003 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1656-8_1657del | deletion | not provided [RCV000591725] | ChrX:10449715..10449724 [GRCh38] ChrX:10417755..10417764 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1698A>G (p.Glu566=) | single nucleotide variant | Inborn genetic diseases [RCV002311952]|MID1-related condition [RCV003980077]|not provided [RCV000914615]|not specified [RCV000597546] | ChrX:10449674 [GRCh38] ChrX:10417714 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 | copy number gain | See cases [RCV000449437] | ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | See cases [RCV000449330] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 | copy number gain | See cases [RCV000449393] | ChrX:168546..43917011 [GRCh37] ChrX:Xp22.33-11.3 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) | copy number loss | See cases [RCV000449461] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 | copy number loss | See cases [RCV000446584] | ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 | copy number loss | See cases [RCV000447092] | ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 | copy number gain | See cases [RCV000446270] | ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 | copy number loss | See cases [RCV000446712] | ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 | copy number loss | See cases [RCV000447470] | ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 | copy number loss | See cases [RCV000446197] | ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 | copy number loss | See cases [RCV000446667] | ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2(chrX:10851227-10978163)x3 | copy number gain | See cases [RCV000446247] | ChrX:10851227..10978163 [GRCh37] ChrX:Xp22.2 |
likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | See cases [RCV000446932] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 | copy number gain | See cases [RCV000446310] | ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 | copy number gain | See cases [RCV000447253] | ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2(chrX:10391201-10487867)x2 | copy number gain | See cases [RCV000445883] | ChrX:10391201..10487867 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1679A>G (p.Lys560Arg) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV002265756]|not provided [RCV000440069] | ChrX:10449693 [GRCh38] ChrX:10417733 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.2(chrX:10842514-10978163)x3 | copy number gain | See cases [RCV000445995] | ChrX:10842514..10978163 [GRCh37] ChrX:Xp22.2 |
likely benign |
GRCh37/hg19 Xp22.2(chrX:10299643-10638042) | copy number loss | Abnormal esophagus morphology [RCV000416652] | ChrX:10299643..10638042 [GRCh37] ChrX:Xp22.2 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | See cases [RCV000448393] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 | copy number gain | See cases [RCV000448034] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 | copy number loss | See cases [RCV000447773] | ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 | copy number loss | See cases [RCV000448652] | ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 | copy number loss | See cases [RCV000512136] | ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_000381.4(MID1):c.340G>A (p.Ala114Thr) | single nucleotide variant | not provided [RCV000478970] | ChrX:10567208 [GRCh38] ChrX:10535248 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 | copy number loss | See cases [RCV000510590] | ChrX:168546..37515849 [GRCh37] ChrX:Xp22.33-21.1 |
pathogenic |
NM_000381.4(MID1):c.1695T>C (p.His565=) | single nucleotide variant | not provided [RCV000898406]|not specified [RCV000501627] | ChrX:10449677 [GRCh38] ChrX:10417717 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.567C>T (p.Thr189=) | single nucleotide variant | not provided [RCV003766828]|not specified [RCV000501744] | ChrX:10566981 [GRCh38] ChrX:10535021 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 | copy number loss | See cases [RCV000510382] | ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000381.4(MID1):c.229G>A (p.Val77Ile) | single nucleotide variant | not provided [RCV002056858]|not specified [RCV000499934] | ChrX:10567319 [GRCh38] ChrX:10535359 [GRCh37] ChrX:Xp22.2 |
benign|uncertain significance |
NM_000381.4(MID1):c.1541AGA[1] (p.Lys515del) | microsatellite | Inborn genetic diseases [RCV002404313]|MID1-related condition [RCV003900049]|not specified [RCV000503522] | ChrX:10454979..10454981 [GRCh38] ChrX:10423019..10423021 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 | copy number loss | See cases [RCV000510308] | ChrX:168546..35841052 [GRCh37] ChrX:Xp22.33-21.1 |
pathogenic |
NM_000381.4(MID1):c.34A>G (p.Ile12Val) | single nucleotide variant | not specified [RCV000500062] | ChrX:10567514 [GRCh38] ChrX:10535554 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 | copy number loss | See cases [RCV000510419] | ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
GRCh37/hg19 Xp22.2(chrX:10533428-10669918)x0 | copy number loss | See cases [RCV000510612] | ChrX:10533428..10669918 [GRCh37] ChrX:Xp22.2 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 | copy number loss | See cases [RCV000510437] | ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 | copy number loss | See cases [RCV000511615] | ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 | copy number loss | See cases [RCV000512022] | ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 | copy number loss | See cases [RCV000511350] | ChrX:168546..31085327 [GRCh37] ChrX:Xp22.33-21.2 |
pathogenic |
GRCh37/hg19 Xp22.31-22.2(chrX:6954111-10636640)x1 | copy number loss | See cases [RCV000511565] | ChrX:6954111..10636640 [GRCh37] ChrX:Xp22.31-22.2 |
uncertain significance |
GRCh37/hg19 Xp22.2(chrX:10810471-11339263)x3 | copy number gain | See cases [RCV000511422] | ChrX:10810471..11339263 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) | copy number gain | See cases [RCV000512020] | ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 | copy number loss | See cases [RCV000510822] | ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_000381.4(MID1):c.1765A>G (p.Asn589Asp) | single nucleotide variant | Hypertelorism [RCV000626680] | ChrX:10449607 [GRCh38] ChrX:10417647 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) | copy number gain | not provided [RCV000767802] | ChrX:801301..23768392 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
NM_000381.4(MID1):c.757-5831A>G | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV000626263] | ChrX:10501522 [GRCh38] ChrX:10469562 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 | copy number gain | See cases [RCV000512204] | ChrX:168546..24780527 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
GRCh37/hg19 Xp22.2(chrX:10469305-10700156)x3 | copy number gain | See cases [RCV000512408] | ChrX:10469305..10700156 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) | copy number loss | See cases [RCV000512142] | ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 | copy number loss | See cases [RCV000512339] | ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_000381.4(MID1):c.1342T>C (p.Tyr448His) | single nucleotide variant | Inborn genetic diseases [RCV002316883] | ChrX:10459751 [GRCh38] ChrX:10427791 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 | copy number loss | not provided [RCV000684185] | ChrX:168546..46908284 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 | copy number gain | not provided [RCV000684187] | ChrX:201704..20682168 [GRCh37] ChrX:Xp22.33-22.12 |
pathogenic |
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 | copy number gain | not provided [RCV000684261] | ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31 |
pathogenic |
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 | copy number loss | not provided [RCV000684181] | ChrX:168546..16404364 [GRCh37] ChrX:Xp22.33-22.2 |
pathogenic |
GRCh37/hg19 Xp22.2(chrX:10381839-10487986)x2 | copy number gain | not provided [RCV000684268] | ChrX:10381839..10487986 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
GRCh37/hg19 Xp22.2(chrX:10818107-11070209)x1 | copy number loss | not provided [RCV000684269] | ChrX:10818107..11070209 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.2(chrX:10830655-11053979)x2 | copy number gain | not provided [RCV000684270] | ChrX:10830655..11053979 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.2(chrX:10843658-11016962)x3 | copy number gain | not provided [RCV000684271] | ChrX:10843658..11016962 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 | copy number loss | not provided [RCV000684183] | ChrX:168546..23785738 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 | copy number loss | not provided [RCV000684184] | ChrX:168546..43248706 [GRCh37] ChrX:Xp22.33-11.3 |
pathogenic |
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 | copy number loss | not provided [RCV000684182] | ChrX:168546..18601364 [GRCh37] ChrX:Xp22.33-22.13 |
pathogenic |
NM_000381.4(MID1):c.1310G>A (p.Trp437Ter) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV001808045] | ChrX:10459783 [GRCh38] ChrX:10427823 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 | copy number loss | not provided [RCV000753275] | ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_000381.4(MID1):c.1605T>C (p.Phe535=) | single nucleotide variant | Inborn genetic diseases [RCV002312282]|not provided [RCV002532988] | ChrX:10454920 [GRCh38] ChrX:10422960 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_000381.4(MID1):c.1074A>G (p.Thr358=) | single nucleotide variant | Inborn genetic diseases [RCV002313647]|not provided [RCV003768138] | ChrX:10474690 [GRCh38] ChrX:10442730 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.250G>A (p.Asp84Asn) | single nucleotide variant | History of neurodevelopmental disorder [RCV000719152]|not provided [RCV000899331] | ChrX:10567298 [GRCh38] ChrX:10535338 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
NM_000381.4(MID1):c.1242C>T (p.Tyr414=) | single nucleotide variant | Inborn genetic diseases [RCV002317978]|X-linked Opitz G/BBB syndrome [RCV002493278]|not provided [RCV000900781]|not specified [RCV001816772] | ChrX:10469740 [GRCh38] ChrX:10437780 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 | copy number loss | not provided [RCV000753274] | ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp22.2(chrX:9822921-10818845)x2 | copy number gain | not provided [RCV000753375] | ChrX:9822921..10818845 [GRCh37] ChrX:Xp22.2 |
benign |
GRCh37/hg19 Xp22.2(chrX:10525394-10530851)x0 | copy number loss | not provided [RCV000753377] | ChrX:10525394..10530851 [GRCh37] ChrX:Xp22.2 |
benign |
GRCh37/hg19 Xp22.2(chrX:10530487-10530851)x0 | copy number loss | not provided [RCV000753378] | ChrX:10530487..10530851 [GRCh37] ChrX:Xp22.2 |
benign |
GRCh37/hg19 Xp22.2(chrX:10530487-10535838)x0 | copy number loss | not provided [RCV000753379] | ChrX:10530487..10535838 [GRCh37] ChrX:Xp22.2 |
benign |
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 | copy number loss | not provided [RCV000753273] | ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 | copy number gain | not provided [RCV000753277] | ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 | copy number loss | not provided [RCV000753271] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 | copy number loss | not provided [RCV000753278] | ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele | duplication | Autism [RCV000754363] | ChrX:10000..22474705 [GRCh38] ChrX:Xp22.33-22.11 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 | copy number gain | not provided [RCV000753272] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele | duplication | Autism [RCV000754365] | ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
NM_000381.4(MID1):c.-56-232del | deletion | not provided [RCV001690499] | ChrX:10567835 [GRCh38] ChrX:10535875 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1014-73del | deletion | not provided [RCV001725342] | ChrX:10474823 [GRCh38] ChrX:10442863 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1012A>G (p.Arg338Gly) | single nucleotide variant | not provided [RCV001566909] | ChrX:10482481 [GRCh38] ChrX:10450521 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
Single allele | deletion | Neurodevelopmental disorder [RCV000787440] | ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
NM_000381.4(MID1):c.1285+147G>C | single nucleotide variant | not provided [RCV001609008] | ChrX:10469550 [GRCh38] ChrX:10437590 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1285+334dup | duplication | not provided [RCV001666145] | ChrX:10469361..10469362 [GRCh38] ChrX:10437401..10437402 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.370C>G (p.Gln124Glu) | single nucleotide variant | not provided [RCV000999318] | ChrX:10567178 [GRCh38] ChrX:10535218 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1917del (p.Thr640fs) | deletion | X-linked Opitz G/BBB syndrome [RCV000754789] | ChrX:10449455 [GRCh38] ChrX:10417495 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.302G>A (p.Arg101His) | single nucleotide variant | not provided [RCV000950300]|not specified [RCV001818963] | ChrX:10567246 [GRCh38] ChrX:10535286 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 | copy number loss | not provided [RCV001007224] | ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.2(chrX:10462005-10485205)x0 | copy number loss | not provided [RCV001007258] | ChrX:10462005..10485205 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1888G>A (p.Asp630Asn) | single nucleotide variant | not specified [RCV000780411] | ChrX:10449484 [GRCh38] ChrX:10417524 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 | copy number loss | not provided [RCV001007200] | ChrX:168546..17502124 [GRCh37] ChrX:Xp22.33-22.13 |
pathogenic |
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 | copy number gain | not provided [RCV001007235] | ChrX:1240318..20986848 [GRCh37] ChrX:Xp22.33-22.12 |
pathogenic |
NM_000381.4(MID1):c.107G>A (p.Arg36His) | single nucleotide variant | Inborn genetic diseases [RCV003283972]|X-linked Opitz G/BBB syndrome [RCV001095776] | ChrX:10567441 [GRCh38] ChrX:10535481 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1688dup (p.Lys564fs) | duplication | X-linked Opitz G/BBB syndrome [RCV003314510] | ChrX:10449683..10449684 [GRCh38] ChrX:10417723..10417724 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 | copy number loss | See cases [RCV000790583] | ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 | copy number gain | not provided [RCV000849574] | ChrX:2190434..23795839 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
GRCh37/hg19 Xp22.2(chrX:10837884-10976309)x2 | copy number gain | not provided [RCV000847409] | ChrX:10837884..10976309 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1495G>A (p.Val499Met) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV000850391] | ChrX:10455030 [GRCh38] ChrX:10423070 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 | copy number loss | not provided [RCV001007223] | ChrX:537158..22883547 [GRCh37] ChrX:Xp22.33-22.11 |
pathogenic |
NM_000381.4(MID1):c.642G>A (p.Glu214=) | single nucleotide variant | MID1-related condition [RCV003930817]|not provided [RCV000892128] | ChrX:10566906 [GRCh38] ChrX:10534946 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_000381.4(MID1):c.900A>G (p.Ala300=) | single nucleotide variant | not provided [RCV000915400] | ChrX:10482593 [GRCh38] ChrX:10450633 [GRCh37] ChrX:Xp22.2 |
likely benign |
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 | copy number loss | not provided [RCV000845671] | ChrX:168546..38054739 [GRCh37] ChrX:Xp22.33-11.4 |
pathogenic |
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 | copy number gain | not provided [RCV000847649] | ChrX:2703632..14129100 [GRCh37] ChrX:Xp22.33-22.2 |
pathogenic |
NM_000381.4(MID1):c.2001G>A (p.Pro667=) | single nucleotide variant | not provided [RCV001172199] | ChrX:10449371 [GRCh38] ChrX:10417411 [GRCh37] ChrX:Xp22.2 |
likely benign |
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 | copy number loss | not provided [RCV000846273] | ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV000848828] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | not provided [RCV000846039] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000381.4(MID1):c.807C>T (p.Leu269=) | single nucleotide variant | not provided [RCV000999317] | ChrX:10495641 [GRCh38] ChrX:10463681 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.388G>A (p.Ala130Thr) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV001249712]|not provided [RCV002568698] | ChrX:10567160 [GRCh38] ChrX:10535200 [GRCh37] ChrX:Xp22.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) | copy number gain | Klinefelter syndrome [RCV003236730] | ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000381.4(MID1):c.325A>G (p.Asn109Asp) | single nucleotide variant | not provided [RCV003231907] | ChrX:10567223 [GRCh38] ChrX:10535263 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.973C>G (p.His325Asp) | single nucleotide variant | not provided [RCV003231885] | ChrX:10482520 [GRCh38] ChrX:10450560 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.385del (p.Asp129fs) | deletion | not provided [RCV003126331] | ChrX:10567163 [GRCh38] ChrX:10535203 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NC_000023.10:g.(?_8501036)_(11318732_?)del | deletion | not provided [RCV003107483] | ChrX:8501036..11318732 [GRCh37] ChrX:Xp22.31-22.2 |
pathogenic |
NM_000381.4(MID1):c.757-142A>C | single nucleotide variant | not provided [RCV001708463] | ChrX:10495833 [GRCh38] ChrX:10463873 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1285+282A>C | single nucleotide variant | not provided [RCV001708704] | ChrX:10469415 [GRCh38] ChrX:10437455 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1142-88G>A | single nucleotide variant | not provided [RCV001608710] | ChrX:10469928 [GRCh38] ChrX:10437968 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1285+285C>T | single nucleotide variant | not provided [RCV001676188] | ChrX:10469412 [GRCh38] ChrX:10437452 [GRCh37] ChrX:Xp22.2 |
benign |
GRCh37/hg19 Xp22.2(chrX:10491132-10535643)x1 | copy number loss | not provided [RCV001725847] | ChrX:10491132..10535643 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.661-6G>T | single nucleotide variant | not provided [RCV001573442]|not specified [RCV001702924] | ChrX:10523193 [GRCh38] ChrX:10491233 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_000381.4(MID1):c.1863_1879dup (p.Tyr627Ter) | duplication | X-linked Opitz G/BBB syndrome [RCV001530195] | ChrX:10449492..10449493 [GRCh38] ChrX:10417532..10417533 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.1785T>C (p.Ile595=) | single nucleotide variant | not provided [RCV000941754] | ChrX:10449587 [GRCh38] ChrX:10417627 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.948G>A (p.Ala316=) | single nucleotide variant | not provided [RCV000925923] | ChrX:10482545 [GRCh38] ChrX:10450585 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1968C>T (p.Ile656=) | single nucleotide variant | Inborn genetic diseases [RCV002416172]|not provided [RCV000933383] | ChrX:10449404 [GRCh38] ChrX:10417444 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1013+9A>G | single nucleotide variant | not provided [RCV000884850] | ChrX:10482471 [GRCh38] ChrX:10450511 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.130A>G (p.Thr44Ala) | single nucleotide variant | not provided [RCV000934974] | ChrX:10567418 [GRCh38] ChrX:10535458 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.661-6_661-5insT | insertion | not provided [RCV000890947] | ChrX:10523192..10523193 [GRCh38] ChrX:10491232..10491233 [GRCh37] ChrX:Xp22.2 |
benign |
NM_021072.4(HCN1):c.913A>T (p.Met305Leu) | duplication | not provided [RCV001652831] | ChrX:10523193..10523194 [GRCh38] ChrX:10491233..10491234 [GRCh37] |
benign |
NM_000381.4(MID1):c.661-7del | deletion | not provided [RCV001572904]|not specified [RCV001702125] | ChrX:10523194 [GRCh38] ChrX:10491234 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
GRCh37/hg19 Xp22.2(chrX:10523045-12103994)x3 | copy number gain | not provided [RCV002473573] | ChrX:10523045..12103994 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.2(chrX:10622750-10816469)x0 | copy number loss | not provided [RCV002473856] | ChrX:10622750..10816469 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1649G>A (p.Ser550Asn) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV002472140] | ChrX:10454876 [GRCh38] ChrX:10422916 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1286-219T>C | single nucleotide variant | not provided [RCV001538582] | ChrX:10460026 [GRCh38] ChrX:10428066 [GRCh37] ChrX:Xp22.2 |
benign |
GRCh37/hg19 Xp22.2(chrX:10628212-11011701)x3 | copy number gain | not provided [RCV001007259] | ChrX:10628212..11011701 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1270C>T (p.Gln424Ter) | single nucleotide variant | not provided [RCV001093290] | ChrX:10469712 [GRCh38] ChrX:10437752 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1414C>T (p.Arg472Cys) | single nucleotide variant | not provided [RCV001529311] | ChrX:10459679 [GRCh38] ChrX:10427719 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.2(chrX:10808859-10944154)x2 | copy number gain | not provided [RCV001007260] | ChrX:10808859..10944154 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 | copy number loss | not provided [RCV001007559] | ChrX:168546..34753512 [GRCh37] ChrX:Xp22.33-21.1 |
pathogenic |
GRCh37/hg19 Xp22.2(chrX:10557835-10696942)x3 | copy number gain | not provided [RCV001259463] | ChrX:10557835..10696942 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.2(chrX:10843952-11016962)x2 | copy number gain | not provided [RCV001260008] | ChrX:10843952..11016962 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.-56-195T>C | single nucleotide variant | not provided [RCV001641585] | ChrX:10567798 [GRCh38] ChrX:10535838 [GRCh37] ChrX:Xp22.2 |
benign |
Single allele | complex | Turner syndrome [RCV002280670] | ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.2(chrX:10578932-11326337)x2 | copy number gain | See cases [RCV001264398] | ChrX:10578932..11326337 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 | copy number loss | See cases [RCV001263061] | ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) | copy number loss | Turner syndrome [RCV002280669] | ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
NM_000381.4(MID1):c.1655+1G>A | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV001261288] | ChrX:10454869 [GRCh38] ChrX:10422909 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3 | copy number gain | not provided [RCV001259461] | ChrX:10478359..15357092 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.639_642del (p.Glu214fs) | microsatellite | not provided [RCV001581444] | ChrX:10566906..10566909 [GRCh38] ChrX:10534946..10534949 [GRCh37] ChrX:Xp22.2 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 | copy number loss | not provided [RCV001281358] | ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_000381.4(MID1):c.1619_1638del (p.Arg540fs) | deletion | not provided [RCV001281627] | ChrX:10454887..10454906 [GRCh38] ChrX:10422927..10422946 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1279G>A (p.Val427Ile) | single nucleotide variant | Inborn genetic diseases [RCV002375324]|not provided [RCV001281559] | ChrX:10469703 [GRCh38] ChrX:10437743 [GRCh37] ChrX:Xp22.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000381.4(MID1):c.1142-1G>T | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV001270717] | ChrX:10469841 [GRCh38] ChrX:10437881 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NC_000023.10:g.(?_8501036)_(11318732_?)dup | duplication | not provided [RCV001488307] | ChrX:8501036..11318732 [GRCh37] ChrX:Xp22.31-22.2 |
likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 | copy number loss | not provided [RCV001537933] | ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000381.4(MID1):c.757-10782G>A | single nucleotide variant | not provided [RCV001715040] | ChrX:10506473 [GRCh38] ChrX:10474513 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.865-131T>C | single nucleotide variant | not provided [RCV001695776] | ChrX:10482759 [GRCh38] ChrX:10450799 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1924A>C (p.Thr642Pro) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV001730030] | ChrX:10449448 [GRCh38] ChrX:10417488 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.862A>G (p.Lys288Glu) | single nucleotide variant | not provided [RCV003237453] | ChrX:10495586 [GRCh38] ChrX:10463626 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.870G>A (p.Met290Ile) | single nucleotide variant | not provided [RCV001765394] | ChrX:10482623 [GRCh38] ChrX:10450663 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.757-1G>A | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV001733877] | ChrX:10495692 [GRCh38] ChrX:10463732 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.992C>G (p.Thr331Ser) | single nucleotide variant | not provided [RCV001765845] | ChrX:10482501 [GRCh38] ChrX:10450541 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1101C>T (p.Ser367=) | single nucleotide variant | not provided [RCV003718430]|not specified [RCV001822307] | ChrX:10474663 [GRCh38] ChrX:10442703 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV001834509] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_000381.4(MID1):c.889C>T (p.Gln297Ter) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV001843827] | ChrX:10482604 [GRCh38] ChrX:10450644 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
GRCh37/hg19 Xp22.2(chrX:10557835-10696942) | copy number gain | not specified [RCV002052775] | ChrX:10557835..10696942 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1298C>T (p.Ser433Leu) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV001839394]|not provided [RCV003738107] | ChrX:10459795 [GRCh38] ChrX:10427835 [GRCh37] ChrX:Xp22.2 |
benign|uncertain significance |
GRCh37/hg19 Xp22.2(chrX:10843953-11025900)x2 | copy number gain | not provided [RCV001836494] | ChrX:10843953..11025900 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.2(chrX:10843952-11011701)x3 | copy number gain | not provided [RCV001829143] | ChrX:10843952..11011701 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.2(chrX:10808860-10951847)x3 | copy number gain | not provided [RCV001834151] | ChrX:10808860..10951847 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | not provided [RCV001829212] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2(chrX:10821866-11220294) | copy number gain | not specified [RCV002052776] | ChrX:10821866..11220294 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1948A>C (p.Ile650Leu) | single nucleotide variant | not provided [RCV001887368] | ChrX:10449424 [GRCh38] ChrX:10417464 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.971_978dup (p.Arg327fs) | duplication | not provided [RCV001900320] | ChrX:10482514..10482515 [GRCh38] ChrX:10450554..10450555 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1193C>G (p.Thr398Ser) | single nucleotide variant | not provided [RCV001866341] | ChrX:10469789 [GRCh38] ChrX:10437829 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.809T>C (p.Ile270Thr) | single nucleotide variant | not provided [RCV002224926] | ChrX:10495639 [GRCh38] ChrX:10463679 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.535G>A (p.Glu179Lys) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV002211055] | ChrX:10567013 [GRCh38] ChrX:10535053 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NC_000023.10:g.(?_10450500)_(10450688_?)del | deletion | not provided [RCV003111123] | ChrX:10450500..10450688 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NC_000023.10:g.(?_10491112)_(10535587_?)del | deletion | not provided [RCV003111124] | ChrX:10491112..10535587 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NC_000023.10:g.(?_10417408)_(10423137_?)del | deletion | not provided [RCV003111125] | ChrX:10417408..10423137 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NC_000023.10:g.(?_10450500)_(10450688_?)dup | duplication | not provided [RCV003111126] | ChrX:10450500..10450688 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.673_674del (p.Glu224_Ser225insTer) | microsatellite | X-linked Opitz G/BBB syndrome [RCV002245296] | ChrX:10523174..10523175 [GRCh38] ChrX:10491214..10491215 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.757-10756G>A | single nucleotide variant | not specified [RCV002247977] | ChrX:10506447 [GRCh38] ChrX:10474487 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) | copy number gain | 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] | ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) | copy number loss | Turner syndrome [RCV002280668] | ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-22.2(chrX:168546-11080743)x1 | copy number loss | See cases [RCV002286358] | ChrX:168546..11080743 [GRCh37] ChrX:Xp22.33-22.2 |
pathogenic |
NM_000381.4(MID1):c.1609_1611dup (p.Asp537_Ser538insAsp) | duplication | X-linked Opitz G/BBB syndrome [RCV002291080] | ChrX:10454913..10454914 [GRCh38] ChrX:10422953..10422954 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) | copy number loss | Turner syndrome [RCV002280671] | ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_000381.4(MID1):c.1102C>T (p.Arg368Ter) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV002279783]|not provided [RCV003101603] | ChrX:10474662 [GRCh38] ChrX:10442702 [GRCh37] ChrX:Xp22.2 |
pathogenic|not provided |
NM_000381.4(MID1):c.284A>G (p.Asn95Ser) | single nucleotide variant | Inborn genetic diseases [RCV002435337]|not provided [RCV003669319] | ChrX:10567264 [GRCh38] ChrX:10535304 [GRCh37] ChrX:Xp22.2 |
benign|uncertain significance |
NM_000381.4(MID1):c.1153C>G (p.Pro385Ala) | single nucleotide variant | Inborn genetic diseases [RCV002349339]|not provided [RCV003313272] | ChrX:10469829 [GRCh38] ChrX:10437869 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.979C>T (p.Arg327Cys) | single nucleotide variant | Inborn genetic diseases [RCV002387213] | ChrX:10482514 [GRCh38] ChrX:10450554 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2 | copy number gain | not provided [RCV002474523] | ChrX:2703633..14515021 [GRCh37] ChrX:Xp22.33-22.2 |
pathogenic |
NM_000381.4(MID1):c.1819del (p.Leu607fs) | deletion | not provided [RCV002505987] | ChrX:10449553 [GRCh38] ChrX:10417593 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.556T>A (p.Tyr186Asn) | single nucleotide variant | Inborn genetic diseases [RCV002352058] | ChrX:10566992 [GRCh38] ChrX:10535032 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.2(chrX:10843953-11679385)x3 | copy number gain | not provided [RCV002472426] | ChrX:10843953..11679385 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1415G>A (p.Arg472His) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV003131591] | ChrX:10459678 [GRCh38] ChrX:10427718 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1222G>T (p.Glu408Ter) | single nucleotide variant | Inborn genetic diseases [RCV002361724] | ChrX:10469760 [GRCh38] ChrX:10437800 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1562G>T (p.Arg521Leu) | single nucleotide variant | Inborn genetic diseases [RCV002405452] | ChrX:10454963 [GRCh38] ChrX:10423003 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1410C>T (p.Gly470=) | single nucleotide variant | Inborn genetic diseases [RCV002389496] | ChrX:10459683 [GRCh38] ChrX:10427723 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.304C>T (p.Arg102Trp) | single nucleotide variant | Inborn genetic diseases [RCV002444092] | ChrX:10567244 [GRCh38] ChrX:10535284 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.702C>G (p.Asn234Lys) | single nucleotide variant | Inborn genetic diseases [RCV002364911] | ChrX:10523146 [GRCh38] ChrX:10491186 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1178C>T (p.Thr393Ile) | single nucleotide variant | Inborn genetic diseases [RCV002340056] | ChrX:10469804 [GRCh38] ChrX:10437844 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.417A>G (p.Val139=) | single nucleotide variant | Inborn genetic diseases [RCV002333449] | ChrX:10567131 [GRCh38] ChrX:10535171 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.627G>A (p.Val209=) | single nucleotide variant | not provided [RCV002305905] | ChrX:10566921 [GRCh38] ChrX:10534961 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.453G>A (p.Pro151=) | single nucleotide variant | Inborn genetic diseases [RCV002330316]|not provided [RCV003775916] | ChrX:10567095 [GRCh38] ChrX:10535135 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1835A>G (p.Asn612Ser) | single nucleotide variant | Inborn genetic diseases [RCV002412715]|not provided [RCV003100877] | ChrX:10449537 [GRCh38] ChrX:10417577 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_000381.4(MID1):c.674G>A (p.Ser225Asn) | single nucleotide variant | Inborn genetic diseases [RCV002377960]|not provided [RCV003098360] | ChrX:10523174 [GRCh38] ChrX:10491214 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1047A>T (p.Leu349=) | single nucleotide variant | not provided [RCV002815825] | ChrX:10474717 [GRCh38] ChrX:10442757 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.237A>G (p.Leu79=) | single nucleotide variant | not provided [RCV002615374] | ChrX:10567311 [GRCh38] ChrX:10535351 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_000381.4(MID1):c.1937A>G (p.Lys646Arg) | single nucleotide variant | not provided [RCV002461824] | ChrX:10449435 [GRCh38] ChrX:10417475 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.770G>A (p.Arg257His) | single nucleotide variant | Inborn genetic diseases [RCV002729297] | ChrX:10495678 [GRCh38] ChrX:10463718 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.105C>G (p.His35Gln) | single nucleotide variant | not provided [RCV002734855] | ChrX:10567443 [GRCh38] ChrX:10535483 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1029T>C (p.Thr343=) | single nucleotide variant | not provided [RCV002842250] | ChrX:10474735 [GRCh38] ChrX:10442775 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.387C>T (p.Asp129=) | single nucleotide variant | not provided [RCV002613540] | ChrX:10567161 [GRCh38] ChrX:10535201 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1476T>C (p.Ser492=) | single nucleotide variant | not provided [RCV002819409] | ChrX:10455049 [GRCh38] ChrX:10423089 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1804C>T (p.Arg602Trp) | single nucleotide variant | not provided [RCV002735217] | ChrX:10449568 [GRCh38] ChrX:10417608 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1080C>T (p.Asp360=) | single nucleotide variant | not provided [RCV002592701] | ChrX:10474684 [GRCh38] ChrX:10442724 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1752G>A (p.Trp584Ter) | single nucleotide variant | not provided [RCV002871353] | ChrX:10449620 [GRCh38] ChrX:10417660 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1484G>A (p.Arg495Gln) | single nucleotide variant | Inborn genetic diseases [RCV002848635]|not provided [RCV003777819] | ChrX:10455041 [GRCh38] ChrX:10423081 [GRCh37] ChrX:Xp22.2 |
benign|uncertain significance |
NM_000381.4(MID1):c.1457T>G (p.Phe486Cys) | single nucleotide variant | not provided [RCV003036965] | ChrX:10455068 [GRCh38] ChrX:10423108 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.411T>C (p.Cys137=) | single nucleotide variant | not provided [RCV002592385] | ChrX:10567137 [GRCh38] ChrX:10535177 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1978T>C (p.Leu660=) | single nucleotide variant | not provided [RCV002592700] | ChrX:10449394 [GRCh38] ChrX:10417434 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1896A>C (p.Ala632=) | single nucleotide variant | not provided [RCV002591266] | ChrX:10449476 [GRCh38] ChrX:10417516 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1036T>C (p.Ser346Pro) | single nucleotide variant | not provided [RCV003043453] | ChrX:10474728 [GRCh38] ChrX:10442768 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1425G>C (p.Glu475Asp) | single nucleotide variant | not provided [RCV002871941] | ChrX:10459668 [GRCh38] ChrX:10427708 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1793C>T (p.Ala598Val) | single nucleotide variant | Inborn genetic diseases [RCV002651830]|MID1-related condition [RCV003936634]|not provided [RCV002664342] | ChrX:10449579 [GRCh38] ChrX:10417619 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_000381.4(MID1):c.1613G>C (p.Ser538Thr) | single nucleotide variant | Inborn genetic diseases [RCV003162012]|not provided [RCV002643716] | ChrX:10454912 [GRCh38] ChrX:10422952 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_000381.4(MID1):c.1647A>G (p.Gly549=) | single nucleotide variant | not provided [RCV002642229] | ChrX:10454878 [GRCh38] ChrX:10422918 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1806G>T (p.Arg602=) | single nucleotide variant | not provided [RCV002667901] | ChrX:10449566 [GRCh38] ChrX:10417606 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1425G>A (p.Glu475=) | single nucleotide variant | not provided [RCV002829557] | ChrX:10459668 [GRCh38] ChrX:10427708 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.452C>T (p.Pro151Leu) | single nucleotide variant | not provided [RCV003041422] | ChrX:10567096 [GRCh38] ChrX:10535136 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1858G>T (p.Ala620Ser) | single nucleotide variant | Inborn genetic diseases [RCV002808704] | ChrX:10449514 [GRCh38] ChrX:10417554 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.192C>T (p.Thr64=) | single nucleotide variant | MID1-related condition [RCV003898422]|not provided [RCV002601495] | ChrX:10567356 [GRCh38] ChrX:10535396 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_000381.4(MID1):c.701A>G (p.Asn234Ser) | single nucleotide variant | not provided [RCV003027842] | ChrX:10523147 [GRCh38] ChrX:10491187 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.669dup (p.Glu224fs) | duplication | not provided [RCV002857420] | ChrX:10523178..10523179 [GRCh38] ChrX:10491218..10491219 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1082C>T (p.Thr361Ile) | single nucleotide variant | not provided [RCV002603959] | ChrX:10474682 [GRCh38] ChrX:10442722 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1447+18A>T | single nucleotide variant | not provided [RCV002589944] | ChrX:10459628 [GRCh38] ChrX:10427668 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.339C>T (p.Ser113=) | single nucleotide variant | not provided [RCV002634956] | ChrX:10567209 [GRCh38] ChrX:10535249 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1893C>T (p.Val631=) | single nucleotide variant | not provided [RCV002680670] | ChrX:10449479 [GRCh38] ChrX:10417519 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.693T>G (p.Ile231Met) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV003132650] | ChrX:10523155 [GRCh38] ChrX:10491195 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1841C>T (p.Ser614Phe) | single nucleotide variant | not provided [RCV003435987]|not specified [RCV003155790] | ChrX:10449531 [GRCh38] ChrX:10417571 [GRCh37] ChrX:Xp22.2 |
likely benign|uncertain significance |
NM_000381.4(MID1):c.977C>T (p.Ala326Val) | single nucleotide variant | Inborn genetic diseases [RCV003256517] | ChrX:10482516 [GRCh38] ChrX:10450556 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1553C>G (p.Thr518Arg) | single nucleotide variant | not provided [RCV003229180] | ChrX:10454972 [GRCh38] ChrX:10423012 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.849G>C (p.Lys283Asn) | single nucleotide variant | X-linked Opitz G/BBB syndrome [RCV003225822] | ChrX:10495599 [GRCh38] ChrX:10463639 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1798del (p.His600fs) | deletion | X-linked Opitz G/BBB syndrome [RCV003151702] | ChrX:10449574 [GRCh38] ChrX:10417614 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.329C>T (p.Thr110Ile) | single nucleotide variant | not provided [RCV003225549] | ChrX:10567219 [GRCh38] ChrX:10535259 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1586G>C (p.Gly529Ala) | single nucleotide variant | Inborn genetic diseases [RCV003200686]|not provided [RCV003720801] | ChrX:10454939 [GRCh38] ChrX:10422979 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.448C>T (p.His150Tyr) | single nucleotide variant | not provided [RCV003228317] | ChrX:10567100 [GRCh38] ChrX:10535140 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.203G>A (p.Arg68Gln) | single nucleotide variant | not provided [RCV003319800] | ChrX:10567345 [GRCh38] ChrX:10535385 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.872G>C (p.Arg291Thr) | single nucleotide variant | not provided [RCV003319700] | ChrX:10482621 [GRCh38] ChrX:10450661 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1308C>T (p.Ser436=) | single nucleotide variant | not provided [RCV003873096] | ChrX:10459785 [GRCh38] ChrX:10427825 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1983C>T (p.Asp661=) | single nucleotide variant | not provided [RCV003873631] | ChrX:10449389 [GRCh38] ChrX:10417429 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1447+20C>T | single nucleotide variant | not provided [RCV003875368] | ChrX:10459626 [GRCh38] ChrX:10427666 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1359G>A (p.Leu453=) | single nucleotide variant | not provided [RCV003571590] | ChrX:10459734 [GRCh38] ChrX:10427774 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1067A>G (p.Asn356Ser) | single nucleotide variant | not provided [RCV003874502] | ChrX:10474697 [GRCh38] ChrX:10442737 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1464G>A (p.Leu488=) | single nucleotide variant | not provided [RCV003543160] | ChrX:10455061 [GRCh38] ChrX:10423101 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.101C>A (p.Ala34Asp) | single nucleotide variant | MID1-related condition [RCV003391417] | ChrX:10567447 [GRCh38] ChrX:10535487 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 | copy number loss | not provided [RCV003483407] | ChrX:2696762..53113314 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp22.2(chrX:10732906-10944154)x3 | copy number gain | not provided [RCV003485275] | ChrX:10732906..10944154 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.2(chrX:10843953-11025900)x3 | copy number gain | not provided [RCV003485276] | ChrX:10843953..11025900 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2 | copy number gain | not provided [RCV003483939] | ChrX:168547..30774453 [GRCh37] ChrX:Xp22.33-21.2 |
pathogenic |
NM_000381.4(MID1):c.757-5746C>T | single nucleotide variant | not provided [RCV003440965] | ChrX:10501437 [GRCh38] ChrX:10469477 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1538_1605dup (p.Ile536delinsProArgArgValThrHisLeuAsnAlaSerProAlaArgGlyAlaMetGluTer) | duplication | MID1-related condition [RCV003391629] | ChrX:10454919..10454920 [GRCh38] ChrX:10422959..10422960 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.757-5721del | deletion | not provided [RCV003443582] | ChrX:10501412 [GRCh38] ChrX:10469452 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.446C>G (p.Thr149Ser) | single nucleotide variant | not provided [RCV003440967] | ChrX:10567102 [GRCh38] ChrX:10535142 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.275G>A (p.Ser92Asn) | single nucleotide variant | not provided [RCV003440968] | ChrX:10567273 [GRCh38] ChrX:10535313 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.571G>A (p.Asp191Asn) | single nucleotide variant | MID1-related condition [RCV003410773] | ChrX:10566977 [GRCh38] ChrX:10535017 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1785T>G (p.Ile595Met) | single nucleotide variant | not provided [RCV003440963] | ChrX:10449587 [GRCh38] ChrX:10417627 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1337A>T (p.Asn446Ile) | single nucleotide variant | not provided [RCV003440964] | ChrX:10459756 [GRCh38] ChrX:10427796 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.661-9_661-7dup | duplication | not provided [RCV003440966] | ChrX:10523193..10523194 [GRCh38] ChrX:10491233..10491234 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1986C>T (p.Cys662=) | single nucleotide variant | not provided [RCV003696335] | ChrX:10449386 [GRCh38] ChrX:10417426 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.435C>T (p.Cys145=) | single nucleotide variant | not provided [RCV003831684] | ChrX:10567113 [GRCh38] ChrX:10535153 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1350G>A (p.Val450=) | single nucleotide variant | not provided [RCV003696493] | ChrX:10459743 [GRCh38] ChrX:10427783 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1943dup (p.Thr649fs) | duplication | not provided [RCV003694404] | ChrX:10449428..10449429 [GRCh38] ChrX:10417468..10417469 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.1448-20T>G | single nucleotide variant | not provided [RCV003828435] | ChrX:10455097 [GRCh38] ChrX:10423137 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1008C>T (p.Thr336=) | single nucleotide variant | not provided [RCV003740138] | ChrX:10482485 [GRCh38] ChrX:10450525 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.264A>G (p.Lys88=) | single nucleotide variant | not provided [RCV003661950] | ChrX:10567284 [GRCh38] ChrX:10535324 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.159C>T (p.Ala53=) | single nucleotide variant | not provided [RCV003695012] | ChrX:10567389 [GRCh38] ChrX:10535429 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1731C>G (p.Leu577=) | single nucleotide variant | not provided [RCV003547846] | ChrX:10449641 [GRCh38] ChrX:10417681 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.780C>T (p.Ala260=) | single nucleotide variant | not provided [RCV003696490] | ChrX:10495668 [GRCh38] ChrX:10463708 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1013+20G>A | single nucleotide variant | not provided [RCV003714305] | ChrX:10482460 [GRCh38] ChrX:10450500 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.186C>T (p.Val62=) | single nucleotide variant | not provided [RCV003694287] | ChrX:10567362 [GRCh38] ChrX:10535402 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.321C>T (p.Asp107=) | single nucleotide variant | not provided [RCV003661956] | ChrX:10567227 [GRCh38] ChrX:10535267 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.840T>C (p.Ile280=) | single nucleotide variant | not provided [RCV003716087] | ChrX:10495608 [GRCh38] ChrX:10463648 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1083C>A (p.Thr361=) | single nucleotide variant | not provided [RCV003879609] | ChrX:10474681 [GRCh38] ChrX:10442721 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.567C>G (p.Thr189=) | single nucleotide variant | not provided [RCV003876165] | ChrX:10566981 [GRCh38] ChrX:10535021 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.723G>A (p.Leu241=) | single nucleotide variant | not provided [RCV003574424] | ChrX:10523125 [GRCh38] ChrX:10491165 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1045C>T (p.Leu349=) | single nucleotide variant | not provided [RCV003691854] | ChrX:10474719 [GRCh38] ChrX:10442759 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1656-4G>C | single nucleotide variant | not provided [RCV003544494] | ChrX:10449720 [GRCh38] ChrX:10417760 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.759C>T (p.Val253=) | single nucleotide variant | not provided [RCV003877924] | ChrX:10495689 [GRCh38] ChrX:10463729 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1128G>C (p.Leu376=) | single nucleotide variant | not provided [RCV003572120] | ChrX:10474636 [GRCh38] ChrX:10442676 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.282C>T (p.Pro94=) | single nucleotide variant | not provided [RCV003687896] | ChrX:10567266 [GRCh38] ChrX:10535306 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.921G>A (p.Glu307=) | single nucleotide variant | not provided [RCV003689338] | ChrX:10482572 [GRCh38] ChrX:10450612 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1758G>A (p.Val586=) | single nucleotide variant | not provided [RCV003573483] | ChrX:10449614 [GRCh38] ChrX:10417654 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1149C>T (p.Asn383=) | single nucleotide variant | not provided [RCV003659718] | ChrX:10469833 [GRCh38] ChrX:10437873 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.645C>A (p.Arg215=) | single nucleotide variant | not provided [RCV003544748] | ChrX:10566903 [GRCh38] ChrX:10534943 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.778G>A (p.Ala260Thr) | single nucleotide variant | not provided [RCV003549113]|not specified [RCV003490883] | ChrX:10495670 [GRCh38] ChrX:10463710 [GRCh37] ChrX:Xp22.2 |
benign|uncertain significance |
NM_000381.4(MID1):c.135C>T (p.Asn45=) | single nucleotide variant | not provided [RCV003828958] | ChrX:10567413 [GRCh38] ChrX:10535453 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1791T>C (p.Pro597=) | single nucleotide variant | not provided [RCV003715607] | ChrX:10449581 [GRCh38] ChrX:10417621 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1539C>T (p.Ser513=) | single nucleotide variant | not provided [RCV003878807] | ChrX:10454986 [GRCh38] ChrX:10423026 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1943T>C (p.Leu648Pro) | single nucleotide variant | not provided [RCV003694824] | ChrX:10449429 [GRCh38] ChrX:10417469 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.1887C>T (p.Phe629=) | single nucleotide variant | not provided [RCV003662420] | ChrX:10449485 [GRCh38] ChrX:10417525 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1656-4G>A | single nucleotide variant | not provided [RCV003693989] | ChrX:10449720 [GRCh38] ChrX:10417760 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1656-20T>C | single nucleotide variant | not provided [RCV003716618] | ChrX:10449736 [GRCh38] ChrX:10417776 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.430G>A (p.Glu144Lys) | single nucleotide variant | not provided [RCV003825122] | ChrX:10567118 [GRCh38] ChrX:10535158 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.865-27TC[3] | microsatellite | not provided [RCV003692866] | ChrX:10482648..10482649 [GRCh38] ChrX:10450688..10450689 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1462C>T (p.Leu488=) | single nucleotide variant | not provided [RCV003662674] | ChrX:10455063 [GRCh38] ChrX:10423103 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.891G>A (p.Gln297=) | single nucleotide variant | not provided [RCV003661387] | ChrX:10482602 [GRCh38] ChrX:10450642 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.864+9T>C | single nucleotide variant | not provided [RCV003546415] | ChrX:10495575 [GRCh38] ChrX:10463615 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.552T>G (p.Asn184Lys) | single nucleotide variant | not provided [RCV003693166] | ChrX:10566996 [GRCh38] ChrX:10535036 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.277G>A (p.Gly93Arg) | single nucleotide variant | not provided [RCV003824799] | ChrX:10567271 [GRCh38] ChrX:10535311 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.757-17T>C | single nucleotide variant | not provided [RCV003695435] | ChrX:10495708 [GRCh38] ChrX:10463748 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1890C>G (p.Asp630Glu) | single nucleotide variant | not provided [RCV003688431] | ChrX:10449482 [GRCh38] ChrX:10417522 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.679C>T (p.Leu227Phe) | single nucleotide variant | not provided [RCV003882065] | ChrX:10523169 [GRCh38] ChrX:10491209 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.936C>T (p.Leu312=) | single nucleotide variant | not provided [RCV003663342] | ChrX:10482557 [GRCh38] ChrX:10450597 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.202C>T (p.Arg68Ter) | single nucleotide variant | not provided [RCV003661728] | ChrX:10567346 [GRCh38] ChrX:10535386 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1326C>T (p.Asn442=) | single nucleotide variant | not provided [RCV003544834] | ChrX:10459767 [GRCh38] ChrX:10427807 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.660+13C>A | single nucleotide variant | not provided [RCV003575571] | ChrX:10566875 [GRCh38] ChrX:10534915 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.660+12C>G | single nucleotide variant | not provided [RCV003692384] | ChrX:10566876 [GRCh38] ChrX:10534916 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1647A>T (p.Gly549=) | single nucleotide variant | not provided [RCV003826763] | ChrX:10454878 [GRCh38] ChrX:10422918 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1809C>T (p.Arg603=) | single nucleotide variant | not provided [RCV003880000] | ChrX:10449563 [GRCh38] ChrX:10417603 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.624G>A (p.Gln208=) | single nucleotide variant | not provided [RCV003852231] | ChrX:10566924 [GRCh38] ChrX:10534964 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1323C>T (p.Pro441=) | single nucleotide variant | not provided [RCV003699855] | ChrX:10459770 [GRCh38] ChrX:10427810 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.660+14G>A | single nucleotide variant | not provided [RCV003833888] | ChrX:10566874 [GRCh38] ChrX:10534914 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.852C>A (p.Ile284=) | single nucleotide variant | not provided [RCV003580724] | ChrX:10495596 [GRCh38] ChrX:10463636 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.429C>T (p.Asp143=) | single nucleotide variant | not provided [RCV003659312] | ChrX:10567119 [GRCh38] ChrX:10535159 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.660+13C>T | single nucleotide variant | not provided [RCV003851743] | ChrX:10566875 [GRCh38] ChrX:10534915 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.102C>T (p.Ala34=) | single nucleotide variant | not provided [RCV003659497] | ChrX:10567446 [GRCh38] ChrX:10535486 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1095T>C (p.Asp365=) | single nucleotide variant | not provided [RCV003697461] | ChrX:10474669 [GRCh38] ChrX:10442709 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1434G>A (p.Lys478=) | single nucleotide variant | not provided [RCV003664158] | ChrX:10459659 [GRCh38] ChrX:10427699 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1206T>C (p.His402=) | single nucleotide variant | not provided [RCV003548792] | ChrX:10469776 [GRCh38] ChrX:10437816 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1617C>G (p.Gly539=) | single nucleotide variant | not provided [RCV003699828] | ChrX:10454908 [GRCh38] ChrX:10422948 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.63T>G (p.Leu21=) | single nucleotide variant | not provided [RCV003726622] | ChrX:10567485 [GRCh38] ChrX:10535525 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.927A>G (p.Ser309=) | single nucleotide variant | not provided [RCV003674230] | ChrX:10482566 [GRCh38] ChrX:10450606 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1881C>T (p.Tyr627=) | single nucleotide variant | not provided [RCV003718008] | ChrX:10449491 [GRCh38] ChrX:10417531 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1746T>C (p.Asn582=) | single nucleotide variant | not provided [RCV003817120] | ChrX:10449626 [GRCh38] ChrX:10417666 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1716T>C (p.Ser572=) | single nucleotide variant | not provided [RCV003580730] | ChrX:10449656 [GRCh38] ChrX:10417696 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1218T>C (p.Asp406=) | single nucleotide variant | not provided [RCV003701709] | ChrX:10469764 [GRCh38] ChrX:10437804 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.156C>T (p.Thr52=) | single nucleotide variant | not provided [RCV003833544] | ChrX:10567392 [GRCh38] ChrX:10535432 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.686A>G (p.Asn229Ser) | single nucleotide variant | not provided [RCV003717627] | ChrX:10523162 [GRCh38] ChrX:10491202 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.757-18A>T | single nucleotide variant | not provided [RCV003816195] | ChrX:10495709 [GRCh38] ChrX:10463749 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.607C>T (p.Arg203Trp) | single nucleotide variant | not provided [RCV003697606] | ChrX:10566941 [GRCh38] ChrX:10534981 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1212C>T (p.Thr404=) | single nucleotide variant | not provided [RCV003725963] | ChrX:10469770 [GRCh38] ChrX:10437810 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1989A>G (p.Thr663=) | single nucleotide variant | not provided [RCV003700920] | ChrX:10449383 [GRCh38] ChrX:10417423 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1013+8C>A | single nucleotide variant | not provided [RCV003671706] | ChrX:10482472 [GRCh38] ChrX:10450512 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1142-17A>G | single nucleotide variant | not provided [RCV003561570] | ChrX:10469857 [GRCh38] ChrX:10437897 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1655+15_1655+20del | deletion | not provided [RCV003700787] | ChrX:10454850..10454855 [GRCh38] ChrX:10422890..10422895 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1278C>T (p.Asn426=) | single nucleotide variant | not provided [RCV003832347] | ChrX:10469704 [GRCh38] ChrX:10437744 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1845C>T (p.Ile615=) | single nucleotide variant | not provided [RCV003837962] | ChrX:10449527 [GRCh38] ChrX:10417567 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.865-14_865-12del | deletion | not provided [RCV003854929] | ChrX:10482640..10482642 [GRCh38] ChrX:10450680..10450682 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1448-23_1448-18dup | duplication | not provided [RCV003700428] | ChrX:10455094..10455095 [GRCh38] ChrX:10423134..10423135 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1285+12A>G | single nucleotide variant | not provided [RCV003665307] | ChrX:10469685 [GRCh38] ChrX:10437725 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1656-5C>T | single nucleotide variant | not provided [RCV003850266] | ChrX:10449721 [GRCh38] ChrX:10417761 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.757-18A>G | single nucleotide variant | not provided [RCV003670051] | ChrX:10495709 [GRCh38] ChrX:10463749 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.123C>T (p.His41=) | single nucleotide variant | not provided [RCV003702253] | ChrX:10567425 [GRCh38] ChrX:10535465 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1191C>T (p.Asp397=) | single nucleotide variant | not provided [RCV003699303] | ChrX:10469791 [GRCh38] ChrX:10437831 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.285C>T (p.Asn95=) | single nucleotide variant | not provided [RCV003811679] | ChrX:10567263 [GRCh38] ChrX:10535303 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1266C>G (p.Thr422=) | single nucleotide variant | not provided [RCV003723398] | ChrX:10469716 [GRCh38] ChrX:10437756 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1703T>C (p.Ile568Thr) | single nucleotide variant | not provided [RCV003560192] | ChrX:10449669 [GRCh38] ChrX:10417709 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1435T>C (p.Leu479=) | single nucleotide variant | not provided [RCV003811661] | ChrX:10459658 [GRCh38] ChrX:10427698 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.100G>A (p.Ala34Thr) | single nucleotide variant | MID1-related condition [RCV003901316]|not provided [RCV003725138] | ChrX:10567448 [GRCh38] ChrX:10535488 [GRCh37] ChrX:Xp22.2 |
benign|likely benign |
NM_000381.4(MID1):c.420C>T (p.Ser140=) | single nucleotide variant | not provided [RCV003559548] | ChrX:10567128 [GRCh38] ChrX:10535168 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.228C>T (p.Asn76=) | single nucleotide variant | not provided [RCV003666603] | ChrX:10567320 [GRCh38] ChrX:10535360 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.660+8C>G | single nucleotide variant | not provided [RCV003702424] | ChrX:10566880 [GRCh38] ChrX:10534920 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1285+13T>C | single nucleotide variant | not provided [RCV003834492] | ChrX:10469684 [GRCh38] ChrX:10437724 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.660+9G>A | single nucleotide variant | not provided [RCV003814725] | ChrX:10566879 [GRCh38] ChrX:10534919 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1443A>C (p.Thr481=) | single nucleotide variant | not provided [RCV003717507] | ChrX:10459650 [GRCh38] ChrX:10427690 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.60T>A (p.Pro20=) | single nucleotide variant | not provided [RCV003861408] | ChrX:10567488 [GRCh38] ChrX:10535528 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1848C>A (p.Ala616=) | single nucleotide variant | MID1-related condition [RCV003901289]|not provided [RCV003707232] | ChrX:10449524 [GRCh38] ChrX:10417564 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1141+13A>G | single nucleotide variant | not provided [RCV003566223] | ChrX:10474610 [GRCh38] ChrX:10442650 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.843A>G (p.Gly281=) | single nucleotide variant | not provided [RCV003710226] | ChrX:10495605 [GRCh38] ChrX:10463645 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1448-16_1448-7dup | duplication | not provided [RCV003708379] | ChrX:10455083..10455084 [GRCh38] ChrX:10423123..10423124 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1014-13G>T | single nucleotide variant | not provided [RCV003860760] | ChrX:10474763 [GRCh38] ChrX:10442803 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.922C>T (p.Arg308Trp) | single nucleotide variant | not provided [RCV003727399] | ChrX:10482571 [GRCh38] ChrX:10450611 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.519G>A (p.Leu173=) | single nucleotide variant | not provided [RCV003736235] | ChrX:10567029 [GRCh38] ChrX:10535069 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1551C>T (p.His517=) | single nucleotide variant | not provided [RCV003861859] | ChrX:10454974 [GRCh38] ChrX:10423014 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1200T>C (p.Thr400=) | single nucleotide variant | not provided [RCV003863102] | ChrX:10469782 [GRCh38] ChrX:10437822 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1884C>T (p.Thr628=) | single nucleotide variant | not provided [RCV003730015] | ChrX:10449488 [GRCh38] ChrX:10417528 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.865-9_865-8del | deletion | not provided [RCV003704480] | ChrX:10482636..10482637 [GRCh38] ChrX:10450676..10450677 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1286-20A>G | single nucleotide variant | not provided [RCV003860100] | ChrX:10459827 [GRCh38] ChrX:10427867 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.213C>T (p.Asp71=) | single nucleotide variant | not provided [RCV003843804] | ChrX:10567335 [GRCh38] ChrX:10535375 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1290G>A (p.Leu430=) | single nucleotide variant | not provided [RCV003553185] | ChrX:10459803 [GRCh38] ChrX:10427843 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.622C>T (p.Gln208Ter) | single nucleotide variant | not provided [RCV003677323] | ChrX:10566926 [GRCh38] ChrX:10534966 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.1870A>G (p.Ile624Val) | single nucleotide variant | not provided [RCV003568199] | ChrX:10449502 [GRCh38] ChrX:10417542 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1014-20T>C | single nucleotide variant | not provided [RCV003864417] | ChrX:10474770 [GRCh38] ChrX:10442810 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1553C>T (p.Thr518Ile) | single nucleotide variant | not provided [RCV003563277] | ChrX:10454972 [GRCh38] ChrX:10423012 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1854T>C (p.Tyr618=) | single nucleotide variant | not provided [RCV003709888] | ChrX:10449518 [GRCh38] ChrX:10417558 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.305G>A (p.Arg102Gln) | single nucleotide variant | not provided [RCV003733237] | ChrX:10567243 [GRCh38] ChrX:10535283 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1374G>A (p.Lys458=) | single nucleotide variant | not provided [RCV003704642] | ChrX:10459719 [GRCh38] ChrX:10427759 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.189C>T (p.Ile63=) | single nucleotide variant | not provided [RCV003676688] | ChrX:10567359 [GRCh38] ChrX:10535399 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1926C>T (p.Thr642=) | single nucleotide variant | not provided [RCV003707307] | ChrX:10449446 [GRCh38] ChrX:10417486 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.561T>C (p.Cys187=) | single nucleotide variant | not provided [RCV003707604] | ChrX:10566987 [GRCh38] ChrX:10535027 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1346C>T (p.Thr449Met) | single nucleotide variant | not provided [RCV003863292] | ChrX:10459747 [GRCh38] ChrX:10427787 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1353C>T (p.His451=) | single nucleotide variant | not provided [RCV003728290] | ChrX:10459740 [GRCh38] ChrX:10427780 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1047A>G (p.Leu349=) | single nucleotide variant | not provided [RCV003822317] | ChrX:10474717 [GRCh38] ChrX:10442757 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.882A>G (p.Lys294=) | single nucleotide variant | not provided [RCV003567271] | ChrX:10482611 [GRCh38] ChrX:10450651 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.762T>C (p.Asn254=) | single nucleotide variant | not provided [RCV003676372] | ChrX:10495686 [GRCh38] ChrX:10463726 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1836C>T (p.Asn612=) | single nucleotide variant | not provided [RCV003858200] | ChrX:10449536 [GRCh38] ChrX:10417576 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1728G>A (p.Ala576=) | single nucleotide variant | not provided [RCV003722618] | ChrX:10449644 [GRCh38] ChrX:10417684 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.162C>T (p.Phe54=) | single nucleotide variant | MID1-related condition [RCV003956613]|not provided [RCV003860054] | ChrX:10567386 [GRCh38] ChrX:10535426 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.799G>A (p.Asp267Asn) | single nucleotide variant | not provided [RCV003728570] | ChrX:10495649 [GRCh38] ChrX:10463689 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.1365C>T (p.Ser455=) | single nucleotide variant | not provided [RCV003843900] | ChrX:10459728 [GRCh38] ChrX:10427768 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1370C>T (p.Thr457Ile) | single nucleotide variant | not provided [RCV003712458] | ChrX:10459723 [GRCh38] ChrX:10427763 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.717C>T (p.Thr239=) | single nucleotide variant | not provided [RCV003684850] | ChrX:10523131 [GRCh38] ChrX:10491171 [GRCh37] ChrX:Xp22.2 |
likely benign |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) | copy number loss | not specified [RCV003986240] | ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
NM_000381.4(MID1):c.1638C>T (p.Val546=) | single nucleotide variant | not provided [RCV003551177] | ChrX:10454887 [GRCh38] ChrX:10422927 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.438G>A (p.Leu146=) | single nucleotide variant | not provided [RCV003848222] | ChrX:10567110 [GRCh38] ChrX:10535150 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1470C>T (p.Pro490=) | single nucleotide variant | not provided [RCV003681681] | ChrX:10455055 [GRCh38] ChrX:10423095 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1347G>A (p.Thr449=) | single nucleotide variant | not provided [RCV003552987] | ChrX:10459746 [GRCh38] ChrX:10427786 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1014A>G (p.Arg338=) | single nucleotide variant | not provided [RCV003707449] | ChrX:10474750 [GRCh38] ChrX:10442790 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) | copy number loss | not specified [RCV003986200] | ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.31-22.2(chrX:6759774-10831816) | copy number loss | not specified [RCV003986234] | ChrX:6759774..10831816 [GRCh37] ChrX:Xp22.31-22.2 |
pathogenic |
NM_000381.4(MID1):c.1239C>T (p.Ser413=) | single nucleotide variant | not provided [RCV003868366] | ChrX:10469743 [GRCh38] ChrX:10437783 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1452A>G (p.Gln484=) | single nucleotide variant | not provided [RCV003840762] | ChrX:10455073 [GRCh38] ChrX:10423113 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1014-9G>C | single nucleotide variant | not provided [RCV003861619] | ChrX:10474759 [GRCh38] ChrX:10442799 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1350G>T (p.Val450=) | single nucleotide variant | not provided [RCV003706897] | ChrX:10459743 [GRCh38] ChrX:10427783 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.757-6C>T | single nucleotide variant | not provided [RCV003721636] | ChrX:10495697 [GRCh38] ChrX:10463737 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1680A>G (p.Lys560=) | single nucleotide variant | not provided [RCV003868955] | ChrX:10449692 [GRCh38] ChrX:10417732 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.660+8C>T | single nucleotide variant | not provided [RCV003841115] | ChrX:10566880 [GRCh38] ChrX:10534920 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1286-13_1286-10dup | duplication | not provided [RCV003820273] | ChrX:10459816..10459817 [GRCh38] ChrX:10427856..10427857 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1689G>A (p.Pro563=) | single nucleotide variant | not provided [RCV003708938] | ChrX:10449683 [GRCh38] ChrX:10417723 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.774A>G (p.Gln258=) | single nucleotide variant | not provided [RCV003842872] | ChrX:10495674 [GRCh38] ChrX:10463714 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1227C>T (p.Phe409=) | single nucleotide variant | not provided [RCV003675501] | ChrX:10469755 [GRCh38] ChrX:10437795 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1449C>T (p.Ser483=) | single nucleotide variant | not provided [RCV003682233] | ChrX:10455076 [GRCh38] ChrX:10423116 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1014-8C>T | single nucleotide variant | not provided [RCV003709974] | ChrX:10474758 [GRCh38] ChrX:10442798 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1447+18A>G | single nucleotide variant | not provided [RCV003567120] | ChrX:10459628 [GRCh38] ChrX:10427668 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.134A>G (p.Asn45Ser) | single nucleotide variant | not provided [RCV003862131] | ChrX:10567414 [GRCh38] ChrX:10535454 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.1773G>A (p.Lys591=) | single nucleotide variant | not provided [RCV003730870] | ChrX:10449599 [GRCh38] ChrX:10417639 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1902G>A (p.Ala634=) | single nucleotide variant | not provided [RCV003847852] | ChrX:10449470 [GRCh38] ChrX:10417510 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1983C>G (p.Asp661Glu) | single nucleotide variant | not provided [RCV003728430] | ChrX:10449389 [GRCh38] ChrX:10417429 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.759C>A (p.Val253=) | single nucleotide variant | not provided [RCV003857018] | ChrX:10495689 [GRCh38] ChrX:10463729 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1013+12G>A | single nucleotide variant | not provided [RCV003862599] | ChrX:10482468 [GRCh38] ChrX:10450508 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1953C>T (p.Ile651=) | single nucleotide variant | MID1-related condition [RCV003901318]|not provided [RCV003732668] | ChrX:10449419 [GRCh38] ChrX:10417459 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1448-22_1448-17del | deletion | not provided [RCV003566772] | ChrX:10455094..10455099 [GRCh38] ChrX:10423134..10423139 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1013+13G>T | single nucleotide variant | not provided [RCV003864539] | ChrX:10482467 [GRCh38] ChrX:10450507 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1142-13T>A | single nucleotide variant | not provided [RCV003823025] | ChrX:10469853 [GRCh38] ChrX:10437893 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.781A>T (p.Lys261Ter) | single nucleotide variant | not provided [RCV003564005] | ChrX:10495667 [GRCh38] ChrX:10463707 [GRCh37] ChrX:Xp22.2 |
pathogenic |
NM_000381.4(MID1):c.66A>G (p.Leu22=) | single nucleotide variant | not provided [RCV003732996] | ChrX:10567482 [GRCh38] ChrX:10535522 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1215C>T (p.Ser405=) | single nucleotide variant | not provided [RCV003675145] | ChrX:10469767 [GRCh38] ChrX:10437807 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.784T>C (p.Leu262=) | single nucleotide variant | not provided [RCV003823476] | ChrX:10495664 [GRCh38] ChrX:10463704 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.354C>G (p.Leu118=) | single nucleotide variant | not provided [RCV003845290] | ChrX:10567194 [GRCh38] ChrX:10535234 [GRCh37] ChrX:Xp22.2 |
likely benign |
NM_000381.4(MID1):c.1446C>T (p.Asn482=) | single nucleotide variant | not provided [RCV003857588] | ChrX:10459647 [GRCh38] ChrX:10427687 [GRCh37] ChrX:Xp22.2 |
benign |
NM_000381.4(MID1):c.864+5G>A | single nucleotide variant | not provided [RCV003841383] | ChrX:10495579 [GRCh38] ChrX:10463619 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.401G>A (p.Cys134Tyr) | single nucleotide variant | not provided [RCV003887354] | ChrX:10567147 [GRCh38] ChrX:10535187 [GRCh37] ChrX:Xp22.2 |
likely pathogenic |
NM_000381.4(MID1):c.875T>C (p.Leu292Pro) | single nucleotide variant | MID1-related condition [RCV003981436] | ChrX:10482618 [GRCh38] ChrX:10450658 [GRCh37] ChrX:Xp22.2 |
uncertain significance |
NM_000381.4(MID1):c.757-10802C>T | single nucleotide variant | MID1-related condition [RCV003914001] | ChrX:10506493 [GRCh38] ChrX:10474533 [GRCh37] ChrX:Xp22.2 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RH67856 |
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RH18198 |
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RH65583 |
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RH65878 |
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DXS7713 |
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RH99148 |
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AF003639 |
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AF003649 |
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AF003650 |
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AF003652 |
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AF003662 |
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AF003663 |
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AF003670 |
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AF003673 |
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AF003674 |
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AF003675 |
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AF003676 |
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AF003677 |
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AF003682 |
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AF003683 |
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AF003684 |
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AF003686 |
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AF003689 |
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DXS1438 |
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DXS7916 |
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UniSTS:99542 |
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SHGC-83251 |
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SHGC-84226 |
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RH120215 |
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STS-AA026423 |
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PMC15848P1 |
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MID1__6312 |
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A004G38 |
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HSC1ZH102 |
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SHGC-36657 |
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MID1 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | |
High | |||||||||||||||||
Medium | 739 | 421 | 145 | 47 | 40 | 44 | 434 | 70 | 535 | 188 | 493 | 456 | 15 | 79 | 127 | ||
Low | 1687 | 1780 | 1557 | 557 | 611 | 402 | 3375 | 1549 | 3166 | 224 | 953 | 1149 | 158 | 1 | 1125 | 2117 | 4 |
Below cutoff | 5 | 728 | 24 | 18 | 1198 | 19 | 546 | 574 | 31 | 7 | 8 | 4 | 1 | 544 |
RefSeq Transcripts | NG_008197 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_000381 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001098624 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001193277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001193278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001193279 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001193280 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001347733 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_033289 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_033290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC002349 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC003657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC008008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC073529 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC117406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF035360 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF041206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF041208 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF041210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF230976 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF230977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF269101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI371111 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK025187 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK226104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK291215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK297205 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK299061 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY112900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY112901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY112903 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539963 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539964 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539969 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539971 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539972 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539973 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539974 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539975 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539976 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539978 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539982 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539986 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539988 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539991 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539995 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539996 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539998 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY539999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540000 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540015 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540017 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540018 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540022 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540023 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY540024 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY660577 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY660578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY660579 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC053626 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA435613 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA856308 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC309977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC369426 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF217423 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF217424 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF217425 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF217426 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF532594 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF532595 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF532596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KC877957 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KC877965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF510158 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U96409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y13667 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000317552 ⟹ ENSP00000312678 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000380779 ⟹ ENSP00000370156 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000380780 ⟹ ENSP00000370157 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000380782 ⟹ ENSP00000370159 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000380785 ⟹ ENSP00000370162 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000380787 ⟹ ENSP00000370164 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000413894 ⟹ ENSP00000391154 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000453318 ⟹ ENSP00000414521 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000479925 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000610939 ⟹ ENSP00000483707 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000616003 ⟹ ENSP00000484712 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000674917 ⟹ ENSP00000502171 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000675073 ⟹ ENSP00000501707 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000675358 ⟹ ENSP00000502220 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000686012 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000687008 ⟹ ENSP00000508734 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000689180 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000689773 ⟹ ENSP00000509925 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000689988 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000690004 ⟹ ENSP00000509730 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000691913 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000691943 ⟹ ENSP00000508663 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000693721 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000707197 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000707198 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_000381 ⟹ NP_000372 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001098624 ⟹ NP_001092094 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001193277 ⟹ NP_001180206 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001193278 ⟹ NP_001180207 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001193279 ⟹ NP_001180208 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001193280 ⟹ NP_001180209 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001347733 ⟹ NP_001334662 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_033289 ⟹ NP_150631 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_033290 ⟹ NP_150632 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_000372 | (Get FASTA) | NCBI Sequence Viewer |
NP_001092094 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001180206 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001180207 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001180208 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001180209 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001334662 | (Get FASTA) | NCBI Sequence Viewer | |
NP_150631 | (Get FASTA) | NCBI Sequence Viewer | |
NP_150632 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB99951 | (Get FASTA) | NCBI Sequence Viewer |
AAC32998 | (Get FASTA) | NCBI Sequence Viewer | |
AAC33000 | (Get FASTA) | NCBI Sequence Viewer | |
AAC33002 | (Get FASTA) | NCBI Sequence Viewer | |
AAG33130 | (Get FASTA) | NCBI Sequence Viewer | |
AAG50191 | (Get FASTA) | NCBI Sequence Viewer | |
AAG50192 | (Get FASTA) | NCBI Sequence Viewer | |
AAH53626 | (Get FASTA) | NCBI Sequence Viewer | |
BAF83904 | (Get FASTA) | NCBI Sequence Viewer | |
BAG37559 | (Get FASTA) | NCBI Sequence Viewer | |
BAG59690 | (Get FASTA) | NCBI Sequence Viewer | |
BAH12942 | (Get FASTA) | NCBI Sequence Viewer | |
CAA74018 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98779 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98780 | (Get FASTA) | NCBI Sequence Viewer | |
EAW98781 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000312678 | ||
ENSP00000312678.4 | |||
ENSP00000370156 | |||
ENSP00000370156.1 | |||
ENSP00000370157 | |||
ENSP00000370157.1 | |||
ENSP00000370159.1 | |||
ENSP00000370162.1 | |||
ENSP00000370164 | |||
ENSP00000370164.1 | |||
ENSP00000391154.1 | |||
ENSP00000391154.2 | |||
ENSP00000414521 | |||
ENSP00000414521.2 | |||
ENSP00000484712 | |||
ENSP00000484712.1 | |||
ENSP00000501707.1 | |||
ENSP00000502171.1 | |||
ENSP00000502220.1 | |||
ENSP00000508663.1 | |||
ENSP00000508734 | |||
ENSP00000508734.1 | |||
ENSP00000509730 | |||
ENSP00000509730.1 | |||
ENSP00000509925.1 | |||
GenBank Protein | O15344 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_150632 ⟸ NM_033290 |
- Peptide Label: | isoform 1 |
- UniProtKB: | O75361 (UniProtKB/Swiss-Prot), B2RCG2 (UniProtKB/Swiss-Prot), Q9BZX5 (UniProtKB/Swiss-Prot), O15344 (UniProtKB/Swiss-Prot), A8K5A0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001092094 ⟸ NM_001098624 |
- Peptide Label: | isoform 1 |
- UniProtKB: | O75361 (UniProtKB/Swiss-Prot), B2RCG2 (UniProtKB/Swiss-Prot), Q9BZX5 (UniProtKB/Swiss-Prot), O15344 (UniProtKB/Swiss-Prot), A8K5A0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001180206 ⟸ NM_001193277 |
- Peptide Label: | isoform 1 |
- UniProtKB: | O75361 (UniProtKB/Swiss-Prot), B2RCG2 (UniProtKB/Swiss-Prot), Q9BZX5 (UniProtKB/Swiss-Prot), O15344 (UniProtKB/Swiss-Prot), A8K5A0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_150631 ⟸ NM_033289 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A0A8I5KR14 (UniProtKB/TrEMBL), B4DLX8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_000372 ⟸ NM_000381 |
- Peptide Label: | isoform 1 |
- UniProtKB: | O75361 (UniProtKB/Swiss-Prot), B2RCG2 (UniProtKB/Swiss-Prot), Q9BZX5 (UniProtKB/Swiss-Prot), O15344 (UniProtKB/Swiss-Prot), A8K5A0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001180209 ⟸ NM_001193280 |
- Peptide Label: | isoform 5 |
- UniProtKB: | B7Z5K6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001180208 ⟸ NM_001193279 |
- Peptide Label: | isoform 4 |
- UniProtKB: | A0A8I5KPE0 (UniProtKB/TrEMBL), C9J453 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001180207 ⟸ NM_001193278 |
- Peptide Label: | isoform 3 |
- UniProtKB: | A0A087X255 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001334662 ⟸ NM_001347733 |
- Peptide Label: | isoform 1 |
- UniProtKB: | O75361 (UniProtKB/Swiss-Prot), B2RCG2 (UniProtKB/Swiss-Prot), Q9BZX5 (UniProtKB/Swiss-Prot), O15344 (UniProtKB/Swiss-Prot), A8K5A0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000391154 ⟸ ENST00000413894 |
RefSeq Acc Id: | ENSP00000483707 ⟸ ENST00000610939 |
RefSeq Acc Id: | ENSP00000414521 ⟸ ENST00000453318 |
RefSeq Acc Id: | ENSP00000484712 ⟸ ENST00000616003 |
RefSeq Acc Id: | ENSP00000370156 ⟸ ENST00000380779 |
RefSeq Acc Id: | ENSP00000370162 ⟸ ENST00000380785 |
RefSeq Acc Id: | ENSP00000370159 ⟸ ENST00000380782 |
RefSeq Acc Id: | ENSP00000370157 ⟸ ENST00000380780 |
RefSeq Acc Id: | ENSP00000370164 ⟸ ENST00000380787 |
RefSeq Acc Id: | ENSP00000312678 ⟸ ENST00000317552 |
RefSeq Acc Id: | ENSP00000502171 ⟸ ENST00000674917 |
RefSeq Acc Id: | ENSP00000502220 ⟸ ENST00000675358 |
RefSeq Acc Id: | ENSP00000501707 ⟸ ENST00000675073 |
RefSeq Acc Id: | ENSP00000509925 ⟸ ENST00000689773 |
RefSeq Acc Id: | ENSP00000508734 ⟸ ENST00000687008 |
RefSeq Acc Id: | ENSP00000508663 ⟸ ENST00000691943 |
RefSeq Acc Id: | ENSP00000509730 ⟸ ENST00000690004 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O15344-F1-model_v2 | AlphaFold | O15344 | 1-667 | view protein structure |
RGD ID: | 6808684 | ||||||||
Promoter ID: | HG_KWN:65983 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | HeLa_S3 | ||||||||
Transcripts: | ENST00000380782, NM_000381, OTTHUMT00000055735, UC004CTH.2 | ||||||||
Position: |
|
RGD ID: | 13604714 | ||||||||
Promoter ID: | EPDNEW_H28541 | ||||||||
Type: | initiation region | ||||||||
Name: | MID1_4 | ||||||||
Description: | midline 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H28542 EPDNEW_H28543 EPDNEW_H28544 EPDNEW_H28545 EPDNEW_H28546 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13604716 | ||||||||
Promoter ID: | EPDNEW_H28542 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | MID1_5 | ||||||||
Description: | midline 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H28541 EPDNEW_H28543 EPDNEW_H28544 EPDNEW_H28545 EPDNEW_H28546 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13604718 | ||||||||
Promoter ID: | EPDNEW_H28543 | ||||||||
Type: | initiation region | ||||||||
Name: | MID1_1 | ||||||||
Description: | midline 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H28541 EPDNEW_H28542 EPDNEW_H28544 EPDNEW_H28545 EPDNEW_H28546 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13604720 | ||||||||
Promoter ID: | EPDNEW_H28544 | ||||||||
Type: | initiation region | ||||||||
Name: | MID1_2 | ||||||||
Description: | midline 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H28541 EPDNEW_H28542 EPDNEW_H28543 EPDNEW_H28545 EPDNEW_H28546 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13604722 | ||||||||
Promoter ID: | EPDNEW_H28545 | ||||||||
Type: | initiation region | ||||||||
Name: | MID1_6 | ||||||||
Description: | midline 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H28541 EPDNEW_H28542 EPDNEW_H28543 EPDNEW_H28544 EPDNEW_H28546 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:7095 | AgrOrtholog |
COSMIC | MID1 | COSMIC |
Ensembl Genes | ENSG00000101871 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000317552 | ENTREZGENE |
ENST00000317552.9 | UniProtKB/Swiss-Prot | |
ENST00000380779 | ENTREZGENE | |
ENST00000380779.5 | UniProtKB/Swiss-Prot | |
ENST00000380780 | ENTREZGENE | |
ENST00000380780.5 | UniProtKB/Swiss-Prot | |
ENST00000380782.6 | UniProtKB/Swiss-Prot | |
ENST00000380785.5 | UniProtKB/Swiss-Prot | |
ENST00000380787 | ENTREZGENE | |
ENST00000380787.5 | UniProtKB/Swiss-Prot | |
ENST00000413894.5 | UniProtKB/TrEMBL | |
ENST00000413894.6 | UniProtKB/Swiss-Prot | |
ENST00000453318 | ENTREZGENE | |
ENST00000453318.6 | UniProtKB/Swiss-Prot | |
ENST00000616003 | ENTREZGENE | |
ENST00000616003.5 | UniProtKB/TrEMBL | |
ENST00000674917.1 | UniProtKB/TrEMBL | |
ENST00000675073.1 | UniProtKB/TrEMBL | |
ENST00000675358.1 | UniProtKB/TrEMBL | |
ENST00000687008 | ENTREZGENE | |
ENST00000687008.1 | UniProtKB/TrEMBL | |
ENST00000689773.1 | UniProtKB/TrEMBL | |
ENST00000690004 | ENTREZGENE | |
ENST00000690004.1 | UniProtKB/TrEMBL | |
ENST00000691943.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.120.920 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.60.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
3.30.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
4.10.830.40 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Classic Zinc Finger | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000101871 | GTEx |
HGNC ID | HGNC:7095 | ENTREZGENE |
Human Proteome Map | MID1 | Human Proteome Map |
InterPro | B30.2/SPRY | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
B30.2/SPRY_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Bbox_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Butyrophylin_SPRY | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ConA-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
COS_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FN3_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FN3_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
MID1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
MID1_Bbox1_Zfn | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Midline-1_COS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SPRY_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf-RING_LisH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_B-box | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_RING | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_RING/FYVE/PHD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_RING_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:4281 | UniProtKB/Swiss-Prot |
NCBI Gene | 4281 | ENTREZGENE |
OMIM | 300552 | OMIM |
PANTHER | E3 UBIQUITIN-PROTEIN LIGASE TRIM36-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR24099:SF23 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | COS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
fn3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SPRY | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
zf-B_box | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
zf-RING_UBOX | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA30816 | PharmGKB |
PRINTS | BUTYPHLNCDUF | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | B302_SPRY | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
COS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FN3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ZF_BBOX | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ZF_RING_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ZF_RING_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | BBC | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BBOX | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FN3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RING | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SPRY | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | B-box zinc-binding domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RING/U-box | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF49265 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF49899 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A087X255 | ENTREZGENE, UniProtKB/TrEMBL |
A0A6Q8PF94_HUMAN | UniProtKB/TrEMBL | |
A0A6Q8PGA5_HUMAN | UniProtKB/TrEMBL | |
A0A6Q8PGE7_HUMAN | UniProtKB/TrEMBL | |
A0A8I5KPB2_HUMAN | UniProtKB/TrEMBL | |
A0A8I5KPE0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I5KR14 | ENTREZGENE, UniProtKB/TrEMBL | |
A8K5A0 | ENTREZGENE, UniProtKB/TrEMBL | |
B2RCG2 | ENTREZGENE | |
B4DLX8 | ENTREZGENE, UniProtKB/TrEMBL | |
B7Z5K6 | ENTREZGENE, UniProtKB/TrEMBL | |
C9J453 | ENTREZGENE, UniProtKB/TrEMBL | |
O15344 | ENTREZGENE | |
O75361 | ENTREZGENE | |
Q9BZX5 | ENTREZGENE | |
TRI18_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | B2RCG2 | UniProtKB/Swiss-Prot |
O75361 | UniProtKB/Swiss-Prot | |
Q9BZX5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2014-06-24 | MID1 | midline 1 | midline 1 (Opitz/BBB syndrome) | Symbol and/or name change | 5135510 | APPROVED |