| NM_007327.4(GRIN1):c.2298C>T (p.Ser766=) |
single nucleotide variant |
Inborn genetic diseases [RCV002448770]|Intellectual disability, autosomal dominant 8 [RCV000530526] |
Chr9:137163295 [GRCh38]
Chr9:140057747 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.467G>A (p.Arg156His) |
single nucleotide variant |
Inborn genetic diseases [RCV002316577]|Intellectual disability, autosomal dominant 8 [RCV000550660]|not provided [RCV001561619] |
Chr9:137145799 [GRCh38]
Chr9:140040251 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.1910C>T (p.Ala637Val) |
single nucleotide variant |
GRIN1-related disorder [RCV004537882]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive [RCV001196588]|not provided [RCV000522670] |
Chr9:137162636 [GRCh38]
Chr9:140057088 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.1984G>A (p.Glu662Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000022577] |
Chr9:137162710 [GRCh38]
Chr9:140057162 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1679_1681dup (p.Ser560dup) |
duplication |
Intellectual disability, autosomal dominant 8 [RCV000022578] |
Chr9:137162216..137162217 [GRCh38]
Chr9:140056668..140056669 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_139943109)_(140269288_?)dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV001996989] |
Chr9:139943109..140269288 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1765T>C (p.Phe589Leu) |
single nucleotide variant |
not provided [RCV000727630] |
Chr9:137162417 [GRCh38]
Chr9:140056869 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1858G>A (p.Gly620Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000576875] |
Chr9:137162510 [GRCh38]
Chr9:140056962 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_007327.4(GRIN1):c.2449T>C (p.Phe817Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000576887] |
Chr9:137163764 [GRCh38]
Chr9:140058216 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1930G>A (p.Val644Met) |
single nucleotide variant |
not provided [RCV000519384] |
Chr9:137162656 [GRCh38]
Chr9:140057108 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 |
copy number loss |
See cases [RCV000050344] |
Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000050348] |
Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 |
copy number gain |
See cases [RCV000051040] |
Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 |
copy number loss |
See cases [RCV000051116] |
Chr9:136323974..138124532 [GRCh38]
Chr9:139218428..141018984 [GRCh37]
Chr9:138338249..140138805 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 |
copy number gain |
See cases [RCV000051009] |
Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 |
copy number loss |
See cases [RCV000052937] |
Chr9:135452016..137613738 [GRCh38]
Chr9:138343862..140508190 [GRCh37]
Chr9:137483683..139628011 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1 |
copy number loss |
See cases [RCV000052887] |
Chr9:137092629..137375788 [GRCh38]
Chr9:139987081..140270240 [GRCh37]
Chr9:139106902..139390061 [NCBI36]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 |
copy number loss |
See cases [RCV000052936] |
Chr9:134428674..138154922 [GRCh38]
Chr9:137320520..141049374 [GRCh37]
Chr9:136460341..140169195 [NCBI36]
Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] |
Chr9:136015976..138124532 [GRCh38]
Chr9:138907822..141018984 [GRCh37]
Chr9:138047643..140138805 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1 |
copy number loss |
See cases [RCV000052940] |
Chr9:136926575..138114463 [GRCh38]
Chr9:139821027..141008915 [GRCh37]
Chr9:138940848..140128736 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 |
copy number gain |
See cases [RCV000053745] |
Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] |
Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 |
copy number gain |
See cases [RCV000053814] |
Chr9:134174698..138138735 [GRCh38]
Chr9:137091194..141033187 [GRCh37]
Chr9:136029641..140153008 [NCBI36]
Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 |
copy number gain |
See cases [RCV000053746] |
Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] |
Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.2080C>T (p.Arg694Trp) |
single nucleotide variant |
not provided [RCV001764804] |
Chr9:137162912 [GRCh38]
Chr9:140057364 [GRCh37]
Chr9:139177185 [NCBI36]
Chr9:9q34.3 |
uncertain significance|not provided |
| NM_007327.4(GRIN1):c.1340C>T (p.Pro447Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642871]|not provided [RCV000117167] |
Chr9:137161289 [GRCh38]
Chr9:140055741 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.813C>T (p.Leu271=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005089561]|not provided [RCV000084691] |
Chr9:137156882 [GRCh38]
Chr9:140051334 [GRCh37]
Chr9:9q34.3 |
likely benign|not provided |
| NM_007327.4(GRIN1):c.1325C>T (p.Thr442Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001854483]|not provided [RCV000084692] |
Chr9:137161183 [GRCh38]
Chr9:140055635 [GRCh37]
Chr9:9q34.3 |
uncertain significance|not provided |
| NM_007327.4(GRIN1):c.1866C>A (p.Gly622=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003528140]|not provided [RCV000084693] |
Chr9:137162592 [GRCh38]
Chr9:140057044 [GRCh37]
Chr9:9q34.3 |
likely benign|not provided |
| NM_007327.4(GRIN1):c.2064C>G (p.Ser688=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002055251]|not provided [RCV000084694] |
Chr9:137162896 [GRCh38]
Chr9:140057348 [GRCh37]
Chr9:9q34.3 |
likely benign|not provided |
| NM_007327.4(GRIN1):c.2214C>T (p.Phe738=) |
single nucleotide variant |
Inborn genetic diseases [RCV002426649]|Intellectual disability, autosomal dominant 8 [RCV001087452]|not provided [RCV000084695] |
Chr9:137163211 [GRCh38]
Chr9:140057663 [GRCh37]
Chr9:9q34.3 |
likely benign|not provided |
| NM_007327.4(GRIN1):c.2445G>A (p.Gly815=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001088061]|not provided [RCV000084696] |
Chr9:137163760 [GRCh38]
Chr9:140058212 [GRCh37]
Chr9:9q34.3 |
likely benign|not provided |
| NM_007327.4(GRIN1):c.2563G>A (p.Val855Ile) |
single nucleotide variant |
not provided [RCV000084697] |
Chr9:137163878 [GRCh38]
Chr9:140058330 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_007327.4(GRIN1):c.2637A>G (p.Thr879=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002514509]|not provided [RCV000084698] |
Chr9:137165233 [GRCh38]
Chr9:140059685 [GRCh37]
Chr9:9q34.3 |
likely benign|not provided |
| NM_007327.4(GRIN1):c.1467+8G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002390264]|Intellectual disability, autosomal dominant 8 [RCV001519889]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive [RCV001701507]|not provided [RCV000711868]|not specified [RCV000117168] |
Chr9:137161424 [GRCh38]
Chr9:140055876 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_007327.4(GRIN1):c.2241G>C (p.Val747=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312119]|Intellectual disability, autosomal dominant 8 [RCV000464613]|not provided [RCV004717962]|not specified [RCV000117169] |
Chr9:137163238 [GRCh38]
Chr9:140057690 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_007327.4(GRIN1):c.2244G>C (p.Thr748=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312120]|Intellectual disability, autosomal dominant 8 [RCV000459405]|not provided [RCV004717963]|not specified [RCV000117170] |
Chr9:137163241 [GRCh38]
Chr9:140057693 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_007327.4(GRIN1):c.789A>G (p.Pro263=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312121]|Intellectual disability, autosomal dominant 8 [RCV001519887]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive [RCV001701670]|not provided [RCV000711872]|not specified [RCV000117171] |
Chr9:137156786 [GRCh38]
Chr9:140051238 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_007327.4(GRIN1):c.855G>A (p.Val285=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312122]|Intellectual disability, autosomal dominant 8 [RCV001519888]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive [RCV001701601]|not provided [RCV004717964]|not specified [RCV000117172] |
Chr9:137156924 [GRCh38]
Chr9:140051376 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_007327.4(GRIN1):c.505G>A (p.Asp169Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001313303]|not provided [RCV000255971] |
Chr9:137145837 [GRCh38]
Chr9:140040289 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1331C>T (p.Pro444Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002317794]|Intellectual disability, autosomal dominant 8 [RCV001079792]|not provided [RCV000255622] |
Chr9:137161189 [GRCh38]
Chr9:140055641 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.1114-5C>T |
single nucleotide variant |
not specified [RCV000603124] |
Chr9:137158616 [GRCh38]
Chr9:140053068 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2188A>C (p.Ile730Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001303478] |
Chr9:137163185 [GRCh38]
Chr9:140057637 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2443G>A (p.Gly815Arg) |
single nucleotide variant |
GRIN1-related disorder [RCV004528975]|Inborn genetic diseases [RCV000190763]|Intellectual disability, autosomal dominant 8 [RCV003528151]|not provided [RCV004719740] |
Chr9:137163668 [GRCh38]
Chr9:140058120 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.350C>T (p.Pro117Leu) |
single nucleotide variant |
Prostate cancer [RCV000149093] |
Chr9:137142104 [GRCh38]
Chr9:140036556 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) |
copy number gain |
See cases [RCV000133791] |
Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1339+15C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001332980] |
Chr9:137161212 [GRCh38]
Chr9:140055664 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 |
copy number gain |
See cases [RCV000133778] |
Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 |
copy number gain |
See cases [RCV000134916] |
Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 |
copy number gain |
See cases [RCV000134920] |
Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 |
copy number gain |
See cases [RCV000136790] |
Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 |
copy number gain |
See cases [RCV000137825] |
Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 |
copy number gain |
See cases [RCV000138783] |
Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000139207] |
Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000138962] |
Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 |
copy number gain |
See cases [RCV000139807] |
Chr9:133996227..138124524 [GRCh38]
Chr9:136861349..141018976 [GRCh37]
Chr9:135851170..140138797 [NCBI36]
Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 |
copy number gain |
See cases [RCV000141876] |
Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 |
copy number gain |
See cases [RCV000142955] |
Chr9:133918071..138159073 [GRCh38]
Chr9:136783193..141053525 [GRCh37]
Chr9:135773014..140173346 [NCBI36]
Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1 |
copy number loss |
See cases [RCV000142978] |
Chr9:136877772..138124524 [GRCh38]
Chr9:139772224..141018976 [GRCh37]
Chr9:138892045..140138797 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 |
copy number gain |
See cases [RCV000142636] |
Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3 |
copy number gain |
See cases [RCV000142744] |
Chr9:137092629..137270028 [GRCh38]
Chr9:139987081..140164480 [GRCh37]
Chr9:139106902..139284301 [NCBI36]
Chr9:9q34.3 |
benign |
| GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 |
copy number gain |
See cases [RCV000143394] |
Chr9:135704780..138125937 [GRCh38]
Chr9:138596626..141020389 [GRCh37]
Chr9:137736447..140140210 [NCBI36]
Chr9:9q34.3 |
likely pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 |
copy number gain |
See cases [RCV000143476] |
Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 |
copy number loss |
See cases [RCV000148284] |
Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000148113] |
Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1005T>C (p.Thr335=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317686]|Intellectual disability, autosomal dominant 8 [RCV001089362]|not provided [RCV000540707]|not specified [RCV000192317] |
Chr9:137158415 [GRCh38]
Chr9:140052867 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.357G>A (p.Leu119=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002517077]|not provided [RCV000840921]|not specified [RCV000193451] |
Chr9:137142111 [GRCh38]
Chr9:140036563 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.768G>C (p.Gly256=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317687]|Intellectual disability, autosomal dominant 8 [RCV001079498]|not provided [RCV000458354]|not specified [RCV000194689] |
Chr9:137156765 [GRCh38]
Chr9:140051217 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.2499C>T (p.Ile833=) |
single nucleotide variant |
Inborn genetic diseases [RCV002426923]|Intellectual disability, autosomal dominant 8 [RCV000649668]|not provided [RCV001697233]|not specified [RCV000194742] |
Chr9:137163814 [GRCh38]
Chr9:140058266 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000622498]|Intellectual disability, autosomal dominant 8 [RCV000191091]|Seizure [RCV001526577]|not provided [RCV000479068] |
Chr9:137162510 [GRCh38]
Chr9:140056962 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_007327.4(GRIN1):c.255C>T (p.Ser85=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001406456]|not specified [RCV000192623] |
Chr9:137139741 [GRCh38]
Chr9:140034193 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1437G>A (p.Val479=) |
single nucleotide variant |
not specified [RCV000193519] |
Chr9:137161386 [GRCh38]
Chr9:140055838 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.237C>T (p.Cys79=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000543147]|not provided [RCV005414510] |
Chr9:137139723 [GRCh38]
Chr9:140034175 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.2488C>T (p.Leu830=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000544512] |
Chr9:137163803 [GRCh38]
Chr9:140058255 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.679G>C (p.Asp227His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000210389]|Intellectual disability, autosomal dominant 8 [RCV000760222]|NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITH OR WITHOUT SEIZURES, AUTOSOMAL RECESSIVE [RCV002051695] |
Chr9:137156676 [GRCh38]
Chr9:140051128 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_007327.4(GRIN1):c.1670C>G (p.Pro557Arg) |
single nucleotide variant |
Intellectual disability [RCV000224047]|not provided [RCV003229823] |
Chr9:137162209 [GRCh38]
Chr9:140056661 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.525G>A (p.Ala175=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313944]|Intellectual disability, autosomal dominant 8 [RCV000232465]|not provided [RCV003437028]|not specified [RCV000616760] |
Chr9:137145857 [GRCh38]
Chr9:140040309 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.2333+9C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000234646]|not specified [RCV000431873] |
Chr9:137163339 [GRCh38]
Chr9:140057791 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.246C>T (p.Leu82=) |
single nucleotide variant |
Inborn genetic diseases [RCV002429125]|Intellectual disability, autosomal dominant 8 [RCV000228541] |
Chr9:137139732 [GRCh38]
Chr9:140034184 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 |
copy number gain |
See cases [RCV000240081] |
Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.570+16G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002531692]|not specified [RCV000600918] |
Chr9:137145918 [GRCh38]
Chr9:140040370 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV000622458]|Intellectual disability, autosomal dominant 8 [RCV002051870]|not provided [RCV001591400] |
Chr9:137162182 [GRCh38]
Chr9:140056634 [GRCh37]
Chr9:9q34.3 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_007327.4(GRIN1):c.297C>T (p.Asn99=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002532748]|not provided [RCV001718946] |
Chr9:137142051 [GRCh38]
Chr9:140036503 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.759G>A (p.Glu253=) |
single nucleotide variant |
not provided [RCV000487625] |
Chr9:137156756 [GRCh38]
Chr9:140051208 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.947A>G (p.Lys316Arg) |
single nucleotide variant |
not provided [RCV000521029] |
Chr9:137157016 [GRCh38]
Chr9:140051468 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1114-8A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000553061] |
Chr9:137158613 [GRCh38]
Chr9:140053065 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1888C>T (p.Arg630Cys) |
single nucleotide variant |
not provided [RCV002285989] |
Chr9:137162614 [GRCh38]
Chr9:140057066 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.996T>A (p.Asp332Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642972]|not provided [RCV001760749] |
Chr9:137158406 [GRCh38]
Chr9:140052858 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1853G>T (p.Gly618Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001268942] |
Chr9:137162505 [GRCh38]
Chr9:140056957 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1975C>T (p.Arg659Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002526005]|not provided [RCV000488193] |
Chr9:137162701 [GRCh38]
Chr9:140057153 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.705C>T (p.Ala235=) |
single nucleotide variant |
GRIN1-related disorder [RCV004535541]|Inborn genetic diseases [RCV002318591]|Intellectual disability, autosomal dominant 8 [RCV001081647]|not provided [RCV000488242] |
Chr9:137156702 [GRCh38]
Chr9:140051154 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.1237C>T (p.Pro413Ser) |
single nucleotide variant |
not provided [RCV002288026] |
Chr9:137161095 [GRCh38]
Chr9:140055547 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1198-2del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV000529179] |
Chr9:137161054 [GRCh38]
Chr9:140055506 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.387G>A (p.Ser129=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001050499]|not provided [RCV000605049] |
Chr9:137142141 [GRCh38]
Chr9:140036593 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.2417C>A (p.Ala806Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000625828] |
Chr9:137163642 [GRCh38]
Chr9:140058094 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.63G>A (p.Ala21=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000649664]|not specified [RCV000606276] |
Chr9:137139549 [GRCh38]
Chr9:140034001 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2420C>T (p.Thr807Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV000622627]|Intellectual disability, autosomal dominant 8 [RCV001868141] |
Chr9:137163645 [GRCh38]
Chr9:140058097 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.-16C>T |
single nucleotide variant |
not specified [RCV000600931] |
Chr9:137139471 [GRCh38]
Chr9:140033923 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.957G>A (p.Pro319=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000767988]|Intellectual disability, autosomal dominant 8 [RCV003224407] |
Chr9:137157026 [GRCh38]
Chr9:140051478 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.1645A>C (p.Ser549Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000624738]|Intellectual disability, autosomal dominant 8 [RCV003152721] |
Chr9:137162184 [GRCh38]
Chr9:140056636 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_007327.4(GRIN1):c.1656C>G (p.Asp552Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000576882] |
Chr9:137162195 [GRCh38]
Chr9:140056647 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.649C>T (p.Arg217Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001859995]|NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITH OR WITHOUT SEIZURES, AUTOSOMAL RECESSIVE [RCV002051707] |
Chr9:137149087 [GRCh38]
Chr9:140043539 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.2479G>A (p.Gly827Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000576881]|NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND WITH OR WITHOUT SEIZURES, AUTOSOMAL DOMINANT [RCV002051706]|Neurodevelopmental disorder [RCV001375029]|not provided [RCV001092464] |
Chr9:137163794 [GRCh38]
Chr9:140058246 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.1656C>A (p.Asp552Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000576888] |
Chr9:137162195 [GRCh38]
Chr9:140056647 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.879_880insCTCGAT (p.His293_Glu294insLeuAsp) |
insertion |
not provided [RCV000598843] |
Chr9:137156948..137156949 [GRCh38]
Chr9:140051400..140051401 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV000623606]|Intellectual disability [RCV001260636]|Intellectual disability, autosomal dominant 8 [RCV000763192]|Intellectual disability, autosomal dominant 8 [RCV001043920]|not provided [RCV000730546] |
Chr9:137163845 [GRCh38]
Chr9:140058297 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001239704]|not provided [RCV005251189] |
Chr9:137163846 [GRCh38]
Chr9:140058298 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.734A>T (p.Tyr245Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000767986]|Intellectual disability, autosomal dominant 8 [RCV003224406]|not provided [RCV002284436] |
Chr9:137156731 [GRCh38]
Chr9:140051183 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.780C>T (p.Arg260=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001081754]|not provided [RCV000416174] |
Chr9:137156777 [GRCh38]
Chr9:140051229 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.351C>G (p.Pro117=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000538028] |
Chr9:137142105 [GRCh38]
Chr9:140036557 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1670C>T (p.Pro557Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005410899]|not provided [RCV000412873] |
Chr9:137162209 [GRCh38]
Chr9:140056661 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) |
copy number gain |
See cases [RCV000449375] |
Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1854_1859dup (p.Ile619_Gly620dup) |
duplication |
Intellectual disability, autosomal dominant 8 [RCV000449545] |
Chr9:137162502..137162503 [GRCh38]
Chr9:140056954..140056955 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 |
copy number gain |
not specified [RCV003986800] |
Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 |
copy number gain |
See cases [RCV000447080] |
Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 |
copy number loss |
See cases [RCV000446074] |
Chr9:138222049..141018925 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:140043049-141020389)x1 |
copy number loss |
See cases [RCV000446191] |
Chr9:140043049..141020389 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1198-7C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001522763]|not provided [RCV000427214] |
Chr9:137161049 [GRCh38]
Chr9:140055501 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.1864+17C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002060073]|not provided [RCV001696779] |
Chr9:137162533 [GRCh38]
Chr9:140056985 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.394-19G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002059719]|not specified [RCV000430913] |
Chr9:137145707 [GRCh38]
Chr9:140040159 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.2008C>A (p.Pro670Thr) |
single nucleotide variant |
not provided [RCV000442420] |
Chr9:137162734 [GRCh38]
Chr9:140057186 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.630G>A (p.Glu210=) |
single nucleotide variant |
Inborn genetic diseases [RCV002356592]|Intellectual disability, autosomal dominant 8 [RCV001478074]|not specified [RCV000423939] |
Chr9:137149068 [GRCh38]
Chr9:140043520 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2444-14G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001764357]|not provided [RCV003237844]|not specified [RCV000427368] |
Chr9:137163745 [GRCh38]
Chr9:140058197 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.2022C>T (p.Asn674=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005090779]|not specified [RCV000431266] |
Chr9:137162854 [GRCh38]
Chr9:140057306 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2334-18A>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002062789]|not specified [RCV000434551] |
Chr9:137163541 [GRCh38]
Chr9:140057993 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.394-13C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002062660]|not specified [RCV000417934] |
Chr9:137145713 [GRCh38]
Chr9:140040165 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.696C>T (p.Tyr232=) |
single nucleotide variant |
Inborn genetic diseases [RCV002365567]|Intellectual disability, autosomal dominant 8 [RCV000649662]|not provided [RCV001698399] |
Chr9:137156693 [GRCh38]
Chr9:140051145 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1497T>C (p.Asn499=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002063456]|not specified [RCV000420935] |
Chr9:137161953 [GRCh38]
Chr9:140056405 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2412C>G (p.Ala804=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000560531]|not provided [RCV001720249] |
Chr9:137163637 [GRCh38]
Chr9:140058089 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1179G>A (p.Gln393=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002063414]|not specified [RCV000431463] |
Chr9:137158686 [GRCh38]
Chr9:140053138 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1865-13C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002059010]|not provided [RCV001698202] |
Chr9:137162578 [GRCh38]
Chr9:140057030 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.2589+6G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001046024]|not provided [RCV001508290] |
Chr9:137163910 [GRCh38]
Chr9:140058362 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.-35C>A |
single nucleotide variant |
not provided [RCV004718644]|not specified [RCV000442173] |
Chr9:137139452 [GRCh38]
Chr9:140033904 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.*9G>A |
single nucleotide variant |
not specified [RCV000431850] |
Chr9:137167536 [GRCh38]
Chr9:140061988 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.693A>C (p.Val231=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318457]|Intellectual disability, autosomal dominant 8 [RCV000649669]|not provided [RCV001720251] |
Chr9:137156690 [GRCh38]
Chr9:140051142 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.2133C>T (p.Tyr711=) |
single nucleotide variant |
not specified [RCV000418617] |
Chr9:137162965 [GRCh38]
Chr9:140057417 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.394-11G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002062355]|not specified [RCV000418621] |
Chr9:137145715 [GRCh38]
Chr9:140040167 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.333C>T (p.Ala111=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002526352]|not specified [RCV000428296] |
Chr9:137142087 [GRCh38]
Chr9:140036539 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.864G>A (p.Val288=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002059610]|not provided [RCV001704285] |
Chr9:137156933 [GRCh38]
Chr9:140051385 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.66C>T (p.Cys22=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001484581]|not provided [RCV001704460] |
Chr9:137139552 [GRCh38]
Chr9:140034004 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1584G>A (p.Glu528=) |
single nucleotide variant |
Inborn genetic diseases [RCV002311483]|Intellectual disability, autosomal dominant 8 [RCV001086166]|not provided [RCV000711869]|not specified [RCV000425016] |
Chr9:137162040 [GRCh38]
Chr9:140056492 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_007327.4(GRIN1):c.351C>A (p.Pro117=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002059892]|not specified [RCV000428515] |
Chr9:137142105 [GRCh38]
Chr9:140036557 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2799C>T (p.Ser933=) |
single nucleotide variant |
Inborn genetic diseases [RCV002436281]|Intellectual disability, autosomal dominant 8 [RCV000474024]|not provided [RCV001092465]|not specified [RCV000435573] |
Chr9:137167509 [GRCh38]
Chr9:140061961 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1513C>T (p.Leu505=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313066]|Intellectual disability, autosomal dominant 8 [RCV000460308]|not provided [RCV001311044]|not specified [RCV001821173] |
Chr9:137161969 [GRCh38]
Chr9:140056421 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.570+10G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000558371]|not provided [RCV004707253]|not specified [RCV000428919] |
Chr9:137145912 [GRCh38]
Chr9:140040364 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.2443+14C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005090861]|not specified [RCV000435728] |
Chr9:137163682 [GRCh38]
Chr9:140058134 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2121G>A (p.Glu707=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002522410]|not specified [RCV000439364] |
Chr9:137162953 [GRCh38]
Chr9:140057405 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.258+18C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002062706]|not provided [RCV000514011]|not specified [RCV000419396] |
Chr9:137139762 [GRCh38]
Chr9:140034214 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.570+20G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002060051]|not specified [RCV000439477] |
Chr9:137145922 [GRCh38]
Chr9:140040374 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.394-4G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000863280]|Intellectual disability, autosomal dominant 8 [RCV002502561]|not provided [RCV001704413] |
Chr9:137145722 [GRCh38]
Chr9:140040174 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.2013+19G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642889]|not specified [RCV000425699] |
Chr9:137162758 [GRCh38]
Chr9:140057210 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.-24G>A |
single nucleotide variant |
not specified [RCV000429296] |
Chr9:137139463 [GRCh38]
Chr9:140033915 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1548G>A (p.Pro516=) |
single nucleotide variant |
Inborn genetic diseases [RCV002311488]|Intellectual disability, autosomal dominant 8 [RCV000467124]|not provided [RCV000992111]|not specified [RCV000432597] |
Chr9:137162004 [GRCh38]
Chr9:140056456 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2097G>C (p.Leu699=) |
single nucleotide variant |
GRIN1-related disorder [RCV004533069]|Inborn genetic diseases [RCV002418301]|Intellectual disability, autosomal dominant 8 [RCV001085476]|not provided [RCV000711870]|not specified [RCV004999405] |
Chr9:137162929 [GRCh38]
Chr9:140057381 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.930C>T (p.Gly310=) |
single nucleotide variant |
not specified [RCV000425812] |
Chr9:137156999 [GRCh38]
Chr9:140051451 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.-29G>A |
single nucleotide variant |
not specified [RCV000432787] |
Chr9:137139458 [GRCh38]
Chr9:140033910 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.105G>A (p.Thr35=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000897597]|not provided [RCV001698201] |
Chr9:137139591 [GRCh38]
Chr9:140034043 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1632+14G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002065084]|not specified [RCV000443783] |
Chr9:137162102 [GRCh38]
Chr9:140056554 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.747C>T (p.Val249=) |
single nucleotide variant |
not specified [RCV000429974] |
Chr9:137156744 [GRCh38]
Chr9:140051196 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1044C>T (p.Phe348=) |
single nucleotide variant |
Inborn genetic diseases [RCV002311500]|Intellectual disability, autosomal dominant 8 [RCV000649666]|not specified [RCV000433279] |
Chr9:137158454 [GRCh38]
Chr9:140052906 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.793+15T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002059929]|not specified [RCV000433532] |
Chr9:137156805 [GRCh38]
Chr9:140051257 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1431C>T (p.His477=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002059817]|not specified [RCV000426859] |
Chr9:137161380 [GRCh38]
Chr9:140055832 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1989C>T (p.Arg663=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003766344]|not specified [RCV000440952] |
Chr9:137162715 [GRCh38]
Chr9:140057167 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.387G>C (p.Ser129=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001422063]|not provided [RCV001721435] |
Chr9:137142141 [GRCh38]
Chr9:140036593 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1198-6C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002525383]|Intellectual disability, autosomal dominant 8 [RCV002058908]|not specified [RCV000444503] |
Chr9:137161050 [GRCh38]
Chr9:140055502 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.426G>A (p.Pro142=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001497883]|not provided [RCV001704485]|not specified [RCV001821203] |
Chr9:137145758 [GRCh38]
Chr9:140040210 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.570+12C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002059000]|not specified [RCV000444679] |
Chr9:137145914 [GRCh38]
Chr9:140040366 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 |
copy number loss |
See cases [RCV000448743] |
Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 |
copy number gain |
See cases [RCV000448978] |
Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 |
copy number gain |
See cases [RCV000448784] |
Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu) |
single nucleotide variant |
GRIN1-related disorder [RCV000509282]|not provided [RCV000483066] |
Chr9:137162700 [GRCh38]
Chr9:140057152 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_007327.4(GRIN1):c.2700+8G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000456593] |
Chr9:137165304 [GRCh38]
Chr9:140059756 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.2442C>T (p.Ala814=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000456851]|not provided [RCV000711871] |
Chr9:137163667 [GRCh38]
Chr9:140058119 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1607A>G (p.Gln536Arg) |
single nucleotide variant |
not provided [RCV000484871] |
Chr9:137162063 [GRCh38]
Chr9:140056515 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.329C>T (p.Thr110Ile) |
single nucleotide variant |
not provided [RCV000484875] |
Chr9:137142083 [GRCh38]
Chr9:140036535 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1595C>A (p.Pro532His) |
single nucleotide variant |
not provided [RCV000484949] |
Chr9:137162051 [GRCh38]
Chr9:140056503 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.968+10dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV001487002]|not provided [RCV000866111]|not specified [RCV000481803] |
Chr9:137157043..137157044 [GRCh38]
Chr9:140051495..140051496 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2314G>C (p.Val772Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000465077] |
Chr9:137163311 [GRCh38]
Chr9:140057763 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2595A>G (p.Arg865=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000468893] |
Chr9:137165191 [GRCh38]
Chr9:140059643 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.614C>T (p.Thr205Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002522758]|Intellectual disability, autosomal dominant 8 [RCV000472824]|not provided [RCV001696870] |
Chr9:137149052 [GRCh38]
Chr9:140043504 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1955C>T (p.Ala652Val) |
single nucleotide variant |
not provided [RCV000486169] |
Chr9:137162681 [GRCh38]
Chr9:140057133 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1924A>C (p.Ile642Leu) |
single nucleotide variant |
not provided [RCV000486798] |
Chr9:137162650 [GRCh38]
Chr9:140057102 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1923G>A (p.Met641Ile) |
single nucleotide variant |
GRIN1-related disorder [RCV000844969]|Intellectual disability, autosomal dominant 8 [RCV000473483]|not provided [RCV002293243] |
Chr9:137162649 [GRCh38]
Chr9:140057101 [GRCh37]
Chr9:9q34.3 |
pathogenic|not provided |
| NM_007327.4(GRIN1):c.1340C>A (p.Pro447His) |
single nucleotide variant |
Inborn genetic diseases [RCV003298461]|Intellectual disability, autosomal dominant 8 [RCV000466369]|not provided [RCV001563171]|not specified [RCV001821222] |
Chr9:137161289 [GRCh38]
Chr9:140055741 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1339+7GCGCGGGGCAGGGCGCGGG[3] |
microsatellite |
Intellectual disability, autosomal dominant 8 [RCV002060118]|not specified [RCV000503597] |
Chr9:137161203..137161204 [GRCh38]
Chr9:140055655..140055656 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_007327.4(GRIN1):c.1701G>A (p.Gly567=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002524194]|not specified [RCV000501929] |
Chr9:137162240 [GRCh38]
Chr9:140056692 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|likely benign |
| NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000500334] |
Chr9:137163606 [GRCh38]
Chr9:140058058 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 |
copy number loss |
See cases [RCV000510584] |
Chr9:138209358..141020389 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1950C>G (p.Asn650Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000576877]|not provided [RCV002293244] |
Chr9:137162676 [GRCh38]
Chr9:140057128 [GRCh37]
Chr9:9q34.3 |
pathogenic|not provided |
| NM_007327.4(GRIN1):c.2441C>A (p.Ala814Asp) |
single nucleotide variant |
not provided [RCV000494042] |
Chr9:137163666 [GRCh38]
Chr9:140058118 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.2062T>C (p.Ser688Pro) |
single nucleotide variant |
not provided [RCV000494405] |
Chr9:137162894 [GRCh38]
Chr9:140057346 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1949A>T (p.Asn650Ile) |
single nucleotide variant |
not provided [RCV000493190] |
Chr9:137162675 [GRCh38]
Chr9:140057127 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_007327.4(GRIN1):c.2452A>C (p.Met818Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000532186] |
Chr9:137163767 [GRCh38]
Chr9:140058219 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 |
copy number gain |
See cases [RCV000511188] |
Chr9:138275621..141020389 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.152A>G (p.Lys51Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002404530]|Intellectual disability, autosomal dominant 8 [RCV001089367]|not provided [RCV000840242] |
Chr9:137139638 [GRCh38]
Chr9:140034090 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.259-10G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000557037] |
Chr9:137142003 [GRCh38]
Chr9:140036455 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1666C>T (p.Gln556Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy 101 [RCV002051588] |
Chr9:137162205 [GRCh38]
Chr9:140056657 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.237C>A (p.Cys79Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001860009]|not provided [RCV000578586] |
Chr9:137139723 [GRCh38]
Chr9:140034175 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.1850C>G (p.Ser617Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643062]|not provided [RCV003327919] |
Chr9:137162502 [GRCh38]
Chr9:140056954 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.2232C>T (p.Cys744=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001482682]|not provided [RCV001698436] |
Chr9:137163229 [GRCh38]
Chr9:140057681 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1382A>G (p.Asp461Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV000624711]|Intellectual disability, autosomal dominant 8 [RCV000649660]|not provided [RCV001731815]|not specified [RCV004525989] |
Chr9:137161331 [GRCh38]
Chr9:140055783 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2504T>C (p.Ile835Thr) |
single nucleotide variant |
Self-limited epilepsy with centrotemporal spikes [RCV000656029] |
Chr9:137163819 [GRCh38]
Chr9:140058271 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.571-19A>C |
single nucleotide variant |
not specified [RCV000607792] |
Chr9:137148990 [GRCh38]
Chr9:140043442 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1198-19G>C |
single nucleotide variant |
Hemimegalencephaly [RCV000626906] |
Chr9:137161037 [GRCh38]
Chr9:140055489 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1467+19del |
deletion |
not specified [RCV000609563] |
Chr9:137161431 [GRCh38]
Chr9:140055883 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1751+13C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002066613]|not specified [RCV000612142] |
Chr9:137162303 [GRCh38]
Chr9:140056755 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1461G>A (p.Gln487=) |
single nucleotide variant |
not specified [RCV000612261] |
Chr9:137161410 [GRCh38]
Chr9:140055862 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1958C>G (p.Ala653Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV000624415] |
Chr9:137162684 [GRCh38]
Chr9:140057136 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.571-4G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002062899]|not specified [RCV000615511] |
Chr9:137149005 [GRCh38]
Chr9:140043457 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2700+8G>A |
single nucleotide variant |
not specified [RCV000613008] |
Chr9:137165304 [GRCh38]
Chr9:140059756 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1809G>C (p.Leu603=) |
single nucleotide variant |
Inborn genetic diseases [RCV002315019]|Intellectual disability, autosomal dominant 8 [RCV000554649]|not provided [RCV003437270]|not specified [RCV000602220] |
Chr9:137162461 [GRCh38]
Chr9:140056913 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.1927A>G (p.Ile643Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 1 [RCV002283502]|Intellectual disability, autosomal dominant 8 [RCV000649654] |
Chr9:137162653 [GRCh38]
Chr9:140057105 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.154C>G (p.Arg52Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000649655] |
Chr9:137139640 [GRCh38]
Chr9:140034092 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_007327.4(GRIN1):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000649656] |
Chr9:137139487 [GRCh38]
Chr9:140033939 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.2231G>A (p.Cys744Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000649657] |
Chr9:137163228 [GRCh38]
Chr9:140057680 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.631G>A (p.Ala211Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000649658] |
Chr9:137149069 [GRCh38]
Chr9:140043521 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1647C>T (p.Ser549=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000649659] |
Chr9:137162186 [GRCh38]
Chr9:140056638 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1045G>T (p.Ala349Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002397295]|Intellectual disability, autosomal dominant 8 [RCV000649661]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive [RCV001332979]|not provided [RCV000999295] |
Chr9:137158455 [GRCh38]
Chr9:140052907 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.259-9T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000649663] |
Chr9:137142004 [GRCh38]
Chr9:140036456 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2313C>T (p.Asn771=) |
single nucleotide variant |
GRIN1-related disorder [RCV004544891]|Intellectual disability, autosomal dominant 8 [RCV000649667] |
Chr9:137163310 [GRCh38]
Chr9:140057762 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2235C>T (p.Asp745=) |
single nucleotide variant |
Inborn genetic diseases [RCV002424513]|Intellectual disability, autosomal dominant 8 [RCV000649670] |
Chr9:137163232 [GRCh38]
Chr9:140057684 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2013+20G>T |
single nucleotide variant |
not specified [RCV000602055] |
Chr9:137162759 [GRCh38]
Chr9:140057211 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.793+12G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002066564]|not specified [RCV000613092] |
Chr9:137156802 [GRCh38]
Chr9:140051254 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2172-12C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002063227]|not specified [RCV000607747] |
Chr9:137163157 [GRCh38]
Chr9:140057609 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1076G>A (p.Arg359His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001316189]|not provided [RCV003321694]|not specified [RCV000610442] |
Chr9:137158486 [GRCh38]
Chr9:140052938 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.2443+15A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002063149]|not specified [RCV000616404] |
Chr9:137163683 [GRCh38]
Chr9:140058135 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1108A>G (p.Thr370Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001523565]|not provided [RCV000584903] |
Chr9:137158518 [GRCh38]
Chr9:140052970 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_007327.4(GRIN1):c.1468-17G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003767766]|not specified [RCV000607886] |
Chr9:137161907 [GRCh38]
Chr9:140056359 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2700+11G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642907]|not specified [RCV000607914] |
Chr9:137165307 [GRCh38]
Chr9:140059759 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2014-20C>T |
single nucleotide variant |
not specified [RCV000616597] |
Chr9:137162826 [GRCh38]
Chr9:140057278 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.570+13G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002066641]|not specified [RCV000613625] |
Chr9:137145915 [GRCh38]
Chr9:140040367 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.2129A>G (p.Asn710Ser) |
single nucleotide variant |
not provided [RCV003314883] |
Chr9:137162961 [GRCh38]
Chr9:140057413 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2171+14G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003767478]|not specified [RCV000614442] |
Chr9:137163017 [GRCh38]
Chr9:140057469 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) |
copy number gain |
Global developmental delay [RCV000626548] |
Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1467+17G>A |
single nucleotide variant |
not specified [RCV000607475] |
Chr9:137161433 [GRCh38]
Chr9:140055885 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 |
copy number loss |
mTOR Inhibitor response [RCV000626442] |
Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3 |
drug response |
| NM_007327.4(GRIN1):c.2199G>A (p.Ser733=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001857857]|not provided [RCV000513292] |
Chr9:137163196 [GRCh38]
Chr9:140057648 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) |
copy number gain |
See cases [RCV000512392] |
Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.2223G>C (p.Ser741=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316457]|Intellectual disability, autosomal dominant 8 [RCV001496223]|not provided [RCV000513639] |
Chr9:137163220 [GRCh38]
Chr9:140057672 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1961T>G (p.Phe654Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000677415] |
Chr9:137162687 [GRCh38]
Chr9:140057139 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1964T>A (p.Leu655Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000679997] |
Chr9:137162690 [GRCh38]
Chr9:140057142 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.722C>T (p.Thr241Met) |
single nucleotide variant |
not provided [RCV001760469] |
Chr9:137156719 [GRCh38]
Chr9:140051171 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.368C>A (p.Thr123Asn) |
single nucleotide variant |
Intellectual disability [RCV000681489]|Intellectual disability, autosomal dominant 8 [RCV002531421]|not provided [RCV001597201] |
Chr9:137142122 [GRCh38]
Chr9:140036574 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.22A>C (p.Thr8Pro) |
single nucleotide variant |
Intellectual disability [RCV000681504]|Intellectual disability, autosomal dominant 8 [RCV001060033] |
Chr9:137139508 [GRCh38]
Chr9:140033960 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 |
copy number gain |
not provided [RCV000683160] |
Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1012G>A (p.Val338Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002317916]|Intellectual disability, autosomal dominant 8 [RCV000688402]|not provided [RCV001508287] |
Chr9:137158422 [GRCh38]
Chr9:140052874 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.570+4A>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000685834] |
Chr9:137145906 [GRCh38]
Chr9:140040358 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1516C>T (p.Leu506Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000686682] |
Chr9:137161972 [GRCh38]
Chr9:140056424 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_007327.4(GRIN1):c.1847A>G (p.Asn616Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000687064] |
Chr9:137162499 [GRCh38]
Chr9:140056951 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.474C>T (p.Tyr158=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314601] |
Chr9:137145806 [GRCh38]
Chr9:140040258 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.879C>T (p.His293=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314590]|Intellectual disability, autosomal dominant 8 [RCV002060915] |
Chr9:137156948 [GRCh38]
Chr9:140051400 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1098C>G (p.Ile366Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001523300] |
Chr9:137158508 [GRCh38]
Chr9:140052960 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_007327.4(GRIN1):c.1971G>A (p.Leu657=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000695817] |
Chr9:137162697 [GRCh38]
Chr9:140057149 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.2716C>A (p.Arg906Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000705185] |
Chr9:137167426 [GRCh38]
Chr9:140061878 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.510C>A (p.Asp170Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000691197] |
Chr9:137145842 [GRCh38]
Chr9:140040294 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1355C>T (p.Pro452Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002313550] |
Chr9:137161304 [GRCh38]
Chr9:140055756 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1198-3del |
deletion |
Inborn genetic diseases [RCV002318770]|Intellectual disability, autosomal dominant 8 [RCV001523240] |
Chr9:137161047 [GRCh38]
Chr9:140055499 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.1995G>C (p.Thr665=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313604]|Intellectual disability, autosomal dominant 8 [RCV001428397]|not provided [RCV001597210] |
Chr9:137162721 [GRCh38]
Chr9:140057173 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q34.3(chr9:139754431-140088630)x3 |
copy number gain |
not provided [RCV000753227] |
Chr9:139754431..140088630 [GRCh37]
Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:140000619-140088630)x3 |
copy number gain |
not provided [RCV000753230] |
Chr9:140000619..140088630 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.669C>G (p.Ala223=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316683]|Intellectual disability, autosomal dominant 8 [RCV001441630] |
Chr9:137149107 [GRCh38]
Chr9:140043559 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.888C>T (p.Leu296=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317629]|Intellectual disability, autosomal dominant 8 [RCV001480833] |
Chr9:137156957 [GRCh38]
Chr9:140051409 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1198-3C>A |
single nucleotide variant |
Inborn genetic diseases [RCV002318264]|Intellectual disability, autosomal dominant 8 [RCV001862085] |
Chr9:137161053 [GRCh38]
Chr9:140055505 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2511C>T (p.Tyr837=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318145]|Intellectual disability, autosomal dominant 8 [RCV002060946] |
Chr9:137163826 [GRCh38]
Chr9:140058278 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1829C>G (p.Ser610Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002318853] |
Chr9:137162481 [GRCh38]
Chr9:140056933 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:139674181-141018648)x1 |
copy number loss |
Kleefstra syndrome 1 [RCV004813380] |
Chr9:139674181..141018648 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139754427-140088630)x3 |
copy number gain |
not provided [RCV000753226] |
Chr9:139754427..140088630 [GRCh37]
Chr9:9q34.3 |
benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 |
copy number gain |
not provided [RCV000748055] |
Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 |
copy number loss |
not provided [RCV000748787] |
Chr9:137816459..141114095 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 |
copy number gain |
not provided [RCV000748053] |
Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 |
copy number gain |
not provided [RCV000748063] |
Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 |
copy number gain |
not provided [RCV000748054] |
Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1257A>G (p.Thr419=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001393066] |
Chr9:137161115 [GRCh38]
Chr9:140055567 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1340-18_1340-17insGTA |
insertion |
Intellectual disability, autosomal dominant 8 [RCV002072234]|not provided [RCV001572483] |
Chr9:137161271..137161272 [GRCh38]
Chr9:140055723..140055724 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.1976G>A (p.Arg659Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003493868]|not provided [RCV001702142] |
Chr9:137162702 [GRCh38]
Chr9:140057154 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.2122A>C (p.Lys708Gln) |
single nucleotide variant |
not provided [RCV000762600] |
Chr9:137162954 [GRCh38]
Chr9:140057406 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2333+56C>T |
single nucleotide variant |
not provided [RCV001586619] |
Chr9:137163386 [GRCh38]
Chr9:140057838 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.672-215C>T |
single nucleotide variant |
not provided [RCV001545822] |
Chr9:137156454 [GRCh38]
Chr9:140050906 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2265C>T (p.Arg755=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001455158] |
Chr9:137163262 [GRCh38]
Chr9:140057714 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1206G>A (p.Thr402=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001475435] |
Chr9:137161064 [GRCh38]
Chr9:140055516 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1440A>G (p.Ala480=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000865236] |
Chr9:137161389 [GRCh38]
Chr9:140055841 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.912G>A (p.Pro304=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001402732] |
Chr9:137156981 [GRCh38]
Chr9:140051433 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1149C>T (p.Gly383=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000870589]|not provided [RCV001558616] |
Chr9:137158656 [GRCh38]
Chr9:140053108 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.420C>T (p.Thr140=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001453335] |
Chr9:137145752 [GRCh38]
Chr9:140040204 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.378C>T (p.Ser126=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001419833] |
Chr9:137142132 [GRCh38]
Chr9:140036584 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.819C>T (p.Asn273=) |
single nucleotide variant |
not provided [RCV000983165] |
Chr9:137156888 [GRCh38]
Chr9:140051340 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1339+9G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000926335] |
Chr9:137161206 [GRCh38]
Chr9:140055658 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.36G>C (p.Leu12=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001410396] |
Chr9:137139522 [GRCh38]
Chr9:140033974 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1650G>A (p.Thr550=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001423917] |
Chr9:137162189 [GRCh38]
Chr9:140056641 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.12:g.(?_137139467)_(137139764_?)dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV001032916] |
Chr9:140033919..140034216 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.352G>A (p.Val118Met) |
single nucleotide variant |
GRIN1-related disorder [RCV004528329]|Intellectual disability, autosomal dominant 8 [RCV000995776] |
Chr9:137142106 [GRCh38]
Chr9:140036558 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.1342del (p.Arg448fs) |
deletion |
Intellectual disability, autosomal dominant 8 [RCV000995777] |
Chr9:137161196 [GRCh38]
Chr9:140055648 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1299G>C (p.Lys433Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001034218] |
Chr9:137161157 [GRCh38]
Chr9:140055609 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1198-3C>T |
single nucleotide variant |
GRIN1-related disorder [RCV004735812]|Inborn genetic diseases [RCV002336629]|Intellectual disability, autosomal dominant 8 [RCV000804247] |
Chr9:137161053 [GRCh38]
Chr9:140055505 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 |
copy number gain |
not provided [RCV000845900] |
Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.672-267_672-229del |
deletion |
not provided [RCV000827877] |
Chr9:137156380..137156418 [GRCh38]
Chr9:140050832..140050870 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.1011C>A (p.Arg337=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000867644]|not provided [RCV001567057] |
Chr9:137158421 [GRCh38]
Chr9:140052873 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1197+7G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001476086] |
Chr9:137158711 [GRCh38]
Chr9:140053163 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1776C>T (p.Asn592=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001082483]|not provided [RCV000866346] |
Chr9:137162428 [GRCh38]
Chr9:140056880 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.546G>A (p.Thr182=) |
single nucleotide variant |
Inborn genetic diseases [RCV002345988]|Intellectual disability, autosomal dominant 8 [RCV000868218] |
Chr9:137145878 [GRCh38]
Chr9:140040330 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1254G>A (p.Gly418=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002066228] |
Chr9:137161112 [GRCh38]
Chr9:140055564 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.159C>T (p.His53=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001457201]|not provided [RCV000863493] |
Chr9:137139645 [GRCh38]
Chr9:140034097 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1344C>T (p.Arg448=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001438938] |
Chr9:137161293 [GRCh38]
Chr9:140055745 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1671G>C (p.Pro557=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002066076] |
Chr9:137162210 [GRCh38]
Chr9:140056662 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2444-10C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001402303] |
Chr9:137163749 [GRCh38]
Chr9:140058201 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.672-148G>A |
single nucleotide variant |
not provided [RCV000837347] |
Chr9:137156521 [GRCh38]
Chr9:140050973 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.672-147C>T |
single nucleotide variant |
not provided [RCV000837348] |
Chr9:137156522 [GRCh38]
Chr9:140050974 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.394-22_394-20delinsACT |
indel |
not provided [RCV000827302] |
Chr9:137145704..137145706 [GRCh38]
Chr9:140040156..140040158 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.238G>A (p.Glu80Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000800998] |
Chr9:137139724 [GRCh38]
Chr9:140034176 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2172-5G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000818282] |
Chr9:137163164 [GRCh38]
Chr9:140057616 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.394-188_394-130del |
deletion |
not provided [RCV000841761] |
Chr9:137145529..137145587 [GRCh38]
Chr9:140039981..140040039 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.394-176_394-175insA |
insertion |
not provided [RCV000841762] |
Chr9:137145550..137145551 [GRCh38]
Chr9:140040002..140040003 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.394-139C>A |
single nucleotide variant |
not provided [RCV000841763] |
Chr9:137145587 [GRCh38]
Chr9:140040039 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.672-134A>G |
single nucleotide variant |
not provided [RCV000841764] |
Chr9:137156535 [GRCh38]
Chr9:140050987 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.672-106A>C |
single nucleotide variant |
not provided [RCV000841765]|not specified [RCV004594206] |
Chr9:137156563 [GRCh38]
Chr9:140051015 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.672-80A>G |
single nucleotide variant |
not provided [RCV000841766]|not specified [RCV004594207] |
Chr9:137156589 [GRCh38]
Chr9:140051041 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.1340-38G>A |
single nucleotide variant |
not provided [RCV000841767]|not specified [RCV004594208] |
Chr9:137161251 [GRCh38]
Chr9:140055703 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.633G>A (p.Ala211=) |
single nucleotide variant |
GRIN1-related disorder [RCV004538151]|Intellectual disability, autosomal dominant 8 [RCV001085131]|not provided [RCV000839669] |
Chr9:137149071 [GRCh38]
Chr9:140043523 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1113C>T (p.His371=) |
single nucleotide variant |
Inborn genetic diseases [RCV002537185]|Intellectual disability, autosomal dominant 8 [RCV000804814] |
Chr9:137158523 [GRCh38]
Chr9:140052975 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_007327.4(GRIN1):c.1449G>A (p.Lys483=) |
single nucleotide variant |
Inborn genetic diseases [RCV002390965]|Intellectual disability, autosomal dominant 8 [RCV001448365] |
Chr9:137161398 [GRCh38]
Chr9:140055850 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2534G>A (p.Arg845Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000805319] |
Chr9:137163849 [GRCh38]
Chr9:140058301 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1806C>T (p.Thr602=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002068566]|not provided [RCV000840307] |
Chr9:137162458 [GRCh38]
Chr9:140056910 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.672-330A>G |
single nucleotide variant |
not provided [RCV000829150] |
Chr9:137156339 [GRCh38]
Chr9:140050791 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2414C>T (p.Pro805Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000814754]|not provided [RCV001759580] |
Chr9:137163639 [GRCh38]
Chr9:140058091 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.570+263G>C |
single nucleotide variant |
not provided [RCV000843564] |
Chr9:137146165 [GRCh38]
Chr9:140040617 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.571-1141G>A |
single nucleotide variant |
not provided [RCV000843568] |
Chr9:137147868 [GRCh38]
Chr9:140042320 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val) |
single nucleotide variant |
GRIN1-related disorder [RCV004528332]|Intellectual disability, autosomal dominant 8 [RCV002272383]|not provided [RCV000999297] |
Chr9:137163642 [GRCh38]
Chr9:140058094 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.351C>T (p.Pro117=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000975291] |
Chr9:137142105 [GRCh38]
Chr9:140036557 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.969-177G>A |
single nucleotide variant |
not provided [RCV000836949] |
Chr9:137158202 [GRCh38]
Chr9:140052654 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2328C>T (p.Ile776=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001518999]|not provided [RCV000840899] |
Chr9:137163325 [GRCh38]
Chr9:140057777 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.258+19G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002062210]|not provided [RCV000827371] |
Chr9:137139763 [GRCh38]
Chr9:140034215 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2333+3G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000815484] |
Chr9:137163333 [GRCh38]
Chr9:140057785 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:139766260-140186072)x3 |
copy number gain |
not provided [RCV000848688] |
Chr9:139766260..140186072 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.258+235C>T |
single nucleotide variant |
not provided [RCV000841560] |
Chr9:137139979 [GRCh38]
Chr9:140034431 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.1467+202T>C |
single nucleotide variant |
not provided [RCV000841567] |
Chr9:137161618 [GRCh38]
Chr9:140056070 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000851520] |
Chr9:137163815 [GRCh38]
Chr9:140058267 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_007327.4(GRIN1):c.1467+182C>T |
single nucleotide variant |
not provided [RCV000836950] |
Chr9:137161598 [GRCh38]
Chr9:140056050 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.907G>T (p.Asp303Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000821857] |
Chr9:137156976 [GRCh38]
Chr9:140051428 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2700G>A (p.Thr900=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000810634] |
Chr9:137165296 [GRCh38]
Chr9:140059748 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.12:g.(?_137139467)_(137167862_?)dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV001031414] |
Chr9:140033919..140062314 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.524C>T (p.Ala175Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000794160] |
Chr9:137145856 [GRCh38]
Chr9:140040308 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.259-203G>A |
single nucleotide variant |
not provided [RCV000836871] |
Chr9:137141810 [GRCh38]
Chr9:140036262 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.394-32A>G |
single nucleotide variant |
not provided [RCV000837175] |
Chr9:137145694 [GRCh38]
Chr9:140040146 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1467+160G>A |
single nucleotide variant |
not provided [RCV000841564] |
Chr9:137161576 [GRCh38]
Chr9:140056028 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.1468-219_1468-204del |
deletion |
not provided [RCV000841585] |
Chr9:137161692..137161707 [GRCh38]
Chr9:140056144..140056159 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2253G>A (p.Glu751=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001467625] |
Chr9:137163250 [GRCh38]
Chr9:140057702 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.968+274A>G |
single nucleotide variant |
not provided [RCV000827884] |
Chr9:137157311 [GRCh38]
Chr9:140051763 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2008C>T (p.Pro670Ser) |
single nucleotide variant |
not provided [RCV000999296] |
Chr9:137162734 [GRCh38]
Chr9:140057186 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1343G>A (p.Arg448His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001043544] |
Chr9:137161292 [GRCh38]
Chr9:140055744 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1782GGA[4] (p.Glu598del) |
microsatellite |
Intellectual disability, autosomal dominant 8 [RCV000988307] |
Chr9:137162432..137162434 [GRCh38]
Chr9:140056884..140056886 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.231G>A (p.Ser77=) |
single nucleotide variant |
not provided [RCV000999294] |
Chr9:137139717 [GRCh38]
Chr9:140034169 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 |
copy number gain |
not provided [RCV000847808] |
Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1340-17C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002071983]|not provided [RCV001544969] |
Chr9:137161272 [GRCh38]
Chr9:140055724 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.448G>A (p.Val150Met) |
single nucleotide variant |
GRIN1-related disorder [RCV004538474]|Intellectual disability, autosomal dominant 8 [RCV001226306] |
Chr9:137145780 [GRCh38]
Chr9:140040232 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.955C>A (p.Pro319Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001234196]|not provided [RCV005243486] |
Chr9:137157024 [GRCh38]
Chr9:140051476 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1255A>G (p.Thr419Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002418732]|Intellectual disability, autosomal dominant 8 [RCV001213684]|not specified [RCV005408753] |
Chr9:137161113 [GRCh38]
Chr9:140055565 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1761C>T (p.Gly587=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001224105] |
Chr9:137162413 [GRCh38]
Chr9:140056865 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2805T>A (p.His935Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002436906]|Intellectual disability, autosomal dominant 8 [RCV001231770] |
Chr9:137167515 [GRCh38]
Chr9:140061967 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.989A>G (p.Tyr330Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001222604] |
Chr9:137158399 [GRCh38]
Chr9:140052851 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.747C>A (p.Val249=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001226965] |
Chr9:137156744 [GRCh38]
Chr9:140051196 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.451T>C (p.Trp151Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001246963] |
Chr9:137145783 [GRCh38]
Chr9:140040235 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1334G>A (p.Gly445Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001249265]|Intellectual disability, autosomal dominant 8 [RCV004789495]|not provided [RCV003132357]|not specified [RCV004782686] |
Chr9:137161192 [GRCh38]
Chr9:140055644 [GRCh37]
Chr9:9q34.3 |
uncertain significance|not provided |
| NM_007327.4(GRIN1):c.1937C>A (p.Ser646Tyr) |
single nucleotide variant |
not provided [RCV003312752] |
Chr9:137162663 [GRCh38]
Chr9:140057115 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.952G>C (p.Gly318Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003272551]|Intellectual disability, autosomal dominant 8 [RCV003528455] |
Chr9:137157021 [GRCh38]
Chr9:140051473 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1851C>A (p.Ser617=) |
single nucleotide variant |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive [RCV001196920] |
Chr9:137162503 [GRCh38]
Chr9:140056955 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1864+20G>C |
single nucleotide variant |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive [RCV001197865] |
Chr9:137162536 [GRCh38]
Chr9:140056988 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1864+15G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003106386] |
Chr9:137162531 [GRCh38]
Chr9:140056983 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1898G>T (p.Gly633Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003127357] |
Chr9:137162624 [GRCh38]
Chr9:140057076 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.793+23dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV003104661] |
Chr9:137156809..137156810 [GRCh38]
Chr9:140051261..140051262 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.1658C>T (p.Ser553Leu) |
single nucleotide variant |
not provided [RCV001576847] |
Chr9:137162197 [GRCh38]
Chr9:140056649 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.935_940dup (p.Asn313_Ile314insThrAsn) |
duplication |
Intellectual disability, autosomal dominant 8 [RCV003107024] |
Chr9:137156998..137156999 [GRCh38]
Chr9:140051450..140051451 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1198-231dup |
duplication |
not provided [RCV001569951] |
Chr9:137160818..137160819 [GRCh38]
Chr9:140055270..140055271 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.968+218G>A |
single nucleotide variant |
not provided [RCV001578129] |
Chr9:137157255 [GRCh38]
Chr9:140051707 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q34.3(chr9:140033837-141111544)x1 |
copy number loss |
Kleefstra syndrome 1 [RCV004813382] |
Chr9:140033837..141111544 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139694299-140792635)x1 |
copy number loss |
Kleefstra syndrome 1 [RCV004813384] |
Chr9:139694299..140792635 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139937332-141111829)x1 |
copy number loss |
Kleefstra syndrome 1 [RCV004813390] |
Chr9:139937332..141111829 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.670A>G (p.Ser224Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV004813436] |
Chr9:137149108 [GRCh38]
Chr9:140043560 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:138557721-141138302)x1 |
copy number loss |
Kleefstra syndrome 1 [RCV004813392] |
Chr9:138557721..141138302 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.394-38G>A |
single nucleotide variant |
not provided [RCV001568497] |
Chr9:137145688 [GRCh38]
Chr9:140040140 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1198-231C>G |
single nucleotide variant |
not provided [RCV001576986] |
Chr9:137160825 [GRCh38]
Chr9:140055277 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1902G>A (p.Met634Ile) |
single nucleotide variant |
not provided [RCV001592303] |
Chr9:137162628 [GRCh38]
Chr9:140057080 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2481G>A (p.Gly827=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002579485]|not provided [RCV001594254] |
Chr9:137163796 [GRCh38]
Chr9:140058248 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1467+223T>C |
single nucleotide variant |
not provided [RCV001558115] |
Chr9:137161639 [GRCh38]
Chr9:140056091 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.-288CCG[5] |
microsatellite |
not provided [RCV001563314] |
Chr9:137139198..137139200 [GRCh38]
Chr9:140033650..140033652 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1340-17delinsGTAA |
indel |
not provided [RCV001640042] |
Chr9:137161272 [GRCh38]
Chr9:140055724 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.1468-219_1468-218del |
deletion |
not provided [RCV001592551] |
Chr9:137161705..137161706 [GRCh38]
Chr9:140056157..140056158 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2443G>T (p.Gly815Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002032570]|not provided [RCV001547452] |
Chr9:137163668 [GRCh38]
Chr9:140058120 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.507C>T (p.Asp169=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000870757]|not provided [RCV001593091] |
Chr9:137145839 [GRCh38]
Chr9:140040291 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.1245G>A (p.Leu415=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000940302] |
Chr9:137161103 [GRCh38]
Chr9:140055555 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.403C>T (p.Leu135=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV000865614]|not provided [RCV001560984] |
Chr9:137145735 [GRCh38]
Chr9:140040187 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1468-10C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001447111] |
Chr9:137161914 [GRCh38]
Chr9:140056366 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2614C>G (p.Pro872Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001242122] |
Chr9:137165210 [GRCh38]
Chr9:140059662 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_007327.4(GRIN1):c.1114-3C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001035225] |
Chr9:137158618 [GRCh38]
Chr9:140053070 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.570G>A (p.Lys190=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001242814] |
Chr9:137145902 [GRCh38]
Chr9:140040354 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.344G>A (p.Arg115His) |
single nucleotide variant |
Inborn genetic diseases [RCV001266128]|Intellectual disability, autosomal dominant 8 [RCV001223448] |
Chr9:137142098 [GRCh38]
Chr9:140036550 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1939T>C (p.Tyr647His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001175149] |
Chr9:137162665 [GRCh38]
Chr9:140057117 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.2472C>A (p.Ile824=) |
single nucleotide variant |
not provided [RCV001172197] |
Chr9:137163787 [GRCh38]
Chr9:140058239 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2414del (p.Pro805fs) |
deletion |
Inborn genetic diseases [RCV002454261]|Intellectual disability, autosomal dominant 8 [RCV001034408] |
Chr9:137163636 [GRCh38]
Chr9:140058088 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely benign |
| NM_007327.4(GRIN1):c.528T>A (p.Ala176=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001422017] |
Chr9:137145860 [GRCh38]
Chr9:140040312 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q34.3(chr9:139559141-141093906)x1 |
copy number loss |
Kleefstra syndrome 1 [RCV004813391] |
Chr9:139559141..141093906 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.394-267A>G |
single nucleotide variant |
not provided [RCV001556609] |
Chr9:137145459 [GRCh38]
Chr9:140039911 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1198-176T>C |
single nucleotide variant |
not provided [RCV001556828] |
Chr9:137160880 [GRCh38]
Chr9:140055332 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2381G>C (p.Arg794Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002857858] |
Chr9:137163606 [GRCh38]
Chr9:140058058 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1283del (p.Gly428fs) |
deletion |
Intellectual disability, autosomal dominant 8 [RCV002466809] |
Chr9:137161140 [GRCh38]
Chr9:140055592 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2693_2694del (p.Lys898fs) |
deletion |
not provided [RCV002469787] |
Chr9:137165288..137165289 [GRCh38]
Chr9:140059740..140059741 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.*14C>T |
single nucleotide variant |
not provided [RCV001555979] |
Chr9:137167541 [GRCh38]
Chr9:140061993 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.394-307G>A |
single nucleotide variant |
not provided [RCV001569351] |
Chr9:137145419 [GRCh38]
Chr9:140039871 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1255A>C (p.Thr419Pro) |
single nucleotide variant |
not provided [RCV003327794] |
Chr9:137161113 [GRCh38]
Chr9:140055565 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2327T>C (p.Ile776Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005094859]|not provided [RCV001664953] |
Chr9:137163324 [GRCh38]
Chr9:140057776 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.671+168G>A |
single nucleotide variant |
not provided [RCV001581020] |
Chr9:137149277 [GRCh38]
Chr9:140043729 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.672-324G>A |
single nucleotide variant |
not provided [RCV001686630] |
Chr9:137156345 [GRCh38]
Chr9:140050797 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.1012G>T (p.Val338Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001034249] |
Chr9:137158422 [GRCh38]
Chr9:140052874 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1340-1G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001034252] |
Chr9:137161288 [GRCh38]
Chr9:140055740 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q34.3(chr9:138225001-141015001) |
copy number loss |
Microcephaly [RCV001252947] |
Chr9:138225001..141015001 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1922T>C (p.Met641Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001027867] |
Chr9:137162648 [GRCh38]
Chr9:140057100 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV001265786]|Intellectual disability, autosomal dominant 8 [RCV001004900]|not provided [RCV001267916]|not specified [RCV002249621] |
Chr9:137162705 [GRCh38]
Chr9:140057157 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.968+151C>T |
single nucleotide variant |
not provided [RCV001541033] |
Chr9:137157188 [GRCh38]
Chr9:140051640 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.394-215G>A |
single nucleotide variant |
not provided [RCV001589854] |
Chr9:137145511 [GRCh38]
Chr9:140039963 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_138594085)_(140062314_?)dup |
duplication |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001033771] |
Chr9:138594085..140062314 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.421G>A (p.Val141Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001067257] |
Chr9:137145753 [GRCh38]
Chr9:140040205 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NC_000009.11:g.(?_138645763)_(140729425_?)del |
deletion |
Developmental and epileptic encephalopathy, 14 [RCV001362982]|Kleefstra syndrome 1 [RCV001031921] |
Chr9:138645763..140729425 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.802G>A (p.Gly268Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001034474] |
Chr9:137156871 [GRCh38]
Chr9:140051323 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.610G>A (p.Val204Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002553816]|Intellectual disability, autosomal dominant 8 [RCV001056494]|not provided [RCV001664648] |
Chr9:137149048 [GRCh38]
Chr9:140043500 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.1359G>C (p.Gln453His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001053069]|not provided [RCV003332291] |
Chr9:137161308 [GRCh38]
Chr9:140055760 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2334-10C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001220451] |
Chr9:137163549 [GRCh38]
Chr9:140058001 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1468-8C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001040332] |
Chr9:137161916 [GRCh38]
Chr9:140056368 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_007327.4(GRIN1):c.35T>C (p.Leu12Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001232348] |
Chr9:137139521 [GRCh38]
Chr9:140033973 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.992C>T (p.Ala331Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003283870]|Intellectual disability, autosomal dominant 8 [RCV001033956] |
Chr9:137158402 [GRCh38]
Chr9:140052854 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_007327.4(GRIN1):c.2333+6T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001034136] |
Chr9:137163336 [GRCh38]
Chr9:140057788 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2690C>T (p.Ser897Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001034221]|not provided [RCV003153896] |
Chr9:137165286 [GRCh38]
Chr9:140059738 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1335C>T (p.Gly445=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001034389]|not provided [RCV004546593] |
Chr9:137161193 [GRCh38]
Chr9:140055645 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.1168C>G (p.Arg390Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001233017]|not specified [RCV005408767] |
Chr9:137158675 [GRCh38]
Chr9:140053127 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NC_000009.12:g.(?_137139467)_(137834973_?)del |
deletion |
Kleefstra syndrome 1 [RCV001031572] |
Chr9:140033919..140729425 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1933G>T (p.Ala645Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001175148]|not provided [RCV002293250] |
Chr9:137162659 [GRCh38]
Chr9:140057111 [GRCh37]
Chr9:9q34.3 |
pathogenic|not provided |
| NM_007327.4(GRIN1):c.2654C>T (p.Ser885Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001042098] |
Chr9:137165250 [GRCh38]
Chr9:140059702 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.993G>A (p.Ala331=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001216423] |
Chr9:137158403 [GRCh38]
Chr9:140052855 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1248T>A (p.Ser416Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001056630] |
Chr9:137161106 [GRCh38]
Chr9:140055558 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1716G>A (p.Val572=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001034402] |
Chr9:137162255 [GRCh38]
Chr9:140056707 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001063640] |
Chr9:137163759 [GRCh38]
Chr9:140058211 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1913G>C (p.Gly638Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001253082] |
Chr9:137162639 [GRCh38]
Chr9:140057091 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.1667A>G (p.Gln556Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001253633] |
Chr9:137162206 [GRCh38]
Chr9:140056658 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.2443+10_2443+12del |
deletion |
Intellectual disability [RCV001252249] |
Chr9:137163676..137163678 [GRCh38]
Chr9:140058128..140058130 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2329del (p.Leu777fs) |
deletion |
Intellectual disability [RCV001260635] |
Chr9:137163325 [GRCh38]
Chr9:140057777 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_139018777)_(141018984_?)del |
deletion |
Kleefstra syndrome 1 [RCV001267844] |
Chr9:139018777..141018984 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139776707-140234193)x3 |
copy number gain |
not provided [RCV001259536] |
Chr9:139776707..140234193 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr) |
single nucleotide variant |
Intellectual disability [RCV001260627]|Intellectual disability, autosomal dominant 8 [RCV002541569]|not provided [RCV002293252] |
Chr9:137162895 [GRCh38]
Chr9:140057347 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|not provided |
| NM_007327.4(GRIN1):c.160G>A (p.Gly54Ser) |
single nucleotide variant |
not provided [RCV002280430] |
Chr9:137139646 [GRCh38]
Chr9:140034098 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2444-2A>G |
single nucleotide variant |
Intellectual disability [RCV001260634]|Intellectual disability, autosomal dominant 8 [RCV005232223] |
Chr9:137163757 [GRCh38]
Chr9:140058209 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV001265679]|Intellectual disability [RCV001260626]|Intellectual disability, autosomal dominant 8 [RCV003883595] |
Chr9:137162504 [GRCh38]
Chr9:140056956 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.711G>A (p.Met237Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001262643] |
Chr9:137156708 [GRCh38]
Chr9:140051160 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1324_1325dup (p.Ser443fs) |
microsatellite |
Intellectual disability, autosomal dominant 8 [RCV002003197] |
Chr9:137161179..137161180 [GRCh38]
Chr9:140055631..140055632 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.5G>A (p.Ser2Asn) |
single nucleotide variant |
not provided [RCV002280507] |
Chr9:137139491 [GRCh38]
Chr9:140033943 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1366T>C (p.Tyr456His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005096014]|not provided [RCV002280270] |
Chr9:137161315 [GRCh38]
Chr9:140055767 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1744C>A (p.Arg582Ser) |
single nucleotide variant |
Intellectual disability [RCV001260633] |
Chr9:137162283 [GRCh38]
Chr9:140056735 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.394-247_394-188del |
deletion |
not provided [RCV001581209] |
Chr9:137145460..137145519 [GRCh38]
Chr9:140039912..140039971 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1452C>A (p.Phe484Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001320411]|not provided [RCV004820192] |
Chr9:137161401 [GRCh38]
Chr9:140055853 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1483A>G (p.Lys495Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001337089] |
Chr9:137161939 [GRCh38]
Chr9:140056391 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1376G>A (p.Cys459Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001337088] |
Chr9:137161325 [GRCh38]
Chr9:140055777 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.794-11T>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001332981] |
Chr9:137156852 [GRCh38]
Chr9:140051304 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_007327.4(GRIN1):c.1037G>A (p.Arg346Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001306236] |
Chr9:137158447 [GRCh38]
Chr9:140052899 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.799C>A (p.Leu267Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004629601]|Intellectual disability, autosomal dominant 8 [RCV001351613] |
Chr9:137156868 [GRCh38]
Chr9:140051320 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.41_43del (p.Ser14del) |
deletion |
Intellectual disability, autosomal dominant 8 [RCV001300754] |
Chr9:137139525..137139527 [GRCh38]
Chr9:140033977..140033979 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| Single allele |
duplication |
not provided [RCV001449871] |
Chr9:140051120..140061979 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2172-3C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001372587] |
Chr9:137163166 [GRCh38]
Chr9:140057618 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_138594085)_(140062314_?)dup |
duplication |
Developmental and epileptic encephalopathy, 14 [RCV001305481]|Intellectual disability, autosomal dominant 8 [RCV001033771] |
Chr9:138594085..140062314 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1621C>T (p.Leu541=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001395516] |
Chr9:137162077 [GRCh38]
Chr9:140056529 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.992C>A (p.Ala331Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001351392] |
Chr9:137158402 [GRCh38]
Chr9:140052854 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.2720G>C (p.Gly907Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001360211] |
Chr9:137167430 [GRCh38]
Chr9:140061882 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2320C>T (p.Leu774=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001415321] |
Chr9:137163317 [GRCh38]
Chr9:140057769 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2689T>A (p.Ser897Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001303943] |
Chr9:137165285 [GRCh38]
Chr9:140059737 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| Single allele |
duplication |
not provided [RCV001449870] |
Chr9:140033938..140040354 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:139284464-141018984) |
copy number loss |
Cryptorchidism [RCV001352666] |
Chr9:139284464..141018984 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.2516G>A (p.Arg839Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001303295] |
Chr9:137163831 [GRCh38]
Chr9:140058283 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2700+6G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001299980] |
Chr9:137165302 [GRCh38]
Chr9:140059754 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| Single allele |
deletion |
Epilepsy [RCV001293379] |
Chr9:139764148..141066491 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.466C>A (p.Arg156Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV005348412]|Intellectual disability, autosomal dominant 8 [RCV001300590] |
Chr9:137145798 [GRCh38]
Chr9:140040250 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1403G>A (p.Arg468Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001305291] |
Chr9:137161352 [GRCh38]
Chr9:140055804 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1961T>C (p.Phe654Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001316031] |
Chr9:137162687 [GRCh38]
Chr9:140057139 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1339C>T (p.Pro447Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001366564]|not provided [RCV001508288] |
Chr9:137161197 [GRCh38]
Chr9:140055649 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1169G>A (p.Arg390Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004036783]|Intellectual disability, autosomal dominant 8 [RCV001360887] |
Chr9:137158676 [GRCh38]
Chr9:140053128 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.334G>A (p.Gly112Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001370242]|not specified [RCV003331136] |
Chr9:137142088 [GRCh38]
Chr9:140036540 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1538T>A (p.Ile513Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001337352] |
Chr9:137161994 [GRCh38]
Chr9:140056446 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.513C>T (p.His171=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001396138]|not provided [RCV001779164] |
Chr9:137145845 [GRCh38]
Chr9:140040297 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.381C>T (p.Ile127=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001482076] |
Chr9:137142135 [GRCh38]
Chr9:140036587 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2021A>T (p.Asn674Ile) |
single nucleotide variant |
not provided [RCV001508289] |
Chr9:137162853 [GRCh38]
Chr9:140057305 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_007327.4(GRIN1):c.968+7G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001479241] |
Chr9:137157044 [GRCh38]
Chr9:140051496 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2052G>A (p.Val684=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001450865] |
Chr9:137162884 [GRCh38]
Chr9:140057336 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2334G>A (p.Lys778=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001522683] |
Chr9:137163559 [GRCh38]
Chr9:140058011 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2583C>T (p.Asn861=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001394371] |
Chr9:137163898 [GRCh38]
Chr9:140058350 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1830C>T (p.Ser610=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001487703] |
Chr9:137162482 [GRCh38]
Chr9:140056934 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2532C>T (p.Arg844=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001473559] |
Chr9:137163847 [GRCh38]
Chr9:140058299 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1751+8C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001470735] |
Chr9:137162298 [GRCh38]
Chr9:140056750 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_140033939)_(140034216_?)dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV001488309] |
Chr9:140033939..140034216 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1422C>T (p.Tyr474=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001455348] |
Chr9:137161371 [GRCh38]
Chr9:140055823 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.654C>T (p.Val218=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001482860] |
Chr9:137149092 [GRCh38]
Chr9:140043544 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1632+17_1632+23del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV001522305]|not provided [RCV001647318] |
Chr9:137162101..137162107 [GRCh38]
Chr9:140056553..140056559 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2178G>A (p.Leu726=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001465919] |
Chr9:137163175 [GRCh38]
Chr9:140057627 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1921A>G (p.Met641Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001390786] |
Chr9:137162647 [GRCh38]
Chr9:140057099 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_007327.4(GRIN1):c.1500G>C (p.Gly500=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001464093] |
Chr9:137161956 [GRCh38]
Chr9:140056408 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.360G>A (p.Gly120=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001393468] |
Chr9:137142114 [GRCh38]
Chr9:140036566 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1398G>A (p.Leu466=) |
single nucleotide variant |
Inborn genetic diseases [RCV002388544]|Intellectual disability, autosomal dominant 8 [RCV001500925] |
Chr9:137161347 [GRCh38]
Chr9:140055799 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1114-8dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV001489859] |
Chr9:137158612..137158613 [GRCh38]
Chr9:140053064..140053065 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1572G>T (p.Ala524=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001428733]|not provided [RCV004809598] |
Chr9:137162028 [GRCh38]
Chr9:140056480 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.9C>T (p.Thr3=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001446005] |
Chr9:137139495 [GRCh38]
Chr9:140033947 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.192C>T (p.Ser64=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001423395] |
Chr9:137139678 [GRCh38]
Chr9:140034130 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2217G>A (p.Glu739=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001449006] |
Chr9:137163214 [GRCh38]
Chr9:140057666 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.968+10G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001418682] |
Chr9:137157047 [GRCh38]
Chr9:140051499 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1488G>A (p.Lys496=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001407525] |
Chr9:137161944 [GRCh38]
Chr9:140056396 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1197+8C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001441921] |
Chr9:137158712 [GRCh38]
Chr9:140053164 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2598G>A (p.Lys866=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001429401] |
Chr9:137165194 [GRCh38]
Chr9:140059646 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1263G>A (p.Lys421=) |
single nucleotide variant |
Inborn genetic diseases [RCV002449181]|Intellectual disability, autosomal dominant 8 [RCV001437590] |
Chr9:137161121 [GRCh38]
Chr9:140055573 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.303C>T (p.His101=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001431310]|not provided [RCV005428261] |
Chr9:137142057 [GRCh38]
Chr9:140036509 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2515C>A (p.Arg839=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001431703] |
Chr9:137163830 [GRCh38]
Chr9:140058282 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2424T>C (p.Leu808=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001403730] |
Chr9:137163649 [GRCh38]
Chr9:140058101 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.621G>C (p.Leu207=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001445360] |
Chr9:137149059 [GRCh38]
Chr9:140043511 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.609C>T (p.Asn203=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001404081] |
Chr9:137149047 [GRCh38]
Chr9:140043499 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2171+10G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001411737] |
Chr9:137163013 [GRCh38]
Chr9:140057465 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1650G>T (p.Thr550=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001440725]|not provided [RCV005428282] |
Chr9:137162189 [GRCh38]
Chr9:140056641 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2443+7T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001411833] |
Chr9:137163675 [GRCh38]
Chr9:140058127 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.286C>T (p.Pro96Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001454708] |
Chr9:137142040 [GRCh38]
Chr9:140036492 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.264C>T (p.Tyr88=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002539662]|not provided [RCV001671208] |
Chr9:137142018 [GRCh38]
Chr9:140036470 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_007327.4(GRIN1):c.1131G>A (p.Arg377=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001516170] |
Chr9:137158638 [GRCh38]
Chr9:140053090 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2560G>T (p.Ala854Ser) |
single nucleotide variant |
not provided [RCV001538892] |
Chr9:137163875 [GRCh38]
Chr9:140058327 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.738G>A (p.Val246=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001487425] |
Chr9:137156735 [GRCh38]
Chr9:140051187 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.394-22G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001703158]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive [RCV001702239]|not provided [RCV001684526]|not specified [RCV004594504] |
Chr9:137145704 [GRCh38]
Chr9:140040156 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.393+156G>A |
single nucleotide variant |
not provided [RCV001590114] |
Chr9:137142303 [GRCh38]
Chr9:140036755 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.393+327_393+337del |
microsatellite |
not provided [RCV001666059] |
Chr9:137142460..137142470 [GRCh38]
Chr9:140036912..140036922 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2562C>T (p.Ala854=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002072305]|not provided [RCV001583495] |
Chr9:137163877 [GRCh38]
Chr9:140058329 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.*8C>T |
single nucleotide variant |
not provided [RCV001540994] |
Chr9:137167535 [GRCh38]
Chr9:140061987 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.705C>A (p.Ala235=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001481658] |
Chr9:137156702 [GRCh38]
Chr9:140051154 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.996T>C (p.Asp332=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001506424] |
Chr9:137158406 [GRCh38]
Chr9:140052858 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.969-5C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001451140] |
Chr9:137158374 [GRCh38]
Chr9:140052826 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1818C>T (p.Ala606=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001442531] |
Chr9:137162470 [GRCh38]
Chr9:140056922 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2352C>T (p.Phe784=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001458449] |
Chr9:137163577 [GRCh38]
Chr9:140058029 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.180C>T (p.Leu60=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001480252] |
Chr9:137139666 [GRCh38]
Chr9:140034118 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2535G>A (p.Arg845=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001464524] |
Chr9:137163850 [GRCh38]
Chr9:140058302 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1467+7_1467+14del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV001458864] |
Chr9:137161420..137161427 [GRCh38]
Chr9:140055872..140055879 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1575G>A (p.Gln525=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001425832] |
Chr9:137162031 [GRCh38]
Chr9:140056483 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_140059618)_(140062314_?)dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV001404512] |
Chr9:140059618..140062314 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.571-5C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001476980] |
Chr9:137149004 [GRCh38]
Chr9:140043456 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2718C>T (p.Arg906=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001504127] |
Chr9:137167428 [GRCh38]
Chr9:140061880 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.78C>T (p.Ile26=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001398893]|not provided [RCV001545091] |
Chr9:137139564 [GRCh38]
Chr9:140034016 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1641C>T (p.Pro547=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001495167] |
Chr9:137162180 [GRCh38]
Chr9:140056632 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1184C>G (p.Ser395Cys) |
single nucleotide variant |
Autism [RCV001726712] |
Chr9:137158691 [GRCh38]
Chr9:140053143 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2723C>G (p.Ala908Gly) |
single nucleotide variant |
not provided [RCV001755194] |
Chr9:137167433 [GRCh38]
Chr9:140061885 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1036C>T (p.Arg346Trp) |
single nucleotide variant |
not specified [RCV002238631] |
Chr9:137158446 [GRCh38]
Chr9:140052898 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.230C>T (p.Ser77Leu) |
single nucleotide variant |
not provided [RCV002254121] |
Chr9:137139716 [GRCh38]
Chr9:140034168 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2386C>G (p.Gln796Glu) |
single nucleotide variant |
not provided [RCV001769317] |
Chr9:137163611 [GRCh38]
Chr9:140058063 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1271T>C (p.Phe424Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642971]|not provided [RCV001767090] |
Chr9:137161129 [GRCh38]
Chr9:140055581 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.103A>G (p.Thr35Ala) |
single nucleotide variant |
not provided [RCV001752253] |
Chr9:137139589 [GRCh38]
Chr9:140034041 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.794-9C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002074025]|not provided [RCV001774712] |
Chr9:137156854 [GRCh38]
Chr9:140051306 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1616C>A (p.Thr539Asn) |
single nucleotide variant |
not provided [RCV001771476] |
Chr9:137162072 [GRCh38]
Chr9:140056524 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1567C>T (p.Arg523Cys) |
single nucleotide variant |
not provided [RCV001754651] |
Chr9:137162023 [GRCh38]
Chr9:140056475 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2468G>A (p.Gly823Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005094938]|not provided [RCV001751877] |
Chr9:137163783 [GRCh38]
Chr9:140058235 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1616C>T (p.Thr539Ile) |
single nucleotide variant |
not provided [RCV001773903] |
Chr9:137162072 [GRCh38]
Chr9:140056524 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2815T>C (p.Ter939Arg) |
single nucleotide variant |
not provided [RCV001752413] |
Chr9:137167525 [GRCh38]
Chr9:140061977 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1485G>C (p.Lys495Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001868570]|not provided [RCV001774245] |
Chr9:137161941 [GRCh38]
Chr9:140056393 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.2172C>T (p.Asn724=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002540432]|not provided [RCV001752693] |
Chr9:137163169 [GRCh38]
Chr9:140057621 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2442C>G (p.Ala814=) |
single nucleotide variant |
not provided [RCV001774681] |
Chr9:137163667 [GRCh38]
Chr9:140058119 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.183T>A (p.Asn61Lys) |
single nucleotide variant |
not provided [RCV001761341] |
Chr9:137139669 [GRCh38]
Chr9:140034121 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2014-5T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003772042]|not provided [RCV001771583] |
Chr9:137162841 [GRCh38]
Chr9:140057293 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.2690C>G (p.Ser897Cys) |
single nucleotide variant |
not provided [RCV001763676] |
Chr9:137165286 [GRCh38]
Chr9:140059738 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1950C>A (p.Asn650Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001800228] |
Chr9:137162676 [GRCh38]
Chr9:140057128 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_007327.4(GRIN1):c.2589+5G>A |
single nucleotide variant |
not provided [RCV001814926] |
Chr9:137163909 [GRCh38]
Chr9:140058361 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.381C>A (p.Ile127=) |
single nucleotide variant |
not specified [RCV001817533] |
Chr9:137142135 [GRCh38]
Chr9:140036587 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2473G>C (p.Val825Leu) |
single nucleotide variant |
not provided [RCV004798199] |
Chr9:137163788 [GRCh38]
Chr9:140058240 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1795G>C (p.Asp599His) |
single nucleotide variant |
not provided [RCV004798653] |
Chr9:137162447 [GRCh38]
Chr9:140056899 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1850C>T (p.Ser617Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001809023] |
Chr9:137162502 [GRCh38]
Chr9:140056954 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.2443G>C (p.Gly815Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001999807] |
Chr9:137163668 [GRCh38]
Chr9:140058120 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.2311A>G (p.Asn771Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002039316] |
Chr9:137163308 [GRCh38]
Chr9:140057760 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1483AAG[1] (p.Lys496del) |
microsatellite |
Intellectual disability, autosomal dominant 8 [RCV001875564] |
Chr9:137161939..137161941 [GRCh38]
Chr9:140056391..140056393 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1113+5G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001871088] |
Chr9:137158528 [GRCh38]
Chr9:140052980 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2380C>G (p.Arg794Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001994139] |
Chr9:137163605 [GRCh38]
Chr9:140058057 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1579A>C (p.Ile527Leu) |
single nucleotide variant |
not provided [RCV001843619] |
Chr9:137162035 [GRCh38]
Chr9:140056487 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1445G>T (p.Gly482Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002037096]|not provided [RCV005414612] |
Chr9:137161394 [GRCh38]
Chr9:140055846 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.560G>A (p.Arg187His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002038702] |
Chr9:137145892 [GRCh38]
Chr9:140040344 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1912G>A (p.Gly638Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002045230] |
Chr9:137162638 [GRCh38]
Chr9:140057090 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.469G>A (p.Val157Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002032312] |
Chr9:137145801 [GRCh38]
Chr9:140040253 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:138740078-141020389) |
copy number loss |
not specified [RCV002052850] |
Chr9:138740078..141020389 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139563039-140310033) |
copy number loss |
not specified [RCV002052853] |
Chr9:139563039..140310033 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1642C>G (p.Arg548Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002023246] |
Chr9:137162181 [GRCh38]
Chr9:140056633 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1468-18G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002035807] |
Chr9:137161906 [GRCh38]
Chr9:140056358 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1622T>C (p.Leu541Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002043950] |
Chr9:137162078 [GRCh38]
Chr9:140056530 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) |
copy number gain |
not specified [RCV002053823] |
Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139282807-141020389) |
copy number loss |
not specified [RCV002052852] |
Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:140043049-141020389) |
copy number loss |
not specified [RCV002052854] |
Chr9:140043049..141020389 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.493C>T (p.Leu165=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002050057] |
Chr9:137145825 [GRCh38]
Chr9:140040277 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.529C>T (p.Gln177Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002006038] |
Chr9:137145861 [GRCh38]
Chr9:140040313 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.430T>G (p.Tyr144Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002026339]|not provided [RCV004729047] |
Chr9:137145762 [GRCh38]
Chr9:140040214 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1928T>C (p.Ile643Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002002870] |
Chr9:137162654 [GRCh38]
Chr9:140057106 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.688A>G (p.Thr230Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002008260] |
Chr9:137156685 [GRCh38]
Chr9:140051137 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2576G>A (p.Arg859Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002024884]|not provided [RCV003886549] |
Chr9:137163891 [GRCh38]
Chr9:140058343 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1052A>G (p.Tyr351Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002025451] |
Chr9:137158462 [GRCh38]
Chr9:140052914 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.394-1G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy 101 [RCV002051602] |
Chr9:137145725 [GRCh38]
Chr9:140040177 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.394-20C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001982390] |
Chr9:137145706 [GRCh38]
Chr9:140040158 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.416G>A (p.Arg139His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001897517]|not provided [RCV005412299] |
Chr9:137145748 [GRCh38]
Chr9:140040200 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1136T>A (p.Ile379Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001928366] |
Chr9:137158643 [GRCh38]
Chr9:140053095 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.822C>T (p.Gly274=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001898901]|not provided [RCV003151869] |
Chr9:137156891 [GRCh38]
Chr9:140051343 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1550T>C (p.Leu517Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002397805]|Intellectual disability, autosomal dominant 8 [RCV001930011] |
Chr9:137162006 [GRCh38]
Chr9:140056458 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1332G>A (p.Pro444=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001957180] |
Chr9:137161190 [GRCh38]
Chr9:140055642 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.570+17C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001957750] |
Chr9:137145919 [GRCh38]
Chr9:140040371 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1084G>A (p.Val362Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001968912] |
Chr9:137158494 [GRCh38]
Chr9:140052946 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2285_2290del (p.Met762_Arg763del) |
deletion |
Intellectual disability, autosomal dominant 8 [RCV001937796] |
Chr9:137163279..137163284 [GRCh38]
Chr9:140057731..140057736 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2013+16G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001938521] |
Chr9:137162755 [GRCh38]
Chr9:140057207 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1198-6C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001912252] |
Chr9:137161050 [GRCh38]
Chr9:140055502 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_140051101)_(140061979_?)dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV001943022] |
Chr9:140051101..140061979 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1348A>G (p.Thr450Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001889596] |
Chr9:137161297 [GRCh38]
Chr9:140055749 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.820G>A (p.Gly274Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001891309] |
Chr9:137156889 [GRCh38]
Chr9:140051341 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NC_000009.11:g.(?_139981452)_(140040374_?)dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV001922891] |
Chr9:139981452..140040374 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2005G>C (p.Asp669His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001954055] |
Chr9:137162731 [GRCh38]
Chr9:140057183 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2438T>C (p.Met813Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001984992] |
Chr9:137163663 [GRCh38]
Chr9:140058115 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2105T>C (p.Met702Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001926069]|not provided [RCV004820219] |
Chr9:137162937 [GRCh38]
Chr9:140057389 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1788G>A (p.Glu596=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001955618] |
Chr9:137162440 [GRCh38]
Chr9:140056892 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.892_894del (p.Lys298del) |
deletion |
Intellectual disability, autosomal dominant 8 [RCV001902503]|not provided [RCV003225198] |
Chr9:137156959..137156961 [GRCh38]
Chr9:140051411..140051413 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1613T>C (p.Leu538Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001989469] |
Chr9:137162069 [GRCh38]
Chr9:140056521 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.879C>G (p.His293Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001920916]|not provided [RCV003134241] |
Chr9:137156948 [GRCh38]
Chr9:140051400 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_007327.4(GRIN1):c.1937C>G (p.Ser646Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001893078] |
Chr9:137162663 [GRCh38]
Chr9:140057115 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.310C>T (p.Pro104Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001977465] |
Chr9:137142064 [GRCh38]
Chr9:140036516 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_140036445)_(140040374_?)dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV001883367] |
Chr9:140036445..140040374 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.907G>A (p.Asp303Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001906347]|not provided [RCV003227046] |
Chr9:137156976 [GRCh38]
Chr9:140051428 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1273A>C (p.Thr425Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001883483] |
Chr9:137161131 [GRCh38]
Chr9:140055583 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2170A>T (p.Asn724Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001931522]|not specified [RCV002509723] |
Chr9:137163002 [GRCh38]
Chr9:140057454 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1010G>A (p.Arg337His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV001952142] |
Chr9:137158420 [GRCh38]
Chr9:140052872 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1865-16C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002185573] |
Chr9:137162575 [GRCh38]
Chr9:140057027 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1467+19G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002126900] |
Chr9:137161435 [GRCh38]
Chr9:140055887 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.700G>A (p.Ala234Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002188752]|not provided [RCV003314721] |
Chr9:137156697 [GRCh38]
Chr9:140051149 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_007327.4(GRIN1):c.394-12C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002104422] |
Chr9:137145714 [GRCh38]
Chr9:140040166 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1467+12G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002146875] |
Chr9:137161428 [GRCh38]
Chr9:140055880 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.195C>T (p.Val65=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002165148] |
Chr9:137139681 [GRCh38]
Chr9:140034133 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2472C>T (p.Ile824=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002112138] |
Chr9:137163787 [GRCh38]
Chr9:140058239 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1467G>T (p.Arg489=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002209488] |
Chr9:137161416 [GRCh38]
Chr9:140055868 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1865-17C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002209500] |
Chr9:137162574 [GRCh38]
Chr9:140057026 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.615G>A (p.Thr205=) |
single nucleotide variant |
Inborn genetic diseases [RCV002352884]|Intellectual disability, autosomal dominant 8 [RCV002104495] |
Chr9:137149053 [GRCh38]
Chr9:140043505 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1099T>C (p.Tyr367His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002124417] |
Chr9:137158509 [GRCh38]
Chr9:140052961 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.394-20C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002087604] |
Chr9:137145706 [GRCh38]
Chr9:140040158 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.308C>T (p.Thr103Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002148903] |
Chr9:137142062 [GRCh38]
Chr9:140036514 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1664T>C (p.Met555Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002226577] |
Chr9:137162203 [GRCh38]
Chr9:140056655 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.394-12C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002112520] |
Chr9:137145714 [GRCh38]
Chr9:140040166 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1340-15C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002192833] |
Chr9:137161274 [GRCh38]
Chr9:140055726 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2334-8A>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002075418] |
Chr9:137163551 [GRCh38]
Chr9:140058003 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.394-16C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002110141] |
Chr9:137145710 [GRCh38]
Chr9:140040162 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1752-9G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002209112] |
Chr9:137162395 [GRCh38]
Chr9:140056847 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1865-11C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002185066] |
Chr9:137162580 [GRCh38]
Chr9:140057032 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1668G>T (p.Gln556His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002250030] |
Chr9:137162207 [GRCh38]
Chr9:140056659 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1832G>T (p.Trp611Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002250031] |
Chr9:137162484 [GRCh38]
Chr9:140056936 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.249C>A (p.Ile83=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002189123] |
Chr9:137139735 [GRCh38]
Chr9:140034187 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1197+9C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002189245] |
Chr9:137158713 [GRCh38]
Chr9:140053165 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.939C>T (p.Asn313=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002089225] |
Chr9:137157008 [GRCh38]
Chr9:140051460 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1865-13del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV002107710] |
Chr9:137162573 [GRCh38]
Chr9:140057025 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.888C>A (p.Leu296=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002089403] |
Chr9:137156957 [GRCh38]
Chr9:140051409 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_140051101)_(140053176_?)del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV002090643] |
Chr9:140051101..140053176 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1435G>C (p.Val479Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002209487] |
Chr9:137161384 [GRCh38]
Chr9:140055836 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.570+16G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002089589] |
Chr9:137145918 [GRCh38]
Chr9:140040370 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2706C>G (p.Thr902=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002191428] |
Chr9:137167416 [GRCh38]
Chr9:140061868 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1992C>T (p.Ile664=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002191158] |
Chr9:137162718 [GRCh38]
Chr9:140057170 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.155G>C (p.Arg52Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002112525] |
Chr9:137139641 [GRCh38]
Chr9:140034093 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1173G>T (p.Gly391=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002185248] |
Chr9:137158680 [GRCh38]
Chr9:140053132 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2700+11G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002111337] |
Chr9:137165307 [GRCh38]
Chr9:140059759 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1569C>A (p.Arg523=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002133119]|not provided [RCV003134390] |
Chr9:137162025 [GRCh38]
Chr9:140056477 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.861G>T (p.Val287=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002134584] |
Chr9:137156930 [GRCh38]
Chr9:140051382 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.384C>T (p.Tyr128=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002169404] |
Chr9:137142138 [GRCh38]
Chr9:140036590 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1632+16del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV002170619] |
Chr9:137162102 [GRCh38]
Chr9:140056554 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2589+12C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002195087] |
Chr9:137163916 [GRCh38]
Chr9:140058368 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2254C>T (p.Leu752=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002093595] |
Chr9:137163251 [GRCh38]
Chr9:140057703 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2171+13C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002166095] |
Chr9:137163016 [GRCh38]
Chr9:140057468 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.671+12C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002173346] |
Chr9:137149121 [GRCh38]
Chr9:140043573 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1198-5C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002195408] |
Chr9:137161051 [GRCh38]
Chr9:140055503 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1468-19C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002172942] |
Chr9:137161905 [GRCh38]
Chr9:140056357 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1864+10C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002094036] |
Chr9:137162526 [GRCh38]
Chr9:140056978 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1113+17A>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002187705]|not provided [RCV004707744] |
Chr9:137158540 [GRCh38]
Chr9:140052992 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1633-14G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002133292] |
Chr9:137162158 [GRCh38]
Chr9:140056610 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.873C>T (p.Ala291=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002105528] |
Chr9:137156942 [GRCh38]
Chr9:140051394 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1632+16G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002115442] |
Chr9:137162104 [GRCh38]
Chr9:140056556 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2244G>T (p.Thr748=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002150912] |
Chr9:137163241 [GRCh38]
Chr9:140057693 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.969-3T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002132399] |
Chr9:137158376 [GRCh38]
Chr9:140052828 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2340C>T (p.His780=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002197158] |
Chr9:137163565 [GRCh38]
Chr9:140058017 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1632+17T>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002134890] |
Chr9:137162105 [GRCh38]
Chr9:140056557 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.483C>T (p.Asn161=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002196029] |
Chr9:137145815 [GRCh38]
Chr9:140040267 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1632+8G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002150515] |
Chr9:137162096 [GRCh38]
Chr9:140056548 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2171+8G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002092915] |
Chr9:137163011 [GRCh38]
Chr9:140057463 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1339+17GGGCGCG[3] |
microsatellite |
Intellectual disability, autosomal dominant 8 [RCV002211570] |
Chr9:137161213..137161214 [GRCh38]
Chr9:140055665..140055666 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1632+13C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002093170] |
Chr9:137162101 [GRCh38]
Chr9:140056553 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2333+7G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002114860] |
Chr9:137163337 [GRCh38]
Chr9:140057789 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1104T>C (p.Asn368=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002094811] |
Chr9:137158514 [GRCh38]
Chr9:140052966 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1485G>A (p.Lys495=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002075654] |
Chr9:137161941 [GRCh38]
Chr9:140056393 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.139A>T (p.Asn47Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002116099] |
Chr9:137139625 [GRCh38]
Chr9:140034077 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2333+12T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002152610] |
Chr9:137163342 [GRCh38]
Chr9:140057794 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1221C>T (p.Pro407=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002097139] |
Chr9:137161079 [GRCh38]
Chr9:140055531 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1350G>T (p.Thr450=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002168182] |
Chr9:137161299 [GRCh38]
Chr9:140055751 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2247T>C (p.Thr749=) |
single nucleotide variant |
not provided [RCV002214504] |
Chr9:137163244 [GRCh38]
Chr9:140057696 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2478C>T (p.Ala826=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002103748] |
Chr9:137163793 [GRCh38]
Chr9:140058245 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.343C>G (p.Arg115Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002177152] |
Chr9:137142097 [GRCh38]
Chr9:140036549 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.672-9G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002159766] |
Chr9:137156660 [GRCh38]
Chr9:140051112 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2334-2A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002154300] |
Chr9:137163557 [GRCh38]
Chr9:140058009 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2172-18C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002117969] |
Chr9:137163151 [GRCh38]
Chr9:140057603 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.1684C>T (p.Leu562=) |
single nucleotide variant |
Inborn genetic diseases [RCV002400366]|Intellectual disability, autosomal dominant 8 [RCV002140805] |
Chr9:137162223 [GRCh38]
Chr9:140056675 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.558G>A (p.Glu186=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002099785] |
Chr9:137145890 [GRCh38]
Chr9:140040342 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1734C>T (p.Tyr578=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002203478] |
Chr9:137162273 [GRCh38]
Chr9:140056725 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2373G>C (p.Thr791=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002198162] |
Chr9:137163598 [GRCh38]
Chr9:140058050 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1852G>A (p.Gly618Ser) |
single nucleotide variant |
not provided [RCV002244478] |
Chr9:137162504 [GRCh38]
Chr9:140056956 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.671+17C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002164227] |
Chr9:137149126 [GRCh38]
Chr9:140043578 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1339+12G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002162665] |
Chr9:137161209 [GRCh38]
Chr9:140055661 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1566G>A (p.Glu522=) |
single nucleotide variant |
GRIN1-related disorder [RCV004531527]|Inborn genetic diseases [RCV002400378]|Intellectual disability, autosomal dominant 8 [RCV002164403]|not provided [RCV003438977] |
Chr9:137162022 [GRCh38]
Chr9:140056474 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1751+14G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002159037] |
Chr9:137162304 [GRCh38]
Chr9:140056756 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2014-10G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002162706] |
Chr9:137162836 [GRCh38]
Chr9:140057288 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1638T>A (p.Ile546=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002099799]|not specified [RCV004690234] |
Chr9:137162177 [GRCh38]
Chr9:140056629 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1113+20G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002182285] |
Chr9:137158543 [GRCh38]
Chr9:140052995 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2568C>T (p.Asn856=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002163012] |
Chr9:137163883 [GRCh38]
Chr9:140058335 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1012G>C (p.Val338Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002161468] |
Chr9:137158422 [GRCh38]
Chr9:140052874 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2409C>T (p.Asn803=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002203707] |
Chr9:137163634 [GRCh38]
Chr9:140058086 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.774C>T (p.Ala258=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002084311] |
Chr9:137156771 [GRCh38]
Chr9:140051223 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2590-13A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002160114] |
Chr9:137165173 [GRCh38]
Chr9:140059625 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2014-11C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002118966] |
Chr9:137162835 [GRCh38]
Chr9:140057287 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1340-3del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV002140219] |
Chr9:137161284 [GRCh38]
Chr9:140055736 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2087A>T (p.Gln696Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002082890] |
Chr9:137162919 [GRCh38]
Chr9:140057371 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1383C>T (p.Asp461=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002220007] |
Chr9:137161332 [GRCh38]
Chr9:140055784 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1264GAG[1] (p.Glu423del) |
microsatellite |
Intellectual disability, autosomal dominant 8 [RCV002140416] |
Chr9:137161120..137161122 [GRCh38]
Chr9:140055572..140055574 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2172-13C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002220640] |
Chr9:137163156 [GRCh38]
Chr9:140057608 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1423G>T (p.Glu475Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002183054] |
Chr9:137161372 [GRCh38]
Chr9:140055824 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1785G>A (p.Glu595=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002197899] |
Chr9:137162437 [GRCh38]
Chr9:140056889 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2443+19A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002201731] |
Chr9:137163687 [GRCh38]
Chr9:140058139 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.259-18T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002143285] |
Chr9:137141995 [GRCh38]
Chr9:140036447 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2172-15C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002218697] |
Chr9:137163154 [GRCh38]
Chr9:140057606 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.156G>T (p.Arg52=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002218723] |
Chr9:137139642 [GRCh38]
Chr9:140034094 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1242G>C (p.Thr414=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002183720] |
Chr9:137161100 [GRCh38]
Chr9:140055552 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1339+29_1340-45del |
microsatellite |
Intellectual disability, autosomal dominant 8 [RCV002178789] |
Chr9:137161204..137161222 [GRCh38]
Chr9:140055656..140055674 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.672-14C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002157673] |
Chr9:137156655 [GRCh38]
Chr9:140051107 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.969-4C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002121328] |
Chr9:137158375 [GRCh38]
Chr9:140052827 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_140040158)_(141016451_?)del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV003109674]|Kleefstra syndrome 1 [RCV003116549] |
Chr9:140040158..141016451 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NC_000009.11:g.(?_140036445)_(140138008_?)dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV003109676] |
Chr9:140036445..140138008 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1004C>G (p.Thr335Ser) |
single nucleotide variant |
not provided [RCV003110095] |
Chr9:137158414 [GRCh38]
Chr9:140052866 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_135139626)_(140034216_?)dup |
duplication |
Developmental and epileptic encephalopathy, 14 [RCV003111109]|Leigh syndrome [RCV003122287]|Rafiq syndrome [RCV003122286]|Tuberous sclerosis 1 [RCV003111108] |
Chr9:135139626..140034216 [GRCh37]
Chr9:9q34.13-34.3 |
uncertain significance |
| NC_000009.11:g.(?_138392557)_(141016451_?)del |
deletion |
Adams-Oliver syndrome 5 [RCV003119767]|Developmental and epileptic encephalopathy, 14 [RCV003109684]|Joubert syndrome [RCV003119768] |
Chr9:138392557..141016451 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.1342C>G (p.Arg448Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003110337] |
Chr9:137161291 [GRCh38]
Chr9:140055743 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.44G>C (p.Cys15Ser) |
single nucleotide variant |
not provided [RCV004784705] |
Chr9:137139530 [GRCh38]
Chr9:140033982 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2081G>A (p.Arg694Gln) |
single nucleotide variant |
not provided [RCV004784440] |
Chr9:137162913 [GRCh38]
Chr9:140057365 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_131087402)_(141016451_?)dup |
duplication |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] |
Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3 |
uncertain significance |
| NC_000009.11:g.(?_136218768)_(141016451_?)dup |
duplication |
Kleefstra syndrome 1 [RCV003122719] |
Chr9:136218768..141016451 [GRCh37]
Chr9:9q34.2-34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1975C>G (p.Arg659Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV004795886]|not provided [RCV005426369] |
Chr9:137162701 [GRCh38]
Chr9:140057153 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NC_000009.11:g.(?_139089171)_(141016451_?)del |
deletion |
Rafiq syndrome [RCV003122293]|not provided [RCV003105304] |
Chr9:139089171..141016451 [GRCh37]
Chr9:9q34.3 |
pathogenic|no classifications from unflagged records |
| NM_007327.4(GRIN1):c.2815T>G (p.Ter939Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003148402] |
Chr9:137167525 [GRCh38]
Chr9:140061977 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1163A>G (p.Lys388Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV004790076] |
Chr9:137158670 [GRCh38]
Chr9:140053122 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1205C>A (p.Thr402Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003148516] |
Chr9:137161063 [GRCh38]
Chr9:140055515 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2287C>A (p.Arg763Ser) |
single nucleotide variant |
See cases [RCV002252870] |
Chr9:137163284 [GRCh38]
Chr9:140057736 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2705C>G (p.Thr902Ser) |
single nucleotide variant |
not provided [RCV002278859] |
Chr9:137167415 [GRCh38]
Chr9:140061867 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1856T>A (p.Ile619Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002267205] |
Chr9:137162508 [GRCh38]
Chr9:140056960 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.794G>A (p.Gly265Asp) |
single nucleotide variant |
not provided [RCV002275773] |
Chr9:137156863 [GRCh38]
Chr9:140051315 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1940A>C (p.Tyr647Ser) |
single nucleotide variant |
not provided [RCV002293377] |
Chr9:137162666 [GRCh38]
Chr9:140057118 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_007327.4(GRIN1):c.2380C>T (p.Arg794Trp) |
single nucleotide variant |
Neurodevelopmental delay [RCV002274342] |
Chr9:137163605 [GRCh38]
Chr9:140058057 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.398T>G (p.Ile133Ser) |
single nucleotide variant |
Intellectual disability [RCV002276341] |
Chr9:137145730 [GRCh38]
Chr9:140040182 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1921A>T (p.Met641Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy 101 [RCV002287532]|Intellectual disability, autosomal dominant 8 [RCV002274446] |
Chr9:137162647 [GRCh38]
Chr9:140057099 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.2560G>A (p.Ala854Thr) |
single nucleotide variant |
See cases [RCV002287783] |
Chr9:137163875 [GRCh38]
Chr9:140058327 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2377G>T (p.Val793Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002285197] |
Chr9:137163602 [GRCh38]
Chr9:140058054 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.925G>A (p.Val309Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002291109] |
Chr9:137156994 [GRCh38]
Chr9:140051446 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2228A>G (p.Lys743Arg) |
single nucleotide variant |
See cases [RCV002287697] |
Chr9:137163225 [GRCh38]
Chr9:140057677 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.408C>A (p.Ser136Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002289287] |
Chr9:137145740 [GRCh38]
Chr9:140040192 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2171+1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002291102] |
Chr9:137163004 [GRCh38]
Chr9:140057456 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1570G>C (p.Ala524Pro) |
single nucleotide variant |
not provided [RCV002283065] |
Chr9:137162026 [GRCh38]
Chr9:140056478 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2575C>T (p.Arg859Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002297698] |
Chr9:137163890 [GRCh38]
Chr9:140058342 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1447A>C (p.Lys483Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002463982] |
Chr9:137161396 [GRCh38]
Chr9:140055848 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1848C>G (p.Asn616Lys) |
single nucleotide variant |
not provided [RCV002505973] |
Chr9:137162500 [GRCh38]
Chr9:140056952 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2422C>G (p.Leu808Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002303794] |
Chr9:137163647 [GRCh38]
Chr9:140058099 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.393+12T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002858051] |
Chr9:137142159 [GRCh38]
Chr9:140036611 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.874G>C (p.Val292Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002304849] |
Chr9:137156943 [GRCh38]
Chr9:140051395 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1399G>A (p.Ala467Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002294919] |
Chr9:137161348 [GRCh38]
Chr9:140055800 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2333A>C (p.Lys778Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002295827] |
Chr9:137163330 [GRCh38]
Chr9:140057782 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1946C>T (p.Ala649Val) |
single nucleotide variant |
not provided [RCV002300937] |
Chr9:137162672 [GRCh38]
Chr9:140057124 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2334G>T (p.Lys778Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002298176] |
Chr9:137163559 [GRCh38]
Chr9:140058011 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.780C>A (p.Arg260=) |
single nucleotide variant |
Inborn genetic diseases [RCV002409934]|Intellectual disability, autosomal dominant 8 [RCV005097157] |
Chr9:137156777 [GRCh38]
Chr9:140051229 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1665G>T (p.Met555Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002302855] |
Chr9:137162204 [GRCh38]
Chr9:140056656 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.14G>A (p.Arg5His) |
single nucleotide variant |
Inborn genetic diseases [RCV002389898]|Intellectual disability, autosomal dominant 8 [RCV003643016] |
Chr9:137139500 [GRCh38]
Chr9:140033952 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.733T>A (p.Tyr245Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002298343] |
Chr9:137156730 [GRCh38]
Chr9:140051182 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2167G>C (p.Asp723His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002303362] |
Chr9:137162999 [GRCh38]
Chr9:140057451 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1483A>C (p.Lys495Gln) |
single nucleotide variant |
not provided [RCV002306198] |
Chr9:137161939 [GRCh38]
Chr9:140056391 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.87T>C (p.Ile29=) |
single nucleotide variant |
Inborn genetic diseases [RCV002373716] |
Chr9:137139573 [GRCh38]
Chr9:140034025 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2520C>T (p.His840=) |
single nucleotide variant |
Inborn genetic diseases [RCV002433056] |
Chr9:137163835 [GRCh38]
Chr9:140058287 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1252G>A (p.Gly418Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002302102] |
Chr9:137161110 [GRCh38]
Chr9:140055562 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1967T>G (p.Val656Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002303159] |
Chr9:137162693 [GRCh38]
Chr9:140057145 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.665C>T (p.Ser222Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002991810] |
Chr9:137149103 [GRCh38]
Chr9:140043555 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1075C>T (p.Arg359Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002751084] |
Chr9:137158485 [GRCh38]
Chr9:140052937 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.1931T>C (p.Val644Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002837560] |
Chr9:137162657 [GRCh38]
Chr9:140057109 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.1633-3C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002838503] |
Chr9:137162169 [GRCh38]
Chr9:140056621 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1095C>T (p.Gly365=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002863490] |
Chr9:137158505 [GRCh38]
Chr9:140052957 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1864+14C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002681540] |
Chr9:137162530 [GRCh38]
Chr9:140056982 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1197+10C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002615609] |
Chr9:137158714 [GRCh38]
Chr9:140053166 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.343C>T (p.Arg115Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003073837] |
Chr9:137142097 [GRCh38]
Chr9:140036549 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.632C>T (p.Ala211Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003032783] |
Chr9:137149070 [GRCh38]
Chr9:140043522 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.422T>C (p.Val141Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003017618] |
Chr9:137145754 [GRCh38]
Chr9:140040206 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1535T>C (p.Met512Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002996359] |
Chr9:137161991 [GRCh38]
Chr9:140056443 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1687T>G (p.Trp563Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003223439]|not provided [RCV002511504] |
Chr9:137162226 [GRCh38]
Chr9:140056678 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.1865-4A>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002816324] |
Chr9:137162587 [GRCh38]
Chr9:140057039 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1069C>T (p.Gln357Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002617715] |
Chr9:137158479 [GRCh38]
Chr9:140052931 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.504C>T (p.Ser168=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002993812] |
Chr9:137145836 [GRCh38]
Chr9:140040288 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1239C>A (p.Pro413=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002904703] |
Chr9:137161097 [GRCh38]
Chr9:140055549 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.616G>T (p.Ala206Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002817937] |
Chr9:137149054 [GRCh38]
Chr9:140043506 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.624G>A (p.Leu208=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002616414] |
Chr9:137149062 [GRCh38]
Chr9:140043514 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2161G>A (p.Val721Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002972161] |
Chr9:137162993 [GRCh38]
Chr9:140057445 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.968+17C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003074477] |
Chr9:137157054 [GRCh38]
Chr9:140051506 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2699C>T (p.Thr900Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002839367] |
Chr9:137165295 [GRCh38]
Chr9:140059747 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1220C>T (p.Pro407Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003016908] |
Chr9:137161078 [GRCh38]
Chr9:140055530 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1572G>A (p.Ala524=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003015160] |
Chr9:137162028 [GRCh38]
Chr9:140056480 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2382G>A (p.Arg794=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002996999] |
Chr9:137163607 [GRCh38]
Chr9:140058059 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.924C>T (p.Cys308=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003033956] |
Chr9:137156993 [GRCh38]
Chr9:140051445 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2064C>T (p.Ser688=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002971713] |
Chr9:137162896 [GRCh38]
Chr9:140057348 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.393+12T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003097542] |
Chr9:137142159 [GRCh38]
Chr9:140036611 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.679G>A (p.Asp227Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002569422]|not provided [RCV002509950] |
Chr9:137156676 [GRCh38]
Chr9:140051128 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2148G>A (p.Glu716=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002839301] |
Chr9:137162980 [GRCh38]
Chr9:140057432 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1969C>A (p.Leu657Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002824381] |
Chr9:137162695 [GRCh38]
Chr9:140057147 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1467+14C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002871545] |
Chr9:137161430 [GRCh38]
Chr9:140055882 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2501A>C (p.Glu834Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003020011] |
Chr9:137163816 [GRCh38]
Chr9:140058268 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1812C>T (p.Ser604=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002871501] |
Chr9:137162464 [GRCh38]
Chr9:140056916 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2154C>T (p.Ile718=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003018075] |
Chr9:137162986 [GRCh38]
Chr9:140057438 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.315C>T (p.Thr105=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002923789] |
Chr9:137142069 [GRCh38]
Chr9:140036521 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1798_1805del (p.Ala600fs) |
deletion |
Intellectual disability, autosomal dominant 8 [RCV003018840] |
Chr9:137162447..137162454 [GRCh38]
Chr9:140056899..140056906 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.2590-18T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002781134] |
Chr9:137165168 [GRCh38]
Chr9:140059620 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2271C>T (p.Gly757=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002780432] |
Chr9:137163268 [GRCh38]
Chr9:140057720 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.592G>A (p.Asp198Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003019276] |
Chr9:137149030 [GRCh38]
Chr9:140043482 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2646T>A (p.Ala882=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002846537] |
Chr9:137165242 [GRCh38]
Chr9:140059694 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1045G>A (p.Ala349Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002948975] |
Chr9:137158455 [GRCh38]
Chr9:140052907 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2112G>A (p.Arg704=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002998924] |
Chr9:137162944 [GRCh38]
Chr9:140057396 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2446G>A (p.Val816Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002868939] |
Chr9:137163761 [GRCh38]
Chr9:140058213 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.570+15C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002998733] |
Chr9:137145917 [GRCh38]
Chr9:140040369 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.671G>A (p.Ser224Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003054831] |
Chr9:137149109 [GRCh38]
Chr9:140043561 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.468T>C (p.Arg156=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003018933] |
Chr9:137145800 [GRCh38]
Chr9:140040252 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.154C>A (p.Arg52=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003039133] |
Chr9:137139640 [GRCh38]
Chr9:140034092 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1365C>G (p.Cys455Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002923513] |
Chr9:137161314 [GRCh38]
Chr9:140055766 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.118C>T (p.Gln40Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003054693] |
Chr9:137139604 [GRCh38]
Chr9:140034056 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.1467+16G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002885455] |
Chr9:137161432 [GRCh38]
Chr9:140055884 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.962T>G (p.Phe321Cys) |
single nucleotide variant |
not provided [RCV002510139] |
Chr9:137157031 [GRCh38]
Chr9:140051483 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1049A>G (p.Asn350Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003079109] |
Chr9:137158459 [GRCh38]
Chr9:140052911 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2030_2034del (p.Asp677fs) |
deletion |
Intellectual disability, autosomal dominant 8 [RCV002824624] |
Chr9:137162861..137162865 [GRCh38]
Chr9:140057313..140057317 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002866953] |
Chr9:137139488 [GRCh38]
Chr9:140033940 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1339+14G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002912920] |
Chr9:137161211 [GRCh38]
Chr9:140055663 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2013+17C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003019118] |
Chr9:137162756 [GRCh38]
Chr9:140057208 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2499C>A (p.Ile833=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002825124] |
Chr9:137163814 [GRCh38]
Chr9:140058266 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1755C>T (p.Pro585=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002820608] |
Chr9:137162407 [GRCh38]
Chr9:140056859 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2780G>A (p.Gly927Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003054747] |
Chr9:137167490 [GRCh38]
Chr9:140061942 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2144C>A (p.Ala715Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003001878] |
Chr9:137162976 [GRCh38]
Chr9:140057428 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.447C>T (p.Ser149=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002979688] |
Chr9:137145779 [GRCh38]
Chr9:140040231 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1857C>G (p.Ile619Met) |
single nucleotide variant |
not provided [RCV002510125] |
Chr9:137162509 [GRCh38]
Chr9:140056961 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.393+13G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002667498] |
Chr9:137142160 [GRCh38]
Chr9:140036612 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.545C>T (p.Thr182Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002919151] |
Chr9:137145877 [GRCh38]
Chr9:140040329 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.258+8C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002825687] |
Chr9:137139752 [GRCh38]
Chr9:140034204 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1468-15T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003024626] |
Chr9:137161909 [GRCh38]
Chr9:140056361 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1751+17G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002805554] |
Chr9:137162307 [GRCh38]
Chr9:140056759 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.968+12_968+32dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV003024123] |
Chr9:137157038..137157039 [GRCh38]
Chr9:140051490..140051491 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.671+7C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003022496] |
Chr9:137149116 [GRCh38]
Chr9:140043568 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.660C>A (p.Ile220=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003040481] |
Chr9:137149098 [GRCh38]
Chr9:140043550 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.394-14C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003022968] |
Chr9:137145712 [GRCh38]
Chr9:140040164 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.415C>T (p.Arg139Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003024332]|not provided [RCV003329454] |
Chr9:137145747 [GRCh38]
Chr9:140040199 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1596C>T (p.Pro532=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002828059] |
Chr9:137162052 [GRCh38]
Chr9:140056504 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.672-14C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002954043] |
Chr9:137156655 [GRCh38]
Chr9:140051107 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.570+19G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002740622] |
Chr9:137145921 [GRCh38]
Chr9:140040373 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2533C>A (p.Arg845=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002765509]|not provided [RCV003435823] |
Chr9:137163848 [GRCh38]
Chr9:140058300 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.968+11_968+55del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV002985449] |
Chr9:137157035..137157079 [GRCh38]
Chr9:140051487..140051531 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1994C>T (p.Thr665Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003041029] |
Chr9:137162720 [GRCh38]
Chr9:140057172 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1995G>A (p.Thr665=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002624710] |
Chr9:137162721 [GRCh38]
Chr9:140057173 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2444-15G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002596271] |
Chr9:137163744 [GRCh38]
Chr9:140058196 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2013+2T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002872518] |
Chr9:137162741 [GRCh38]
Chr9:140057193 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.742C>T (p.Leu248=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002872834] |
Chr9:137156739 [GRCh38]
Chr9:140051191 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.1467+12G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002914738] |
Chr9:137161428 [GRCh38]
Chr9:140055880 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.793+14C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002982659] |
Chr9:137156804 [GRCh38]
Chr9:140051256 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.969-6C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002890415] |
Chr9:137158373 [GRCh38]
Chr9:140052825 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2443+4C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002667189] |
Chr9:137163672 [GRCh38]
Chr9:140058124 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1340-11C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002872749] |
Chr9:137161278 [GRCh38]
Chr9:140055730 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1198-4C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002801884] |
Chr9:137161052 [GRCh38]
Chr9:140055504 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.362T>C (p.Leu121Pro) |
single nucleotide variant |
not provided [RCV002508465] |
Chr9:137142116 [GRCh38]
Chr9:140036568 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1197+22del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV002851951] |
Chr9:137158724 [GRCh38]
Chr9:140053176 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1185C>T (p.Ser395=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002852421] |
Chr9:137158692 [GRCh38]
Chr9:140053144 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.969-16A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002928539] |
Chr9:137158363 [GRCh38]
Chr9:140052815 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2453T>G (p.Met818Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002982849] |
Chr9:137163768 [GRCh38]
Chr9:140058220 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.23C>T (p.Thr8Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003041676] |
Chr9:137139509 [GRCh38]
Chr9:140033961 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.969-5_969-4delinsTT |
indel |
Intellectual disability, autosomal dominant 8 [RCV002894001] |
Chr9:137158374..137158375 [GRCh38]
Chr9:140052826..140052827 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1339+20C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002667403] |
Chr9:137161217 [GRCh38]
Chr9:140055669 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1114-15T>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003025207] |
Chr9:137158606 [GRCh38]
Chr9:140053058 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1 |
copy number loss |
See cases [RCV002640756] |
Chr9:134962336..137240181 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.2589+12C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002899778] |
Chr9:137163916 [GRCh38]
Chr9:140058368 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.671+11del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV003031550] |
Chr9:137149118 [GRCh38]
Chr9:140043570 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1778G>T (p.Ser593Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003250704]|Intellectual disability, autosomal dominant 8 [RCV003065848] |
Chr9:137162430 [GRCh38]
Chr9:140056882 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.2007C>T (p.Asp669=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002812157] |
Chr9:137162733 [GRCh38]
Chr9:140057185 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1752-16C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002581116] |
Chr9:137162388 [GRCh38]
Chr9:140056840 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1751+3G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003027619] |
Chr9:137162293 [GRCh38]
Chr9:140056745 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.649C>A (p.Arg217=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002941970] |
Chr9:137149087 [GRCh38]
Chr9:140043539 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1011C>T (p.Arg337=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002580242] |
Chr9:137158421 [GRCh38]
Chr9:140052873 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1467+20T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002676490] |
Chr9:137161436 [GRCh38]
Chr9:140055888 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1364G>C (p.Cys455Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002834063] |
Chr9:137161313 [GRCh38]
Chr9:140055765 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1078A>T (p.Lys360Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002676153] |
Chr9:137158488 [GRCh38]
Chr9:140052940 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.1777A>T (p.Ser593Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002720475] |
Chr9:137162429 [GRCh38]
Chr9:140056881 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.290C>A (p.Thr97Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003028221] |
Chr9:137142044 [GRCh38]
Chr9:140036496 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.374T>C (p.Met125Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002645975] |
Chr9:137142128 [GRCh38]
Chr9:140036580 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1260C>T (p.Cys420=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003060345] |
Chr9:137161118 [GRCh38]
Chr9:140055570 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.870G>T (p.Gln290His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002833362] |
Chr9:137156939 [GRCh38]
Chr9:140051391 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1632+20_1632+22del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV002877573] |
Chr9:137162106..137162108 [GRCh38]
Chr9:140056558..140056560 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.559C>T (p.Arg187Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002578736] |
Chr9:137145891 [GRCh38]
Chr9:140040343 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.129C>T (p.Arg43=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002627400] |
Chr9:137139615 [GRCh38]
Chr9:140034067 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1198-9C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002671317] |
Chr9:137161047 [GRCh38]
Chr9:140055499 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1632+20C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002715132] |
Chr9:137162108 [GRCh38]
Chr9:140056560 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2013+14G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002599058] |
Chr9:137162753 [GRCh38]
Chr9:140057205 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2681G>A (p.Arg894His) |
single nucleotide variant |
Inborn genetic diseases [RCV004983288]|Intellectual disability, autosomal dominant 8 [RCV003064445]|not provided [RCV003130815] |
Chr9:137165277 [GRCh38]
Chr9:140059729 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1380C>T (p.Ile460=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002671222]|not provided [RCV003435816] |
Chr9:137161329 [GRCh38]
Chr9:140055781 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.1121C>T (p.Pro374Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003029001] |
Chr9:137158628 [GRCh38]
Chr9:140053080 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.268del (p.Ile90fs) |
deletion |
Intellectual disability, autosomal dominant 8 [RCV003061059]|not provided [RCV004725506] |
Chr9:137142022 [GRCh38]
Chr9:140036474 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_007327.4(GRIN1):c.394-11G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002833772] |
Chr9:137145715 [GRCh38]
Chr9:140040167 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1333G>A (p.Gly445Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002988841] |
Chr9:137161191 [GRCh38]
Chr9:140055643 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.671+6G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002601394] |
Chr9:137149115 [GRCh38]
Chr9:140043567 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1540G>C (p.Val514Leu) |
single nucleotide variant |
Autism spectrum disorder [RCV003126263]|Intellectual disability, autosomal dominant 8 [RCV003031049] |
Chr9:137161996 [GRCh38]
Chr9:140056448 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.570+18G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003063684]|not provided [RCV003321973] |
Chr9:137145920 [GRCh38]
Chr9:140040372 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.92C>A (p.Ala31Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002962942] |
Chr9:137139578 [GRCh38]
Chr9:140034030 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.571-18C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002899533] |
Chr9:137148991 [GRCh38]
Chr9:140043443 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1467+11C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002714803] |
Chr9:137161427 [GRCh38]
Chr9:140055879 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1243C>G (p.Leu415Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002943851] |
Chr9:137161101 [GRCh38]
Chr9:140055553 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.372C>A (p.Arg124=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003051272] |
Chr9:137142126 [GRCh38]
Chr9:140036578 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.562G>A (p.Glu188Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002943175] |
Chr9:137145894 [GRCh38]
Chr9:140040346 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2487C>T (p.Phe829=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002584131] |
Chr9:137163802 [GRCh38]
Chr9:140058254 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.516G>A (p.Glu172=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002815022] |
Chr9:137145848 [GRCh38]
Chr9:140040300 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1722C>T (p.Ala574=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003068143] |
Chr9:137162261 [GRCh38]
Chr9:140056713 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1339+12G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003093460] |
Chr9:137161209 [GRCh38]
Chr9:140055661 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.793+20G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002582203] |
Chr9:137156810 [GRCh38]
Chr9:140051262 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1679G>A (p.Ser560Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003050423] |
Chr9:137162218 [GRCh38]
Chr9:140056670 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2444-16G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003050472]|not provided [RCV003130814] |
Chr9:137163743 [GRCh38]
Chr9:140058195 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.231G>T (p.Ser77=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002815135] |
Chr9:137139717 [GRCh38]
Chr9:140034169 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.258+12C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002814577] |
Chr9:137139756 [GRCh38]
Chr9:140034208 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2586G>A (p.Leu862=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002605994] |
Chr9:137163901 [GRCh38]
Chr9:140058353 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.1633-5C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002607166] |
Chr9:137162167 [GRCh38]
Chr9:140056619 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2013+19G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002585139] |
Chr9:137162758 [GRCh38]
Chr9:140057210 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1935C>A (p.Ala645=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV002609366] |
Chr9:137162661 [GRCh38]
Chr9:140057113 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.514G>A (p.Glu172Lys) |
single nucleotide variant |
GRIN1-related disorder [RCV004540527]|Intellectual disability, autosomal dominant 8 [RCV003071814] |
Chr9:137145846 [GRCh38]
Chr9:140040298 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.672-16C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003068135] |
Chr9:137156653 [GRCh38]
Chr9:140051105 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.940A>G (p.Ile314Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV004788237] |
Chr9:137157009 [GRCh38]
Chr9:140051461 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1555A>G (p.Ile519Val) |
single nucleotide variant |
not provided [RCV003229192] |
Chr9:137162011 [GRCh38]
Chr9:140056463 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2051T>C (p.Val684Ala) |
single nucleotide variant |
not provided [RCV003223324] |
Chr9:137162883 [GRCh38]
Chr9:140057335 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.691G>C (p.Val231Leu) |
single nucleotide variant |
not provided [RCV003223776] |
Chr9:137156688 [GRCh38]
Chr9:140051140 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2451C>A (p.Phe817Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003223480] |
Chr9:137163766 [GRCh38]
Chr9:140058218 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.2446G>T (p.Val816Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003229538] |
Chr9:137163761 [GRCh38]
Chr9:140058213 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.2039_2042del (p.Ile680fs) |
deletion |
Intellectual disability, autosomal dominant 8 [RCV003643040]|not provided [RCV003135461] |
Chr9:137162869..137162872 [GRCh38]
Chr9:140057321..140057324 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_007327.4(GRIN1):c.2215G>C (p.Glu739Gln) |
single nucleotide variant |
not provided [RCV003135462] |
Chr9:137163212 [GRCh38]
Chr9:140057664 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1237C>A (p.Pro413Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy 101 [RCV003225790] |
Chr9:137161095 [GRCh38]
Chr9:140055547 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.845G>A (p.Ser282Asn) |
single nucleotide variant |
not provided [RCV003319086] |
Chr9:137156914 [GRCh38]
Chr9:140051366 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2204T>G (p.Val735Gly) |
single nucleotide variant |
not provided [RCV003319904] |
Chr9:137163201 [GRCh38]
Chr9:140057653 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1113+3A>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003448745] |
Chr9:137158526 [GRCh38]
Chr9:140052978 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.955C>T (p.Pro319Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003777369]|not provided [RCV003327229] |
Chr9:137157024 [GRCh38]
Chr9:140051476 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1918G>C (p.Ala640Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003329100] |
Chr9:137162644 [GRCh38]
Chr9:140057096 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.2054A>G (p.Lys685Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003777394]|not provided [RCV004723272]|not specified [RCV003331841] |
Chr9:137162886 [GRCh38]
Chr9:140057338 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.784G>A (p.Ala262Thr) |
single nucleotide variant |
not provided [RCV003332714] |
Chr9:137156781 [GRCh38]
Chr9:140051233 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2028G>A (p.Ser676=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642557] |
Chr9:137162860 [GRCh38]
Chr9:140057312 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1265A>G (p.Glu422Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642373] |
Chr9:137161123 [GRCh38]
Chr9:140055575 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.114C>T (p.His38=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003874527] |
Chr9:137139600 [GRCh38]
Chr9:140034052 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.156G>A (p.Arg52=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642521] |
Chr9:137139642 [GRCh38]
Chr9:140034094 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.693A>G (p.Val231=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003875625] |
Chr9:137156690 [GRCh38]
Chr9:140051142 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2333+14C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642418] |
Chr9:137163344 [GRCh38]
Chr9:140057796 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1509C>G (p.Gly503=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642447] |
Chr9:137161965 [GRCh38]
Chr9:140056417 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3 |
copy number gain |
not provided [RCV003484786] |
Chr9:136988996..141020389 [GRCh37]
Chr9:9q34.2-34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.555G>A (p.Glu185=) |
single nucleotide variant |
not specified [RCV003405079] |
Chr9:137145887 [GRCh38]
Chr9:140040339 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1592A>G (p.Lys531Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003484216] |
Chr9:137162048 [GRCh38]
Chr9:140056500 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.2302T>G (p.Trp768Gly) |
single nucleotide variant |
not provided [RCV003441643] |
Chr9:137163299 [GRCh38]
Chr9:140057751 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2401C>A (p.Arg801Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003388722] |
Chr9:137163626 [GRCh38]
Chr9:140058078 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1594C>T (p.Pro532Ser) |
single nucleotide variant |
GRIN1-related disorder [RCV004527959]|Intellectual disability, autosomal dominant 8 [RCV003528468] |
Chr9:137162050 [GRCh38]
Chr9:140056502 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.521G>A (p.Arg174Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004978869]|Intellectual disability, autosomal dominant 8 [RCV003528475]|not provided [RCV003440814] |
Chr9:137145853 [GRCh38]
Chr9:140040305 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.750C>T (p.Gly250=) |
single nucleotide variant |
not provided [RCV003440815] |
Chr9:137156747 [GRCh38]
Chr9:140051199 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1007G>T (p.Gly336Val) |
single nucleotide variant |
not provided [RCV003440817] |
Chr9:137158417 [GRCh38]
Chr9:140052869 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2331C>T (p.Leu777=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643077]|not provided [RCV003440818] |
Chr9:137163328 [GRCh38]
Chr9:140057780 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.849C>T (p.Asp283=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005100067]|not provided [RCV003440816] |
Chr9:137156918 [GRCh38]
Chr9:140051370 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1916T>G (p.Phe639Cys) |
single nucleotide variant |
GRIN1-related disorder [RCV004534262] |
Chr9:137162642 [GRCh38]
Chr9:140057094 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1197+15G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003527672] |
Chr9:137158719 [GRCh38]
Chr9:140053171 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.865G>T (p.Ala289Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529241] |
Chr9:137156934 [GRCh38]
Chr9:140051386 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.123G>A (p.Met41Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643116] |
Chr9:137139609 [GRCh38]
Chr9:140034061 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.597A>G (p.Pro199=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643132] |
Chr9:137149035 [GRCh38]
Chr9:140043487 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1491G>A (p.Glu497=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643155] |
Chr9:137161947 [GRCh38]
Chr9:140056399 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2589+9G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003527923] |
Chr9:137163913 [GRCh38]
Chr9:140058365 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1081C>T (p.Leu361=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643219] |
Chr9:137158491 [GRCh38]
Chr9:140052943 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1458A>G (p.Thr486=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643474] |
Chr9:137161407 [GRCh38]
Chr9:140055859 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2269G>C (p.Gly757Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529582] |
Chr9:137163266 [GRCh38]
Chr9:140057718 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.525_526delinsAA (p.Ala176Thr) |
indel |
Intellectual disability, autosomal dominant 8 [RCV003529486] |
Chr9:137145857..137145858 [GRCh38]
Chr9:140040309..140040310 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2482A>T (p.Ile828Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529434] |
Chr9:137163797 [GRCh38]
Chr9:140058249 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2608G>A (p.Ala870Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643856] |
Chr9:137165204 [GRCh38]
Chr9:140059656 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2811_2812delinsTT (p.Glu937_Ser938delinsAspCys) |
indel |
Intellectual disability, autosomal dominant 8 [RCV003529672] |
Chr9:137167521..137167522 [GRCh38]
Chr9:140061973..140061974 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1041G>T (p.Lys347Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643976] |
Chr9:137158451 [GRCh38]
Chr9:140052903 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1501A>G (p.Met501Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003528558] |
Chr9:137161957 [GRCh38]
Chr9:140056409 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1340-1del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV003529725] |
Chr9:137161288 [GRCh38]
Chr9:140055740 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.176A>G (p.Gln59Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529751] |
Chr9:137139662 [GRCh38]
Chr9:140034114 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2463T>A (p.Ala821=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003528581] |
Chr9:137163778 [GRCh38]
Chr9:140058230 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1894C>T (p.Leu632=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642570] |
Chr9:137162620 [GRCh38]
Chr9:140057072 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.2484C>A (p.Ile828=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644231] |
Chr9:137163799 [GRCh38]
Chr9:140058251 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.438C>T (p.His146=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644286] |
Chr9:137145770 [GRCh38]
Chr9:140040222 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1633-8C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003528836] |
Chr9:137162164 [GRCh38]
Chr9:140056616 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.872C>T (p.Ala291Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529247] |
Chr9:137156941 [GRCh38]
Chr9:140051393 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.134C>T (p.Ala45Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643682] |
Chr9:137139620 [GRCh38]
Chr9:140034072 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1214A>T (p.Gln405Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644437] |
Chr9:137161072 [GRCh38]
Chr9:140055524 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.650G>A (p.Arg217Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644461] |
Chr9:137149088 [GRCh38]
Chr9:140043540 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2443+12_2443+14del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV003643711] |
Chr9:137163679..137163681 [GRCh38]
Chr9:140058131..140058133 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.259-13_259-11del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV003529291] |
Chr9:137141998..137142000 [GRCh38]
Chr9:140036450..140036452 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2589+20G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643741] |
Chr9:137163924 [GRCh38]
Chr9:140058376 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1864+19C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643766] |
Chr9:137162535 [GRCh38]
Chr9:140056987 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1197+13C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529308] |
Chr9:137158717 [GRCh38]
Chr9:140053169 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1467+11C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643781] |
Chr9:137161427 [GRCh38]
Chr9:140055879 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1101C>T (p.Tyr367=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643812] |
Chr9:137158511 [GRCh38]
Chr9:140052963 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_007327.4(GRIN1):c.969-1G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643820] |
Chr9:137158378 [GRCh38]
Chr9:140052830 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.2171+18A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643905] |
Chr9:137163021 [GRCh38]
Chr9:140057473 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.540G>A (p.Leu180=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003527782] |
Chr9:137145872 [GRCh38]
Chr9:140040324 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2199G>C (p.Ser733=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003829933] |
Chr9:137163196 [GRCh38]
Chr9:140057648 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1339+11G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529400] |
Chr9:137161208 [GRCh38]
Chr9:140055660 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2813G>C (p.Ser938Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003527929] |
Chr9:137167523 [GRCh38]
Chr9:140061975 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.600G>A (p.Gly200=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643938] |
Chr9:137149038 [GRCh38]
Chr9:140043490 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2700+12A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643950] |
Chr9:137165308 [GRCh38]
Chr9:140059760 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.672-15C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643960] |
Chr9:137156654 [GRCh38]
Chr9:140051106 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1865-8G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643961] |
Chr9:137162583 [GRCh38]
Chr9:140057035 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2333+11G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003527816] |
Chr9:137163341 [GRCh38]
Chr9:140057793 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.291C>A (p.Thr97=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643207] |
Chr9:137142045 [GRCh38]
Chr9:140036497 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1632+13C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529436] |
Chr9:137162101 [GRCh38]
Chr9:140056553 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.318T>G (p.Pro106=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529455] |
Chr9:137142072 [GRCh38]
Chr9:140036524 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1479C>T (p.Ser493=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643239] |
Chr9:137161935 [GRCh38]
Chr9:140056387 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1467+16G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643281] |
Chr9:137161432 [GRCh38]
Chr9:140055884 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2443+16T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003527899] |
Chr9:137163684 [GRCh38]
Chr9:140058136 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.156G>C (p.Arg52=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003528807] |
Chr9:137139642 [GRCh38]
Chr9:140034094 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2145G>A (p.Ala715=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529044] |
Chr9:137162977 [GRCh38]
Chr9:140057429 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1319A>C (p.Asn440Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643339] |
Chr9:137161177 [GRCh38]
Chr9:140055629 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1509C>T (p.Gly503=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644237] |
Chr9:137161965 [GRCh38]
Chr9:140056417 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2244G>A (p.Thr748=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642668] |
Chr9:137163241 [GRCh38]
Chr9:140057693 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1468-4G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644287] |
Chr9:137161920 [GRCh38]
Chr9:140056372 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1339+9_1339+10delinsTT |
indel |
Intellectual disability, autosomal dominant 8 [RCV003644306] |
Chr9:137161206..137161207 [GRCh38]
Chr9:140055658..140055659 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.394-9C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003528963] |
Chr9:137145717 [GRCh38]
Chr9:140040169 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.486C>T (p.His162=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644025] |
Chr9:137145818 [GRCh38]
Chr9:140040270 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2444-2_2448del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV003644028] |
Chr9:137163756..137163762 [GRCh38]
Chr9:140058208..140058214 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.852C>T (p.Ala284=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529544] |
Chr9:137156921 [GRCh38]
Chr9:140051373 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1904T>G (p.Val635Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003883384] |
Chr9:137162630 [GRCh38]
Chr9:140057082 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.2171+20C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644154] |
Chr9:137163023 [GRCh38]
Chr9:140057475 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1865-19G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003829778] |
Chr9:137162572 [GRCh38]
Chr9:140057024 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2701-14G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529332] |
Chr9:137167397 [GRCh38]
Chr9:140061849 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.41C>T (p.Ser14Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643387] |
Chr9:137139527 [GRCh38]
Chr9:140033979 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.388G>A (p.Asp130Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644203] |
Chr9:137142142 [GRCh38]
Chr9:140036594 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1134G>A (p.Lys378=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003878005] |
Chr9:137158641 [GRCh38]
Chr9:140053093 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1632+6C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643468] |
Chr9:137162094 [GRCh38]
Chr9:140056546 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.626T>C (p.Met209Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644269] |
Chr9:137149064 [GRCh38]
Chr9:140043516 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1752-6C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003528977] |
Chr9:137162398 [GRCh38]
Chr9:140056850 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2013+17C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642716] |
Chr9:137162756 [GRCh38]
Chr9:140057208 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.861G>A (p.Val287=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644305] |
Chr9:137156930 [GRCh38]
Chr9:140051382 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2373G>T (p.Thr791=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003528522] |
Chr9:137163598 [GRCh38]
Chr9:140058050 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.770A>T (p.Asn257Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003528526] |
Chr9:137156767 [GRCh38]
Chr9:140051219 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2255T>A (p.Leu752Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529797] |
Chr9:137163252 [GRCh38]
Chr9:140057704 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.794-12A>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644343] |
Chr9:137156851 [GRCh38]
Chr9:140051303 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.571-4G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643606] |
Chr9:137149005 [GRCh38]
Chr9:140043457 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2226G>A (p.Gln742=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644423] |
Chr9:137163223 [GRCh38]
Chr9:140057675 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1633-12G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003528592] |
Chr9:137162160 [GRCh38]
Chr9:140056612 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1267G>A (p.Glu423Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643134] |
Chr9:137161125 [GRCh38]
Chr9:140055577 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.201C>G (p.His67Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003528607] |
Chr9:137139687 [GRCh38]
Chr9:140034139 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.556G>A (p.Glu186Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529497] |
Chr9:137145888 [GRCh38]
Chr9:140040340 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.197C>T (p.Thr66Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643746] |
Chr9:137139683 [GRCh38]
Chr9:140034135 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.128G>T (p.Arg43Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643757] |
Chr9:137139614 [GRCh38]
Chr9:140034066 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1198-4C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529178] |
Chr9:137161052 [GRCh38]
Chr9:140055504 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.652G>C (p.Val218Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643983] |
Chr9:137149090 [GRCh38]
Chr9:140043542 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.997G>T (p.Gly333Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644018] |
Chr9:137158407 [GRCh38]
Chr9:140052859 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1468-7C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003529278] |
Chr9:137161917 [GRCh38]
Chr9:140056369 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1593G>A (p.Lys531=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643206] |
Chr9:137162049 [GRCh38]
Chr9:140056501 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2014-8C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643302] |
Chr9:137162838 [GRCh38]
Chr9:140057290 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.318T>C (p.Pro106=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643318] |
Chr9:137142072 [GRCh38]
Chr9:140036524 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2076C>T (p.Tyr692=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643656] |
Chr9:137162908 [GRCh38]
Chr9:140057360 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1425G>A (p.Glu475=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643389] |
Chr9:137161374 [GRCh38]
Chr9:140055826 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1350G>C (p.Thr450=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643609] |
Chr9:137161299 [GRCh38]
Chr9:140055751 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1197+11C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003882063] |
Chr9:137158715 [GRCh38]
Chr9:140053167 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1467+2T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643857] |
Chr9:137161418 [GRCh38]
Chr9:140055870 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.428C>T (p.Pro143Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643914] |
Chr9:137145760 [GRCh38]
Chr9:140040212 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1605C>T (p.Tyr535=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643916] |
Chr9:137162061 [GRCh38]
Chr9:140056513 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_007327.4(GRIN1):c.1707G>C (p.Ser569=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643923] |
Chr9:137162246 [GRCh38]
Chr9:140056698 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2805T>C (p.His935=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643602] |
Chr9:137167515 [GRCh38]
Chr9:140061967 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1864+20G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643683] |
Chr9:137162536 [GRCh38]
Chr9:140056988 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.793+20G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643922] |
Chr9:137156810 [GRCh38]
Chr9:140051262 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.365C>T (p.Thr122Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644113] |
Chr9:137142119 [GRCh38]
Chr9:140036571 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.619C>G (p.Leu207Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644127] |
Chr9:137149057 [GRCh38]
Chr9:140043509 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.465G>T (p.Met155Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643769] |
Chr9:137145797 [GRCh38]
Chr9:140040249 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1086G>A (p.Val362=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643991] |
Chr9:137158496 [GRCh38]
Chr9:140052948 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.461T>A (p.Met154Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644019] |
Chr9:137145793 [GRCh38]
Chr9:140040245 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1736del (p.Leu579fs) |
deletion |
Intellectual disability, autosomal dominant 8 [RCV003644035] |
Chr9:137162275 [GRCh38]
Chr9:140056727 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1113+2T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644099] |
Chr9:137158525 [GRCh38]
Chr9:140052977 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.60C>G (p.Ala20=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644274] |
Chr9:137139546 [GRCh38]
Chr9:140033998 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.991G>A (p.Ala331Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644282] |
Chr9:137158401 [GRCh38]
Chr9:140052853 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1150G>A (p.Gly384Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642746] |
Chr9:137158657 [GRCh38]
Chr9:140053109 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1198-14C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642781] |
Chr9:137161042 [GRCh38]
Chr9:140055494 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2473G>A (p.Val825Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644112] |
Chr9:137163788 [GRCh38]
Chr9:140058240 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2755C>T (p.Arg919Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644394] |
Chr9:137167465 [GRCh38]
Chr9:140061917 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1674C>G (p.Phe558Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644419] |
Chr9:137162213 [GRCh38]
Chr9:140056665 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1566G>C (p.Glu522Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642506] |
Chr9:137162022 [GRCh38]
Chr9:140056474 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2070T>C (p.Asp690=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644454] |
Chr9:137162902 [GRCh38]
Chr9:140057354 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2444-18C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644508] |
Chr9:137163741 [GRCh38]
Chr9:140058193 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1339+16_1339+27del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV003644333] |
Chr9:137161204..137161215 [GRCh38]
Chr9:140055656..140055667 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.671+5G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644383] |
Chr9:137149114 [GRCh38]
Chr9:140043566 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.292C>G (p.Pro98Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003644387] |
Chr9:137142046 [GRCh38]
Chr9:140036498 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1735C>T (p.Leu579=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643133] |
Chr9:137162274 [GRCh38]
Chr9:140056726 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2365G>A (p.Asp789Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642811] |
Chr9:137163590 [GRCh38]
Chr9:140058042 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.2085C>G (p.Arg695=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003643163] |
Chr9:137162917 [GRCh38]
Chr9:140057369 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q34.3(chr9:139942000-141074000)x3 |
copy number gain |
9q34.3 microduplication-related neurodevelopmental disorder [RCV003761658] |
Chr9:139942000..141074000 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3 |
copy number gain |
9q34.3 microduplication-related neurodevelopmental disorder [RCV003761660] |
Chr9:139685408..141050580 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3 |
copy number gain |
9q34.3 microduplication-related neurodevelopmental disorder [RCV003761661] |
Chr9:139972953..140954193 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| GRCh37/hg19 9q34.3(chr9:140014769-140930811)x3 |
copy number gain |
9q34.3 microduplication-related neurodevelopmental disorder [RCV003761662] |
Chr9:140014769..140930811 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.917G>A (p.Arg306Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003863831] |
Chr9:137156986 [GRCh38]
Chr9:140051438 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1878C>T (p.Ser626=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642390] |
Chr9:137162604 [GRCh38]
Chr9:140057056 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1321G>C (p.Asp441His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003867465] |
Chr9:137161179 [GRCh38]
Chr9:140055631 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.155G>A (p.Arg52Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003861498] |
Chr9:137139641 [GRCh38]
Chr9:140034093 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1786_1787delinsTT (p.Glu596Leu) |
indel |
Intellectual disability, autosomal dominant 8 [RCV003869621] |
Chr9:137162438..137162439 [GRCh38]
Chr9:140056890..140056891 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.707C>T (p.Ala236Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003846127] |
Chr9:137156704 [GRCh38]
Chr9:140051156 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1247G>A (p.Ser416Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003871310]|not provided [RCV004818434] |
Chr9:137161105 [GRCh38]
Chr9:140055557 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1751+17G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003843229] |
Chr9:137162307 [GRCh38]
Chr9:140056759 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1521C>T (p.Ser507=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003642391] |
Chr9:137161977 [GRCh38]
Chr9:140056429 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.80T>G (p.Val27Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003991672] |
Chr9:137139566 [GRCh38]
Chr9:140034018 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.637G>A (p.Glu213Lys) |
single nucleotide variant |
GRIN1-related disorder [RCV004531935] |
Chr9:137149075 [GRCh38]
Chr9:140043527 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2015T>C (p.Leu672Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV003885414] |
Chr9:137162847 [GRCh38]
Chr9:140057299 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.756C>A (p.Arg252=) |
single nucleotide variant |
not provided [RCV003887435] |
Chr9:137156753 [GRCh38]
Chr9:140051205 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.168G>C (p.Trp56Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004393870] |
Chr9:137139654 [GRCh38]
Chr9:140034106 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1016A>G (p.Glu339Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004393868]|not provided [RCV004767535] |
Chr9:137158426 [GRCh38]
Chr9:140052878 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2791C>A (p.Leu931Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004393871] |
Chr9:137167501 [GRCh38]
Chr9:140061953 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.520C>G (p.Arg174Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004393873] |
Chr9:137145852 [GRCh38]
Chr9:140040304 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.950C>T (p.Thr317Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV004546865] |
Chr9:137157019 [GRCh38]
Chr9:140051471 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1864+6G>T |
single nucleotide variant |
not provided [RCV004590695] |
Chr9:137162522 [GRCh38]
Chr9:140056974 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2138G>A (p.Ser713Asn) |
single nucleotide variant |
not provided [RCV004590638] |
Chr9:137162970 [GRCh38]
Chr9:140057422 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2797T>G (p.Ser933Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004393872] |
Chr9:137167507 [GRCh38]
Chr9:140061959 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_140052948)_(140058289_?)del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV004582018] |
Chr9:140052948..140058289 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_140036455)_(140040364_?)dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV004582017] |
Chr9:140036455..140040364 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_140033939)_(140053176_?)dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV004582016] |
Chr9:140033939..140053176 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_140033939)_(140043581_?)dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV004582015] |
Chr9:140033939..140043581 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_139981452)_(140036619_?)dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV004582014] |
Chr9:139981452..140036619 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_140061843)_(140061979_?)del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV004582013] |
Chr9:140061843..140061979 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_131678355)_(140095163_?)dup |
duplication |
not provided [RCV004582063] |
Chr9:131678355..140095163 [GRCh37]
Chr9:9q34.11-34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.13C>T (p.Arg5Cys) |
single nucleotide variant |
not specified [RCV004689463] |
Chr9:137139499 [GRCh38]
Chr9:140033951 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1126G>T (p.Asp376Tyr) |
single nucleotide variant |
not provided [RCV004575951] |
Chr9:137158633 [GRCh38]
Chr9:140053085 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1674C>T (p.Phe558=) |
single nucleotide variant |
not provided [RCV004599076] |
Chr9:137162213 [GRCh38]
Chr9:140056665 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1904T>C (p.Val635Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV004674037] |
Chr9:137162630 [GRCh38]
Chr9:140057082 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.536G>A (p.Arg179His) |
single nucleotide variant |
not provided [RCV004702033] |
Chr9:137145868 [GRCh38]
Chr9:140040320 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.*18C>T |
single nucleotide variant |
not specified [RCV004702821] |
Chr9:137167545 [GRCh38]
Chr9:140061997 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2072T>G (p.Ile691Ser) |
single nucleotide variant |
not provided [RCV004759839] |
Chr9:137162904 [GRCh38]
Chr9:140057356 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.3(chr9:135182209-138129711) |
copy number loss |
Kleefstra syndrome 1 [RCV004720473] |
Chr9:135182209..138129711 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188) |
copy number loss |
Kleefstra syndrome 1 [RCV004720477] |
Chr9:137590213..138052188 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181) |
copy number loss |
Kleefstra syndrome 1 [RCV004720480] |
Chr9:136926151..138059181 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529) |
copy number loss |
Kleefstra syndrome 1 [RCV004720485] |
Chr9:137552082..137728529 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113) |
copy number loss |
Kleefstra syndrome 1 [RCV004720482] |
Chr9:137552409..138052113 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135954288-138125938) |
copy number loss |
Kleefstra syndrome 1 [RCV004720483] |
Chr9:135954288..138125938 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1336A>G (p.Ser446Gly) |
single nucleotide variant |
GRIN1-related disorder [RCV004726268] |
Chr9:137161194 [GRCh38]
Chr9:140055646 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2070T>G (p.Asp690Glu) |
single nucleotide variant |
not provided [RCV004772821] |
Chr9:137162902 [GRCh38]
Chr9:140057354 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.3(chr9:137529711-138129711) |
copy number loss |
Kleefstra syndrome 1 [RCV004720486] |
Chr9:137529711..138129711 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:137106653-138394717) |
copy number loss |
Kleefstra syndrome 1 [RCV004720502] |
Chr9:137106653..138394717 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136032451-138125938) |
copy number loss |
Kleefstra syndrome 1 [RCV004720514] |
Chr9:136032451..138125938 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727) |
copy number loss |
Kleefstra syndrome 1 [RCV004720515] |
Chr9:134288333..138155727 [GRCh38]
Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:137059436-137902321) |
copy number loss |
Kleefstra syndrome 1 [RCV004720509] |
Chr9:137059436..137902321 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136869696-138172039) |
copy number loss |
Kleefstra syndrome 1 [RCV004720516] |
Chr9:136869696..138172039 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135008333-138199729) |
copy number loss |
Kleefstra syndrome 1 [RCV004720511] |
Chr9:135008333..138199729 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135791488-138262981) |
copy number loss |
Kleefstra syndrome 1 [RCV004720522] |
Chr9:135791488..138262981 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136993278-138200863) |
copy number loss |
Kleefstra syndrome 1 [RCV004720533] |
Chr9:136993278..138200863 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.943T>G (p.Trp315Gly) |
single nucleotide variant |
not provided [RCV004769422] |
Chr9:137157012 [GRCh38]
Chr9:140051464 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2196C>G (p.Asp732Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005419774]|not provided [RCV004729610] |
Chr9:137163193 [GRCh38]
Chr9:140057645 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525) |
copy number loss |
Kleefstra syndrome 1 [RCV004720478] |
Chr9:137590213..137817525 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1468G>A (p.Val490Met) |
single nucleotide variant |
not provided [RCV004795093] |
Chr9:137161924 [GRCh38]
Chr9:140056376 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.3(chr9:137569711-138129711) |
copy number loss |
Kleefstra syndrome 1 [RCV004720496] |
Chr9:137569711..138129711 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136817307-138133487) |
copy number loss |
Kleefstra syndrome 1 [RCV004720504] |
Chr9:136817307..138133487 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135204722-138394717) |
copy number loss |
Kleefstra syndrome 1 [RCV004720508] |
Chr9:135204722..138394717 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1448A>G (p.Lys483Arg) |
single nucleotide variant |
not provided [RCV004760103] |
Chr9:137161397 [GRCh38]
Chr9:140055849 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1762C>T (p.Arg588Trp) |
single nucleotide variant |
not provided [RCV004772751] |
Chr9:137162414 [GRCh38]
Chr9:140056866 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.3(chr9:136684941-138124673) |
copy number loss |
Kleefstra syndrome 1 [RCV004720523] |
Chr9:136684941..138124673 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135203306-138100471) |
copy number loss |
Kleefstra syndrome 1 [RCV004720521] |
Chr9:135203306..138100471 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.209A>G (p.Asn70Ser) |
single nucleotide variant |
not provided [RCV004768095] |
Chr9:137139695 [GRCh38]
Chr9:140034147 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.3(chr9:137552082-138394717) |
copy number loss |
Kleefstra syndrome 1 [RCV004720495] |
Chr9:137552082..138394717 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135338745-138124196) |
copy number loss |
Kleefstra syndrome 1 [RCV004720539] |
Chr9:135338745..138124196 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135969078-138104469) |
copy number loss |
Kleefstra syndrome 1 [RCV004720472] |
Chr9:135969078..138104469 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181) |
copy number loss |
Kleefstra syndrome 1 [RCV004720481] |
Chr9:137552409..138059181 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.2341G>A (p.Glu781Lys) |
single nucleotide variant |
not provided [RCV004759924] |
Chr9:137163566 [GRCh38]
Chr9:140058018 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.3(chr9:136806104-138394717) |
copy number loss |
Kleefstra syndrome 1 [RCV004720497] |
Chr9:136806104..138394717 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:134642187-138121999) |
copy number loss |
Kleefstra syndrome 1 [RCV004720503] |
Chr9:134642187..138121999 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159) |
copy number loss |
Kleefstra syndrome 1 [RCV004720487] |
Chr9:137552409..137879159 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1752C>A (p.Ser584Arg) |
single nucleotide variant |
not provided [RCV004766414] |
Chr9:137162404 [GRCh38]
Chr9:140056856 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.284C>A (p.Pro95Gln) |
single nucleotide variant |
not provided [RCV004724040] |
Chr9:137142038 [GRCh38]
Chr9:140036490 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1921A>C (p.Met641Leu) |
single nucleotide variant |
not provided [RCV004720125] |
Chr9:137162647 [GRCh38]
Chr9:140057099 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.2209G>A (p.Glu737Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV004823553] |
Chr9:137163206 [GRCh38]
Chr9:140057658 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1150G>C (p.Gly384Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004982803]|Intellectual disability, autosomal dominant 8 [RCV005110328] |
Chr9:137158657 [GRCh38]
Chr9:140053109 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.571G>A (p.Ala191Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004985621] |
Chr9:137149009 [GRCh38]
Chr9:140043461 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.969-12T>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005196270] |
Chr9:137158367 [GRCh38]
Chr9:140052819 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2014-20C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005196630] |
Chr9:137162826 [GRCh38]
Chr9:140057278 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2668A>G (p.Ser890Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005106902] |
Chr9:137165264 [GRCh38]
Chr9:140059716 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2794T>C (p.Cys932Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005106903] |
Chr9:137167504 [GRCh38]
Chr9:140061956 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2034G>A (p.Lys678=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005068219] |
Chr9:137162866 [GRCh38]
Chr9:140057318 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1864+20G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005146162] |
Chr9:137162536 [GRCh38]
Chr9:140056988 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1465C>A (p.Arg489=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005175551] |
Chr9:137161414 [GRCh38]
Chr9:140055866 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.968+19_968+20delinsAG |
indel |
Intellectual disability, autosomal dominant 8 [RCV005065763] |
Chr9:137157056..137157057 [GRCh38]
Chr9:140051508..140051509 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1770G>A (p.Lys590=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005106468] |
Chr9:137162422 [GRCh38]
Chr9:140056874 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.92C>T (p.Ala31Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005062565] |
Chr9:137139578 [GRCh38]
Chr9:140034030 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2141C>A (p.Ala714Glu) |
single nucleotide variant |
not provided [RCV005065214] |
Chr9:137162973 [GRCh38]
Chr9:140057425 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.794-12A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005174334] |
Chr9:137156851 [GRCh38]
Chr9:140051303 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.39C>T (p.Phe13=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005175068] |
Chr9:137139525 [GRCh38]
Chr9:140033977 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.121A>T (p.Met41Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005173750] |
Chr9:137139607 [GRCh38]
Chr9:140034059 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2333+16C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005174238] |
Chr9:137163346 [GRCh38]
Chr9:140057798 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1114G>C (p.Val372Leu) |
single nucleotide variant |
not provided [RCV005054897] |
Chr9:137158621 [GRCh38]
Chr9:140053073 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1864+18C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005111297] |
Chr9:137162534 [GRCh38]
Chr9:140056986 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2160C>T (p.Ala720=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005184435] |
Chr9:137162992 [GRCh38]
Chr9:140057444 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.489C>T (p.Ile163=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005135625] |
Chr9:137145821 [GRCh38]
Chr9:140040273 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.258G>T (p.Gln86His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005127219] |
Chr9:137139744 [GRCh38]
Chr9:140034196 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1856T>C (p.Ile619Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005139335] |
Chr9:137162508 [GRCh38]
Chr9:140056960 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.357G>T (p.Leu119=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005139544] |
Chr9:137142111 [GRCh38]
Chr9:140036563 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1937C>T (p.Ser646Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005117226] |
Chr9:137162663 [GRCh38]
Chr9:140057115 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2587C>A (p.Gln863Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005164508] |
Chr9:137163902 [GRCh38]
Chr9:140058354 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.843C>A (p.Ile281=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005199551] |
Chr9:137156912 [GRCh38]
Chr9:140051364 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2299C>T (p.Pro767Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005119283] |
Chr9:137163296 [GRCh38]
Chr9:140057748 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2334-6del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV005130660] |
Chr9:137163552 [GRCh38]
Chr9:140058004 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1865-3C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005132554] |
Chr9:137162588 [GRCh38]
Chr9:140057040 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2550G>A (p.Leu850=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005194327] |
Chr9:137163865 [GRCh38]
Chr9:140058317 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.968+10G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005080762] |
Chr9:137157047 [GRCh38]
Chr9:140051499 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.259-18T>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005140367] |
Chr9:137141995 [GRCh38]
Chr9:140036447 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.394-9C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005125286] |
Chr9:137145717 [GRCh38]
Chr9:140040169 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.968+13T>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005130971] |
Chr9:137157050 [GRCh38]
Chr9:140051502 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.898A>G (p.Asn300Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005132072] |
Chr9:137156967 [GRCh38]
Chr9:140051419 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1633-4G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005132216] |
Chr9:137162168 [GRCh38]
Chr9:140056620 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.793+6T>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005131100] |
Chr9:137156796 [GRCh38]
Chr9:140051248 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1865-17C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005108859] |
Chr9:137162574 [GRCh38]
Chr9:140057026 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1752C>T (p.Ser584=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005187966] |
Chr9:137162404 [GRCh38]
Chr9:140056856 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1113+8G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005118745] |
Chr9:137158531 [GRCh38]
Chr9:140052983 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1431C>G (p.His477Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005122986] |
Chr9:137161380 [GRCh38]
Chr9:140055832 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1339+28_1339+34del |
microsatellite |
Intellectual disability, autosomal dominant 8 [RCV005166024] |
Chr9:137161214..137161220 [GRCh38]
Chr9:140055666..140055672 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2537del (p.Lys846fs) |
deletion |
Intellectual disability, autosomal dominant 8 [RCV005143407] |
Chr9:137163851 [GRCh38]
Chr9:140058303 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1339+9G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005069099] |
Chr9:137161206 [GRCh38]
Chr9:140055658 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.828C>T (p.Asn276=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005187904] |
Chr9:137156897 [GRCh38]
Chr9:140051349 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1160A>G (p.Glu387Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005081869] |
Chr9:137158667 [GRCh38]
Chr9:140053119 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.968+12_968+32del |
deletion |
Intellectual disability, autosomal dominant 8 [RCV005168462] |
Chr9:137157039..137157059 [GRCh38]
Chr9:140051491..140051511 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.980C>A (p.Ser327Tyr) |
single nucleotide variant |
not provided [RCV005242034] |
Chr9:137158390 [GRCh38]
Chr9:140052842 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1655A>T (p.Asp552Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005198320] |
Chr9:137162194 [GRCh38]
Chr9:140056646 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2392T>A (p.Cys798Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005198322] |
Chr9:137163617 [GRCh38]
Chr9:140058069 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1339+16A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005206764] |
Chr9:137161213 [GRCh38]
Chr9:140055665 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.96G>T (p.Val32=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005115414] |
Chr9:137139582 [GRCh38]
Chr9:140034034 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1236G>T (p.Lys412Asn) |
single nucleotide variant |
not provided [RCV005233794] |
Chr9:137161094 [GRCh38]
Chr9:140055546 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2014-15C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005119475] |
Chr9:137162831 [GRCh38]
Chr9:140057283 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2484C>T (p.Ile828=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005142377] |
Chr9:137163799 [GRCh38]
Chr9:140058251 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.909C>G (p.Asp303Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005144764] |
Chr9:137156978 [GRCh38]
Chr9:140051430 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.798C>T (p.Ile266=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005078406] |
Chr9:137156867 [GRCh38]
Chr9:140051319 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2646T>G (p.Ala882=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005203970] |
Chr9:137165242 [GRCh38]
Chr9:140059694 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2088G>C (p.Gln696His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005129152] |
Chr9:137162920 [GRCh38]
Chr9:140057372 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2756G>C (p.Arg919Pro) |
single nucleotide variant |
not provided [RCV005242912] |
Chr9:137167466 [GRCh38]
Chr9:140061918 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2575C>A (p.Arg859=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005191887] |
Chr9:137163890 [GRCh38]
Chr9:140058342 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1114-11C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005206965] |
Chr9:137158610 [GRCh38]
Chr9:140053062 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2172-15C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005159447] |
Chr9:137163154 [GRCh38]
Chr9:140057606 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2706C>T (p.Thr902=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005082376] |
Chr9:137167416 [GRCh38]
Chr9:140061868 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.901A>G (p.Ile301Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005117021] |
Chr9:137156970 [GRCh38]
Chr9:140051422 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.910C>T (p.Pro304Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005119164] |
Chr9:137156979 [GRCh38]
Chr9:140051431 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.75G>T (p.Lys25Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005198309] |
Chr9:137139561 [GRCh38]
Chr9:140034013 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.639G>C (p.Glu213Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005198312] |
Chr9:137149077 [GRCh38]
Chr9:140043529 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1227G>A (p.Val409=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005071053] |
Chr9:137161085 [GRCh38]
Chr9:140055537 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.105_106delinsAA (p.Thr35_Arg36=) |
indel |
Intellectual disability, autosomal dominant 8 [RCV005076816] |
Chr9:137139591..137139592 [GRCh38]
Chr9:140034043..140034044 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.733dup (p.Tyr245fs) |
duplication |
Intellectual disability, autosomal dominant 8 [RCV005130341] |
Chr9:137156729..137156730 [GRCh38]
Chr9:140051181..140051182 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.466C>T (p.Arg156Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005163096] |
Chr9:137145798 [GRCh38]
Chr9:140040250 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2693A>G (p.Lys898Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005166903] |
Chr9:137165289 [GRCh38]
Chr9:140059741 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2562del (p.Val855fs) |
deletion |
Intellectual disability, autosomal dominant 8 [RCV005163169] |
Chr9:137163876 [GRCh38]
Chr9:140058328 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.672-14C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005139187] |
Chr9:137156655 [GRCh38]
Chr9:140051107 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1786G>A (p.Glu596Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005141097]|not provided [RCV005416789] |
Chr9:137162438 [GRCh38]
Chr9:140056890 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2444-3_2470dup |
duplication |
Intellectual disability, autosomal dominant 8 [RCV005121131] |
Chr9:137163753..137163754 [GRCh38]
Chr9:140058205..140058206 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.394-5C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005189086] |
Chr9:137145721 [GRCh38]
Chr9:140040173 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.514G>C (p.Glu172Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005134876] |
Chr9:137145846 [GRCh38]
Chr9:140040298 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.984C>T (p.Ser328=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005140298] |
Chr9:137158394 [GRCh38]
Chr9:140052846 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1339+20C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005166661] |
Chr9:137161217 [GRCh38]
Chr9:140055669 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.956C>T (p.Pro319Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005077620] |
Chr9:137157025 [GRCh38]
Chr9:140051477 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2457G>A (p.Leu819=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005137433] |
Chr9:137163772 [GRCh38]
Chr9:140058224 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1340-17C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005192598] |
Chr9:137161272 [GRCh38]
Chr9:140055724 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.65G>A (p.Cys22Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005192638] |
Chr9:137139551 [GRCh38]
Chr9:140034003 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2333+7G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005128304] |
Chr9:137163337 [GRCh38]
Chr9:140057789 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.508G>A (p.Asp170Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005151645] |
Chr9:137145840 [GRCh38]
Chr9:140040292 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1A>G (p.Met1Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005126008] |
Chr9:137139487 [GRCh38]
Chr9:140033939 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1865-19_1865-18delinsAA |
indel |
Intellectual disability, autosomal dominant 8 [RCV005150549] |
Chr9:137162572..137162573 [GRCh38]
Chr9:140057024..140057025 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.793+11G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005203363] |
Chr9:137156801 [GRCh38]
Chr9:140051253 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.755G>A (p.Arg252His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005123796] |
Chr9:137156752 [GRCh38]
Chr9:140051204 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.968+20A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005125292] |
Chr9:137157057 [GRCh38]
Chr9:140051509 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1257A>C (p.Thr419=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005149360] |
Chr9:137161115 [GRCh38]
Chr9:140055567 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1266G>A (p.Glu422=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005177950] |
Chr9:137161124 [GRCh38]
Chr9:140055576 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.462G>T (p.Met154Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005126490] |
Chr9:137145794 [GRCh38]
Chr9:140040246 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2073C>G (p.Ile691Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005130091] |
Chr9:137162905 [GRCh38]
Chr9:140057357 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1284C>T (p.Gly428=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005205003] |
Chr9:137161142 [GRCh38]
Chr9:140055594 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1752-9G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005205007] |
Chr9:137162395 [GRCh38]
Chr9:140056847 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1722C>G (p.Ala574=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005178444] |
Chr9:137162261 [GRCh38]
Chr9:140056713 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1722C>A (p.Ala574=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005129081] |
Chr9:137162261 [GRCh38]
Chr9:140056713 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.2589G>A (p.Gln863=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005125545] |
Chr9:137163904 [GRCh38]
Chr9:140058356 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1494G>T (p.Trp498Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005198318] |
Chr9:137161950 [GRCh38]
Chr9:140056402 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1622T>G (p.Leu541Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005198319] |
Chr9:137162078 [GRCh38]
Chr9:140056530 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2562C>A (p.Ala854=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005153575] |
Chr9:137163877 [GRCh38]
Chr9:140058329 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.305T>G (p.Phe102Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005176481] |
Chr9:137142059 [GRCh38]
Chr9:140036511 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1369G>A (p.Gly457Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005125807] |
Chr9:137161318 [GRCh38]
Chr9:140055770 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.727T>G (p.Ser243Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005122643] |
Chr9:137156724 [GRCh38]
Chr9:140051176 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1935C>T (p.Ala645=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005150290] |
Chr9:137162661 [GRCh38]
Chr9:140057113 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1125T>A (p.Asn375Lys) |
single nucleotide variant |
not provided [RCV005251814] |
Chr9:137158632 [GRCh38]
Chr9:140053084 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1933G>C (p.Ala645Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005253317] |
Chr9:137162659 [GRCh38]
Chr9:140057111 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1387C>T (p.Leu463Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005400653] |
Chr9:137161336 [GRCh38]
Chr9:140055788 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2651C>T (p.Thr884Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV005353806] |
Chr9:137165247 [GRCh38]
Chr9:140059699 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2381G>T (p.Arg794Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005252561] |
Chr9:137163606 [GRCh38]
Chr9:140058058 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1752-1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005255946] |
Chr9:137162403 [GRCh38]
Chr9:140056855 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.2204T>A (p.Val735Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005413257] |
Chr9:137163201 [GRCh38]
Chr9:140057653 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.83A>T (p.Asn28Ile) |
single nucleotide variant |
not provided [RCV005254613] |
Chr9:137139569 [GRCh38]
Chr9:140034021 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.508G>C (p.Asp170His) |
single nucleotide variant |
not provided [RCV005251863] |
Chr9:137145840 [GRCh38]
Chr9:140040292 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1942A>C (p.Thr648Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005253335] |
Chr9:137162668 [GRCh38]
Chr9:140057120 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.27C>T (p.Leu9=) |
single nucleotide variant |
not specified [RCV005418807] |
Chr9:137139513 [GRCh38]
Chr9:140033965 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_007327.4(GRIN1):c.1600A>C (p.Lys534Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005417545] |
Chr9:137162056 [GRCh38]
Chr9:140056508 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1924A>T (p.Ile642Phe) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005417543] |
Chr9:137162650 [GRCh38]
Chr9:140057102 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1558AAC[1] (p.Asn521del) |
microsatellite |
Intellectual disability, autosomal dominant 8 [RCV005417544] |
Chr9:137162014..137162016 [GRCh38]
Chr9:140056466..140056468 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_007327.4(GRIN1):c.1922T>A (p.Met641Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 8 [RCV005417537] |
Chr9:137162648 [GRCh38]
Chr9:140057100 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1676A>G (p.Gln559Arg) |
single nucleotide variant |
not provided [RCV005410506] |
Chr9:137162215 [GRCh38]
Chr9:140056667 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_007327.4(GRIN1):c.1312G>A (p.Gly438Arg) |
single nucleotide variant |
not provided [RCV005410692] |
Chr9:137161170 [GRCh38]
Chr9:140055622 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.*301A>G |
single nucleotide variant |
not provided [RCV005413623] |
Chr9:137167828 [GRCh38]
Chr9:140062280 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_007327.4(GRIN1):c.1583A>G (p.Glu528Gly) |
single nucleotide variant |
not provided [RCV005416839] |
Chr9:137162039 [GRCh38]
Chr9:140056491 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
