| 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(chr9:121112395-138075224)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 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 9q34.13(chr9:131702422-132271840)x3 |
copy number gain |
See cases [RCV000052258] |
Chr9:131702422..132271840 [GRCh38]
Chr9:134577809..135147227 [GRCh37]
Chr9:133567630..134137048 [NCBI36]
Chr9:9q34.13 |
uncertain significance |
| GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1 |
copy number loss |
See cases [RCV000052935] |
Chr9:129949815..132342490 [GRCh38]
Chr9:132712094..135217877 [GRCh37]
Chr9:131751915..134207698 [NCBI36]
Chr9:9q34.11-34.13 |
pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 |
copy number gain |
See cases [RCV000053779] |
Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3 |
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 9q34.13-34.2(chr9:131406683-133852779)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] |
Chr9:131406683..133852779 [GRCh38]
Chr9:134282070..136717901 [GRCh37]
Chr9:133271891..135707722 [NCBI36]
Chr9:9q34.13-34.2 |
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 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 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 |
| 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 |
| 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(chr9:132018736-132237086)x1 |
copy number loss |
See cases [RCV000137314] |
Chr9:132018736..132237086 [GRCh38]
Chr9:134894123..135112473 [GRCh37]
Chr9:133883944..134102294 [NCBI36]
Chr9:9q34.13 |
uncertain significance |
| 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 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 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(chr9:203861-138125937)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 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 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 |
| 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 |
| 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 |
| 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 9q33.2-34.3(chr9:124642754-141146461)x3 |
copy number gain |
See cases [RCV000448784] |
Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3 |
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 |
| NM_032536.4(NTNG2):c.1408C>G (p.Leu470Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003302393] |
Chr9:132241926 [GRCh38]
Chr9:135117313 [GRCh37]
Chr9:9q34.13 |
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 |
| 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 |
| GRCh37/hg19 9q34.13(chr9:135056357-135568321)x3 |
copy number gain |
not provided [RCV000683125] |
Chr9:135056357..135568321 [GRCh37]
Chr9:9q34.13 |
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 |
| 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 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_032536.4(NTNG2):c.1065C>G (p.Cys355Trp) |
single nucleotide variant |
Neurodevelopmental disorder [RCV000852333]|Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV000984636] |
Chr9:132239114 [GRCh38]
Chr9:135114501 [GRCh37]
Chr9:9q34.13 |
pathogenic|likely pathogenic |
| NM_032536.4(NTNG2):c.1431C>T (p.Cys477=) |
single nucleotide variant |
not provided [RCV000924139] |
Chr9:132241949 [GRCh38]
Chr9:135117336 [GRCh37]
Chr9:9q34.13 |
likely benign |
| NM_032536.4(NTNG2):c.717C>T (p.Ser239=) |
single nucleotide variant |
not provided [RCV000903956] |
Chr9:132198469 [GRCh38]
Chr9:135073856 [GRCh37]
Chr9:9q34.13 |
benign|likely benign |
| NM_032536.4(NTNG2):c.858-3C>T |
single nucleotide variant |
not provided [RCV000902335] |
Chr9:132226846 [GRCh38]
Chr9:135102233 [GRCh37]
Chr9:9q34.13 |
benign |
| 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_032536.4(NTNG2):c.27G>A (p.Leu9=) |
single nucleotide variant |
not provided [RCV000915678] |
Chr9:132166858 [GRCh38]
Chr9:135042245 [GRCh37]
Chr9:9q34.13 |
likely benign |
| NM_032536.4(NTNG2):c.214-7G>A |
single nucleotide variant |
not provided [RCV000941727] |
Chr9:132197959 [GRCh38]
Chr9:135073346 [GRCh37]
Chr9:9q34.13 |
likely benign |
| NC_000009.11:g.(?_134379574)_(138678377_?)dup |
duplication |
Ehlers-Danlos syndrome, classic type [RCV000807925] |
Chr9:134379574..138678377 [GRCh37]
Chr9:9q34.13-34.3 |
uncertain significance |
| NM_032536.4(NTNG2):c.376dup (p.Ser126fs) |
duplication |
Global developmental delay [RCV000851301]|Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV000984633] |
Chr9:132198125..132198126 [GRCh38]
Chr9:135073512..135073513 [GRCh37]
Chr9:9q34.13 |
pathogenic |
| NM_032536.4(NTNG2):c.242G>A (p.Cys81Tyr) |
single nucleotide variant |
Neurodevelopmental disorder [RCV000852334]|Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV000984637] |
Chr9:132197994 [GRCh38]
Chr9:135073381 [GRCh37]
Chr9:9q34.13 |
pathogenic|likely pathogenic |
| 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_032536.4(NTNG2):c.446T>C (p.Met149Thr) |
single nucleotide variant |
Neurodevelopmental disorder [RCV000852335]|Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV000984638]|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001254721] |
Chr9:132198198 [GRCh38]
Chr9:135073585 [GRCh37]
Chr9:9q34.13 |
pathogenic|likely pathogenic|uncertain significance |
| NM_032536.4(NTNG2):c.599C>T (p.Ser200Leu) |
single nucleotide variant |
Neurodevelopmental disorder [RCV000852336] |
Chr9:132198351 [GRCh38]
Chr9:135073738 [GRCh37]
Chr9:9q34.13 |
likely pathogenic |
| NM_032536.4(NTNG2):c.1367G>A (p.Cys456Tyr) |
single nucleotide variant |
Neurodevelopmental disorder [RCV000852330]|Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV000984634] |
Chr9:132241885 [GRCh38]
Chr9:135117272 [GRCh37]
Chr9:9q34.13 |
pathogenic|likely pathogenic |
| NM_032536.4(NTNG2):c.319T>G (p.Trp107Gly) |
single nucleotide variant |
Neurodevelopmental disorder [RCV000852331]|Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV000984635] |
Chr9:132198071 [GRCh38]
Chr9:135073458 [GRCh37]
Chr9:9q34.13 |
pathogenic|likely pathogenic |
| NM_032536.4(NTNG2):c.1076C>G (p.Ser359Cys) |
single nucleotide variant |
Neurodevelopmental disorder [RCV000852332]|Neurodevelopmental disorder with hypotonia, seizures, and absent language [RCV001254722] |
Chr9:132239125 [GRCh38]
Chr9:135114512 [GRCh37]
Chr9:9q34.13 |
likely pathogenic|uncertain significance |
| NM_032536.4(NTNG2):c.134G>A (p.Arg45His) |
single nucleotide variant |
not provided [RCV000957621] |
Chr9:132166965 [GRCh38]
Chr9:135042352 [GRCh37]
Chr9:9q34.13 |
benign|likely benign |
| NM_032536.4(NTNG2):c.738C>T (p.Phe246=) |
single nucleotide variant |
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV001788599]|not provided [RCV001596015] |
Chr9:132198490 [GRCh38]
Chr9:135073877 [GRCh37]
Chr9:9q34.13 |
benign |
| GRCh37/hg19 9q34.13(chr9:134921153-135214984)x3 |
copy number gain |
not provided [RCV001259531] |
Chr9:134921153..135214984 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.1425C>G (p.Cys475Trp) |
single nucleotide variant |
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV001310225] |
Chr9:132241943 [GRCh38]
Chr9:135117330 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.858-13G>A |
single nucleotide variant |
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV001310224] |
Chr9:132226836 [GRCh38]
Chr9:135102223 [GRCh37]
Chr9:9q34.13 |
conflicting interpretations of pathogenicity |
| NM_032536.4(NTNG2):c.876C>T (p.His292=) |
single nucleotide variant |
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV001788781]|not provided [RCV001688034] |
Chr9:132226867 [GRCh38]
Chr9:135102254 [GRCh37]
Chr9:9q34.13 |
benign |
| NM_032536.4(NTNG2):c.1036A>G (p.Thr346Ala) |
single nucleotide variant |
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV001788884] |
Chr9:132230577 [GRCh38]
Chr9:135105964 [GRCh37]
Chr9:9q34.13 |
benign |
| NM_032536.4(NTNG2):c.422T>C (p.Phe141Ser) |
single nucleotide variant |
Abnormality of the nervous system [RCV001814439] |
Chr9:132198174 [GRCh38]
Chr9:135073561 [GRCh37]
Chr9:9q34.13 |
likely pathogenic |
| 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 |
| NC_000009.11:g.(?_133884602)_(135942612_?)dup |
duplication |
not provided [RCV003116502] |
Chr9:133884602..135942612 [GRCh37]
Chr9:9q34.12-34.2 |
uncertain significance |
| NC_000009.11:g.(?_131857676)_(135942612_?)dup |
duplication |
not provided [RCV003116730] |
Chr9:131857676..135942612 [GRCh37]
Chr9:9q34.11-34.2 |
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 |
| NM_032536.4(NTNG2):c.147C>T (p.Tyr49=) |
single nucleotide variant |
not provided [RCV002276466] |
Chr9:132166978 [GRCh38]
Chr9:135042365 [GRCh37]
Chr9:9q34.13 |
likely benign |
| NM_032536.4(NTNG2):c.1058G>A (p.Cys353Tyr) |
single nucleotide variant |
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV002283922] |
Chr9:132239107 [GRCh38]
Chr9:135114494 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.803G>A (p.Arg268Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002687309] |
Chr9:132198555 [GRCh38]
Chr9:135073942 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.547C>G (p.Arg183Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002794222]|not provided [RCV003328719] |
Chr9:132198299 [GRCh38]
Chr9:135073686 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.1301C>G (p.Ala434Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002749057] |
Chr9:132240988 [GRCh38]
Chr9:135116375 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.1301C>T (p.Ala434Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002863917] |
Chr9:132240988 [GRCh38]
Chr9:135116375 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.647G>T (p.Arg216Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002798019] |
Chr9:132198399 [GRCh38]
Chr9:135073786 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.1485C>A (p.Asp495Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002693683] |
Chr9:132242003 [GRCh38]
Chr9:135117390 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.1574C>T (p.Ala525Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002797693] |
Chr9:132242092 [GRCh38]
Chr9:135117479 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.995C>T (p.Ser332Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002789803] |
Chr9:132226986 [GRCh38]
Chr9:135102373 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.1357C>T (p.Pro453Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002803373] |
Chr9:132241044 [GRCh38]
Chr9:135116431 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.974C>T (p.Thr325Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002673159] |
Chr9:132226965 [GRCh38]
Chr9:135102352 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.905G>A (p.Ser302Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002934639] |
Chr9:132226896 [GRCh38]
Chr9:135102283 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.1120G>A (p.Val374Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002656225] |
Chr9:132239169 [GRCh38]
Chr9:135114556 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.1043G>T (p.Gly348Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003197775] |
Chr9:132230584 [GRCh38]
Chr9:135105971 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.718G>A (p.Ala240Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003214900] |
Chr9:132198470 [GRCh38]
Chr9:135073857 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.977G>A (p.Arg326Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003194697] |
Chr9:132226968 [GRCh38]
Chr9:135102355 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.964A>C (p.Asn322His) |
single nucleotide variant |
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [RCV003225683] |
Chr9:132226955 [GRCh38]
Chr9:135102342 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.1492G>A (p.Gly498Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003302394] |
Chr9:132242010 [GRCh38]
Chr9:135117397 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.1526C>T (p.Ala509Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003212399] |
Chr9:132242044 [GRCh38]
Chr9:135117431 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.949G>A (p.Gly317Ser) |
single nucleotide variant |
Intellectual developmental disorder with macrocephaly, seizures, and speech delay [RCV003338104] |
Chr9:132226940 [GRCh38]
Chr9:135102327 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.409G>A (p.Val137Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003375068] |
Chr9:132198161 [GRCh38]
Chr9:135073548 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.935C>T (p.Thr312Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003363715] |
Chr9:132226926 [GRCh38]
Chr9:135102313 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.921C>T (p.Cys307=) |
single nucleotide variant |
not provided [RCV003430333] |
Chr9:132226912 [GRCh38]
Chr9:135102299 [GRCh37]
Chr9:9q34.13 |
likely benign |
| NM_032536.4(NTNG2):c.471C>T (p.Asn157=) |
single nucleotide variant |
not provided [RCV003425842] |
Chr9:132198223 [GRCh38]
Chr9:135073610 [GRCh37]
Chr9:9q34.13 |
likely benign |
| NM_032536.4(NTNG2):c.348C>G (p.Pro116=) |
single nucleotide variant |
not provided [RCV003430332] |
Chr9:132198100 [GRCh38]
Chr9:135073487 [GRCh37]
Chr9:9q34.13 |
likely benign |
| NM_032536.4(NTNG2):c.214-8C>G |
single nucleotide variant |
not provided [RCV003425841] |
Chr9:132197958 [GRCh38]
Chr9:135073345 [GRCh37]
Chr9:9q34.13 |
benign |
| NM_032536.4(NTNG2):c.615C>G (p.Ser205=) |
single nucleotide variant |
not provided [RCV003425843] |
Chr9:132198367 [GRCh38]
Chr9:135073754 [GRCh37]
Chr9:9q34.13 |
likely benign |
| GRCh37/hg19 9q34.13(chr9:135056358-135636431)x1 |
copy number loss |
not specified [RCV003986849] |
Chr9:135056358..135636431 [GRCh37]
Chr9:9q34.13 |
uncertain significance |
| NM_032536.4(NTNG2):c.1582C>T (p.Leu528=) |
single nucleotide variant |
not provided [RCV003887484] |
Chr9:132242100 [GRCh38]
Chr9:135117487 [GRCh37]
Chr9:9q34.13 |
likely benign |
