| NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV000723290]|not provided [RCV002533073] |
Chr12:119701858 [GRCh38]
Chr12:120139663 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 |
copy number gain |
See cases [RCV000050866] |
Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33 |
pathogenic |
| GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 |
copy number gain |
See cases [RCV000051981] |
Chr12:119286893..122638552 [GRCh38]
Chr12:119724698..123123099 [GRCh37]
Chr12:118209081..121689052 [NCBI36]
Chr12:12q24.23-24.31 |
uncertain significance |
| GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 |
copy number gain |
See cases [RCV000053689] |
Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33 |
pathogenic |
| GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] |
Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33 |
pathogenic |
| NM_001206999.2(CIT):c.29_38del (p.Asn10fs) |
deletion |
Autosomal recessive primary microcephaly [RCV000234954]|Microcephaly 17, primary, autosomal recessive [RCV000240609] |
Chr12:119876131..119876140 [GRCh38]
Chr12:120313935..120313944 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.957+280C>T |
single nucleotide variant |
not provided [RCV001545468] |
Chr12:119824885 [GRCh38]
Chr12:120262689 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3157-5T>G |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001331821] |
Chr12:119734362 [GRCh38]
Chr12:120172167 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4691C>A (p.Pro1564Gln) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001331822]|not provided [RCV001773666] |
Chr12:119712341 [GRCh38]
Chr12:120150146 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4898G>A (p.Arg1633His) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001331824] |
Chr12:119710577 [GRCh38]
Chr12:120148382 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.1(CIT):c.5026C>T (p.Gln1676Ter) |
single nucleotide variant |
Malignant melanoma [RCV000069847] |
Chr12:119710296 [GRCh38]
Chr12:120148101 [GRCh37]
Chr12:118632484 [NCBI36]
Chr12:12q24.23 |
not provided |
| NM_001206999.1(CIT):c.2646C>T (p.Ile882=) |
single nucleotide variant |
Malignant melanoma [RCV000069848] |
Chr12:119757431 [GRCh38]
Chr12:120195235 [GRCh37]
Chr12:118679618 [NCBI36]
Chr12:12q24.23 |
not provided |
| GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 |
copy number gain |
See cases [RCV000143656] |
Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33 |
pathogenic |
| NM_001206999.2(CIT):c.5783C>T (p.Ala1928Val) |
single nucleotide variant |
Long QT syndrome [RCV000190241] |
Chr12:119697758 [GRCh38]
Chr12:120135563 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5786C>A (p.Ser1929Tyr) |
single nucleotide variant |
Long QT syndrome [RCV000190154] |
Chr12:119697755 [GRCh38]
Chr12:120135560 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
| NM_001206999.2(CIT):c.473C>G (p.Pro158Arg) |
single nucleotide variant |
Autosomal recessive primary microcephaly [RCV000239406] |
Chr12:119850217 [GRCh38]
Chr12:120288021 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.1111+1G>A |
single nucleotide variant |
Autosomal recessive primary microcephaly [RCV000239414]|Microcephaly 17, primary, autosomal recessive [RCV000240615] |
Chr12:119822819 [GRCh38]
Chr12:120260623 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.412C>T (p.Gln138Ter) |
single nucleotide variant |
Autosomal recessive primary microcephaly [RCV000239424] |
Chr12:119857525 [GRCh38]
Chr12:120295329 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.317G>T (p.Gly106Val) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV000240608] |
Chr12:119857620 [GRCh38]
Chr12:120295424 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.376A>C (p.Lys126Gln) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV000240614] |
Chr12:119857561 [GRCh38]
Chr12:120295365 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.689A>T (p.Asp230Val) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV000240618] |
Chr12:119832835 [GRCh38]
Chr12:120270639 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.753+3A>T |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV000240619] |
Chr12:119832768 [GRCh38]
Chr12:120270572 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.2871A>G (p.Thr957=) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001579021]|not provided [RCV001638177] |
Chr12:119752083 [GRCh38]
Chr12:120189888 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5590G>A (p.Asp1864Asn) |
single nucleotide variant |
not provided [RCV001572797] |
Chr12:119700778 [GRCh38]
Chr12:120138583 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5305-211T>C |
single nucleotide variant |
not provided [RCV001571923] |
Chr12:119702169 [GRCh38]
Chr12:120139974 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5071+64G>A |
single nucleotide variant |
not provided [RCV001574660] |
Chr12:119710187 [GRCh38]
Chr12:120147992 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.6149C>A (p.Ala2050Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003268811] |
Chr12:119690188 [GRCh38]
Chr12:120127993 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.753+8del |
deletion |
not provided [RCV000585299] |
Chr12:119832763 [GRCh38]
Chr12:120270567 [GRCh37]
Chr12:12q24.23 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)x3 |
copy number gain |
See cases [RCV000447605] |
Chr12:118486842..120995382 [GRCh37]
Chr12:12q24.23-24.31 |
likely pathogenic |
| GRCh37/hg19 12q24.23(chr12:120261040-120547614)x3 |
copy number gain |
See cases [RCV000448497] |
Chr12:120261040..120547614 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.67C>T (p.Arg23Trp) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001712450]|not provided [RCV000483522] |
Chr12:119876102 [GRCh38]
Chr12:120313906 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5861G>A (p.Arg1954Gln) |
single nucleotide variant |
not specified [RCV000501200] |
Chr12:119697680 [GRCh38]
Chr12:120135485 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_001206999.2(CIT):c.3006C>T (p.Asn1002=) |
single nucleotide variant |
CIT-related condition [RCV003902764]|not provided [RCV000957124]|not specified [RCV000504383] |
Chr12:119735310 [GRCh38]
Chr12:120173115 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.4224C>T (p.Asn1408=) |
single nucleotide variant |
not provided [RCV000953320]|not specified [RCV000502298] |
Chr12:119714279 [GRCh38]
Chr12:120152084 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_001206999.2(CIT):c.4173T>G (p.Phe1391Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003294960] |
Chr12:119714330 [GRCh38]
Chr12:120152135 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1105C>A (p.Arg369Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003265274] |
Chr12:119822826 [GRCh38]
Chr12:120260630 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4959A>C (p.Glu1653Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV000624085] |
Chr12:119710363 [GRCh38]
Chr12:120148168 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2429A>G (p.Asn810Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003251683] |
Chr12:119758693 [GRCh38]
Chr12:120196497 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2360T>C (p.Met787Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003242347] |
Chr12:119761000 [GRCh38]
Chr12:120198804 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4130C>T (p.Pro1377Leu) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV000678328]|not provided [RCV003768026] |
Chr12:119718283 [GRCh38]
Chr12:120156088 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3350+5G>A |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV000723289]|not provided [RCV001759442] |
Chr12:119734159 [GRCh38]
Chr12:120171964 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4077C>T (p.Ser1359=) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001579017]|not provided [RCV001655912] |
Chr12:119718336 [GRCh38]
Chr12:120156141 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3271G>A (p.Val1091Ile) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV003146215]|not provided [RCV001541080] |
Chr12:119734243 [GRCh38]
Chr12:120172048 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_001206999.2(CIT):c.34T>C (p.Leu12=) |
single nucleotide variant |
not provided [RCV000937718] |
Chr12:119876135 [GRCh38]
Chr12:120313939 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4307-40A>G |
single nucleotide variant |
not provided [RCV001690936] |
Chr12:119713688 [GRCh38]
Chr12:120151493 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3733-123T>G |
single nucleotide variant |
not provided [RCV001707204] |
Chr12:119720708 [GRCh38]
Chr12:120158513 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4579+104A>G |
single nucleotide variant |
not provided [RCV001644295] |
Chr12:119713099 [GRCh38]
Chr12:120150904 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5624-70A>G |
single nucleotide variant |
not provided [RCV001612471] |
Chr12:119698124 [GRCh38]
Chr12:120135929 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5211+321G>C |
single nucleotide variant |
not provided [RCV001709153] |
Chr12:119707858 [GRCh38]
Chr12:120145663 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2905-92C>T |
single nucleotide variant |
not provided [RCV001546152] |
Chr12:119742556 [GRCh38]
Chr12:120180361 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2083-297A>G |
single nucleotide variant |
not provided [RCV001690582] |
Chr12:119771207 [GRCh38]
Chr12:120209011 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5212-223G>A |
single nucleotide variant |
not provided [RCV001535366] |
Chr12:119704678 [GRCh38]
Chr12:120142483 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.238+94G>A |
single nucleotide variant |
not provided [RCV001566649] |
Chr12:119868966 [GRCh38]
Chr12:120306770 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5305-108A>G |
single nucleotide variant |
not provided [RCV001574102] |
Chr12:119702066 [GRCh38]
Chr12:120139871 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4114A>G (p.Met1372Val) |
single nucleotide variant |
not provided [RCV001586379] |
Chr12:119718299 [GRCh38]
Chr12:120156104 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2706+238dup |
duplication |
not provided [RCV001680857] |
Chr12:119757117..119757118 [GRCh38]
Chr12:120194921..120194922 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2208+305C>T |
single nucleotide variant |
not provided [RCV001585441] |
Chr12:119770480 [GRCh38]
Chr12:120208284 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2305-155C>T |
single nucleotide variant |
not provided [RCV001666174] |
Chr12:119761210 [GRCh38]
Chr12:120199014 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3841-144C>T |
single nucleotide variant |
not provided [RCV001551288] |
Chr12:119719005 [GRCh38]
Chr12:120156810 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.958-104_958-103dup |
duplication |
not provided [RCV001570254] |
Chr12:119823068..119823069 [GRCh38]
Chr12:120260872..120260873 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.958-88G>A |
single nucleotide variant |
not provided [RCV001668055] |
Chr12:119823061 [GRCh38]
Chr12:120260865 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3157-11C>T |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001579019]|not provided [RCV001685536] |
Chr12:119734368 [GRCh38]
Chr12:120172173 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5304+44C>A |
single nucleotide variant |
not provided [RCV001570776] |
Chr12:119704319 [GRCh38]
Chr12:120142124 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1666-36C>T |
single nucleotide variant |
not provided [RCV001549923] |
Chr12:119776878 [GRCh38]
Chr12:120214682 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.452G>A (p.Arg151Gln) |
single nucleotide variant |
not provided [RCV000965915] |
Chr12:119850238 [GRCh38]
Chr12:120288042 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.2007C>T (p.Ala669=) |
single nucleotide variant |
CIT-related condition [RCV003960451]|not provided [RCV000926605] |
Chr12:119772845 [GRCh38]
Chr12:120210649 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3180G>A (p.Thr1060=) |
single nucleotide variant |
not provided [RCV000904978] |
Chr12:119734334 [GRCh38]
Chr12:120172139 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2997C>G (p.Thr999=) |
single nucleotide variant |
not provided [RCV000899244] |
Chr12:119735319 [GRCh38]
Chr12:120173124 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4275G>C (p.Val1425=) |
single nucleotide variant |
not provided [RCV000924017]|not specified [RCV001818881] |
Chr12:119714228 [GRCh38]
Chr12:120152033 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3129A>C (p.Arg1043=) |
single nucleotide variant |
not provided [RCV000902554] |
Chr12:119735187 [GRCh38]
Chr12:120172992 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4053C>T (p.Thr1351=) |
single nucleotide variant |
CIT-related condition [RCV003975521]|not provided [RCV000880880] |
Chr12:119718360 [GRCh38]
Chr12:120156165 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.6189C>G (p.Val2063=) |
single nucleotide variant |
not provided [RCV000906169] |
Chr12:119688253 [GRCh38]
Chr12:120126058 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.2707-21CT[6] |
microsatellite |
not provided [RCV000948906] |
Chr12:119752255..119752256 [GRCh38]
Chr12:120190060..120190061 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3177C>A (p.Thr1059=) |
single nucleotide variant |
not provided [RCV000965914] |
Chr12:119734337 [GRCh38]
Chr12:120172142 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.2256A>G (p.Leu752=) |
single nucleotide variant |
not provided [RCV000923768] |
Chr12:119767135 [GRCh38]
Chr12:120204939 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5112G>A (p.Val1704=) |
single nucleotide variant |
not provided [RCV000902198] |
Chr12:119708278 [GRCh38]
Chr12:120146083 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5832C>T (p.Leu1944=) |
single nucleotide variant |
not provided [RCV000927303] |
Chr12:119697709 [GRCh38]
Chr12:120135514 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4088G>A (p.Arg1363Gln) |
single nucleotide variant |
CIT-related condition [RCV003903009]|not provided [RCV000922446] |
Chr12:119718325 [GRCh38]
Chr12:120156130 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.4115T>C (p.Met1372Thr) |
single nucleotide variant |
CIT-related condition [RCV003923063]|not provided [RCV000905423]|not specified [RCV001818783] |
Chr12:119718298 [GRCh38]
Chr12:120156103 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.3491A>G (p.Asn1164Ser) |
single nucleotide variant |
CIT-related condition [RCV003938159]|Microcephaly 17, primary, autosomal recessive [RCV000787946]|not provided [RCV000903019] |
Chr12:119728602 [GRCh38]
Chr12:120166407 [GRCh37]
Chr12:12q24.23 |
likely benign|uncertain significance |
| NM_001206999.2(CIT):c.3429C>T (p.Leu1143=) |
single nucleotide variant |
not provided [RCV000882029] |
Chr12:119730552 [GRCh38]
Chr12:120168357 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.1029C>T (p.Cys343=) |
single nucleotide variant |
not provided [RCV000973962] |
Chr12:119822902 [GRCh38]
Chr12:120260706 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5167A>G (p.Ile1723Val) |
single nucleotide variant |
not provided [RCV000963973] |
Chr12:119708223 [GRCh38]
Chr12:120146028 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.216C>T (p.His72=) |
single nucleotide variant |
not provided [RCV000965916] |
Chr12:119869082 [GRCh38]
Chr12:120306886 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5460C>T (p.Ala1820=) |
single nucleotide variant |
CIT-related condition [RCV003960398]|not provided [RCV000921497] |
Chr12:119701706 [GRCh38]
Chr12:120139511 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.343A>C (p.Arg115=) |
single nucleotide variant |
not provided [RCV000922716] |
Chr12:119857594 [GRCh38]
Chr12:120295398 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.243C>T (p.Ser81=) |
single nucleotide variant |
CIT-related condition [RCV003975535]|not provided [RCV000881528] |
Chr12:119857694 [GRCh38]
Chr12:120295498 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.66C>T (p.Ser22=) |
single nucleotide variant |
not provided [RCV000977796] |
Chr12:119876103 [GRCh38]
Chr12:120313907 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5868G>A (p.Pro1956=) |
single nucleotide variant |
CIT-related condition [RCV003970818]|not provided [RCV000960483]|not specified [RCV001819026] |
Chr12:119697673 [GRCh38]
Chr12:120135478 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.652G>A (p.Val218Met) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV000787945] |
Chr12:119834093 [GRCh38]
Chr12:120271897 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.6156C>T (p.Ala2052=) |
single nucleotide variant |
not provided [RCV000915433] |
Chr12:119690181 [GRCh38]
Chr12:120127986 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5047C>A (p.Leu1683Met) |
single nucleotide variant |
Marfanoid habitus and intellectual disability [RCV000850446] |
Chr12:119710275 [GRCh38]
Chr12:120148080 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2905-8C>T |
single nucleotide variant |
not provided [RCV001091854] |
Chr12:119742472 [GRCh38]
Chr12:120180277 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5383G>A (p.Glu1795Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003240931] |
Chr12:119701880 [GRCh38]
Chr12:120139685 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3893T>G (p.Leu1298Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003291542] |
Chr12:119718809 [GRCh38]
Chr12:120156614 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3592-191T>A |
single nucleotide variant |
not provided [RCV001564271] |
Chr12:119721640 [GRCh38]
Chr12:120159445 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5072-41C>T |
single nucleotide variant |
not provided [RCV001571814] |
Chr12:119708359 [GRCh38]
Chr12:120146164 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1296-53A>T |
single nucleotide variant |
not provided [RCV001550165] |
Chr12:119785118 [GRCh38]
Chr12:120222922 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3430G>A (p.Ala1144Thr) |
single nucleotide variant |
not provided [RCV001575440] |
Chr12:119730551 [GRCh38]
Chr12:120168356 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2304+195del |
deletion |
not provided [RCV001553073] |
Chr12:119766892 [GRCh38]
Chr12:120204696 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5305-163dup |
duplication |
not provided [RCV001688381] |
Chr12:119702108..119702109 [GRCh38]
Chr12:120139913..120139914 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4917G>A (p.Thr1639=) |
single nucleotide variant |
not provided [RCV001638932] |
Chr12:119710558 [GRCh38]
Chr12:120148363 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5543-49C>G |
single nucleotide variant |
not provided [RCV001598012] |
Chr12:119700874 [GRCh38]
Chr12:120138679 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4854+36dup |
duplication |
not provided [RCV001639122] |
Chr12:119712141..119712142 [GRCh38]
Chr12:120149946..120149947 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5543-223T>C |
single nucleotide variant |
not provided [RCV001707218] |
Chr12:119701048 [GRCh38]
Chr12:120138853 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.415-113dup |
duplication |
not provided [RCV001639290] |
Chr12:119850375..119850376 [GRCh38]
Chr12:120288179..120288180 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2304+198dup |
duplication |
not provided [RCV001569575] |
Chr12:119766876..119766877 [GRCh38]
Chr12:120204680..120204681 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.-13-319G>A |
single nucleotide variant |
not provided [RCV001639760] |
Chr12:119876500 [GRCh38]
Chr12:120314304 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3733-151C>T |
single nucleotide variant |
not provided [RCV001695885] |
Chr12:119720736 [GRCh38]
Chr12:120158541 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.958-104dup |
duplication |
not provided [RCV001581268] |
Chr12:119823068..119823069 [GRCh38]
Chr12:120260872..120260873 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.754-164A>G |
single nucleotide variant |
not provided [RCV001571464] |
Chr12:119825532 [GRCh38]
Chr12:120263336 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5542+323C>G |
single nucleotide variant |
not provided [RCV001567752] |
Chr12:119701301 [GRCh38]
Chr12:120139106 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3372C>T (p.Ile1124=) |
single nucleotide variant |
CIT-related condition [RCV003956243]|not provided [RCV001551923] |
Chr12:119730609 [GRCh38]
Chr12:120168414 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5999G>A (p.Arg2000His) |
single nucleotide variant |
Inborn genetic diseases [RCV002538544]|not provided [RCV001665327] |
Chr12:119690338 [GRCh38]
Chr12:120128143 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3156+59G>T |
single nucleotide variant |
not provided [RCV001670518] |
Chr12:119735101 [GRCh38]
Chr12:120172906 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.20G>A (p.Gly7Glu) |
single nucleotide variant |
not provided [RCV001694545] |
Chr12:119876149 [GRCh38]
Chr12:120313953 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3733-139C>A |
single nucleotide variant |
not provided [RCV001673328] |
Chr12:119720724 [GRCh38]
Chr12:120158529 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4855-56T>C |
single nucleotide variant |
not provided [RCV001654959] |
Chr12:119710676 [GRCh38]
Chr12:120148481 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.6187-24C>T |
single nucleotide variant |
not provided [RCV001588117] |
Chr12:119688279 [GRCh38]
Chr12:120126084 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4392C>T (p.Thr1464=) |
single nucleotide variant |
not provided [RCV000929652] |
Chr12:119713563 [GRCh38]
Chr12:120151368 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5212-6T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002542275]|not provided [RCV000933507] |
Chr12:119704461 [GRCh38]
Chr12:120142266 [GRCh37]
Chr12:12q24.23 |
likely benign|uncertain significance |
| NM_001206999.2(CIT):c.1285G>A (p.Gly429Ser) |
single nucleotide variant |
not provided [RCV000905005] |
Chr12:119803216 [GRCh38]
Chr12:120241020 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.26G>A (p.Arg9Gln) |
single nucleotide variant |
CIT-related condition [RCV003940588]|not provided [RCV000887935] |
Chr12:119876143 [GRCh38]
Chr12:120313947 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.1296-5C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002537581]|not provided [RCV000905117]|not specified [RCV001818780] |
Chr12:119785070 [GRCh38]
Chr12:120222874 [GRCh37]
Chr12:12q24.23 |
benign|likely benign|uncertain significance |
| NM_001206999.2(CIT):c.5072-6G>T |
single nucleotide variant |
not provided [RCV000910677]|not specified [RCV001818827] |
Chr12:119708324 [GRCh38]
Chr12:120146129 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2847G>A (p.Ala949=) |
single nucleotide variant |
CIT-related condition [RCV003978009]|not provided [RCV000916242] |
Chr12:119752107 [GRCh38]
Chr12:120189912 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.5316C>A (p.Thr1772=) |
single nucleotide variant |
not provided [RCV000923550] |
Chr12:119701947 [GRCh38]
Chr12:120139752 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5505C>T (p.Ser1835=) |
single nucleotide variant |
not provided [RCV000917688] |
Chr12:119701661 [GRCh38]
Chr12:120139466 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5623+9G>A |
single nucleotide variant |
not provided [RCV000954737]|not specified [RCV001818994] |
Chr12:119700736 [GRCh38]
Chr12:120138541 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.1876A>G (p.Lys626Glu) |
single nucleotide variant |
CIT-related condition [RCV003967962]|not provided [RCV000879664] |
Chr12:119776369 [GRCh38]
Chr12:120214173 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.2898A>G (p.Ala966=) |
single nucleotide variant |
not provided [RCV000923780] |
Chr12:119752056 [GRCh38]
Chr12:120189861 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.840C>T (p.Tyr280=) |
single nucleotide variant |
not provided [RCV000910221] |
Chr12:119825282 [GRCh38]
Chr12:120263086 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.232C>T (p.Arg78Trp) |
single nucleotide variant |
CIT-related condition [RCV003950703]|not provided [RCV000909436] |
Chr12:119869066 [GRCh38]
Chr12:120306870 [GRCh37]
Chr12:12q24.23 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001206999.2(CIT):c.4083C>T (p.Ile1361=) |
single nucleotide variant |
CIT-related condition [RCV003928604]|not provided [RCV000976058] |
Chr12:119718330 [GRCh38]
Chr12:120156135 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5506G>A (p.Ala1836Thr) |
single nucleotide variant |
CIT-related condition [RCV003962916]|Inborn genetic diseases [RCV003243385]|not provided [RCV000974274]|not specified [RCV001819142] |
Chr12:119701660 [GRCh38]
Chr12:120139465 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4677C>T (p.Ala1559=) |
single nucleotide variant |
not provided [RCV000955451] |
Chr12:119712598 [GRCh38]
Chr12:120150403 [GRCh37]
Chr12:12q24.23 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001206999.2(CIT):c.4056G>A (p.Ala1352=) |
single nucleotide variant |
not provided [RCV000955452] |
Chr12:119718357 [GRCh38]
Chr12:120156162 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2118A>G (p.Arg706=) |
single nucleotide variant |
not provided [RCV000890240] |
Chr12:119770875 [GRCh38]
Chr12:120208679 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.5274C>T (p.Asn1758=) |
single nucleotide variant |
CIT-related condition [RCV003913159]|not provided [RCV000933678] |
Chr12:119704393 [GRCh38]
Chr12:120142198 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.239-9del |
deletion |
CIT-related condition [RCV003968129]|not provided [RCV000891490] |
Chr12:119857707 [GRCh38]
Chr12:120295511 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5568C>T (p.Tyr1856=) |
single nucleotide variant |
not provided [RCV000889365] |
Chr12:119700800 [GRCh38]
Chr12:120138605 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.547C>T (p.Leu183=) |
single nucleotide variant |
not provided [RCV000913904] |
Chr12:119834198 [GRCh38]
Chr12:120272002 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2820G>A (p.Ala940=) |
single nucleotide variant |
CIT-related condition [RCV003970377]|not provided [RCV000912631] |
Chr12:119752134 [GRCh38]
Chr12:120189939 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1706A>C (p.Asn569Thr) |
single nucleotide variant |
not provided [RCV000912143]|not specified [RCV001818838] |
Chr12:119776802 [GRCh38]
Chr12:120214606 [GRCh37]
Chr12:12q24.23 |
likely benign|uncertain significance |
| NM_001206999.2(CIT):c.1875G>A (p.Ala625=) |
single nucleotide variant |
not provided [RCV000935374] |
Chr12:119776370 [GRCh38]
Chr12:120214174 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.96+228C>T |
single nucleotide variant |
not provided [RCV001561709] |
Chr12:119875845 [GRCh38]
Chr12:120313649 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.958-264T>C |
single nucleotide variant |
not provided [RCV001540588] |
Chr12:119823237 [GRCh38]
Chr12:120261041 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4580-62T>C |
single nucleotide variant |
not provided [RCV001556866] |
Chr12:119712757 [GRCh38]
Chr12:120150562 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2208+254_2208+255del |
deletion |
not provided [RCV001574628] |
Chr12:119770530..119770531 [GRCh38]
Chr12:120208334..120208335 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4579+30T>C |
single nucleotide variant |
not provided [RCV001577615] |
Chr12:119713173 [GRCh38]
Chr12:120150978 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.-13-184C>T |
single nucleotide variant |
not provided [RCV001574780] |
Chr12:119876365 [GRCh38]
Chr12:120314169 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.238+59C>T |
single nucleotide variant |
not provided [RCV001557753] |
Chr12:119869001 [GRCh38]
Chr12:120306805 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.6186+221G>A |
single nucleotide variant |
not provided [RCV001567924] |
Chr12:119689930 [GRCh38]
Chr12:120127735 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3350+40C>T |
single nucleotide variant |
not provided [RCV001619665] |
Chr12:119734124 [GRCh38]
Chr12:120171929 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.239-164C>T |
single nucleotide variant |
not provided [RCV001558531] |
Chr12:119857862 [GRCh38]
Chr12:120295666 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2209-109A>C |
single nucleotide variant |
not provided [RCV001621718] |
Chr12:119767291 [GRCh38]
Chr12:120205095 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3487-86C>T |
single nucleotide variant |
not provided [RCV001595764] |
Chr12:119728692 [GRCh38]
Chr12:120166497 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4685-56dup |
duplication |
not provided [RCV001559794] |
Chr12:119712400..119712401 [GRCh38]
Chr12:120150205..120150206 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4686T>C (p.Asp1562=) |
single nucleotide variant |
CIT-related condition [RCV003931180]|not provided [RCV001553307] |
Chr12:119712346 [GRCh38]
Chr12:120150151 [GRCh37]
Chr12:12q24.23 |
likely benign|uncertain significance |
| NM_001206999.2(CIT):c.1942-192T>C |
single nucleotide variant |
not provided [RCV001560163] |
Chr12:119773102 [GRCh38]
Chr12:120210906 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.415-113_415-112dup |
duplication |
not provided [RCV001682250] |
Chr12:119850375..119850376 [GRCh38]
Chr12:120288179..120288180 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4169-67G>T |
single nucleotide variant |
not provided [RCV001550045] |
Chr12:119714401 [GRCh38]
Chr12:120152206 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3487-147C>T |
single nucleotide variant |
not provided [RCV001560588] |
Chr12:119728753 [GRCh38]
Chr12:120166558 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2706+206dup |
duplication |
not provided [RCV001550492] |
Chr12:119757163..119757164 [GRCh38]
Chr12:120194967..120194968 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5623+25T>C |
single nucleotide variant |
not provided [RCV001561204] |
Chr12:119700720 [GRCh38]
Chr12:120138525 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5733G>A (p.Pro1911=) |
single nucleotide variant |
not provided [RCV001561408] |
Chr12:119697808 [GRCh38]
Chr12:120135613 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4307-128C>T |
single nucleotide variant |
not provided [RCV001556332] |
Chr12:119713776 [GRCh38]
Chr12:120151581 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1112-52C>T |
single nucleotide variant |
not provided [RCV001556463] |
Chr12:119803441 [GRCh38]
Chr12:120241245 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.358G>A (p.Gly120Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003242745] |
Chr12:119857579 [GRCh38]
Chr12:120295383 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4168+10A>G |
single nucleotide variant |
not provided [RCV003106656] |
Chr12:119718235 [GRCh38]
Chr12:120156040 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4933C>A (p.Gln1645Lys) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV002471995] |
Chr12:119710542 [GRCh38]
Chr12:120148347 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2087G>A (p.Arg696His) |
single nucleotide variant |
Intellectual disability [RCV001263396] |
Chr12:119770906 [GRCh38]
Chr12:120208710 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3156+69C>T |
single nucleotide variant |
not provided [RCV001716701] |
Chr12:119735091 [GRCh38]
Chr12:120172896 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2083-66C>T |
single nucleotide variant |
not provided [RCV001639000] |
Chr12:119770976 [GRCh38]
Chr12:120208780 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2706+93G>C |
single nucleotide variant |
not provided [RCV001687602] |
Chr12:119757278 [GRCh38]
Chr12:120195082 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3486+192G>T |
single nucleotide variant |
not provided [RCV001592282] |
Chr12:119730303 [GRCh38]
Chr12:120168108 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1545+260C>T |
single nucleotide variant |
not provided [RCV001659663] |
Chr12:119783648 [GRCh38]
Chr12:120221452 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.1546-148G>A |
single nucleotide variant |
not provided [RCV001654974] |
Chr12:119782785 [GRCh38]
Chr12:120220589 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.1942-105del |
deletion |
not provided [RCV001619578] |
Chr12:119773015 [GRCh38]
Chr12:120210819 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2421+312del |
deletion |
not provided [RCV001655347] |
Chr12:119760627 [GRCh38]
Chr12:120198431 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5169T>A (p.Ile1723=) |
single nucleotide variant |
not provided [RCV001656229] |
Chr12:119708221 [GRCh38]
Chr12:120146026 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2707-21CT[8] |
microsatellite |
not provided [RCV001620478] |
Chr12:119752254..119752255 [GRCh38]
Chr12:120190059..120190060 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4854+134C>G |
single nucleotide variant |
not provided [RCV001710792] |
Chr12:119712044 [GRCh38]
Chr12:120149849 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4935+41A>G |
single nucleotide variant |
not provided [RCV001545756] |
Chr12:119710499 [GRCh38]
Chr12:120148304 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1942-257G>A |
single nucleotide variant |
not provided [RCV001590892] |
Chr12:119773167 [GRCh38]
Chr12:120210971 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5208C>G (p.Gly1736=) |
single nucleotide variant |
not provided [RCV001674017] |
Chr12:119708182 [GRCh38]
Chr12:120145987 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5072-169A>T |
single nucleotide variant |
not provided [RCV001598511] |
Chr12:119708487 [GRCh38]
Chr12:120146292 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5367A>C (p.Gly1789=) |
single nucleotide variant |
not provided [RCV001598922] |
Chr12:119701896 [GRCh38]
Chr12:120139701 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4854+241T>C |
single nucleotide variant |
not provided [RCV001596553] |
Chr12:119711937 [GRCh38]
Chr12:120149742 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2531+182G>C |
single nucleotide variant |
not provided [RCV001716607] |
Chr12:119758409 [GRCh38]
Chr12:120196213 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5623+244C>T |
single nucleotide variant |
not provided [RCV001654901] |
Chr12:119700501 [GRCh38]
Chr12:120138306 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.690C>T (p.Asp230=) |
single nucleotide variant |
not provided [RCV001615776] |
Chr12:119832834 [GRCh38]
Chr12:120270638 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5211+130del |
deletion |
not provided [RCV001647872] |
Chr12:119708049 [GRCh38]
Chr12:120145854 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4169-261G>A |
single nucleotide variant |
not provided [RCV001707959] |
Chr12:119714595 [GRCh38]
Chr12:120152400 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2208+255del |
deletion |
not provided [RCV001670085] |
Chr12:119770530 [GRCh38]
Chr12:120208334 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.659+279A>G |
single nucleotide variant |
not provided [RCV001710431] |
Chr12:119833807 [GRCh38]
Chr12:120271611 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.1546-213dup |
duplication |
not provided [RCV001679929] |
Chr12:119782847..119782848 [GRCh38]
Chr12:120220651..120220652 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.504T>A (p.Asn168Lys) |
single nucleotide variant |
not provided [RCV001588428] |
Chr12:119850186 [GRCh38]
Chr12:120287990 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.414+37G>A |
single nucleotide variant |
not provided [RCV001585553] |
Chr12:119857486 [GRCh38]
Chr12:120295290 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5702+64C>A |
single nucleotide variant |
not provided [RCV001708435] |
Chr12:119697912 [GRCh38]
Chr12:120135717 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5624-23G>A |
single nucleotide variant |
not provided [RCV001583025] |
Chr12:119698077 [GRCh38]
Chr12:120135882 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5882+134C>T |
single nucleotide variant |
not provided [RCV001710481] |
Chr12:119697525 [GRCh38]
Chr12:120135330 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3192G>T (p.Leu1064=) |
single nucleotide variant |
not provided [RCV001586653] |
Chr12:119734322 [GRCh38]
Chr12:120172127 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2707-21CT[10] |
microsatellite |
not provided [RCV001585488] |
Chr12:119752254..119752255 [GRCh38]
Chr12:120190059..120190060 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.414+102C>T |
single nucleotide variant |
not provided [RCV001648332] |
Chr12:119857421 [GRCh38]
Chr12:120295225 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4685-44G>A |
single nucleotide variant |
not provided [RCV001666080] |
Chr12:119712391 [GRCh38]
Chr12:120150196 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.958-127C>T |
single nucleotide variant |
not provided [RCV001589975] |
Chr12:119823100 [GRCh38]
Chr12:120260904 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.239-138A>G |
single nucleotide variant |
not provided [RCV001679031] |
Chr12:119857836 [GRCh38]
Chr12:120295640 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5413+22G>A |
single nucleotide variant |
not provided [RCV001565189] |
Chr12:119701828 [GRCh38]
Chr12:120139633 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1666-289A>G |
single nucleotide variant |
not provided [RCV001709989] |
Chr12:119777131 [GRCh38]
Chr12:120214935 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.957+274G>A |
single nucleotide variant |
not provided [RCV001648685] |
Chr12:119824891 [GRCh38]
Chr12:120262695 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.6187-20CCT[3] |
microsatellite |
not provided [RCV001667645] |
Chr12:119688269..119688270 [GRCh38]
Chr12:120126074..120126075 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2532-273G>A |
single nucleotide variant |
not provided [RCV001693818] |
Chr12:119757818 [GRCh38]
Chr12:120195622 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.753+47A>G |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001579022]|not provided [RCV001696241] |
Chr12:119832724 [GRCh38]
Chr12:120270528 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.1070A>G (p.His357Arg) |
single nucleotide variant |
not provided [RCV001091855] |
Chr12:119822861 [GRCh38]
Chr12:120260665 [GRCh37]
Chr12:12q24.23 |
likely pathogenic |
| NM_001206999.2(CIT):c.658C>T (p.Arg220Ter) |
single nucleotide variant |
not provided [RCV001091856] |
Chr12:119834087 [GRCh38]
Chr12:120271891 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.2082+304T>G |
single nucleotide variant |
not provided [RCV001662844] |
Chr12:119772466 [GRCh38]
Chr12:120210270 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.644T>C (p.Met215Thr) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001334876] |
Chr12:119834101 [GRCh38]
Chr12:120271905 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1605A>G (p.Ala535=) |
single nucleotide variant |
not provided [RCV001540096] |
Chr12:119782578 [GRCh38]
Chr12:120220382 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1942-121dup |
duplication |
not provided [RCV001642007] |
Chr12:119773014..119773015 [GRCh38]
Chr12:120210818..120210819 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.1049A>G (p.Lys350Arg) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001334874] |
Chr12:119822882 [GRCh38]
Chr12:120260686 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2638G>T (p.Glu880Ter) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001334875] |
Chr12:119757439 [GRCh38]
Chr12:120195243 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.659+100A>T |
single nucleotide variant |
not provided [RCV001539712] |
Chr12:119833986 [GRCh38]
Chr12:120271790 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4617del (p.Asp1541fs) |
deletion |
Microcephaly 17, primary, autosomal recessive [RCV001375664] |
Chr12:119712658 [GRCh38]
Chr12:120150463 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.1122dup (p.Phe375fs) |
duplication |
not provided [RCV000431888] |
Chr12:119803378..119803379 [GRCh38]
Chr12:120241182..120241183 [GRCh37]
Chr12:12q24.23 |
likely pathogenic |
| NM_001206999.2(CIT):c.4012C>T (p.Arg1338Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV000622356]|not provided [RCV002532831] |
Chr12:119718401 [GRCh38]
Chr12:120156206 [GRCh37]
Chr12:12q24.23 |
likely benign|uncertain significance |
| NM_001206999.2(CIT):c.5623+251A>C |
single nucleotide variant |
not provided [RCV001544566] |
Chr12:119700494 [GRCh38]
Chr12:120138299 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1111+83A>G |
single nucleotide variant |
not provided [RCV001585536] |
Chr12:119822737 [GRCh38]
Chr12:120260541 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.804G>A (p.Val268=) |
single nucleotide variant |
not provided [RCV000919458] |
Chr12:119825318 [GRCh38]
Chr12:120263122 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4488-53C>T |
single nucleotide variant |
not provided [RCV001546629] |
Chr12:119713347 [GRCh38]
Chr12:120151152 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3324A>G (p.Arg1108=) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001579018]|not provided [RCV001717834] |
Chr12:119734190 [GRCh38]
Chr12:120171995 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2880T>C (p.Ala960=) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001579020]|not provided [RCV001655913] |
Chr12:119752074 [GRCh38]
Chr12:120189879 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.1623T>C (p.Asp541=) |
single nucleotide variant |
not provided [RCV000902435] |
Chr12:119782560 [GRCh38]
Chr12:120220364 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2707-7G>C |
single nucleotide variant |
not provided [RCV000950448] |
Chr12:119752254 [GRCh38]
Chr12:120190059 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2082+10G>C |
single nucleotide variant |
CIT-related condition [RCV003903027]|not provided [RCV000923371] |
Chr12:119772760 [GRCh38]
Chr12:120210564 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2763A>G (p.Leu921=) |
single nucleotide variant |
not provided [RCV000900101] |
Chr12:119752191 [GRCh38]
Chr12:120189996 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5955G>T (p.Pro1985=) |
single nucleotide variant |
not provided [RCV000968260]|not specified [RCV001819080] |
Chr12:119690382 [GRCh38]
Chr12:120128187 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2707-6TC[4] |
microsatellite |
not provided [RCV000968261] |
Chr12:119752249..119752250 [GRCh38]
Chr12:120190054..120190055 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.1888-4A>G |
single nucleotide variant |
not provided [RCV000895664] |
Chr12:119775843 [GRCh38]
Chr12:120213647 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5414-4A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002545959]|not provided [RCV000943155] |
Chr12:119701756 [GRCh38]
Chr12:120139561 [GRCh37]
Chr12:12q24.23 |
likely benign|uncertain significance |
| NM_001206999.2(CIT):c.2958+7A>G |
single nucleotide variant |
not provided [RCV000939619] |
Chr12:119742404 [GRCh38]
Chr12:120180209 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4068C>T (p.Ile1356=) |
single nucleotide variant |
not provided [RCV000895171]|not specified [RCV001818702] |
Chr12:119718345 [GRCh38]
Chr12:120156150 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.3360C>T (p.Ala1120=) |
single nucleotide variant |
not provided [RCV000887755] |
Chr12:119730621 [GRCh38]
Chr12:120168426 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3645G>A (p.Leu1215=) |
single nucleotide variant |
not provided [RCV000892952] |
Chr12:119721396 [GRCh38]
Chr12:120159201 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4354A>C (p.Thr1452Pro) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV000984925] |
Chr12:119713601 [GRCh38]
Chr12:120151406 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2187G>A (p.Gln729=) |
single nucleotide variant |
not provided [RCV000962476] |
Chr12:119770806 [GRCh38]
Chr12:120208610 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3732+249C>T |
single nucleotide variant |
not provided [RCV001546879] |
Chr12:119721060 [GRCh38]
Chr12:120158865 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5624-261G>A |
single nucleotide variant |
not provided [RCV001568425] |
Chr12:119698315 [GRCh38]
Chr12:120136120 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4488-72C>G |
single nucleotide variant |
not provided [RCV001679521] |
Chr12:119713366 [GRCh38]
Chr12:120151171 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.923C>G (p.Ser308Cys) |
single nucleotide variant |
not provided [RCV001534648] |
Chr12:119825199 [GRCh38]
Chr12:120263003 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2905-181G>A |
single nucleotide variant |
not provided [RCV001561504] |
Chr12:119742645 [GRCh38]
Chr12:120180450 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2082+237C>T |
single nucleotide variant |
not provided [RCV001640879] |
Chr12:119772533 [GRCh38]
Chr12:120210337 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4783C>T (p.Arg1595Cys) |
single nucleotide variant |
not provided [RCV002284729] |
Chr12:119712249 [GRCh38]
Chr12:120150054 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3591+342T>C |
single nucleotide variant |
not provided [RCV001593825] |
Chr12:119728160 [GRCh38]
Chr12:120165965 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3840+80G>A |
single nucleotide variant |
not provided [RCV001656014] |
Chr12:119720398 [GRCh38]
Chr12:120158203 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.415-114C>T |
single nucleotide variant |
not provided [RCV001656452] |
Chr12:119850389 [GRCh38]
Chr12:120288193 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.6051C>T (p.Pro2017=) |
single nucleotide variant |
not provided [RCV000907715] |
Chr12:119690286 [GRCh38]
Chr12:120128091 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.6060A>G (p.Arg2020=) |
single nucleotide variant |
not provided [RCV000885362] |
Chr12:119690277 [GRCh38]
Chr12:120128082 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4566T>C (p.Asn1522=) |
single nucleotide variant |
not provided [RCV000927905] |
Chr12:119713216 [GRCh38]
Chr12:120151021 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2508C>T (p.Ser836=) |
single nucleotide variant |
not provided [RCV000976159] |
Chr12:119758614 [GRCh38]
Chr12:120196418 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4248A>G (p.Thr1416=) |
single nucleotide variant |
not provided [RCV000888969] |
Chr12:119714255 [GRCh38]
Chr12:120152060 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.651C>T (p.Tyr217=) |
single nucleotide variant |
not provided [RCV000890131] |
Chr12:119834094 [GRCh38]
Chr12:120271898 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.3487-39C>G |
single nucleotide variant |
not provided [RCV001621563] |
Chr12:119728645 [GRCh38]
Chr12:120166450 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.415-175_415-171del |
deletion |
not provided [RCV001677625] |
Chr12:119850446..119850450 [GRCh38]
Chr12:120288250..120288254 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3351-85C>T |
single nucleotide variant |
not provided [RCV001608621] |
Chr12:119730715 [GRCh38]
Chr12:120168520 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.754-187_754-186dup |
duplication |
not provided [RCV001593705] |
Chr12:119825540..119825541 [GRCh38]
Chr12:120263344..120263345 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4487+75G>A |
single nucleotide variant |
not provided [RCV001539739] |
Chr12:119713393 [GRCh38]
Chr12:120151198 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1888-193T>C |
single nucleotide variant |
not provided [RCV001669659] |
Chr12:119776032 [GRCh38]
Chr12:120213836 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5543-235C>T |
single nucleotide variant |
not provided [RCV001656629] |
Chr12:119701060 [GRCh38]
Chr12:120138865 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4003+96C>T |
single nucleotide variant |
not provided [RCV001644302] |
Chr12:119718603 [GRCh38]
Chr12:120156408 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.754-173del |
deletion |
not provided [RCV001693307] |
Chr12:119825541 [GRCh38]
Chr12:120263345 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4168+225T>C |
single nucleotide variant |
not provided [RCV001609201] |
Chr12:119718020 [GRCh38]
Chr12:120155825 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5542+184G>C |
single nucleotide variant |
not provided [RCV001694008] |
Chr12:119701440 [GRCh38]
Chr12:120139245 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2777A>C (p.Gln926Pro) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001007851] |
Chr12:119752177 [GRCh38]
Chr12:120189982 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3902A>G (p.Asn1301Ser) |
single nucleotide variant |
not provided [RCV001374007] |
Chr12:119718800 [GRCh38]
Chr12:120156605 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2448del (p.Arg817fs) |
deletion |
Microcephaly 17, primary, autosomal recessive [RCV001292899] |
Chr12:119758674 [GRCh38]
Chr12:120196478 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.4897C>T (p.Arg1633Cys) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001331823] |
Chr12:119710578 [GRCh38]
Chr12:120148383 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1031G>T (p.Gly344Val) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001334873] |
Chr12:119822900 [GRCh38]
Chr12:120260704 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.367T>G (p.Tyr123Asp) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001375663] |
Chr12:119857570 [GRCh38]
Chr12:120295374 [GRCh37]
Chr12:12q24.23 |
likely pathogenic |
| NM_001206999.2(CIT):c.1401+140C>T |
single nucleotide variant |
not provided [RCV001538552] |
Chr12:119784820 [GRCh38]
Chr12:120222624 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5305-151del |
deletion |
not provided [RCV001537157] |
Chr12:119702109 [GRCh38]
Chr12:120139914 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.6186+208A>G |
single nucleotide variant |
not provided [RCV001539740] |
Chr12:119689943 [GRCh38]
Chr12:120127748 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.143G>A (p.Arg48Gln) |
single nucleotide variant |
not provided [RCV001532720] |
Chr12:119869155 [GRCh38]
Chr12:120306959 [GRCh37]
Chr12:12q24.23 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001206999.2(CIT):c.2082+180A>G |
single nucleotide variant |
not provided [RCV001534856] |
Chr12:119772590 [GRCh38]
Chr12:120210394 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3487-307G>A |
single nucleotide variant |
not provided [RCV001565009] |
Chr12:119728913 [GRCh38]
Chr12:120166718 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5304+262C>T |
single nucleotide variant |
not provided [RCV001575767] |
Chr12:119704101 [GRCh38]
Chr12:120141906 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3733-130T>A |
single nucleotide variant |
not provided [RCV001679541] |
Chr12:119720715 [GRCh38]
Chr12:120158520 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.414+229T>G |
single nucleotide variant |
not provided [RCV001694855] |
Chr12:119857294 [GRCh38]
Chr12:120295098 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2532-6del |
deletion |
Microcephaly 17, primary, autosomal recessive [RCV002506723]|not provided [RCV001675480] |
Chr12:119757551 [GRCh38]
Chr12:120195355 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.2082+52G>T |
single nucleotide variant |
not provided [RCV001655008] |
Chr12:119772718 [GRCh38]
Chr12:120210522 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.414+266G>A |
single nucleotide variant |
not provided [RCV001655564] |
Chr12:119857257 [GRCh38]
Chr12:120295061 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2082+38C>T |
single nucleotide variant |
not provided [RCV001619540] |
Chr12:119772732 [GRCh38]
Chr12:120210536 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2905-223A>T |
single nucleotide variant |
not provided [RCV001586677] |
Chr12:119742687 [GRCh38]
Chr12:120180492 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1545+76G>A |
single nucleotide variant |
not provided [RCV001536866] |
Chr12:119783832 [GRCh38]
Chr12:120221636 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3350+40C>A |
single nucleotide variant |
not provided [RCV001587545] |
Chr12:119734124 [GRCh38]
Chr12:120171929 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.958-215G>A |
single nucleotide variant |
not provided [RCV001587604] |
Chr12:119823188 [GRCh38]
Chr12:120260992 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1665+40T>C |
single nucleotide variant |
not provided [RCV001649296] |
Chr12:119782478 [GRCh38]
Chr12:120220282 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.1665+276G>A |
single nucleotide variant |
not provided [RCV001686739] |
Chr12:119782242 [GRCh38]
Chr12:120220046 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.415-113_415-111dup |
duplication |
not provided [RCV001693666] |
Chr12:119850375..119850376 [GRCh38]
Chr12:120288179..120288180 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5072-178T>A |
single nucleotide variant |
not provided [RCV001670483] |
Chr12:119708496 [GRCh38]
Chr12:120146301 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.1545+170G>A |
single nucleotide variant |
not provided [RCV001614452] |
Chr12:119783738 [GRCh38]
Chr12:120221542 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3841-203G>A |
single nucleotide variant |
not provided [RCV001589956] |
Chr12:119719064 [GRCh38]
Chr12:120156869 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4169-301G>A |
single nucleotide variant |
not provided [RCV001592581] |
Chr12:119714635 [GRCh38]
Chr12:120152440 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.-13-96dup |
duplication |
not provided [RCV001565091] |
Chr12:119876275..119876276 [GRCh38]
Chr12:120314079..120314080 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4168+49G>A |
single nucleotide variant |
not provided [RCV001585541] |
Chr12:119718196 [GRCh38]
Chr12:120156001 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5212-105G>T |
single nucleotide variant |
not provided [RCV001675015] |
Chr12:119704560 [GRCh38]
Chr12:120142365 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2904+167T>C |
single nucleotide variant |
not provided [RCV001688071] |
Chr12:119751883 [GRCh38]
Chr12:120189688 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.415-113_415-110dup |
duplication |
not provided [RCV001592423] |
Chr12:119850375..119850376 [GRCh38]
Chr12:120288179..120288180 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5383G>C (p.Glu1795Gln) |
single nucleotide variant |
not provided [RCV001756238] |
Chr12:119701880 [GRCh38]
Chr12:120139685 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1308G>A (p.Ser436=) |
single nucleotide variant |
not provided [RCV003108885] |
Chr12:119785053 [GRCh38]
Chr12:120222857 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5238A>C (p.Ala1746=) |
single nucleotide variant |
not provided [RCV001779910] |
Chr12:119704429 [GRCh38]
Chr12:120142234 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.1022T>G (p.Leu341Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003252317] |
Chr12:119822909 [GRCh38]
Chr12:120260713 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4496A>G (p.Lys1499Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003276851] |
Chr12:119713286 [GRCh38]
Chr12:120151091 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3361G>A (p.Asp1121Asn) |
single nucleotide variant |
not provided [RCV001763974] |
Chr12:119730620 [GRCh38]
Chr12:120168425 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.6025C>T (p.Arg2009Cys) |
single nucleotide variant |
not provided [RCV001774089] |
Chr12:119690312 [GRCh38]
Chr12:120128117 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4580C>T (p.Ala1527Val) |
single nucleotide variant |
not provided [RCV001774270] |
Chr12:119712695 [GRCh38]
Chr12:120150500 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2072T>C (p.Val691Ala) |
single nucleotide variant |
not provided [RCV001786196] |
Chr12:119772780 [GRCh38]
Chr12:120210584 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 |
copy number gain |
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] |
Chr12:117461902..133841395 [GRCh37]
Chr12:12q24.22-24.33 |
likely pathogenic |
| NM_001206999.2(CIT):c.4666G>A (p.Ala1556Thr) |
single nucleotide variant |
not provided [RCV001767537] |
Chr12:119712609 [GRCh38]
Chr12:120150414 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.881A>G (p.Tyr294Cys) |
single nucleotide variant |
not provided [RCV001770683] |
Chr12:119825241 [GRCh38]
Chr12:120263045 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4168+5G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002541067]|not provided [RCV001776666] |
Chr12:119718240 [GRCh38]
Chr12:120156045 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.306T>C (p.Leu102=) |
single nucleotide variant |
not specified [RCV001820297] |
Chr12:119857631 [GRCh38]
Chr12:120295435 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1483G>T (p.Ala495Ser) |
single nucleotide variant |
not specified [RCV001817179] |
Chr12:119783970 [GRCh38]
Chr12:120221774 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.845T>C (p.Leu282Pro) |
single nucleotide variant |
not specified [RCV001817330] |
Chr12:119825277 [GRCh38]
Chr12:120263081 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2535G>A (p.Lys845=) |
single nucleotide variant |
not specified [RCV001819318] |
Chr12:119757542 [GRCh38]
Chr12:120195346 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.357C>T (p.Thr119=) |
single nucleotide variant |
not specified [RCV001819376] |
Chr12:119857580 [GRCh38]
Chr12:120295384 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3039C>G (p.Ser1013=) |
single nucleotide variant |
not provided [RCV002074310]|not specified [RCV001819477] |
Chr12:119735277 [GRCh38]
Chr12:120173082 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1121C>G (p.Pro374Arg) |
single nucleotide variant |
not specified [RCV001819609] |
Chr12:119803380 [GRCh38]
Chr12:120241184 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4807G>T (p.Val1603Phe) |
single nucleotide variant |
not specified [RCV001820284] |
Chr12:119712225 [GRCh38]
Chr12:120150030 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.957+1G>T |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV001808106] |
Chr12:119825164 [GRCh38]
Chr12:120262968 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382) |
copy number gain |
not specified [RCV002053027] |
Chr12:118486842..120995382 [GRCh37]
Chr12:12q24.23-24.31 |
likely pathogenic |
| NM_001206999.2(CIT):c.1755C>T (p.Tyr585=) |
single nucleotide variant |
not provided [RCV002211243] |
Chr12:119776753 [GRCh38]
Chr12:120214557 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.922T>G (p.Ser308Ala) |
single nucleotide variant |
CIT-related condition [RCV003933693]|not provided [RCV002211244] |
Chr12:119825200 [GRCh38]
Chr12:120263004 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.2707-6TC[3] |
microsatellite |
not provided [RCV002135300] |
Chr12:119752249..119752250 [GRCh38]
Chr12:120190054..120190055 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.148G>C (p.Gly50Arg) |
single nucleotide variant |
not provided [RCV003120472] |
Chr12:119869150 [GRCh38]
Chr12:120306954 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1296-2A>G |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV003233284] |
Chr12:119785067 [GRCh38]
Chr12:120222871 [GRCh37]
Chr12:12q24.23 |
not provided |
| NM_001206999.2(CIT):c.878C>T (p.Ala293Val) |
single nucleotide variant |
not provided [RCV003234272] |
Chr12:119825244 [GRCh38]
Chr12:120263048 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4997C>A (p.Thr1666Asn) |
single nucleotide variant |
not provided [RCV002279110] |
Chr12:119710325 [GRCh38]
Chr12:120148130 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4393G>A (p.Glu1465Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003096189]|not provided [RCV002275766] |
Chr12:119713562 [GRCh38]
Chr12:120151367 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.6192G>T (p.Trp2064Cys) |
single nucleotide variant |
not provided [RCV002287170] |
Chr12:119688250 [GRCh38]
Chr12:120126055 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.6137G>T (p.Gly2046Val) |
single nucleotide variant |
not provided [RCV002296904] |
Chr12:119690200 [GRCh38]
Chr12:120128005 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2228G>A (p.Arg743Gln) |
single nucleotide variant |
CIT-related condition [RCV003900991]|not provided [RCV003236078] |
Chr12:119767163 [GRCh38]
Chr12:120204967 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4397C>A (p.Ala1466Asp) |
single nucleotide variant |
CIT-related condition [RCV003900992]|not provided [RCV003236079] |
Chr12:119713558 [GRCh38]
Chr12:120151363 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.249C>G (p.Thr83=) |
single nucleotide variant |
not provided [RCV002262400] |
Chr12:119857688 [GRCh38]
Chr12:120295492 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5279A>C (p.Asn1760Thr) |
single nucleotide variant |
See cases [RCV003128534] |
Chr12:119704388 [GRCh38]
Chr12:120142193 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.731C>T (p.Ala244Val) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV002472064] |
Chr12:119832793 [GRCh38]
Chr12:120270597 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.250A>G (p.Ile84Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002571419]|not provided [RCV002467325] |
Chr12:119857687 [GRCh38]
Chr12:120295491 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2357A>G (p.Asn786Ser) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV003148308] |
Chr12:119761003 [GRCh38]
Chr12:120198807 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1873G>A (p.Ala625Thr) |
single nucleotide variant |
not provided [RCV003234273] |
Chr12:119776372 [GRCh38]
Chr12:120214176 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4160C>T (p.Thr1387Ile) |
single nucleotide variant |
not provided [RCV002304254] |
Chr12:119718253 [GRCh38]
Chr12:120156058 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1072C>G (p.Pro358Ala) |
single nucleotide variant |
not provided [RCV002861559] |
Chr12:119822859 [GRCh38]
Chr12:120260663 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1296-17G>A |
single nucleotide variant |
not provided [RCV002750087] |
Chr12:119785082 [GRCh38]
Chr12:120222886 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2706+12G>T |
single nucleotide variant |
not provided [RCV002730987] |
Chr12:119757359 [GRCh38]
Chr12:120195163 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.3486+18C>T |
single nucleotide variant |
not provided [RCV002750779] |
Chr12:119730477 [GRCh38]
Chr12:120168282 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1304T>C (p.Val435Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002753691] |
Chr12:119785057 [GRCh38]
Chr12:120222861 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4468G>A (p.Gly1490Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002729172] |
Chr12:119713487 [GRCh38]
Chr12:120151292 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3030C>G (p.Phe1010Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002905869] |
Chr12:119735286 [GRCh38]
Chr12:120173091 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.574C>G (p.Gln192Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002841234] |
Chr12:119834171 [GRCh38]
Chr12:120271975 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4286G>A (p.Arg1429His) |
single nucleotide variant |
Inborn genetic diseases [RCV002836911] |
Chr12:119714217 [GRCh38]
Chr12:120152022 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.6157G>A (p.Val2053Met) |
single nucleotide variant |
not provided [RCV002615228] |
Chr12:119690180 [GRCh38]
Chr12:120127985 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3532C>T (p.Arg1178Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV003031628]|not provided [RCV003014809] |
Chr12:119728561 [GRCh38]
Chr12:120166366 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.16T>C (p.Tyr6His) |
single nucleotide variant |
Inborn genetic diseases [RCV002818816] |
Chr12:119876153 [GRCh38]
Chr12:120313957 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4652G>T (p.Gly1551Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002689267] |
Chr12:119712623 [GRCh38]
Chr12:120150428 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.660-15C>A |
single nucleotide variant |
not provided [RCV002755839] |
Chr12:119832879 [GRCh38]
Chr12:120270683 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1184C>G (p.Ser395Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002860197] |
Chr12:119803317 [GRCh38]
Chr12:120241121 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2086C>T (p.Arg696Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003161839]|Microcephaly 17, primary, autosomal recessive [RCV003147822]|not provided [RCV003095739] |
Chr12:119770907 [GRCh38]
Chr12:120208711 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2707-6TC[5] |
microsatellite |
not provided [RCV002975299] |
Chr12:119752249..119752250 [GRCh38]
Chr12:120190054..120190055 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4914C>T (p.Cys1638=) |
single nucleotide variant |
not provided [RCV002770986] |
Chr12:119710561 [GRCh38]
Chr12:120148366 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.336G>C (p.Gln112His) |
single nucleotide variant |
Inborn genetic diseases [RCV002901354] |
Chr12:119857601 [GRCh38]
Chr12:120295405 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.685G>A (p.Val229Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002979313]|not provided [RCV002972346] |
Chr12:119832839 [GRCh38]
Chr12:120270643 [GRCh37]
Chr12:12q24.23 |
likely benign|uncertain significance |
| NM_001206999.2(CIT):c.1773G>A (p.Glu591=) |
single nucleotide variant |
not provided [RCV003032370] |
Chr12:119776735 [GRCh38]
Chr12:120214539 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4022C>T (p.Thr1341Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002591794]|not provided [RCV002615058] |
Chr12:119718391 [GRCh38]
Chr12:120156196 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1054G>A (p.Glu352Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002749785] |
Chr12:119822877 [GRCh38]
Chr12:120260681 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5807G>C (p.Arg1936Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002902428] |
Chr12:119697734 [GRCh38]
Chr12:120135539 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4783C>A (p.Arg1595Ser) |
single nucleotide variant |
not provided [RCV002750124] |
Chr12:119712249 [GRCh38]
Chr12:120150054 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1941+10A>G |
single nucleotide variant |
not provided [RCV002750248] |
Chr12:119775776 [GRCh38]
Chr12:120213580 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4043C>T (p.Thr1348Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003012600] |
Chr12:119718370 [GRCh38]
Chr12:120156175 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.784G>C (p.Asp262His) |
single nucleotide variant |
not provided [RCV002991735] |
Chr12:119825338 [GRCh38]
Chr12:120263142 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5294G>C (p.Cys1765Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002682615] |
Chr12:119704373 [GRCh38]
Chr12:120142178 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4740G>C (p.Gly1580=) |
single nucleotide variant |
not provided [RCV002903743] |
Chr12:119712292 [GRCh38]
Chr12:120150097 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2928C>T (p.Arg976=) |
single nucleotide variant |
not provided [RCV003015529] |
Chr12:119742441 [GRCh38]
Chr12:120180246 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3165G>C (p.Glu1055Asp) |
single nucleotide variant |
not provided [RCV002953522] |
Chr12:119734349 [GRCh38]
Chr12:120172154 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5515C>T (p.Arg1839Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002707763] |
Chr12:119701651 [GRCh38]
Chr12:120139456 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.4426G>C (p.Gly1476Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002799163] |
Chr12:119713529 [GRCh38]
Chr12:120151334 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2036G>C (p.Arg679Pro) |
single nucleotide variant |
not provided [RCV002800221] |
Chr12:119772816 [GRCh38]
Chr12:120210620 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5491G>A (p.Val1831Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002977515] |
Chr12:119701675 [GRCh38]
Chr12:120139480 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5987G>A (p.Ser1996Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002693831] |
Chr12:119690350 [GRCh38]
Chr12:120128155 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.382A>T (p.Met128Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002703725] |
Chr12:119857555 [GRCh38]
Chr12:120295359 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5256C>T (p.Val1752=) |
single nucleotide variant |
not provided [RCV002912462] |
Chr12:119704411 [GRCh38]
Chr12:120142216 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4718C>T (p.Pro1573Leu) |
single nucleotide variant |
not provided [RCV002999249] |
Chr12:119712314 [GRCh38]
Chr12:120150119 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.197C>T (p.Ala66Val) |
single nucleotide variant |
not provided [RCV003001809] |
Chr12:119869101 [GRCh38]
Chr12:120306905 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2945G>A (p.Arg982His) |
single nucleotide variant |
Inborn genetic diseases [RCV002693143] |
Chr12:119742424 [GRCh38]
Chr12:120180229 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5850T>G (p.Thr1950=) |
single nucleotide variant |
CIT-related condition [RCV003963622]|not provided [RCV003078607] |
Chr12:119697691 [GRCh38]
Chr12:120135496 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2707-21CT[5] |
microsatellite |
not provided [RCV002695226] |
Chr12:119752255..119752258 [GRCh38]
Chr12:120190060..120190063 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2819C>T (p.Ala940Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002869418] |
Chr12:119752135 [GRCh38]
Chr12:120189940 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1969G>A (p.Glu657Lys) |
single nucleotide variant |
not provided [RCV002926914] |
Chr12:119772883 [GRCh38]
Chr12:120210687 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1801C>T (p.Arg601Trp) |
single nucleotide variant |
not provided [RCV002820609] |
Chr12:119776707 [GRCh38]
Chr12:120214511 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5581C>T (p.Arg1861Cys) |
single nucleotide variant |
not provided [RCV002824189] |
Chr12:119700787 [GRCh38]
Chr12:120138592 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4246A>G (p.Thr1416Ala) |
single nucleotide variant |
not provided [RCV002913225] |
Chr12:119714257 [GRCh38]
Chr12:120152062 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3350+3G>A |
single nucleotide variant |
not provided [RCV002637791] |
Chr12:119734161 [GRCh38]
Chr12:120171966 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3883C>G (p.Gln1295Glu) |
single nucleotide variant |
not provided [RCV003054180] |
Chr12:119718819 [GRCh38]
Chr12:120156624 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4004-12del |
deletion |
not provided [RCV002760995] |
Chr12:119718421 [GRCh38]
Chr12:120156226 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3048C>T (p.Leu1016=) |
single nucleotide variant |
not provided [RCV003078013] |
Chr12:119735268 [GRCh38]
Chr12:120173073 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3340A>G (p.Lys1114Glu) |
single nucleotide variant |
not provided [RCV002510123] |
Chr12:119734174 [GRCh38]
Chr12:120171979 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.97-7T>C |
single nucleotide variant |
not provided [RCV002791524] |
Chr12:119869208 [GRCh38]
Chr12:120307012 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.520A>G (p.Met174Val) |
single nucleotide variant |
not provided [RCV002932806] |
Chr12:119834225 [GRCh38]
Chr12:120272029 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1556G>A (p.Arg519Gln) |
single nucleotide variant |
not provided [RCV002829519] |
Chr12:119782627 [GRCh38]
Chr12:120220431 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1356C>T (p.Leu452=) |
single nucleotide variant |
not provided [RCV003026093] |
Chr12:119785005 [GRCh38]
Chr12:120222809 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2721C>T (p.His907=) |
single nucleotide variant |
not provided [RCV002745896] |
Chr12:119752233 [GRCh38]
Chr12:120190038 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.96+15T>C |
single nucleotide variant |
not provided [RCV002741223] |
Chr12:119876058 [GRCh38]
Chr12:120313862 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4647C>T (p.Ala1549=) |
single nucleotide variant |
not provided [RCV002741860] |
Chr12:119712628 [GRCh38]
Chr12:120150433 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.958-18T>C |
single nucleotide variant |
not provided [RCV002740850] |
Chr12:119822991 [GRCh38]
Chr12:120260795 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.6170T>C (p.Leu2057Pro) |
single nucleotide variant |
not provided [RCV002872735] |
Chr12:119690167 [GRCh38]
Chr12:120127972 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.415-5C>T |
single nucleotide variant |
not provided [RCV003024246] |
Chr12:119850280 [GRCh38]
Chr12:120288084 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.729C>T (p.Ala243=) |
single nucleotide variant |
not provided [RCV002595762] |
Chr12:119832795 [GRCh38]
Chr12:120270599 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.38A>G (p.Asp13Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002713380] |
Chr12:119876131 [GRCh38]
Chr12:120313935 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.957+17A>T |
single nucleotide variant |
not provided [RCV002740678] |
Chr12:119825148 [GRCh38]
Chr12:120262952 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.6186G>A (p.Lys2062=) |
single nucleotide variant |
not provided [RCV002508459] |
Chr12:119690151 [GRCh38]
Chr12:120127956 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4684+10A>G |
single nucleotide variant |
not provided [RCV002875843] |
Chr12:119712581 [GRCh38]
Chr12:120150386 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1585T>A (p.Ser529Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002665770] |
Chr12:119782598 [GRCh38]
Chr12:120220402 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2208+19C>T |
single nucleotide variant |
not provided [RCV002740625] |
Chr12:119770766 [GRCh38]
Chr12:120208570 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4745C>A (p.Thr1582Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002652278] |
Chr12:119712287 [GRCh38]
Chr12:120150092 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2596G>A (p.Gly866Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002878114] |
Chr12:119757481 [GRCh38]
Chr12:120195285 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.25C>T (p.Arg9Trp) |
single nucleotide variant |
not provided [RCV002938893] |
Chr12:119876144 [GRCh38]
Chr12:120313948 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1151A>G (p.Asp384Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002792985] |
Chr12:119803350 [GRCh38]
Chr12:120241154 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.827G>A (p.Gly276Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002962099]|not provided [RCV002962098] |
Chr12:119825295 [GRCh38]
Chr12:120263099 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4451G>A (p.Ser1484Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002702654] |
Chr12:119713504 [GRCh38]
Chr12:120151309 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1811C>A (p.Thr604Lys) |
single nucleotide variant |
not provided [RCV003009969] |
Chr12:119776697 [GRCh38]
Chr12:120214501 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2701C>A (p.Arg901=) |
single nucleotide variant |
not provided [RCV003061983] |
Chr12:119757376 [GRCh38]
Chr12:120195180 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4745C>T (p.Thr1582Ile) |
single nucleotide variant |
not provided [RCV002922867] |
Chr12:119712287 [GRCh38]
Chr12:120150092 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1121C>A (p.Pro374His) |
single nucleotide variant |
Inborn genetic diseases [RCV002936911]|Microcephaly 17, primary, autosomal recessive [RCV003143558]|not provided [RCV003720701] |
Chr12:119803380 [GRCh38]
Chr12:120241184 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5883-19G>A |
single nucleotide variant |
not provided [RCV003028088] |
Chr12:119690473 [GRCh38]
Chr12:120128278 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5848A>G (p.Thr1950Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002900865] |
Chr12:119697693 [GRCh38]
Chr12:120135498 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2707-7_2707-6del |
deletion |
CIT-related condition [RCV003936459]|not provided [RCV002967073] |
Chr12:119752253..119752254 [GRCh38]
Chr12:120190058..120190059 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.2687T>G (p.Leu896Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002832726] |
Chr12:119757390 [GRCh38]
Chr12:120195194 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.6100C>T (p.Arg2034Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002879016] |
Chr12:119690237 [GRCh38]
Chr12:120128042 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4405C>T (p.Arg1469Cys) |
single nucleotide variant |
not provided [RCV002581725] |
Chr12:119713550 [GRCh38]
Chr12:120151355 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5035A>G (p.Ile1679Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002831061] |
Chr12:119710287 [GRCh38]
Chr12:120148092 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1125C>T (p.Phe375=) |
single nucleotide variant |
CIT-related condition [RCV003946269]|not provided [RCV002598543] |
Chr12:119803376 [GRCh38]
Chr12:120241180 [GRCh37]
Chr12:12q24.23 |
likely benign|uncertain significance |
| NM_001206999.2(CIT):c.278C>T (p.Ser93Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002680211] |
Chr12:119857659 [GRCh38]
Chr12:120295463 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3919C>G (p.Leu1307Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002723928] |
Chr12:119718783 [GRCh38]
Chr12:120156588 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3158C>T (p.Thr1053Met) |
single nucleotide variant |
not provided [RCV003051962] |
Chr12:119734356 [GRCh38]
Chr12:120172161 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4307-9C>T |
single nucleotide variant |
not provided [RCV003066161] |
Chr12:119713657 [GRCh38]
Chr12:120151462 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3336C>T (p.Thr1112=) |
single nucleotide variant |
not provided [RCV002605979] |
Chr12:119734178 [GRCh38]
Chr12:120171983 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.361G>T (p.Asp121Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003204783] |
Chr12:119857576 [GRCh38]
Chr12:120295380 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5446C>T (p.Pro1816Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003214465] |
Chr12:119701720 [GRCh38]
Chr12:120139525 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3094G>A (p.Glu1032Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003209818] |
Chr12:119735222 [GRCh38]
Chr12:120173027 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1100A>G (p.Asn367Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003216243] |
Chr12:119822831 [GRCh38]
Chr12:120260635 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4178G>A (p.Arg1393Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003190737] |
Chr12:119714325 [GRCh38]
Chr12:120152130 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1940A>G (p.Lys647Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003306992] |
Chr12:119775787 [GRCh38]
Chr12:120213591 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2266C>G (p.Leu756Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003265488] |
Chr12:119767125 [GRCh38]
Chr12:120204929 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4999C>T (p.His1667Tyr) |
single nucleotide variant |
not provided [RCV003325651] |
Chr12:119710323 [GRCh38]
Chr12:120148128 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5576G>A (p.Arg1859His) |
single nucleotide variant |
Inborn genetic diseases [RCV003371445] |
Chr12:119700792 [GRCh38]
Chr12:120138597 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5879G>A (p.Arg1960His) |
single nucleotide variant |
Inborn genetic diseases [RCV003384911] |
Chr12:119697662 [GRCh38]
Chr12:120135467 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.796C>T (p.Pro266Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003373600] |
Chr12:119825326 [GRCh38]
Chr12:120263130 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.976G>C (p.Asp326His) |
single nucleotide variant |
Inborn genetic diseases [RCV003370902] |
Chr12:119822955 [GRCh38]
Chr12:120260759 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4078G>A (p.Ala1360Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003384797] |
Chr12:119718335 [GRCh38]
Chr12:120156140 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1576A>T (p.Met526Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003354468] |
Chr12:119782607 [GRCh38]
Chr12:120220411 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.517-1G>C |
single nucleotide variant |
not provided [RCV003874573] |
Chr12:119834229 [GRCh38]
Chr12:120272033 [GRCh37]
Chr12:12q24.23 |
likely pathogenic |
| NM_001206999.2(CIT):c.4T>C (p.Leu2=) |
single nucleotide variant |
not provided [RCV003873483] |
Chr12:119876165 [GRCh38]
Chr12:120313969 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.*1341AGC[1] |
microsatellite |
not provided [RCV003392071] |
Chr12:119686886..119686888 [GRCh38]
Chr12:120124691..120124693 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5772G>A (p.Ala1924=) |
single nucleotide variant |
not provided [RCV003392072] |
Chr12:119697769 [GRCh38]
Chr12:120135574 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4764C>T (p.Pro1588=) |
single nucleotide variant |
not provided [RCV003392073] |
Chr12:119712268 [GRCh38]
Chr12:120150073 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2420C>T (p.Ala807Val) |
single nucleotide variant |
not provided [RCV003390315] |
Chr12:119760940 [GRCh38]
Chr12:120198744 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1245G>C (p.Pro415=) |
single nucleotide variant |
not provided [RCV003390316] |
Chr12:119803256 [GRCh38]
Chr12:120241060 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4111G>A (p.Ala1371Thr) |
single nucleotide variant |
not provided [RCV003392074] |
Chr12:119718302 [GRCh38]
Chr12:120156107 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3978C>T (p.Ile1326=) |
single nucleotide variant |
not provided [RCV003392075] |
Chr12:119718724 [GRCh38]
Chr12:120156529 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3157-37del |
deletion |
not provided [RCV003392076] |
Chr12:119734394 [GRCh38]
Chr12:120172199 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2983C>G (p.Leu995Val) |
single nucleotide variant |
not provided [RCV003392077] |
Chr12:119735333 [GRCh38]
Chr12:120173138 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2784C>T (p.Arg928=) |
single nucleotide variant |
not provided [RCV003392078] |
Chr12:119752170 [GRCh38]
Chr12:120189975 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1437G>A (p.Val479=) |
single nucleotide variant |
not provided [RCV003392079] |
Chr12:119784016 [GRCh38]
Chr12:120221820 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1968C>T (p.Thr656=) |
single nucleotide variant |
not provided [RCV003712717] |
Chr12:119772884 [GRCh38]
Chr12:120210688 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1220C>G (p.Ser407Ter) |
single nucleotide variant |
not provided [RCV003686961] |
Chr12:119803281 [GRCh38]
Chr12:120241085 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.4158A>G (p.Ser1386=) |
single nucleotide variant |
not provided [RCV003545575] |
Chr12:119718255 [GRCh38]
Chr12:120156060 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3270C>T (p.Ser1090=) |
single nucleotide variant |
not provided [RCV003695436] |
Chr12:119734244 [GRCh38]
Chr12:120172049 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2829G>A (p.Glu943=) |
single nucleotide variant |
not provided [RCV003666148] |
Chr12:119752125 [GRCh38]
Chr12:120189930 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2707-12_2707-11insTG |
insertion |
not provided [RCV003713570] |
Chr12:119752258..119752259 [GRCh38]
Chr12:120190063..120190064 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4530T>C (p.Ile1510=) |
single nucleotide variant |
not provided [RCV003664445] |
Chr12:119713252 [GRCh38]
Chr12:120151057 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4272C>T (p.Thr1424=) |
single nucleotide variant |
CIT-related condition [RCV003909002]|not provided [RCV003548410] |
Chr12:119714231 [GRCh38]
Chr12:120152036 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1926A>C (p.Gln642His) |
single nucleotide variant |
Inborn genetic diseases [RCV002552675]|not provided [RCV001395791] |
Chr12:119775801 [GRCh38]
Chr12:120213605 [GRCh37]
Chr12:12q24.23 |
likely benign|uncertain significance |
| NM_001206999.2(CIT):c.4935+19C>T |
single nucleotide variant |
not provided [RCV001538153] |
Chr12:119710521 [GRCh38]
Chr12:120148326 [GRCh37]
Chr12:12q24.23 |
benign|likely benign |
| NM_001206999.2(CIT):c.1959G>A (p.Thr653=) |
single nucleotide variant |
not provided [RCV001587145] |
Chr12:119772893 [GRCh38]
Chr12:120210697 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5072-229T>C |
single nucleotide variant |
not provided [RCV001680238] |
Chr12:119708547 [GRCh38]
Chr12:120146352 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.2531+99del |
deletion |
not provided [RCV001651720] |
Chr12:119758492 [GRCh38]
Chr12:120196296 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.94C>A (p.Gln32Lys) |
single nucleotide variant |
not provided [RCV001653080] |
Chr12:119876075 [GRCh38]
Chr12:120313879 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.23C>T (p.Ala8Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002538682]|not provided [RCV001726890] |
Chr12:119876146 [GRCh38]
Chr12:120313950 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4855-13C>T |
single nucleotide variant |
not provided [RCV001768500] |
Chr12:119710633 [GRCh38]
Chr12:120148438 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1214G>T (p.Ser405Ile) |
single nucleotide variant |
not provided [RCV001770670] |
Chr12:119803287 [GRCh38]
Chr12:120241091 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1106G>A (p.Arg369His) |
single nucleotide variant |
Inborn genetic diseases [RCV002544001]|not provided [RCV001765261] |
Chr12:119822825 [GRCh38]
Chr12:120260629 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1742G>A (p.Arg581Gln) |
single nucleotide variant |
not provided [RCV001773340] |
Chr12:119776766 [GRCh38]
Chr12:120214570 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2774T>A (p.Leu925Gln) |
single nucleotide variant |
not provided [RCV001765260] |
Chr12:119752180 [GRCh38]
Chr12:120189985 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2058C>T (p.Ile686=) |
single nucleotide variant |
not provided [RCV002262399] |
Chr12:119772794 [GRCh38]
Chr12:120210598 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4385A>T (p.His1462Leu) |
single nucleotide variant |
not provided [RCV002304324] |
Chr12:119713570 [GRCh38]
Chr12:120151375 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2796G>A (p.Leu932=) |
single nucleotide variant |
not provided [RCV003034206] |
Chr12:119752158 [GRCh38]
Chr12:120189963 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2783G>A (p.Arg928His) |
single nucleotide variant |
not provided [RCV003073570] |
Chr12:119752171 [GRCh38]
Chr12:120189976 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1011G>T (p.Leu337=) |
single nucleotide variant |
not provided [RCV002947906] |
Chr12:119822920 [GRCh38]
Chr12:120260724 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3857G>A (p.Arg1286Gln) |
single nucleotide variant |
not provided [RCV003016157] |
Chr12:119718845 [GRCh38]
Chr12:120156650 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.107C>T (p.Pro36Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002762309] |
Chr12:119869191 [GRCh38]
Chr12:120306995 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.420A>T (p.Ser140=) |
single nucleotide variant |
CIT-related condition [RCV003906522]|not provided [RCV002591897] |
Chr12:119850270 [GRCh38]
Chr12:120288074 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2926C>T (p.Arg976Cys) |
single nucleotide variant |
not provided [RCV002927615] |
Chr12:119742443 [GRCh38]
Chr12:120180248 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2532-15del |
deletion |
not provided [RCV002824778] |
Chr12:119757560 [GRCh38]
Chr12:120195364 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.5165A>G (p.Asn1722Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002924497] |
Chr12:119708225 [GRCh38]
Chr12:120146030 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1936G>A (p.Glu646Lys) |
single nucleotide variant |
not provided [RCV002952685] |
Chr12:119775791 [GRCh38]
Chr12:120213595 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3591+7G>A |
single nucleotide variant |
not provided [RCV002923668] |
Chr12:119728495 [GRCh38]
Chr12:120166300 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4684+13C>T |
single nucleotide variant |
not provided [RCV002745889] |
Chr12:119712578 [GRCh38]
Chr12:120150383 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3146G>A (p.Ser1049Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002854366] |
Chr12:119735170 [GRCh38]
Chr12:120172975 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4004C>T (p.Ala1335Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002709701] |
Chr12:119718409 [GRCh38]
Chr12:120156214 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4847C>T (p.Ala1616Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002917044] |
Chr12:119712185 [GRCh38]
Chr12:120149990 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4936-18G>A |
single nucleotide variant |
not provided [RCV002801610] |
Chr12:119710404 [GRCh38]
Chr12:120148209 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3698G>A (p.Arg1233Lys) |
single nucleotide variant |
not provided [RCV002508614] |
Chr12:119721343 [GRCh38]
Chr12:120159148 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2409C>T (p.Ser803=) |
single nucleotide variant |
CIT-related condition [RCV003953860]|not provided [RCV003083730] |
Chr12:119760951 [GRCh38]
Chr12:120198755 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5969G>A (p.Ser1990Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002931375] |
Chr12:119690368 [GRCh38]
Chr12:120128173 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3840+10A>C |
single nucleotide variant |
not provided [RCV002828544] |
Chr12:119720468 [GRCh38]
Chr12:120158273 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2036G>A (p.Arg679Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003008557] |
Chr12:119772816 [GRCh38]
Chr12:120210620 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5152G>A (p.Asp1718Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002669917] |
Chr12:119708238 [GRCh38]
Chr12:120146043 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.341T>C (p.Val114Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002702920] |
Chr12:119857596 [GRCh38]
Chr12:120295400 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3072C>T (p.Asp1024=) |
single nucleotide variant |
not provided [RCV002585871] |
Chr12:119735244 [GRCh38]
Chr12:120173049 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4163C>T (p.Pro1388Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002678101] |
Chr12:119718250 [GRCh38]
Chr12:120156055 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.465G>A (p.Pro155=) |
single nucleotide variant |
not provided [RCV002603768] |
Chr12:119850225 [GRCh38]
Chr12:120288029 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4087C>T (p.Arg1363Trp) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV003144989] |
Chr12:119718326 [GRCh38]
Chr12:120156131 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.938A>G (p.Asn313Ser) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV003144988] |
Chr12:119825184 [GRCh38]
Chr12:120262988 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.2227C>T (p.Arg743Trp) |
single nucleotide variant |
Microcephaly 17, primary, autosomal recessive [RCV003144987] |
Chr12:119767164 [GRCh38]
Chr12:120204968 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1402A>T (p.Met468Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003195651] |
Chr12:119784051 [GRCh38]
Chr12:120221855 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.3787A>G (p.Lys1263Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003193491] |
Chr12:119720531 [GRCh38]
Chr12:120158336 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4812C>T (p.Val1604=) |
single nucleotide variant |
not provided [RCV003390314] |
Chr12:119712220 [GRCh38]
Chr12:120150025 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4579+14T>G |
single nucleotide variant |
not provided [RCV003694346] |
Chr12:119713189 [GRCh38]
Chr12:120150994 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5829C>T (p.Asn1943=) |
single nucleotide variant |
not provided [RCV003726807] |
Chr12:119697712 [GRCh38]
Chr12:120135517 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4353C>T (p.Ala1451=) |
single nucleotide variant |
not provided [RCV003673154] |
Chr12:119713602 [GRCh38]
Chr12:120151407 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1666-9G>T |
single nucleotide variant |
not provided [RCV003668455] |
Chr12:119776851 [GRCh38]
Chr12:120214655 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1230G>A (p.Ser410=) |
single nucleotide variant |
not provided [RCV003833362] |
Chr12:119803271 [GRCh38]
Chr12:120241075 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.210T>A (p.Ile70=) |
single nucleotide variant |
not provided [RCV003700374] |
Chr12:119869088 [GRCh38]
Chr12:120306892 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5071+7G>A |
single nucleotide variant |
CIT-related condition [RCV003946720]|not provided [RCV003559795] |
Chr12:119710244 [GRCh38]
Chr12:120148049 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4436C>T (p.Thr1479Ile) |
single nucleotide variant |
not provided [RCV003700829] |
Chr12:119713519 [GRCh38]
Chr12:120151324 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1189del (p.Val397fs) |
deletion |
not provided [RCV003728379] |
Chr12:119803312 [GRCh38]
Chr12:120241116 [GRCh37]
Chr12:12q24.23 |
pathogenic |
| NM_001206999.2(CIT):c.1838C>T (p.Ala613Val) |
single nucleotide variant |
not provided [RCV003675949] |
Chr12:119776407 [GRCh38]
Chr12:120214211 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.4003+19C>T |
single nucleotide variant |
not provided [RCV003703986] |
Chr12:119718680 [GRCh38]
Chr12:120156485 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.1942-19T>A |
single nucleotide variant |
not provided [RCV003705676] |
Chr12:119772929 [GRCh38]
Chr12:120210733 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2706+9G>A |
single nucleotide variant |
not provided [RCV003733309] |
Chr12:119757362 [GRCh38]
Chr12:120195166 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3689A>G (p.Lys1230Arg) |
single nucleotide variant |
not provided [RCV003871924] |
Chr12:119721352 [GRCh38]
Chr12:120159157 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.5916C>T (p.Asn1972=) |
single nucleotide variant |
CIT-related condition [RCV003939535] |
Chr12:119690421 [GRCh38]
Chr12:120128226 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4305C>T (p.Leu1435=) |
single nucleotide variant |
not provided [RCV003885974] |
Chr12:119714198 [GRCh38]
Chr12:120152003 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.292G>A (p.Glu98Lys) |
single nucleotide variant |
not provided [RCV003720338] |
Chr12:119857645 [GRCh38]
Chr12:120295449 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.390G>A (p.Lys130=) |
single nucleotide variant |
not provided [RCV003728189] |
Chr12:119857547 [GRCh38]
Chr12:120295351 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5542+16G>T |
single nucleotide variant |
not provided [RCV003708038] |
Chr12:119701608 [GRCh38]
Chr12:120139413 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2366A>G (p.Gln789Arg) |
single nucleotide variant |
not provided [RCV003679610] |
Chr12:119760994 [GRCh38]
Chr12:120198798 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.6186+16G>A |
single nucleotide variant |
not provided [RCV003703985] |
Chr12:119690135 [GRCh38]
Chr12:120127940 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.910G>A (p.Ala304Thr) |
single nucleotide variant |
not provided [RCV003566406] |
Chr12:119825212 [GRCh38]
Chr12:120263016 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.692G>A (p.Arg231His) |
single nucleotide variant |
not provided [RCV003566407] |
Chr12:119832832 [GRCh38]
Chr12:120270636 [GRCh37]
Chr12:12q24.23 |
uncertain significance |
| NM_001206999.2(CIT):c.1210C>T (p.Leu404=) |
single nucleotide variant |
not provided [RCV003887411] |
Chr12:119803291 [GRCh38]
Chr12:120241095 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.18T>C (p.Tyr6=) |
single nucleotide variant |
CIT-related condition [RCV003934770] |
Chr12:119876151 [GRCh38]
Chr12:120313955 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2209-6_2209-5del |
microsatellite |
CIT-related condition [RCV003924456] |
Chr12:119767187..119767188 [GRCh38]
Chr12:120204991..120204992 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3486+7G>A |
single nucleotide variant |
CIT-related condition [RCV003914667] |
Chr12:119730488 [GRCh38]
Chr12:120168293 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2532-9C>T |
single nucleotide variant |
CIT-related condition [RCV003896656] |
Chr12:119757554 [GRCh38]
Chr12:120195358 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4131G>A (p.Pro1377=) |
single nucleotide variant |
CIT-related condition [RCV003896823] |
Chr12:119718282 [GRCh38]
Chr12:120156087 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5409C>A (p.Leu1803=) |
single nucleotide variant |
CIT-related condition [RCV003961735] |
Chr12:119701854 [GRCh38]
Chr12:120139659 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.6187-4C>T |
single nucleotide variant |
CIT-related condition [RCV003959151] |
Chr12:119688259 [GRCh38]
Chr12:120126064 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5613T>G (p.Pro1871=) |
single nucleotide variant |
CIT-related condition [RCV003923906] |
Chr12:119700755 [GRCh38]
Chr12:120138560 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4068C>A (p.Ile1356=) |
single nucleotide variant |
CIT-related condition [RCV003934607] |
Chr12:119718345 [GRCh38]
Chr12:120156150 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.3402A>G (p.Ala1134=) |
single nucleotide variant |
not provided [RCV003886062] |
Chr12:119730579 [GRCh38]
Chr12:120168384 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.5151C>T (p.Pro1717=) |
single nucleotide variant |
CIT-related condition [RCV003977125] |
Chr12:119708239 [GRCh38]
Chr12:120146044 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2304+9A>G |
single nucleotide variant |
not provided [RCV003700799] |
Chr12:119767078 [GRCh38]
Chr12:120204882 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2707-19C>T |
single nucleotide variant |
not provided [RCV003703152] |
Chr12:119752266 [GRCh38]
Chr12:120190071 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1584G>A (p.Val528=) |
single nucleotide variant |
not provided [RCV003666769] |
Chr12:119782599 [GRCh38]
Chr12:120220403 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1401+12C>T |
single nucleotide variant |
not provided [RCV003700697] |
Chr12:119784948 [GRCh38]
Chr12:120222752 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.4936-19C>T |
single nucleotide variant |
not provided [RCV003702826] |
Chr12:119710405 [GRCh38]
Chr12:120148210 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.1665+17G>C |
single nucleotide variant |
not provided [RCV003701829] |
Chr12:119782501 [GRCh38]
Chr12:120220305 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.2706+14G>A |
single nucleotide variant |
not provided [RCV003705449] |
Chr12:119757357 [GRCh38]
Chr12:120195161 [GRCh37]
Chr12:12q24.23 |
benign |
| NM_001206999.2(CIT):c.4935+20G>A |
single nucleotide variant |
not provided [RCV003705471] |
Chr12:119710520 [GRCh38]
Chr12:120148325 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1295+7G>A |
single nucleotide variant |
CIT-related condition [RCV003919362]|not provided [RCV003734796] |
Chr12:119803199 [GRCh38]
Chr12:120241003 [GRCh37]
Chr12:12q24.23 |
likely benign |
| NM_001206999.2(CIT):c.1111+17T>G |
single nucleotide variant |
not provided [RCV003704087] |
Chr12:119822803 [GRCh38]
Chr12:120260607 [GRCh37]
Chr12:12q24.23 |
likely benign |
