| NM_001256165.1(TMCO1):c.-252_-251GA[1] |
microsatellite |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome [RCV000024096] |
Chr1:165768764..165768765 [GRCh38]
Chr1:165738001..165738002 [GRCh37]
Chr1:1q24.1 |
pathogenic |
| NM_019026.6(TMCO1):c.259C>T (p.Arg87Ter) |
single nucleotide variant |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV000074398] |
Chr1:165752166 [GRCh38]
Chr1:165721403 [GRCh37]
Chr1:1q24.1 |
pathogenic |
| GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 |
copy number loss |
See cases [RCV000051172] |
Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1 |
pathogenic |
| GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 |
copy number gain |
See cases [RCV000051854] |
Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1 |
pathogenic |
| GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 |
copy number gain |
See cases [RCV000051856] |
Chr1:164922655..180061589 [GRCh38]
Chr1:164891892..180030724 [GRCh37]
Chr1:163158516..178297347 [NCBI36]
Chr1:1q23.3-25.2 |
pathogenic |
| GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] |
Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2 |
pathogenic |
| GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 |
copy number loss |
See cases [RCV000053914] |
Chr1:161740907..173965154 [GRCh38]
Chr1:161710697..173934292 [GRCh37]
Chr1:159977321..172200915 [NCBI36]
Chr1:1q23.3-25.1 |
pathogenic |
| GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1 |
copy number loss |
See cases [RCV000053915] |
Chr1:162040050..167480663 [GRCh38]
Chr1:162009840..167449900 [GRCh37]
Chr1:160276464..165716524 [NCBI36]
Chr1:1q23.3-24.2 |
pathogenic |
| GRCh38/hg38 1q23.3-24.3(chr1:164036599-171252077)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053916]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053916]|See cases [RCV000053916] |
Chr1:164036599..171252077 [GRCh38]
Chr1:164005836..171221216 [GRCh37]
Chr1:162272460..169487840 [NCBI36]
Chr1:1q23.3-24.3 |
pathogenic |
| GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1 |
copy number loss |
See cases [RCV000143292] |
Chr1:163382523..175877022 [GRCh38]
Chr1:163352313..175846158 [GRCh37]
Chr1:161618937..174112781 [NCBI36]
Chr1:1q23.3-25.1 |
pathogenic |
| NM_019026.6(TMCO1):c.323+3G>C |
single nucleotide variant |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV000203247] |
Chr1:165752099 [GRCh38]
Chr1:165721336 [GRCh37]
Chr1:1q24.1 |
pathogenic |
| GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2 |
pathogenic |
| NM_019026.6(TMCO1):c.187C>T (p.Arg63Ter) |
single nucleotide variant |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV000851185]|not provided [RCV000255045] |
Chr1:165759546 [GRCh38]
Chr1:165728783 [GRCh37]
Chr1:1q24.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_019026.6(TMCO1):c.87_90del (p.Val30fs) |
deletion |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV000169680] |
Chr1:165768250..165768253 [GRCh38]
Chr1:165737487..165737490 [GRCh37]
Chr1:1q24.1 |
pathogenic |
| NM_019026.6(TMCO1):c.391C>T (p.Arg131Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000622321] |
Chr1:165743244 [GRCh38]
Chr1:165712481 [GRCh37]
Chr1:1q24.1 |
pathogenic |
| NM_019026.6(TMCO1):c.26dup (p.Leu10fs) |
duplication |
not provided [RCV000722200] |
Chr1:165768725..165768726 [GRCh38]
Chr1:165737962..165737963 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.372C>A (p.Tyr124Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624718] |
Chr1:165743263 [GRCh38]
Chr1:165712500 [GRCh37]
Chr1:1q24.1 |
pathogenic |
| GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) |
copy number loss |
not provided [RCV000767779] |
Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1 |
pathogenic |
| NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) |
single nucleotide variant |
Autism [RCV000735317]|Cerebro facio thoracic dysplasia [RCV003389727]|Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV001030791]|See cases [RCV003156117] |
Chr1:165743172 [GRCh38]
Chr1:165712409 [GRCh37]
Chr1:1q24.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 |
copy number loss |
See cases [RCV000447098] |
Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3 |
pathogenic |
| NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) |
microsatellite |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV000677638]|Inborn genetic diseases [RCV001266610]|TMCO1-related condition [RCV003419799]|not provided [RCV000481400] |
Chr1:165768200..165768201 [GRCh38]
Chr1:165737437..165737438 [GRCh37]
Chr1:1q24.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_019026.6(TMCO1):c.493_494del (p.Ala165fs) |
deletion |
Cleft upper lip [RCV000735290]|See cases [RCV003156111] |
Chr1:165728096..165728097 [GRCh38]
Chr1:165697333..165697334 [GRCh37]
Chr1:1q24.1 |
likely pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 |
copy number loss |
not provided [RCV000736717] |
Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2 |
pathogenic |
| NM_019026.6(TMCO1):c.256-83T>A |
single nucleotide variant |
not provided [RCV001612512] |
Chr1:165752252 [GRCh38]
Chr1:165721489 [GRCh37]
Chr1:1q24.1 |
benign |
| NM_019026.6(TMCO1):c.469-153dup |
duplication |
not provided [RCV001690453] |
Chr1:165728260..165728261 [GRCh38]
Chr1:165697497..165697498 [GRCh37]
Chr1:1q24.1 |
benign |
| GRCh37/hg19 1q24.1(chr1:165664534-165767373)x1 |
copy number loss |
not provided [RCV000762727] |
Chr1:165664534..165767373 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NM_019026.6(TMCO1):c.323+116A>G |
single nucleotide variant |
not provided [RCV001691747] |
Chr1:165751986 [GRCh38]
Chr1:165721223 [GRCh37]
Chr1:1q24.1 |
benign |
| NM_019026.6(TMCO1):c.324-8del |
deletion |
not provided [RCV000946519]|not specified [RCV001702862] |
Chr1:165743319 [GRCh38]
Chr1:165712556 [GRCh37]
Chr1:1q24.1 |
benign |
| NM_019026.6(TMCO1):c.324-8dup |
duplication |
not provided [RCV000949655] |
Chr1:165743318..165743319 [GRCh38]
Chr1:165712555..165712556 [GRCh37]
Chr1:1q24.1 |
benign |
| GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1 |
copy number loss |
not provided [RCV000849156] |
Chr1:163093021..168991239 [GRCh37]
Chr1:1q23.3-24.2 |
pathogenic |
| NM_019026.6(TMCO1):c.44C>T (p.Ser15Phe) |
single nucleotide variant |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV001095669] |
Chr1:165768708 [GRCh38]
Chr1:165737945 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 |
copy number loss |
not provided [RCV000848773] |
Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2 |
pathogenic |
| NM_019026.6(TMCO1):c.256-187G>T |
single nucleotide variant |
not provided [RCV001581997] |
Chr1:165752356 [GRCh38]
Chr1:165721593 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NM_019026.6(TMCO1):c.323+36A>G |
single nucleotide variant |
not provided [RCV001554888] |
Chr1:165752066 [GRCh38]
Chr1:165721303 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NM_019026.6(TMCO1):c.256-35del |
deletion |
not provided [RCV001688779] |
Chr1:165752204 [GRCh38]
Chr1:165721441 [GRCh37]
Chr1:1q24.1 |
benign |
| NM_019026.6(TMCO1):c.255+261del |
deletion |
not provided [RCV001592326] |
Chr1:165753967 [GRCh38]
Chr1:165723204 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NM_019026.6(TMCO1):c.209-215A>G |
single nucleotide variant |
not provided [RCV001620281] |
Chr1:165754489 [GRCh38]
Chr1:165723726 [GRCh37]
Chr1:1q24.1 |
benign |
| NM_019026.6(TMCO1):c.468+129T>C |
single nucleotide variant |
not provided [RCV001552879] |
Chr1:165743038 [GRCh38]
Chr1:165712275 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NM_019026.6(TMCO1):c.-66T>C |
single nucleotide variant |
not provided [RCV000913229] |
Chr1:165768817 [GRCh38]
Chr1:165738054 [GRCh37]
Chr1:1q24.1 |
benign|likely benign |
| NM_019026.6(TMCO1):c.256-12G>A |
single nucleotide variant |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV002501906]|not provided [RCV001562117] |
Chr1:165752181 [GRCh38]
Chr1:165721418 [GRCh37]
Chr1:1q24.1 |
benign|likely benign |
| NM_019026.6(TMCO1):c.-90G>A |
single nucleotide variant |
not provided [RCV001720954] |
Chr1:165768841 [GRCh38]
Chr1:165738078 [GRCh37]
Chr1:1q24.1 |
benign |
| NM_019026.6(TMCO1):c.486C>T (p.Leu162=) |
single nucleotide variant |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV001838710]|not provided [RCV001621807] |
Chr1:165728104 [GRCh38]
Chr1:165697341 [GRCh37]
Chr1:1q24.1 |
benign |
| NM_019026.6(TMCO1):c.383T>C (p.Leu128Pro) |
single nucleotide variant |
not provided [RCV002259525] |
Chr1:165743252 [GRCh38]
Chr1:165712489 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.209-259T>C |
single nucleotide variant |
not provided [RCV001684896] |
Chr1:165754533 [GRCh38]
Chr1:165723770 [GRCh37]
Chr1:1q24.1 |
benign |
| NR_125374.1(TMCO1-AS1):n.298G>C |
single nucleotide variant |
not provided [RCV001650048] |
Chr1:165769226 [GRCh38]
Chr1:165738463 [GRCh37]
Chr1:1q24.1 |
benign |
| NM_019026.6(TMCO1):c.71-198G>C |
single nucleotide variant |
not provided [RCV001598268] |
Chr1:165768467 [GRCh38]
Chr1:165737704 [GRCh37]
Chr1:1q24.1 |
benign |
| NM_019026.6(TMCO1):c.256-103dup |
duplication |
not provided [RCV001572029] |
Chr1:165752252..165752253 [GRCh38]
Chr1:165721489..165721490 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NM_019026.6(TMCO1):c.208+286A>G |
single nucleotide variant |
not provided [RCV001581325] |
Chr1:165759239 [GRCh38]
Chr1:165728476 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NM_019026.6(TMCO1):c.110del (p.Lys37fs) |
deletion |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome [RCV001334042] |
Chr1:165768230 [GRCh38]
Chr1:165737467 [GRCh37]
Chr1:1q24.1 |
pathogenic |
| GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1 |
copy number loss |
not provided [RCV001258478] |
Chr1:164608682..169216098 [GRCh37]
Chr1:1q23.3-24.2 |
likely pathogenic |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_019026.6(TMCO1):c.256-43_256-42dup |
duplication |
not provided [RCV001671077] |
Chr1:165752203..165752204 [GRCh38]
Chr1:165721440..165721441 [GRCh37]
Chr1:1q24.1 |
benign |
| NM_019026.6(TMCO1):c.148+136T>C |
single nucleotide variant |
not provided [RCV001665107] |
Chr1:165768056 [GRCh38]
Chr1:165737293 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NR_125374.1(TMCO1-AS1):n.146A>T |
single nucleotide variant |
not provided [RCV001682271] |
Chr1:165769074 [GRCh38]
Chr1:165738311 [GRCh37]
Chr1:1q24.1 |
benign |
| NM_019026.6(TMCO1):c.256-83del |
deletion |
not provided [RCV001698856] |
Chr1:165752252 [GRCh38]
Chr1:165721489 [GRCh37]
Chr1:1q24.1 |
benign |
| NM_019026.6(TMCO1):c.324-7C>T |
single nucleotide variant |
not provided [RCV001499216] |
Chr1:165743318 [GRCh38]
Chr1:165712555 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NM_019026.6(TMCO1):c.106_111del (p.Tyr36_Lys37del) |
deletion |
not provided [RCV001769279] |
Chr1:165768229..165768234 [GRCh38]
Chr1:165737466..165737471 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.-33del |
deletion |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV001783873] |
Chr1:165768784 [GRCh38]
Chr1:165738021 [GRCh37]
Chr1:1q24.1 |
likely pathogenic |
| NM_019026.6(TMCO1):c.256-145_256-144dup |
duplication |
not provided [RCV001797285] |
Chr1:165752312..165752313 [GRCh38]
Chr1:165721549..165721550 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NM_019026.6(TMCO1):c.147dup (p.Leu50fs) |
duplication |
not provided [RCV001806986] |
Chr1:165768192..165768193 [GRCh38]
Chr1:165737429..165737430 [GRCh37]
Chr1:1q24.1 |
likely pathogenic |
| GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331) |
copy number loss |
not specified [RCV002053680] |
Chr1:162330810..171532331 [GRCh37]
Chr1:1q23.3-24.3 |
pathogenic |
| GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) |
copy number loss |
not specified [RCV002053658] |
Chr1:160417296..166197042 [GRCh37]
Chr1:1q23.2-24.1 |
pathogenic |
| NM_019026.6(TMCO1):c.-117A>G |
single nucleotide variant |
not provided [RCV001916972] |
Chr1:165768868 [GRCh38]
Chr1:165738105 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.70G>C (p.Gly24Arg) |
single nucleotide variant |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV002267201] |
Chr1:165768682 [GRCh38]
Chr1:165737919 [GRCh37]
Chr1:1q24.1 |
pathogenic |
| NM_019026.6(TMCO1):c.70G>A (p.Gly24Ser) |
single nucleotide variant |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV002293406] |
Chr1:165768682 [GRCh38]
Chr1:165737919 [GRCh37]
Chr1:1q24.1 |
likely pathogenic |
| NM_019026.6(TMCO1):c.260G>C (p.Arg87Pro) |
single nucleotide variant |
not provided [RCV002756098] |
Chr1:165752165 [GRCh38]
Chr1:165721402 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.52A>C (p.Thr18Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002772884] |
Chr1:165768700 [GRCh38]
Chr1:165737937 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.70+5G>C |
single nucleotide variant |
not provided [RCV002786096] |
Chr1:165768677 [GRCh38]
Chr1:165737914 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.367T>C (p.Ser123Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002823550] |
Chr1:165743268 [GRCh38]
Chr1:165712505 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.-50G>A |
single nucleotide variant |
not provided [RCV002923857] |
Chr1:165768801 [GRCh38]
Chr1:165738038 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.337G>C (p.Val113Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002919622] |
Chr1:165743298 [GRCh38]
Chr1:165712535 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.340G>T (p.Val114Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002873225] |
Chr1:165743295 [GRCh38]
Chr1:165712532 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.458C>T (p.Ser153Leu) |
single nucleotide variant |
not provided [RCV002573754] |
Chr1:165743177 [GRCh38]
Chr1:165712414 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.-76C>G |
single nucleotide variant |
not provided [RCV002895890] |
Chr1:165768827 [GRCh38]
Chr1:165738064 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.256-7A>G |
single nucleotide variant |
not provided [RCV002628029] |
Chr1:165752176 [GRCh38]
Chr1:165721413 [GRCh37]
Chr1:1q24.1 |
likely benign |
| GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1 |
copy number loss |
not provided [RCV003483966] |
Chr1:164571371..175708060 [GRCh37]
Chr1:1q23.3-25.1 |
pathogenic |
| NM_019026.4(TMCO1):c.6C>G (p.Pro2=) |
single nucleotide variant |
not provided [RCV003574168] |
Chr1:165768899 [GRCh38]
Chr1:165738136 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NM_019026.6(TMCO1):c.507C>T (p.Ala169=) |
single nucleotide variant |
not provided [RCV003826806] |
Chr1:165728083 [GRCh38]
Chr1:165697320 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NM_019026.6(TMCO1):c.70+7G>A |
single nucleotide variant |
not provided [RCV003814058] |
Chr1:165768675 [GRCh38]
Chr1:165737912 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NM_019026.6(TMCO1):c.417A>G (p.Thr139=) |
single nucleotide variant |
not provided [RCV003707344] |
Chr1:165743218 [GRCh38]
Chr1:165712455 [GRCh37]
Chr1:1q24.1 |
likely benign |
| NM_019026.6(TMCO1):c.-69C>T |
single nucleotide variant |
not provided [RCV003732188] |
Chr1:165768820 [GRCh38]
Chr1:165738057 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
| NM_019026.6(TMCO1):c.533T>C (p.Leu178Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004472685] |
Chr1:165728057 [GRCh38]
Chr1:165697294 [GRCh37]
Chr1:1q24.1 |
uncertain significance |
