Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_006031.5(PCNT):c.55-5C>T | 5116 | PCNT | Uncertain significance | 587784310 | RCV000147149; | N | MedGen:C1859451,OMIM:210720 | 21 | 47746286 | 47746286 | NM_006031.5:c.55-5C>T | | NC_000021.8:g.47746286C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.196G>T (p.Gly66Ter) | 5116 | PCNT | Likely pathogenic;Pathogenic | 587779355 | RCV000115045; RCV000171352; | N | MedGen:C1859451,OMIM:210720; MedGen:CN221809 | 21 | 47746432 | 47746432 | NM_006031.5:c.196G>T | NP_006022.3:p.Gly66Ter | NC_000021.8:g.47746432G>T | VariO:0043 | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2; CN221809 not provided | | |
NM_006031.5(PCNT):c.244G>A (p.Ala82Thr) | 5116 | PCNT | Uncertain significance | 143870030 | RCV000147095; | N | MedGen:C1859451,OMIM:210720 | 21 | 47746480 | 47746480 | NM_006031.5:c.244G>A | NP_006022.3:p.Ala82Thr | NC_000021.8:g.47746480G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.336T>C (p.His112=) | 5116 | PCNT | Uncertain significance | 59157477 | RCV000147111; | N | MedGen:C1859451,OMIM:210720 | 21 | 47754379 | 47754379 | NM_006031.5:c.336T>C | NP_006022.3:p.His112= | NC_000021.8:g.47754379T>C | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.339T>A (p.Pro113=) | 5116 | PCNT | Uncertain significance | 59662841 | RCV000147112; | N | MedGen:C1859451,OMIM:210720 | 21 | 47754382 | 47754382 | NM_006031.5:c.339T>A | NP_006022.3:p.Pro113= | NC_000021.8:g.47754382T>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.427C>T (p.Arg143Cys) | 5116 | PCNT | Uncertain significance | 201176638 | RCV000147123; | N | MedGen:C1859451,OMIM:210720 | 21 | 47754470 | 47754470 | NM_006031.5:c.427C>T | NP_006022.3:p.Arg143Cys | NC_000021.8:g.47754470C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.445A>T (p.Ser149Cys) | 5116 | PCNT | Uncertain significance | 111737555 | RCV000147129; | N | MedGen:C1859451,OMIM:210720 | 21 | 47754488 | 47754488 | NM_006031.5:c.445A>T | NP_006022.3:p.Ser149Cys | NC_000021.8:g.47754488A>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.658G>T (p.Glu220Ter) | 5116 | PCNT | Pathogenic | 119479061 | RCV000004968; | N | MedGen:C1859451,OMIM:210720 | 21 | 47766060 | 47766060 | NM_006031.5:c.658G>T | NP_006022.3:p.Glu220Ter | NC_000021.8:g.47766060G>T | OMIM Allelic Variant:605925.0001 | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.931G>A (p.Ala311Thr) | 5116 | PCNT | Uncertain significance | 140196457 | RCV000147244; | N | MedGen:C1859451,OMIM:210720 | 21 | 47766867 | 47766867 | NM_006031.5:c.931G>A | NP_006022.3:p.Ala311Thr | NC_000021.8:g.47766867G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.1040A>G (p.Lys347Arg) | 5116 | PCNT | Uncertain significance | 80166001 | RCV000147087; | N | MedGen:C1859451,OMIM:210720 | 21 | 47768933 | 47768933 | NM_006031.5:c.1040A>G | NP_006022.3:p.Lys347Arg | NC_000021.8:g.47768933A>G | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.1468C>T (p.Gln490Ter) | 5116 | PCNT | Pathogenic | 181690344 | RCV000147089; | N | MedGen:C1859451,OMIM:210720 | 21 | 47773029 | 47773029 | NM_006031.5:c.1468C>T | NP_006022.3:p.Gln490Ter | NC_000021.8:g.47773029C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.1714_1717delAAAG (p.Lys572Glufs) | 5116 | PCNT | Pathogenic | 797045875 | RCV000193825; | N | MedGen:C1859451,OMIM:210720 | 21 | 47773935 | 47773938 | NM_006031.5:c.1714_1717delAAAG | NP_006022.3:p.Lys572Glufs | NC_000021.8:g.47773935_47773938delAAAG | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.1887delA (p.Ala630Hisfs) | 5116 | PCNT | Pathogenic | 397509366 | RCV000004969; | N | MedGen:C1859451,OMIM:210720 | 21 | 47775492 | 47775492 | NM_006031.5:c.1887delA | NP_006022.3:p.Ala630Hisfs | NC_000021.8:g.47775492delA | OMIM Allelic Variant:605925.0002 | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.2470C>T (p.Leu824=) | 5116 | PCNT | Uncertain significance | 61735803 | RCV000147096; | N | MedGen:C1859451,OMIM:210720 | 21 | 47783710 | 47783710 | NM_006031.5:c.2470C>T | NP_006022.3:p.Leu824= | NC_000021.8:g.47783710C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.2710C>T (p.Leu904Phe) | 5116 | PCNT | Uncertain significance | 61735804 | RCV000147101; | N | MedGen:C1859451,OMIM:210720 | 21 | 47786599 | 47786599 | NM_006031.5:c.2710C>T | NP_006022.3:p.Leu904Phe | NC_000021.8:g.47786599C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.2714A>G (p.Gln905Arg) | 5116 | PCNT | Uncertain significance | 112231246 | RCV000147102; | N | MedGen:C1859451,OMIM:210720 | 21 | 47786603 | 47786603 | NM_006031.5:c.2714A>G | NP_006022.3:p.Gln905Arg | NC_000021.8:g.47786603A>G | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.2742A>G (p.Ser914=) | 5116 | PCNT | Uncertain significance | 587784301 | RCV000147103; | N | MedGen:C1859451,OMIM:210720 | 21 | 47786631 | 47786631 | NM_006031.5:c.2742A>G | NP_006022.3:p.Ser914= | NC_000021.8:g.47786631A>G | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.2984_2994delCAGACTTTGAG (p.Ala995Glyfs) | 5116 | PCNT | Pathogenic | 587784302 | RCV000147105; | N | MedGen:C1859451,OMIM:210720 | 21 | 47786873 | 47786883 | NM_006031.5:c.2984_2994delCAGACTTTGAG | NP_006022.3:p.Ala995Glyfs | NC_000021.8:g.47786873_47786883delCAGACTTTGAG | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.3109G>T (p.Glu1037Ter) | 5116 | PCNT | Pathogenic | 119479063 | RCV000004973; | N | MedGen:C1859451,OMIM:210720 | 21 | 47786998 | 47786998 | NM_006031.5:c.3109G>T | NP_006022.3:p.Glu1037Ter | NC_000021.8:g.47786998G>T | OMIM Allelic Variant:605925.0006 | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.3220C>T (p.Arg1074Trp) | 5116 | PCNT | Uncertain significance | 200174202 | RCV000147107; | N | MedGen:C1859451,OMIM:210720 | 21 | 47801663 | 47801663 | NM_006031.5:c.3220C>T | NP_006022.3:p.Arg1074Trp | NC_000021.8:g.47801663C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.3233C>A (p.Ala1078Glu) | 5116 | PCNT | Uncertain significance | 587784303 | RCV000147108; | N | MedGen:C1859451,OMIM:210720 | 21 | 47801676 | 47801676 | NM_006031.5:c.3233C>A | NP_006022.3:p.Ala1078Glu | NC_000021.8:g.47801676C>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.3282G>T (p.Gln1094His) | 5116 | PCNT | Uncertain significance | 78484478 | RCV000147109; | N | MedGen:C1859451,OMIM:210720 | 21 | 47801725 | 47801725 | NM_006031.5:c.3282G>T | NP_006022.3:p.Gln1094His | NC_000021.8:g.47801725G>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.3460G>T (p.Glu1154Ter) | 5116 | PCNT | Pathogenic | 387906928 | RCV000023500; | N | MedGen:C1859451,OMIM:210720 | 21 | 47805894 | 47805894 | NM_006031.5:c.3460G>T | NP_006022.3:p.Glu1154Ter | NC_000021.8:g.47805894G>T | OMIM Allelic Variant:605925.0011 | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.3568dupT (p.Cys1190Leufs) | 5116 | PCNT | Pathogenic | 397514033 | RCV000004970; | N | MedGen:C1859451,OMIM:210720 | 21 | 47808760 | 47808760 | NM_006031.5:c.3568dupT | NP_006022.3:p.Cys1190Leufs | NC_000021.8:g.47808760dupT | OMIM Allelic Variant:605925.0003 | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.3581C>T (p.Ala1194Val) | 5116 | PCNT | Uncertain significance | 138254119 | RCV000147116; | N | MedGen:C1859451,OMIM:210720 | 21 | 47808773 | 47808773 | NM_006031.5:c.3581C>T | NP_006022.3:p.Ala1194Val | NC_000021.8:g.47808773C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.3748C>T (p.Arg1250Trp) | 5116 | PCNT | Uncertain significance | 117987006 | RCV000147118; | N | MedGen:C1859451,OMIM:210720 | 21 | 47809254 | 47809254 | NM_006031.5:c.3748C>T | NP_006022.3:p.Arg1250Trp | NC_000021.8:g.47809254C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.3992A>G (p.His1331Arg) | 5116 | PCNT | Uncertain significance | 34012939 | RCV000147119; | N | MedGen:C1859451,OMIM:210720 | 21 | 47810736 | 47810736 | NM_006031.5:c.3992A>G | NP_006022.3:p.His1331Arg | NC_000021.8:g.47810736A>G | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.4139C>T (p.Ala1380Val) | 5116 | PCNT | Uncertain significance | 201139850 | RCV000147120; | N | MedGen:C1859451,OMIM:210720 | 21 | 47811214 | 47811214 | NM_006031.5:c.4139C>T | NP_006022.3:p.Ala1380Val | NC_000021.8:g.47811214C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.4175G>A (p.Arg1392Gln) | 5116 | PCNT | Uncertain significance | 587784304 | RCV000147121; | N | MedGen:C1859451,OMIM:210720 | 21 | 47811250 | 47811250 | NM_006031.5:c.4175G>A | NP_006022.3:p.Arg1392Gln | NC_000021.8:g.47811250G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.4354G>A (p.Gly1452Arg) | 5116 | PCNT | Uncertain significance | 143796569 | RCV000147127; | N | MedGen:C1859451,OMIM:210720 | 21 | 47817316 | 47817316 | NM_006031.5:c.4354G>A | NP_006022.3:p.Gly1452Arg | NC_000021.8:g.47817316G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.4431G>A (p.Gln1477=) | 5116 | PCNT | Uncertain significance | 61735807 | RCV000147128; | N | MedGen:C1859451,OMIM:210720 | 21 | 47817393 | 47817393 | NM_006031.5:c.4431G>A | NP_006022.3:p.Gln1477= | NC_000021.8:g.47817393G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.4769A>G (p.Asn1590Ser) | 5116 | PCNT | Uncertain significance | 587784307 | RCV000147135; | N | MedGen:C1859451,OMIM:210720 | 21 | 47819688 | 47819688 | NM_006031.5:c.4769A>G | NP_006022.3:p.Asn1590Ser | NC_000021.8:g.47819688A>G | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.4844C>T (p.Thr1615Met) | 5116 | PCNT | Uncertain significance | 139581644 | RCV000147136; | N | MedGen:C1859451,OMIM:210720 | 21 | 47821517 | 47821517 | NM_006031.5:c.4844C>T | NP_006022.3:p.Thr1615Met | NC_000021.8:g.47821517C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.4938_4939delAG (p.Arg1646Serfs) | 5116 | PCNT | Pathogenic | 797045879 | RCV000193571; | N | MedGen:C1859451,OMIM:210720 | 21 | 47821611 | 47821612 | NM_006031.5:c.4938_4939delAG | NP_006022.3:p.Arg1646Serfs | NC_000021.8:g.47821611_47821612delAG | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.5020G>T (p.Glu1674Ter) | 5116 | PCNT | Pathogenic | 587784308 | RCV000147141; | N | MedGen:C1859451,OMIM:210720 | 21 | 47822302 | 47822302 | NM_006031.5:c.5020G>T | NP_006022.3:p.Glu1674Ter | NC_000021.8:g.47822302G>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.5199G>A (p.Lys1733=) | 5116 | PCNT | Uncertain significance | 61735808 | RCV000147143; | N | MedGen:C1859451,OMIM:210720 | 21 | 47831186 | 47831186 | NM_006031.5:c.5199G>A | NP_006022.3:p.Lys1733= | NC_000021.8:g.47831186G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.5347C>T (p.Pro1783Ser) | 5116 | PCNT | Uncertain significance | 61735809 | RCV000147146; | N | MedGen:C1859451,OMIM:210720 | 21 | 47831334 | 47831334 | NM_006031.5:c.5347C>T | NP_006022.3:p.Pro1783Ser | NC_000021.8:g.47831334C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.5431C>T (p.Arg1811Cys) | 5116 | PCNT | Uncertain significance | 587784309 | RCV000147148; | N | MedGen:C1859451,OMIM:210720 | 21 | 47831418 | 47831418 | NM_006031.5:c.5431C>T | NP_006022.3:p.Arg1811Cys | NC_000021.8:g.47831418C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.5578G>T (p.Glu1860Ter) | 5116 | PCNT | Pathogenic | 369195346 | RCV000147151; | N | MedGen:C1859451,OMIM:210720 | 21 | 47831565 | 47831565 | NM_006031.5:c.5578G>T | NP_006022.3:p.Glu1860Ter | NC_000021.8:g.47831565G>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.5677G>T (p.Ala1893Ser) | 5116 | PCNT | Uncertain significance | 587784311 | RCV000147152; | N | MedGen:C1859451,OMIM:210720 | 21 | 47831664 | 47831664 | NM_006031.5:c.5677G>T | NP_006022.3:p.Ala1893Ser | NC_000021.8:g.47831664G>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.5727_5736delCCTGGCAGCC (p.Leu1910Glyfs) | 5116 | PCNT | Pathogenic | 587784312 | RCV000147153; | N | MedGen:C1859451,OMIM:210720 | 21 | 47831714 | 47831723 | NM_006031.5:c.5727_5736delCCTGGCAGCC | NP_006022.3:p.Leu1910Glyfs | NC_000021.8:g.47831714_47831723delCCTGGCAGCC | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.5767C>T (p.Arg1923Ter) | 5116 | PCNT | Pathogenic | 119479062 | RCV000004971; | N | MedGen:C1859451,OMIM:210720 | 21 | 47831754 | 47831754 | NM_006031.5:c.5767C>T | NP_006022.3:p.Arg1923Ter | NC_000021.8:g.47831754C>T | OMIM Allelic Variant:605925.0004 | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.5774A>C (p.Gln1925Pro) | 5116 | PCNT | Uncertain significance | 587784313 | RCV000147155; | N | MedGen:C1859451,OMIM:210720 | 21 | 47831761 | 47831761 | NM_006031.5:c.5774A>C | NP_006022.3:p.Gln1925Pro | NC_000021.8:g.47831761A>C | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.6572C>A (p.Ser2191Tyr) | 5116 | PCNT | Uncertain significance | 587784315 | RCV000147169; | N | MedGen:C1859451,OMIM:210720 | 21 | 47836404 | 47836404 | NM_006031.5:c.6572C>A | NP_006022.3:p.Ser2191Tyr | NC_000021.8:g.47836404C>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.6633C>T (p.Pro2211=) | 5116 | PCNT | Uncertain significance | 587784316 | RCV000147173; | N | MedGen:C1859451,OMIM:210720 | 21 | 47836465 | 47836465 | NM_006031.5:c.6633C>T | NP_006022.3:p.Pro2211= | NC_000021.8:g.47836465C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.6722G>A (p.Ser2241Asn) | 5116 | PCNT | Uncertain significance | 142402562 | RCV000147176; | N | MedGen:C1859451,OMIM:210720 | 21 | 47836554 | 47836554 | NM_006031.5:c.6722G>A | NP_006022.3:p.Ser2241Asn | NC_000021.8:g.47836554G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.6761G>A (p.Cys2254Tyr) | 5116 | PCNT | Uncertain significance | 141635334 | RCV000147178; | N | MedGen:C1859451,OMIM:210720 | 21 | 47836593 | 47836593 | NM_006031.5:c.6761G>A | NP_006022.3:p.Cys2254Tyr | NC_000021.8:g.47836593G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.6922-4A>T | 5116 | PCNT | Uncertain significance | 587784317 | RCV000147181; | N | MedGen:C1859451,OMIM:210720 | 21 | 47838114 | 47838114 | NM_006031.5:c.6922-4A>T | | NC_000021.8:g.47838114A>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.7011T>C (p.Asp2337=) | 5116 | PCNT | Uncertain significance | 138506849 | RCV000147186; | N | MedGen:C1859451,OMIM:210720 | 21 | 47838207 | 47838207 | NM_006031.5:c.7011T>C | NP_006022.3:p.Asp2337= | NC_000021.8:g.47838207T>C | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.7297T>C (p.Ser2433Pro) | 5116 | PCNT | Uncertain significance | 113536916 | RCV000147196; | N | MedGen:C1859451,OMIM:210720 | 21 | 47845862 | 47845862 | NM_006031.5:c.7297T>C | NP_006022.3:p.Ser2433Pro | NC_000021.8:g.47845862T>C | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.7321-10C>T | 5116 | PCNT | Uncertain significance | 587784318 | RCV000147197; | N | MedGen:C1859451,OMIM:210720 | 21 | 47847526 | 47847526 | NM_006031.5:c.7321-10C>T | | NC_000021.8:g.47847526C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.7465G>A (p.Glu2489Lys) | 5116 | PCNT | Uncertain significance | 148485670 | RCV000147200; | N | MedGen:C1859451,OMIM:210720 | 21 | 47847680 | 47847680 | NM_006031.5:c.7465G>A | NP_006022.3:p.Glu2489Lys | NC_000021.8:g.47847680G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.7648G>A (p.Glu2550Lys) | 5116 | PCNT | Uncertain significance | 71326327 | RCV000147205; | N | MedGen:C1859451,OMIM:210720 | 21 | 47848462 | 47848462 | NM_006031.5:c.7648G>A | NP_006022.3:p.Glu2550Lys | NC_000021.8:g.47848462G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.7655G>A (p.Arg2552His) | 5116 | PCNT | Uncertain significance | 199589423 | RCV000147207; | N | MedGen:C1859451,OMIM:210720 | 21 | 47848469 | 47848469 | NM_006031.5:c.7655G>A | NP_006022.3:p.Arg2552His | NC_000021.8:g.47848469G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.7796delT (p.Leu2599Argfs) | 5116 | PCNT | Pathogenic | 587784319 | RCV000147209; | N | MedGen:C1859451,OMIM:210720 | 21 | 47850029 | 47850029 | NM_006031.5:c.7796delT | NP_006022.3:p.Leu2599Argfs | NC_000021.8:g.47850029delT | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.8398C>T (p.Arg2800Trp) | 5116 | PCNT | Uncertain significance | 142608069 | RCV000147223; | N | MedGen:C1859451,OMIM:210720 | 21 | 47851776 | 47851776 | NM_006031.5:c.8398C>T | NP_006022.3:p.Arg2800Trp | NC_000021.8:g.47851776C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.8672C>T (p.Ala2891Val) | 5116 | PCNT | Uncertain significance | 144963695 | RCV000147226; | N | MedGen:C1859451,OMIM:210720 | 21 | 47852050 | 47852050 | NM_006031.5:c.8672C>T | NP_006022.3:p.Ala2891Val | NC_000021.8:g.47852050C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.8752C>T (p.Arg2918Ter) | 5116 | PCNT | Pathogenic | 119479064 | RCV000004975; | N | MedGen:C1859451,OMIM:210720 | 21 | 47855817 | 47855817 | NM_006031.5:c.8752C>T | NP_006022.3:p.Arg2918Ter | NC_000021.8:g.47855817C>T | OMIM Allelic Variant:605925.0008 | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.8868dupT (p.Ala2957Cysfs) | 5116 | PCNT | Pathogenic | 587784320 | RCV000147229; | N | MedGen:C1859451,OMIM:210720 | 21 | 47855933 | 47855933 | NM_006031.5:c.8868dupT | NP_006022.3:p.Ala2957Cysfs | NC_000021.8:g.47855933dupT | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.8873G>A (p.Arg2958His) | 5116 | PCNT | Uncertain significance | 574728262 | RCV000147230; | N | MedGen:C1859451,OMIM:210720 | 21 | 47855938 | 47855938 | NM_006031.5:c.8873G>A | NP_006022.3:p.Arg2958His | NC_000021.8:g.47855938G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.8917C>T (p.Arg2973Ter) | 5116 | PCNT | Pathogenic | 587784321 | RCV000147233; | N | MedGen:C1859451,OMIM:210720 | 21 | 47855982 | 47855982 | NM_006031.5:c.8917C>T | NP_006022.3:p.Arg2973Ter | NC_000021.8:g.47855982C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.8947C>G (p.Leu2983Val) | 5116 | PCNT | Uncertain significance | 372356069 | RCV000147235; | N | MedGen:C1859451,OMIM:210720 | 21 | 47856012 | 47856012 | NM_006031.5:c.8947C>G | NP_006022.3:p.Leu2983Val | NC_000021.8:g.47856012C>G,NC_000021.8:g.47856012C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.8959C>T (p.Arg2987Trp) | 5116 | PCNT | Uncertain significance | 587784322 | RCV000147236; | N | MedGen:C1859451,OMIM:210720 | 21 | 47856024 | 47856024 | NM_006031.5:c.8959C>T | NP_006022.3:p.Arg2987Trp | NC_000021.8:g.47856024C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.9174G>A (p.Ala3058=) | 5116 | PCNT | Uncertain significance | 554275370 | RCV000147240; | N | MedGen:C1859451,OMIM:210720 | 21 | 47858151 | 47858151 | NM_006031.5:c.9174G>A | NP_006022.3:p.Ala3058= | NC_000021.8:g.47858151G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.9584G>A (p.Arg3195Lys) | 5116 | PCNT | Uncertain significance | 78524660 | RCV000147246; | N | MedGen:C1859451,OMIM:210720 | 21 | 47860958 | 47860958 | NM_006031.5:c.9584G>A | NP_006022.3:p.Arg3195Lys | NC_000021.8:g.47860958G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.9698C>G (p.Pro3233Arg) | 5116 | PCNT | Uncertain significance | 373681566 | RCV000147248; | N | MedGen:C1859451,OMIM:210720 | 21 | 47862484 | 47862484 | NM_006031.5:c.9698C>G | NP_006022.3:p.Pro3233Arg | NC_000021.8:g.47862484C>G | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.9719C>T (p.Pro3240Leu) | 5116 | PCNT | Uncertain significance | 138860570 | RCV000147249; | N | MedGen:C1859451,OMIM:210720 | 21 | 47863741 | 47863741 | NM_006031.5:c.9719C>T | NP_006022.3:p.Pro3240Leu | NC_000021.8:g.47863741C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.9740G>A (p.Arg3247Lys) | 5116 | PCNT | Uncertain significance | 587784323 | RCV000147251; | N | MedGen:C1859451,OMIM:210720 | 21 | 47863762 | 47863762 | NM_006031.5:c.9740G>A | NP_006022.3:p.Arg3247Lys | NC_000021.8:g.47863762G>A | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.9820T>G (p.Ser3274Ala) | 5116 | PCNT | Uncertain significance | 144044246 | RCV000147252; | N | MedGen:C1859451,OMIM:210720 | 21 | 47863842 | 47863842 | NM_006031.5:c.9820T>G | NP_006022.3:p.Ser3274Ala | NC_000021.8:g.47863842T>G | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |
NM_006031.5(PCNT):c.9968-3C>T | 5116 | PCNT | Uncertain significance | 182378192 | RCV000147253; | N | MedGen:C1859451,OMIM:210720 | 21 | 47865194 | 47865194 | NM_006031.5:c.9968-3C>T | | NC_000021.8:g.47865194C>T | - | C1859451 210720 Microcephalic osteodysplastic primordial dwarfism type 2 | | |