Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_017890.4(VPS13B):c.22_23delCCinsA (p.Pro8Lysfs) | 157680 | VPS13B | Likely pathogenic | 386834076 | RCV000050065; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100026038 | 100026039 | NM_017890.4:c.22_23delCCinsA | NP_060360.3:p.Pro8Lysfs | NC_000008.10:g.100026038_100026039delCCinsA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.219_220delACinsT (p.Lys73Asnfs) | 157680 | VPS13B | Likely pathogenic | 386834075 | RCV000050064; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100050722 | 100050723 | NM_017890.4:c.219_220delACinsT | NP_060360.3:p.Lys73Asnfs | NC_000008.10:g.100050722_100050723delACinsT | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.292-2A>G | 157680 | VPS13B | Likely pathogenic | 386834079 | RCV000050069; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100108538 | 100108538 | NM_017890.4:c.292-2A>G | | NC_000008.10:g.100108538A>G | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.404dupT (p.Leu135Phefs) | 157680 | VPS13B | Likely pathogenic | 386834083 | RCV000050074; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100108652 | 100108652 | NM_017890.4:c.404dupT | NP_060360.3:p.Leu135Phefs | NC_000008.10:g.100108652dupT | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.467_470delATAA (p.Asn156Ilefs) | 157680 | VPS13B | Likely pathogenic | 386834090 | RCV000050081; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100115235 | 100115238 | NM_017890.4:c.467_470delATAA | NP_060360.3:p.Asn156Ilefs | NC_000008.10:g.100115235_100115238delATAA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.626_627delCA (p.Thr209Serfs) | 157680 | VPS13B | Likely pathogenic | 386834100 | RCV000050093; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100123371 | 100123372 | NM_017890.4:c.626_627delCA | NP_060360.3:p.Thr209Serfs | NC_000008.10:g.100123371_100123372delCA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.916_917delGA (p.Asp306Tyrfs) | 157680 | VPS13B | Likely pathogenic | 386834117 | RCV000050111; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100128081 | 100128082 | NM_017890.4:c.916_917delGA | NP_060360.3:p.Asp306Tyrfs | NC_000008.10:g.100128081_100128082delGA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter) | 157680 | VPS13B | Likely pathogenic | 386834070 | RCV000050058; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100146872 | 100146872 | NM_017890.4:c.1219C>T | NP_060360.3:p.Gln407Ter | NC_000008.10:g.100146872C>T | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.1225G>T (p.Glu409Ter) | 157680 | VPS13B | Likely pathogenic | 386834071 | RCV000050059; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100146878 | 100146878 | NM_017890.4:c.1225G>T | NP_060360.3:p.Glu409Ter | NC_000008.10:g.100146878G>T | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.1269_1273delATTGT (p.Cys425Glyfs) | 157680 | VPS13B | Likely pathogenic | 386834072 | RCV000050060; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100146922 | 100146926 | NM_017890.4:c.1269_1273delATTGT | NP_060360.3:p.Cys425Glyfs | NC_000008.10:g.100146922_100146926delATTGT | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.1844-2A>G | 157680 | VPS13B | Likely pathogenic | 386834073 | RCV000050061; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100160067 | 100160067 | NM_017890.4:c.1844-2A>G | | NC_000008.10:g.100160067A>G | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.2047delC (p.Gln683Serfs) | 157680 | VPS13B | Likely pathogenic | 386834074 | RCV000050062; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100168810 | 100168810 | NM_017890.4:c.2047delC | NP_060360.3:p.Gln683Serfs | NC_000008.10:g.100168810delC | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.2074C>T (p.Arg692Ter) | 157680 | VPS13B | Likely pathogenic;Pathogenic | 180177356 | RCV000050063; RCV000058892; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100168837 | 100168837 | NM_017890.4:c.2074C>T | NP_060360.3:p.Arg692Ter | NC_000008.10:g.100168837C>T | - | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) | 157680 | VPS13B | Pathogenic | 140936527 | RCV000175340; RCV000081887; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100286501 | 100286501 | NM_017890.4:c.2591C>A | NP_060360.3:p.Ser864Ter | NC_000008.10:g.100286501C>A | - | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.2651-1G>A | 157680 | VPS13B | Likely pathogenic | 386834077 | RCV000050066; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100287308 | 100287308 | NM_017890.4:c.2651-1G>A | | NC_000008.10:g.100287308G>A | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.2727_2730dupGCTC (p.Asn911Alafs) | 157680 | VPS13B | Likely pathogenic;Pathogenic | 180177357 | RCV000050067; RCV000058893; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100287385 | 100287388 | NM_017890.4:c.2727_2730dupGCTC | NP_060360.3:p.Asn911Alafs | NC_000008.10:g.100287385_100287388dupGCTC | - | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) | 157680 | VPS13B | Likely pathogenic | 386834078 | RCV000050068; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100396500 | 100396500 | NM_017890.4:c.2889G>A | NP_060360.3:p.Trp963Ter | NC_000008.10:g.100396500G>A | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.2911C>T (p.Arg971Ter) | 157680 | VPS13B | Pathogenic | 120074152 | RCV000002957; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100396522 | 100396522 | NM_017890.4:c.2911C>T | NP_060360.3:p.Arg971Ter | NC_000008.10:g.100396522C>T | OMIM Allelic Variant:607817.0006 | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.2934+1_2934+2delGT | 157680 | VPS13B | Likely pathogenic;Pathogenic | 180177358 | RCV000050070; RCV000058894; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100396546 | 100396547 | NM_017890.4:c.2934+1_2934+2delGT | | NC_000008.10:g.100396546_100396547delGT | - | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.3348_3349delCT (p.Cys1117Phefs) | 157680 | VPS13B | Pathogenic | 180177327 | RCV000002952; RCV000058939; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100454766 | 100454767 | NM_017890.4:c.3348_3349delCT | NP_060360.3:p.Cys1117Phefs | NC_000008.10:g.100454766_100454767delCT | OMIM Allelic Variant:607817.0001 | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) | 157680 | VPS13B | Likely pathogenic | 386834080 | RCV000050071; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100454845 | 100454845 | NM_017890.4:c.3427C>T | NP_060360.3:p.Arg1143Ter | NC_000008.10:g.100454845C>T | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.3598C>T (p.Arg1200Ter) | 157680 | VPS13B | Pathogenic | 140353201 | RCV000176496; RCV000081893; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100479794 | 100479794 | NM_017890.4:c.3598C>T | NP_060360.3:p.Arg1200Ter | NC_000008.10:g.100479794C>T | - | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.3618T>A (p.Cys1206Ter) | 157680 | VPS13B | Likely pathogenic | 386834081 | RCV000050072; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100479814 | 100479814 | NM_017890.4:c.3618T>A | NP_060360.3:p.Cys1206Ter | NC_000008.10:g.100479814T>A | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.3666+2T>C | 157680 | VPS13B | Likely pathogenic | 386834082 | RCV000050073; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100479864 | 100479864 | NM_017890.4:c.3666+2T>C | | NC_000008.10:g.100479864T>C | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.4334delA (p.Gln1445Argfs) | 157680 | VPS13B | Likely pathogenic | 386834084 | RCV000050075; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100523366 | 100523366 | NM_017890.4:c.4334delA | NP_060360.3:p.Gln1445Argfs | NC_000008.10:g.100523366delA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.4396dupA (p.Thr1466Asnfs) | 157680 | VPS13B | Likely pathogenic | 386834085 | RCV000050076; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100523428 | 100523428 | NM_017890.4:c.4396dupA | NP_060360.3:p.Thr1466Asnfs | NC_000008.10:g.100523428dupA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter) | 157680 | VPS13B | Likely pathogenic | 386834086 | RCV000050077; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100523443 | 100523443 | NM_017890.4:c.4411C>T | NP_060360.3:p.Arg1471Ter | NC_000008.10:g.100523443C>T | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.4471G>T (p.Glu1491Ter) | 157680 | VPS13B | Pathogenic | 120074151 | RCV000002956; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100523503 | 100523503 | NM_017890.4:c.4471G>T | NP_060360.3:p.Glu1491Ter | NC_000008.10:g.100523503G>T | OMIM Allelic Variant:607817.0005 | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.4474delA (p.Ile1492Phefs) | 157680 | VPS13B | Likely pathogenic | 386834087 | RCV000050078; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100523506 | 100523506 | NM_017890.4:c.4474delA | NP_060360.3:p.Ile1492Phefs | NC_000008.10:g.100523506delA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.4480_4482delCTT (p.Leu1494del) | 157680 | VPS13B | Likely pathogenic | 386834088 | RCV000050079; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100523512 | 100523514 | NM_017890.4:c.4480_4482delCTT | NP_060360.3:p.Leu1494del | NC_000008.10:g.100523512_100523514delCTT | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.4572dupA (p.Glu1525Argfs) | 157680 | VPS13B | Likely pathogenic | 386834089 | RCV000050080; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100523604 | 100523604 | NM_017890.4:c.4572dupA | NP_060360.3:p.Glu1525Argfs | NC_000008.10:g.100523604dupA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.4820+2T>C | 157680 | VPS13B | Likely pathogenic | 386834091 | RCV000050082; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100533240 | 100533240 | NM_017890.4:c.4820+2T>C | | NC_000008.10:g.100533240T>C | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.4878_4880dupATA (p.Tyr1627_Gln1961delinsTer) | 157680 | VPS13B | Likely pathogenic;Pathogenic | 180177359 | RCV000050083; RCV000058895; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100568735 | 100568737 | NM_017890.4:c.4878_4880dupATA | NP_060360.3:p.Tyr1627_Gln1961delinsTer | NC_000008.10:g.100568735_100568737dupATA | - | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.4923G>A (p.Trp1641Ter) | 157680 | VPS13B | Likely pathogenic;Pathogenic | 180177360 | RCV000169432; RCV000058896; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100568780 | 100568780 | NM_017890.4:c.4923G>A | NP_060360.3:p.Trp1641Ter | NC_000008.10:g.100568780G>A | - | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter) | 157680 | VPS13B | Likely pathogenic | 386834093 | RCV000050204; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100587947 | 100587947 | NM_017890.4:c.5086C>T | NP_060360.3:p.Arg1696Ter | NC_000008.10:g.100587947C>T | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.5215_5232del18 (p.Ser1739_Gln1744del) | 157680 | VPS13B | Likely pathogenic;Pathogenic | 180177362 | RCV000050084; RCV000058898; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100589781 | 100589798 | NM_017890.4:c.5215_5232del18 | NP_060360.3:p.Ser1739_Gln1744del | NC_000008.10:g.100589781_100589798del18 | - | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.5331dupT (p.Asp1778Terfs) | 157680 | VPS13B | Likely pathogenic | 386834094 | RCV000050085; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100654074 | 100654074 | NM_017890.4:c.5331dupT | NP_060360.3:p.Asp1778Terfs | NC_000008.10:g.100654074dupT | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.5334dupT (p.Gly1779Trpfs) | 157680 | VPS13B | Likely pathogenic | 786204533 | RCV000169235; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100654077 | 100654077 | NM_017890.4:c.5334dupT | NP_060360.3:p.Gly1779Trpfs | NC_000008.10:g.100654077dupT | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.5426_5427dupAG (p.Gln1810Serfs) | 157680 | VPS13B | Likely pathogenic;Pathogenic | 180177363 | RCV000050086; RCV000058899; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100654169 | 100654170 | NM_017890.4:c.5426_5427dupAG | NP_060360.3:p.Gln1810Serfs | NC_000008.10:g.100654169_100654170dupAG | - | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.5461dupC (p.Arg1821Profs) | 157680 | VPS13B | Likely pathogenic;Pathogenic | 180177364 | RCV000050087; RCV000058900; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100654204 | 100654204 | NM_017890.4:c.5461dupC | NP_060360.3:p.Arg1821Profs | NC_000008.10:g.100654204dupC | - | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.5613_5614insT (p.Lys1872Terfs) | 157680 | VPS13B | Likely pathogenic | 386834095 | RCV000050088; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100654356 | 100654357 | NM_017890.4:c.5613_5614insT | NP_060360.3:p.Lys1872Terfs | NC_000008.10:g.100654356_100654357insT | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.5737dupA (p.Ile1913Asnfs) | 157680 | VPS13B | Likely pathogenic | 386834096 | RCV000050089; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100654480 | 100654480 | NM_017890.4:c.5737dupA | NP_060360.3:p.Ile1913Asnfs | NC_000008.10:g.100654480dupA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.5750delC (p.Ser1917Phefs) | 157680 | VPS13B | Likely pathogenic | 386834097 | RCV000050090; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100654493 | 100654493 | NM_017890.4:c.5750delC | NP_060360.3:p.Ser1917Phefs | NC_000008.10:g.100654493delC | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.5809_5810delAT (p.Ile1937Cysfs) | 157680 | VPS13B | Likely pathogenic | 386834098 | RCV000050091; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100654552 | 100654553 | NM_017890.4:c.5809_5810delAT | NP_060360.3:p.Ile1937Cysfs | NC_000008.10:g.100654552_100654553delAT | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter) | 157680 | VPS13B | Likely pathogenic | 386834099 | RCV000050092; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100654570 | 100654570 | NM_017890.4:c.5827C>T | NP_060360.3:p.Arg1943Ter | NC_000008.10:g.100654570C>T | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.5983+2dupT | 157680 | VPS13B | Pathogenic | 587777381 | RCV000119263; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100654728 | 100654728 | NM_017890.4:c.5983+2dupT | | | OMIM Allelic Variant:607817.0014 | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.6420_6421delGA (p.Gln2140Hisfs) | 157680 | VPS13B | Likely pathogenic | 386834101 | RCV000050094; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100712051 | 100712052 | NM_017890.4:c.6420_6421delGA | NP_060360.3:p.Gln2140Hisfs | NC_000008.10:g.100712051_100712052delGA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.6578T>G (p.Leu2193Arg) | 157680 | VPS13B | Pathogenic | 120074149 | RCV000002953; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100729447 | 100729447 | NM_017890.4:c.6578T>G | NP_060360.3:p.Leu2193Arg | NC_000008.10:g.100729447T>G | OMIM Allelic Variant:607817.0002 | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.6687delA (p.Gln2229Hisfs) | 157680 | VPS13B | Likely pathogenic | 386834102 | RCV000050095; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100729556 | 100729556 | NM_017890.4:c.6687delA | NP_060360.3:p.Gln2229Hisfs | NC_000008.10:g.100729556delA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.6732+1G>A | 157680 | VPS13B | Likely pathogenic;Pathogenic | 180177366 | RCV000050096; RCV000058902; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100729602 | 100729602 | NM_017890.4:c.6732+1G>A | | NC_000008.10:g.100729602G>A | - | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.6733-2A>G | 157680 | VPS13B | Likely pathogenic | 386834103 | RCV000050097; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100732571 | 100732571 | NM_017890.4:c.6733-2A>G | | NC_000008.10:g.100732571A>G | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.7022A>G (p.Tyr2341Cys) | 157680 | VPS13B | Likely pathogenic | 386834104 | RCV000050098; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100733172 | 100733172 | NM_017890.4:c.7022A>G | NP_060360.3:p.Tyr2341Cys | NC_000008.10:g.100733172A>G | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.7051C>T (p.Arg2351Ter) | 157680 | VPS13B | Pathogenic | 120074150 | RCV000002954; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100733201 | 100733201 | NM_017890.4:c.7051C>T | NP_060360.3:p.Arg2351Ter | NC_000008.10:g.100733201C>T | OMIM Allelic Variant:607817.0003 | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.7221delG (p.Gln2407Hisfs) | 157680 | VPS13B | Likely pathogenic | 386834105 | RCV000050099; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100779097 | 100779097 | NM_017890.4:c.7221delG | NP_060360.3:p.Gln2407Hisfs | NC_000008.10:g.100779097delG | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.7441G>A (p.Val2481Ile) | 157680 | VPS13B | Likely benign;Uncertain significance | 201963516 | RCV000169023; RCV000081912; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100789121 | 100789121 | NM_017890.4:c.7441G>A | NP_060360.3:p.Val2481Ile | NC_000008.10:g.100789121G>A | HGMD:CM1211526 | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.7504+1G>A | 157680 | VPS13B | Likely pathogenic | 386834106 | RCV000050100; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100789185 | 100789185 | NM_017890.4:c.7504+1G>A | | NC_000008.10:g.100789185G>A | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.7603C>T (p.Arg2535Ter) | 157680 | VPS13B | Likely pathogenic | 386834107 | RCV000050101; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100791008 | 100791008 | NM_017890.4:c.7603C>T | NP_060360.3:p.Arg2535Ter | NC_000008.10:g.100791008C>T | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.7610G>A (p.Trp2537Ter) | 157680 | VPS13B | Likely pathogenic | 386834108 | RCV000050102; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100791015 | 100791015 | NM_017890.4:c.7610G>A | NP_060360.3:p.Trp2537Ter | NC_000008.10:g.100791015G>A | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp) | 157680 | VPS13B | Pathogenic | 120074153 | RCV000002958; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100796622 | 100796622 | NM_017890.4:c.7934G>A | NP_060360.3:p.Gly2645Asp | NC_000008.10:g.100796622G>A | OMIM Allelic Variant:607817.0007 | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.7936delC (p.Gln2646Argfs) | 157680 | VPS13B | Likely pathogenic | 386834109 | RCV000050103; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100796624 | 100796624 | NM_017890.4:c.7936delC | NP_060360.3:p.Gln2646Argfs | NC_000008.10:g.100796624delC | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.8119C>T (p.Arg2707Ter) | 157680 | VPS13B | Likely pathogenic | 386834110 | RCV000050104; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100821705 | 100821705 | NM_017890.4:c.8119C>T | NP_060360.3:p.Arg2707Ter | NC_000008.10:g.100821705C>T | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.8341delC (p.Leu2781Terfs) | 157680 | VPS13B | Likely pathogenic | 386834111 | RCV000050105; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100829936 | 100829936 | NM_017890.4:c.8341delC | NP_060360.3:p.Leu2781Terfs | NC_000008.10:g.100829936delC | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.8459T>C (p.Ile2820Thr) | 157680 | VPS13B | Pathogenic | 120074155 | RCV000002961; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100830701 | 100830701 | NM_017890.4:c.8459T>C | NP_060360.3:p.Ile2820Thr | NC_000008.10:g.100830701T>C | OMIM Allelic Variant:607817.0010 | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.8472G>A (p.Trp2824Ter) | 157680 | VPS13B | Likely pathogenic | 386834112 | RCV000050106; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100830714 | 100830714 | NM_017890.4:c.8472G>A | NP_060360.3:p.Trp2824Ter | NC_000008.10:g.100830714G>A | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) | 157680 | VPS13B | Likely pathogenic | 386834113 | RCV000050107; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100830757 | 100830757 | NM_017890.4:c.8515C>T | NP_060360.3:p.Arg2839Ter | NC_000008.10:g.100830757C>T | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.8611delA (p.Thr2871Hisfs) | 157680 | VPS13B | Likely pathogenic | 386834114 | RCV000050108; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100831031 | 100831031 | NM_017890.4:c.8611delA | NP_060360.3:p.Thr2871Hisfs | NC_000008.10:g.100831031delA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.8697-9A>G | 157680 | VPS13B | Likely pathogenic | 386834116 | RCV000050110; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100831631 | 100831631 | NM_017890.4:c.8697-9A>G | | NC_000008.10:g.100831631A>G | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.8697-2A>G | 157680 | VPS13B | Likely pathogenic | 386834115 | RCV000050109; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100831638 | 100831638 | NM_017890.4:c.8697-2A>G | | NC_000008.10:g.100831638A>G | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.8945T>A (p.Leu2982Ter) | 157680 | VPS13B | Pathogenic | 727504219 | RCV000178693; RCV000154129; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100832226 | 100832226 | NM_017890.4:c.8945T>A | NP_060360.3:p.Leu2982Ter | NC_000008.10:g.100832226T>A | - | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) | 157680 | VPS13B | Benign;Pathogenic;Uncertain significance | 28940272 | RCV000002955; RCV000081920; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN169374 | 8 | 100832259 | 100832259 | NM_017890.4:c.8978A>G | NP_060360.3:p.Asn2993Ser | NC_000008.10:g.100832259A>G | HGMD:CM041280,OMIM Allelic Variant:607817.0004 | C0265223 216550 Cohen syndrome; CN169374 not specified | | |
NM_017890.4(VPS13B):c.8990G>A (p.Trp2997Ter) | 157680 | VPS13B | Pathogenic | 797046098 | RCV000192341; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100832271 | 100832271 | NM_017890.4:c.8990G>A | NP_060360.3:p.Trp2997Ter | NC_000008.10:g.100832271G>A | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs) | 157680 | VPS13B | Likely pathogenic;Pathogenic | 180177329 | RCV000002960; RCV000058940; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100836061 | 100836061 | NM_017890.4:c.9260dupT | NP_060360.3:p.Leu3087Phefs*20 | NC_000008.10:g.100836061dupT | OMIM Allelic Variant:607817.0009 | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.9406-1G>T | 157680 | VPS13B | Likely pathogenic | 386834119 | RCV000050112; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100844596 | 100844596 | NM_017890.4:c.9406-1G>T | | NC_000008.10:g.100844596G>C,NC_000008.10:g.100844596G>T | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.9406-1G>C | 157680 | VPS13B | Pathogenic | 386834119 | RCV000169632; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100844596 | 100844596 | NM_017890.4:c.9406-1G>C | | NC_000008.10:g.100844596G>C,NC_000008.10:g.100844596G>T | OMIM Allelic Variant:607817.0016 | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.9690-2A>G | 157680 | VPS13B | Likely pathogenic | 386834120 | RCV000050113; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100847423 | 100847423 | NM_017890.4:c.9690-2A>G | | NC_000008.10:g.100847423A>G | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.9706delT (p.Tyr3236Ilefs) | 157680 | VPS13B | Likely pathogenic | 386834121 | RCV000050114; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100847441 | 100847441 | NM_017890.4:c.9706delT | NP_060360.3:p.Tyr3236Ilefs | NC_000008.10:g.100847441delT | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.9731delA (p.Tyr3244Phefs) | 157680 | VPS13B | Likely pathogenic | 386834122 | RCV000050115; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100847466 | 100847466 | NM_017890.4:c.9731delA | NP_060360.3:p.Tyr3244Phefs | NC_000008.10:g.100847466delA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.10076_10077delCA (p.Thr3359Serfs) | 157680 | VPS13B | Likely pathogenic | 386834054 | RCV000050041; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100861062 | 100861063 | NM_017890.4:c.10076_10077delCA | NP_060360.3:p.Thr3359Serfs | NC_000008.10:g.100861062_100861063delCA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.10156dupA (p.Thr3386Asnfs) | 157680 | VPS13B | Likely pathogenic;Pathogenic | 386834055 | RCV000050042; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100865698 | 100865698 | NM_017890.4:c.10156dupA | NP_060360.3:p.Thr3386Asnfs | NC_000008.10:g.100865698dupA | Genome Clinic of Geneva,University Hospital of Geneva:14_April2016 | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.10240_10282del43 (p.Leu3414Valfs) | 157680 | VPS13B | Pathogenic | -1 | RCV000211543; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100865782 | 100865824 | NM_017890.4:c.10240_10282del43 | NP_060360.3:p.Leu3414Valfs | | Genome Clinic of Geneva,University Hospital of Geneva:13_April2016 | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.10841_10844delTCTC (p.Leu3614Profs) | 157680 | VPS13B | Likely pathogenic | 386834056 | RCV000050043; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100866383 | 100866386 | NM_017890.4:c.10841_10844delTCTC | NP_060360.3:p.Leu3614Profs | NC_000008.10:g.100866383_100866386delTCTC | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.10888C>T (p.Gln3630Ter) | 157680 | VPS13B | Pathogenic | 120074154 | RCV000002959; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100866430 | 100866430 | NM_017890.4:c.10888C>T | NP_060360.3:p.Gln3630Ter | NC_000008.10:g.100866430C>T | OMIM Allelic Variant:607817.0008 | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) | 157680 | VPS13B | Likely pathogenic | 386834057 | RCV000050044; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100871535 | 100871535 | NM_017890.4:c.10946G>A | NP_060360.3:p.Trp3649Ter | NC_000008.10:g.100871535G>A | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11119+2T>C | 157680 | VPS13B | Pathogenic | 587777382 | RCV000119264; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100871710 | 100871710 | NM_017890.4:c.11119+2T>C | | 8:g.100871710T>C | OMIM Allelic Variant:607817.0015 | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11125delC (p.Leu3709Serfs) | 157680 | VPS13B | Likely pathogenic | 386834058 | RCV000050045; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100874009 | 100874009 | NM_017890.4:c.11125delC | NP_060360.3:p.Leu3709Serfs | NC_000008.10:g.100874009delC | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11169_11172dupGGAC (p.Arg3725Glyfs) | 157680 | VPS13B | Likely pathogenic | 386834059 | RCV000050046; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100874053 | 100874056 | NM_017890.4:c.11169_11172dupGGAC | NP_060360.3:p.Arg3725Glyfs | NC_000008.10:g.100874053_100874056dupGGAC | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11216G>A (p.Trp3739Ter) | 157680 | VPS13B | Likely pathogenic | 386834060 | RCV000050047; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100874100 | 100874100 | NM_017890.4:c.11216G>A | NP_060360.3:p.Trp3739Ter | NC_000008.10:g.100874100G>A | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) | 157680 | VPS13B | Likely pathogenic | 386834061 | RCV000050048; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100880540 | 100880540 | NM_017890.4:c.11314C>T | NP_060360.3:p.Gln3772Ter | NC_000008.10:g.100880540C>T | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11453C>G (p.Ser3818Ter) | 157680 | VPS13B | Pathogenic | 794727771 | RCV000179226; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100880679 | 100880679 | NM_017890.4:c.11453C>G | NP_060360.3:p.Ser3818Ter | NC_000008.10:g.100880679C>G | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11505delA (p.Lys3835Asnfs) | 157680 | VPS13B | Likely pathogenic | 386834062 | RCV000050049; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100883050 | 100883050 | NM_017890.4:c.11505delA | NP_060360.3:p.Lys3835Asnfs | NC_000008.10:g.100883050delA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11556dupT (p.Val3853Cysfs) | 157680 | VPS13B | Likely pathogenic | 386834063 | RCV000050050; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100883101 | 100883101 | NM_017890.4:c.11556dupT | NP_060360.3:p.Val3853Cysfs | NC_000008.10:g.100883101dupT | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11564delA (p.Tyr3855Leufs) | 157680 | VPS13B | Likely pathogenic | 386834064 | RCV000050051; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100883109 | 100883109 | NM_017890.4:c.11564delA | NP_060360.3:p.Tyr3855Leufs | NC_000008.10:g.100883109delA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11598delA (p.Glu3867Lysfs) | 157680 | VPS13B | Likely pathogenic | 386834065 | RCV000050052; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100883703 | 100883703 | NM_017890.4:c.11598delA | NP_060360.3:p.Glu3867Lysfs | NC_000008.10:g.100883703delA | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11695_11698delAGTG (p.Ser3901Argfs) | 157680 | VPS13B | Likely pathogenic | 386834066 | RCV000050053; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100883800 | 100883803 | NM_017890.4:c.11695_11698delAGTG | NP_060360.3:p.Ser3901Argfs | NC_000008.10:g.100883800_100883803delAGTG | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11780_11784delCAGTGinsAA (p.Thr3927_Val3928delinsLys) | 157680 | VPS13B | Likely pathogenic | 386834067 | RCV000050054; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100883885 | 100883889 | NM_017890.4:c.11780_11784delCAGTGinsAA | NP_060360.3:p.Thr3927_Val3928delinsLys | NC_000008.10:g.100883885_100883889delCAGTGinsAA,NC_000008.10:g.100883885_1008838 | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11780_11784delCAGTGinsAGAA (p.Thr3927Lysfs) | 157680 | VPS13B | Likely pathogenic | 386834067 | RCV000169612; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100883885 | 100883889 | NM_017890.4:c.11780_11784delCAGTGinsAGAA | NP_060360.3:p.Thr3927Lysfs | NC_000008.10:g.100883885_100883889delCAGTGinsAA,NC_000008.10:g.100883885_1008838 | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11825_11827dupATG (p.Asp3942_Gly3943insAsp) | 157680 | VPS13B | Likely pathogenic;Uncertain significance | 386834068 | RCV000050055; RCV000081876; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100887650 | 100887652 | NM_017890.4:c.11825_11827dupATG | NP_060360.3:p.Asp3942_Gly3943insAsp | NC_000008.10:g.100887650_100887652dupATG | HGMD:CI110618 | C0265223 216550 Cohen syndrome; CN221809 not provided | | |
NM_017890.4(VPS13B):c.11906_11915delCCAGCTGTTC (p.Pro3969Leufs) | 157680 | VPS13B | Likely pathogenic | 386834069 | RCV000050056; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100887731 | 100887740 | NM_017890.4:c.11906_11915delCCAGCTGTTC | NP_060360.3:p.Pro3969Leufs | NC_000008.10:g.100887731_100887740delCCAGCTGTTC | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11906_11916delCCAGCTGTTCTinsG (p.Pro3969Argfs) | 157680 | VPS13B | Likely pathogenic | 786204456 | RCV000169093; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005 | 8 | 100887731 | 100887741 | NM_017890.4:c.11906_11916delCCAGCTGTTCTinsG | NP_060360.3:p.Pro3969Argfs | NC_000008.10:g.100887731_100887741delCCAGCTGTTCTinsG | - | C0265223 216550 Cohen syndrome | | |
NM_017890.4(VPS13B):c.11907dupC (p.Ser3970Glnfs) | 157680 | VPS13B | Likely pathogenic;Pathogenic | 180177374 | RCV000050057; RCV000058889; | N | MedGen:C0265223,OMIM:216550,ORPHA:193,SNOMED CT:56604005; MedGen:CN221809 | 8 | 100887732 | 100887732 | NM_017890.4:c.11907dupC | NP_060360.3:p.Ser3970Glnfs | NC_000008.10:g.100887732dupC | - | C0265223 216550 Cohen syndrome; CN221809 not provided | | |