Full data view for gene FAM20C

Information The variants shown are described using the NM_020223.3 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_10_ c.(-156720_-148270)_(863+21018_*223785)del r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(36480_44930)_(229994_523731)del g.(36480_44930)_(229994_483765)del - 7p22.3(hg 19; 36480-523731)x0 7p22.3(hg19;44930-229994)x1 FAM20C_000062 487kb deletion PubMed: Ababneh 2013 - - Germline - - - - - DNA arrayCGH - - RNS patient PubMed: Ababneh 2013 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents M - Saudi Arabia - 00y08m - - - 1 Johan den Dunnen
+/. _1_3_ c.(?_-181)_(863+1_?)del r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(?_193019)_(208977_?(del g.(?_193019)_(208977_?)del - - FAM20C_000082 - PubMed: Whyte 2017 - - Germline - - - - - DNA SEQ - - ? patient Whyte 1985 Abs ASHG 37:A82, PubMed: Whyte 2017 2-generation family, 2 affected sisters, unaffected parents F - United States - - - - - 2 Johan den Dunnen
+/. - c.0 r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.pter_(4500001_7300000)delins(4500001_7300000)_qterinv g.pter_(4500001_7200000)delins(4500001_7200000)_qterinv 45,XY psudic (7;7) (p22;p22) - FAM20C_000040 FISH probe RP11-90P13 deleted PubMed: Simpson 2007 - - Uniparental disomy, paternal allele - - - - - DNA SEQ - - RNS Pat1 PubMed: Simpson 2007 - M no - - <10d - - - 1 Johan den Dunnen
+/. _1_10_ c.0 r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.pter_qterdel g.pter_qterdel - - FAM20C_000040 - PubMed: Simpson 2007 - - De novo - - - - - DNA SEQ - - RNS Pat1 PubMed: Simpson 2007 - M no - - <10d - - - 1 Johan den Dunnen
-?/. - c.6G>A r.(?) p.(=) Unknown - likely benign g.193205G>A - FAM20C(NM_020223.4):c.6G>A (p.K2=) - FAM20C_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23G>A r.(?) p.(Arg8Gln) Unknown - likely benign g.193222G>A g.193222G>A FAM20C(NM_020223.4):c.23G>A (p.R8Q) - FAM20C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.46G>T r.(?) p.(Val16Leu) Unknown - likely benign g.193245G>T g.193245G>T FAM20C(NM_020223.3):c.46G>T (p.(Val16Leu)), FAM20C(NM_020223.4):c.46G>T (p.V16L) - FAM20C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.46G>T r.(?) p.(Val16Leu) Unknown - likely benign g.193245G>T - FAM20C(NM_020223.3):c.46G>T (p.(Val16Leu)), FAM20C(NM_020223.4):c.46G>T (p.V16L) - FAM20C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.55G>T r.(?) p.(Val19Leu) Unknown - likely benign g.193254G>T g.193254G>T FAM20C(NM_020223.3):c.55G>T (p.(Val19Leu)) - FAM20C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66G>A r.(?) p.(=) Unknown - likely benign g.193265G>A - FAM20C(NM_020223.4):c.66G>A (p.(Ala22=)) - FAM20C_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.117A>T r.(?) p.(=) Unknown - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ-NG-I blood Whole-exome sequencing retinal disease - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.200C>A r.(?) p.(Pro67His) Unknown - likely benign g.193399C>A g.193399C>A FAM20C(NM_020223.3):c.200C>A (p.(Pro67His)) - FAM20C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202G>T r.(?) p.(Gly68Trp) Unknown - VUS g.193401G>T g.193401G>T FAM20C(NM_020223.3):c.202G>T (p.(Gly68Trp)) - FAM20C_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.307_308dup r.(?) p.(Ser104ArgfsTer27) Paternal (confirmed) ACMG pathogenic (recessive) g.193506_193507dup g.193506_193507dup - - FAM20C_000056 variant 2nd chromosome not reported - - - Germline - - - - - DNA SEQ-NG - - RNS - - - F - - - - - - - 1 Ewelina Łazarczyk
+/. - c.456del r.(?) p.(Gly153Alafs*34) Both (homozygous) - pathogenic (recessive) g.193655del g.193655del 456delC - FAM20C_000065 - PubMed: El-Dessouky 2020 - - Germline - - - - - DNA SEQ - - RNS Pat1 PubMed: El-Dessouky 2020 2-generation family, affected fetus, unaffected heterozygous carrier first-cousin parents M yes Egypt - - - - - 1 Johan den Dunnen
+?/. - c.456dup r.(456dup) p.(Gly153Argfs*56) Maternal (confirmed) - pathogenic (recessive) g.193655dup g.193655dup - - FAM20C_000031 - - - - Germline - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Carmen Palacios-Reyes
+/. - c.456dup r.(?) p.(Gly153Argfs*56) Maternal (confirmed) - pathogenic (recessive) g.193655dup g.193655dup 456dupC - FAM20C_000031 - PubMed: Hernandez-Zavala 2020 - - Germline yes - - - - DNA SEQ - - RNS FamPatII1/2 PubMed: Hernandez-Zavala 2020 2-generation family, affected brother/fetus (2M), unaffected heterozygous carrier parents M - Mexico - - - - - 2 Johan den Dunnen
+/. - c.474del r.(?) p.(Ser159Profs*28) Paternal (confirmed) - pathogenic (recessive) g.193673del g.193673del 474delC - FAM20C_000071 - PubMed: Hernandez-Zavala 2020 - - Germline yes - - - - DNA SEQ - - RNS FamPatII1/2 PubMed: Hernandez-Zavala 2020 2-generation family, affected brother/fetus (2M), unaffected heterozygous carrier parents M - Mexico - - - - - 2 Johan den Dunnen
+/. - c.496G>T r.(?) p.(Glu166*) Both (homozygous) - pathogenic (recessive) g.193695G>T g.193695G>T - - FAM20C_000074 ACMG PVS1, PM2, PP4 PubMed: Mameli 2020 - - Germline - - - - - DNA SEQ-NG - WES RNS Pat3 PubMed: Mameli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - 1 Johan den Dunnen
?/. - c.565G>T r.(?) p.(Asp189Tyr) Unknown - VUS g.193764G>T - FAM20C(NM_020223.4):c.565G>T (p.D189Y) - FAM20C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646G>A r.(?) p.(Gly216Arg) Unknown - likely benign g.195594G>A g.195594G>A FAM20C(NM_020223.3):c.646G>A (p.(Gly216Arg)) - FAM20C_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.646G>A r.(?) p.(Gly216Arg) Parent #1 - benign g.195594G>A g.195594G>A - - FAM20C_000023 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61734970 Germline - 21/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 21 Mohammed Faruq
+/. - c.676T>A r.(?) p.(Trp226Arg) Both (homozygous) - pathogenic (recessive) g.195624T>A g.195624T>A - - FAM20C_000068 - PubMed: Elalaoui 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES KTZS FamPatIII7/8/10;Pat6/7 PubMed: Elalaoui 2016, PubMed: Mameli 2020 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F;M yes Morocco - - - - - 3 Johan den Dunnen
-?/. - c.733G>A r.(?) p.(Ala245Thr) Unknown - likely benign g.195681G>A g.195681G>A FAM20C(NM_020223.3):c.733G>A (p.(Ala245Thr)) - FAM20C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.773T>A r.(?) p.(Ile258Asn) Maternal (inferred) - pathogenic (recessive) g.195721T>A g.195721T>A 731T>A (Ile244Asn) - FAM20C_000043 - PubMed: Simpson 2009 - - De novo - - - - - DNA SEQ - - RNS Case2 PubMed: Simpson 2009 2-generation family, 1 affected, unaffected heterozygous carrier fsther M no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i c.784+5G>C r.606_784del p.Trp202CysfsTer37 Both (homozygous) - pathogenic (recessive) g.195737G>C g.195737G>C - - FAM20C_000063 - PubMed: Acevedo 2015 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES RNS Fam1PatIV4/5/6 PubMed: Acevedo 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Brazil - - - - - 3 Johan den Dunnen
+/. - c.796C>T r.(?) p.(Arg266Cys) Unknown - pathogenic (recessive) g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR - - HD, MLC - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.803C>T r.(?) p.(Thr268Met) Maternal (confirmed) - pathogenic (recessive) g.208916C>T g.208916C>T - - FAM20C_000075 - PubMed: Rafaelsen 2013 - - Germline - - - - - DNA SEQ - WES RNS patient PubMed: Rafaelsen 2013 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Norway - - - - - 2 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Gly280Arg) Paternal (confirmed) - pathogenic (recessive) g.208951G>A g.208951G>A 796G>A (Gly266Arg) - FAM20C_000042 - PubMed: Simpson 2009 - - Germline - - - - - DNA SEQ - - RNS Case2 PubMed: Simpson 2009 2-generation family, 1 affected, unaffected heterozygous carrier fsther M no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.863+5G>C r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.208981G>C g.208981G>C - - FAM20C_000069 - PubMed: Eltan 2020 - - Germline - - - - - DNA SEQ - - RNS patient PubMed: Eltan 2020 - M no Turkey - - - - - 1 Johan den Dunnen
?/. - c.895T>A r.(?) p.(Phe299Ile) Unknown - VUS g.286412T>A g.246446T>A FAM20C(NM_020223.3):c.895T>A (p.(Phe299Ile)) - FAM20C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.905del r.(?) p.(Phe302Serfs*35) Both (homozygous) - pathogenic (recessive) g.286422del g.246456del 905delT - FAM20C_000066 - PubMed: El-Dessouky 2020 - - Germline - - - - - DNA SEQ - - RNS Pat2 PubMed: El-Dessouky 2020 2-generation family, affected fetus (one of a twin), unaffected heterozygous carrier first-cousin parents F - Egypt - - - - - 1 Johan den Dunnen
+/. - c.906C>A r.(?) p.(Phe302Leu) Parent #1 - pathogenic (recessive) g.286423C>A g.246457C>A - - FAM20C_000077 - PubMed: Rolvien 2018 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Rolvien 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany - - - - - 1 Johan den Dunnen
+/. - c.915C>A r.(?) p.(Tyr305*) Paternal (confirmed) - pathogenic (recessive) g.286432C>A g.246466C>A - - FAM20C_000076 - PubMed: Rafaelsen 2013 - - Germline - - - - - DNA SEQ - WES RNS patient PubMed: Rafaelsen 2013 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Norway - - - - - 2 Johan den Dunnen
+?/. 4_4i c.952_956+30dup r.(?) p.(?,=) Both (homozygous) - VUS g.286469_286503dup g.246503_246537dup - - FAM20C_000078 - PubMed: Rolvien 2018 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Rolvien 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany - - - - - 1 Johan den Dunnen
-?/. - c.953_956+30dup r.spl? p.? Unknown - likely benign g.286470_286503dup g.246504_246537dup FAM20C(NM_020223.3):c.953_956+30dup (p.(Ile320Ter)), FAM20C(NM_020223.4):NULL, FAM20C(NM_020223.4):c.956+5_956+6ins34, FAM20C(NM_020223.4):c.957_95... - FAM20C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.953_956+30dup r.spl? p.? Unknown - likely benign g.286470_286503dup g.246504_246537dup FAM20C(NM_020223.3):c.953_956+30dup (p.(Ile320Ter)), FAM20C(NM_020223.4):NULL, FAM20C(NM_020223.4):c.956+5_956+6ins34, FAM20C(NM_020223.4):c.957_95... - FAM20C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.953_956+30dup r.spl? p.? Unknown - likely benign g.286470_286503dup g.246504_246537dup FAM20C(NM_020223.3):c.953_956+30dup (p.(Ile320Ter)), FAM20C(NM_020223.4):NULL, FAM20C(NM_020223.4):c.956+5_956+6ins34, FAM20C(NM_020223.4):c.957_95... - FAM20C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.953_956+30dup r.spl? p.? Unknown - benign g.286470_286503dup - FAM20C(NM_020223.3):c.953_956+30dup (p.(Ile320Ter)), FAM20C(NM_020223.4):NULL, FAM20C(NM_020223.4):c.956+5_956+6ins34, FAM20C(NM_020223.4):c.957_95... - FAM20C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.956G>A r.(?) p.(Arg319Lys) Parent #1 - likely pathogenic (recessive) g.286473G>A g.246507G>A - - FAM20C_000084 - PubMed: Boissel 2017 - - Germline - - - - - DNA SEQ-NG - WES ? 051-022-CYB PubMed: Boissel 2017 - M - Canada - - - - - 1 Johan den Dunnen
+?/. - c.956+5G>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.286478G>C g.246512G>C 914+5G>C - FAM20C_000032 - PubMed: Simpson 2007 - - Germline - - - - - DNA SEQ - - RNS Pat7 PubMed: Simpson 2007 - F no - - <10d - - - 1 Johan den Dunnen
+?/. - c.957-3C>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.288278C>G g.248312C>G 915-3C>G - FAM20C_000037 - PubMed: Simpson 2007 - - Germline - - - - - DNA SEQ - - RNS Pat4 PubMed: Simpson 2007, PubMed: Al-Gazali 2003 - M no United Arab Emirates - >00y00m10d - - - 1 Johan den Dunnen
+/. - c.982C>T r.(?) p.(Pro328Ser) Both (homozygous) - pathogenic (recessive) g.288306C>T g.248340C>T 940C>T (Pro314Ser) - FAM20C_000044 - PubMed: Fradin 2011 - - Germline - - - - - DNA SEQ - - RNS FamPatII1/2 PubMed: Fradin 2011 2-generation family, 2 affected sister, unaffected heterozygous carrier parents F yes France - - - - - 2 Johan den Dunnen
-?/. - c.999G>A r.(?) p.(Met333Ile) Unknown - likely benign g.288323G>A g.248357G>A FAM20C(NM_020223.3):c.999G>A (p.(Met333Ile)) - FAM20C_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1007T>G r.(?) p.(Met336Arg) Both (homozygous) - pathogenic (recessive) g.288331T>G g.248365T>G - - FAM20C_000083 - PubMed: Hung 2019 - - Germline - - - - - DNA SEQ - - RNS patient PubMed: Hung 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Ecuador - - - - - 1 Johan den Dunnen
?/. - c.1018A>G r.(?) p.(Ile340Val) Unknown - VUS g.288342A>G - FAM20C(NM_020223.3):c.1018A>G (p.(Ile340Val)) - FAM20C_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1021C>T r.(?) p.(Arg341Trp) Unknown - VUS g.288345C>T - FAM20C(NM_020223.4):c.1021C>T (p.(Arg341Trp)) - FAM20C_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1071A>G r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.288395A>G g.248429A>G g.58464A>G - FAM20C_000061 - - - - Germline yes - - - - DNA SEQ-NG-I Blood - Reticular dysgenesis Toraman - - F yes Turkey Turkish - - yes - 1 Bayram Toraman
+/. - c.1094G>A r.(?) p.(Gly365Asp) Paternal (confirmed) - pathogenic (recessive) g.295836G>A g.255870G>A - - FAM20C_000081 - PubMed: Whyte 2017 - - Germline - - - - - DNA SEQ - - ? patient Whyte 1985 Abs ASHG 37:A82, PubMed: Whyte 2017 2-generation family, 2 affected sisters, unaffected parents F - United States - - - - - 2 Johan den Dunnen
+/. - c.1108_1112dup r.(?) p.(Ser372Thrfs*60) Parent #1 - pathogenic (recessive) g.295850_295854dup g.255884_255888dup 1107_1108insTACTG - FAM20C_000072 - PubMed: Mamedova 2019 - - Germline - - - - - DNA SEQ-NG - WES RNS patient PubMed: Mamedova 2019 - F - Russian Federation Armenia - - - - 1 Johan den Dunnen
?/. - c.1118C>T r.(?) p.(Thr373Met) Unknown - VUS g.295860C>T g.255894C>T FAM20C(NM_020223.3):c.1118C>T (p.(Thr373Met)) - FAM20C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1135G>A r.(?) p.(Gly379Arg) Both (homozygous) - pathogenic (recessive) g.295877G>A g.255911G>A 1093G>A (Gly365Arg) - FAM20C_000038 - PubMed: Simpson 2007 - - Germline - - - - - DNA SEQ - - RNS Pat3 PubMed: Simpson 2007 - M yes - - <10d - - - 1 Johan den Dunnen
+/. - c.1135G>A r.(?) p.(Gly379Arg) Both (homozygous) - pathogenic (recessive) g.295877G>A g.255911G>A - - FAM20C_000038 - Journal: Mahmood 2014, PubMed: Mameli 2020 - - Germline - - - - - DNA SEQ - - RNS patient;Pat5 Journal: Mahmood 2014, PubMed: Mameli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1136G>A r.(?) p.(Gly379Glu) Parent #1 - pathogenic (recessive) g.295878G>A g.255912G>A 1094G>A (Gly365Glu) - FAM20C_000034 - PubMed: Simpson 2007 - - Germline - - - - - DNA SEQ - - RNS Pat6 PubMed: Simpson 2007 - F no - - >10d - - - 1 Johan den Dunnen
+/. - c.1163T>G r.(?) p.(Leu388Arg) Both (homozygous) - pathogenic (recessive) g.295905T>G g.255939T>G 1121T>G (Leu374Arg) - FAM20C_000036 - PubMed: Simpson 2007 - - Germline - - - - - DNA SEQ - - RNS Pat5 PubMed: Simpson 2007, PubMed: Hulskamp 2003 2-generation family, 3 affected sibs, unaffected heterozygous carrier parents F yes Germany Turkey <00y00m10d - - - 3 Johan den Dunnen
?/. - c.1182C>G r.(?) p.(Asp394Glu) Unknown - VUS g.295924C>G - FAM20C(NM_020223.3):c.1182C>G (p.(Asp394Glu)) - FAM20C_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1219T>G r.(?) p.(Trp407Gly) Both (homozygous) - pathogenic (recessive) g.295961T>G g.255995T>G - - FAM20C_000079 - PubMed: Tamai 2017 - - Germline - - - - - DNA SEQ - - RNS patient PubMed: Tamai 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.295964C>T g.255998C>T - - FAM20C_000080 - PubMed: Takeyari 2014 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Takeyari 2014 2-generation family, 1 affected, unaffected heterozygous carrier first-cousin parents M yes Japan - - - - - 1 Johan den Dunnen
+/. - c.1225C>T r.(?) p.(Arg409Cys) Both (homozygous) - pathogenic (recessive) g.295967C>T g.256001C>T NM_020223.3:c.1225C>T:p.(Arg409Cys) - FAM20C_000045 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 09DG00774 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
+/. - c.1225C>T r.(?) p.(Arg409Cys) Both (homozygous) - pathogenic (recessive) g.295967C>T g.256001C>T - - FAM20C_000045 - PubMed: Seidahmed 2015 - - Germline yes - - - - DNA SEQ - - RNS patient PubMed: Seidahmed 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 3 Johan den Dunnen
-?/. - c.1228T>A r.(?) p.(Ser410Thr) Unknown - likely benign g.295970T>A - FAM20C(NM_020223.3):c.1228T>A (p.(Ser410Thr)), FAM20C(NM_020223.4):c.1228T>A (p.S410T) - FAM20C_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1228T>A r.(?) p.(Ser410Thr) Unknown - VUS g.295970T>A - FAM20C(NM_020223.3):c.1228T>A (p.(Ser410Thr)), FAM20C(NM_020223.4):c.1228T>A (p.S410T) - FAM20C_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1228T>A r.(?) p.(Ser410Thr) Unknown - benign g.295970T>A - FAM20C(NM_020223.3):c.1228T>A (p.(Ser410Thr)), FAM20C(NM_020223.4):c.1228T>A (p.S410T) - FAM20C_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1228T>A r.(?) p.(Ser410Thr) Both (homozygous) - pathogenic (!) g.295970T>A g.256004T>A - - FAM20C_000050 later paper reports another pathogenic variant (c.1672C>T) PubMed: Sheth 2018 SCV000583504.1 rs148276213 Germline - - - - - DNA SEQ-NG - WES RNS Pat1;Pat4 PubMed: Sheth 2018, PubMed: Mameli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - 1 Johan den Dunnen
?/. - c.1241G>A r.(?) p.(Arg414His) Unknown - VUS g.295983G>A g.256017G>A FAM20C(NM_020223.3):c.1241G>A (p.(Arg414His)) - FAM20C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1255T>C r.(?) p.(Trp419Arg) Both (homozygous) - pathogenic (recessive) g.296621T>C g.256655T>C - - FAM20C_000070 - PubMed: Eras 2021 - - Germline - - - - - DNA SEQ - - RNS patient PubMed: Eras 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.1351G>A r.(?) p.(Asp451Asn) Both (homozygous) - pathogenic (recessive) g.296717G>A g.256751G>A 1309G>A (Asp437Asn) - FAM20C_000041 - PubMed: Simpson 2009 - - Germline - - - - - DNA SEQ - - RNS Case1 PubMed: Simpson 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1351G>A r.(?) p.(Asp451Asn) Both (homozygous) - pathogenic (recessive) g.296717G>A g.256751G>A - - FAM20C_000041 - PubMed: Mameli 2020 - - Germline - - - - - DNA SEQ - - RNS Pat1 PubMed: Mameli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Italy Pakistan - - - - 1 Johan den Dunnen
+/. - c.1351G>A r.(?) p.(Asp451Asn) Both (homozygous) - pathogenic (recessive) g.296717G>A g.256751G>A - - FAM20C_000041 - PubMed: Mameli 2020 - - Germline - - - - - DNA SEQ-NG - WES RNS Pat2 PubMed: Mameli 2020 2-generation family, 2 affected, unaffected heterozygous carrier parents M yes Italy Pakistan - - - - 2 Johan den Dunnen
?/. - c.1363+5G>A r.spl? p.? Unknown - VUS g.296734G>A g.256768G>A FAM20C(NM_020223.3):c.1363+5G>A (p.?) - FAM20C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1364-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.296969A>G g.257003A>G 1322-2A>G - FAM20C_000035 - PubMed: Simpson 2007 - - Germline - - - - - DNA SEQ - - RNS Pat6 PubMed: Simpson 2007 - F no - - >10d - - - 1 Johan den Dunnen
+/. - c.1375C>G r.(?) p.(Arg459Gly) Parent #2 - pathogenic (recessive) g.296982C>G g.257016C>G - - FAM20C_000073 - PubMed: Mamedova 2019 - - Germline - - - - - DNA SEQ-NG - WES RNS patient PubMed: Mamedova 2019 - F - Russian Federation Armenia - - - - 1 Johan den Dunnen
?/. - c.1376G>A r.(?) p.(Arg459His) Unknown - VUS g.296983G>A - FAM20C(NM_020223.4):c.1376G>A (p.(Arg459His)) - FAM20C_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1446-1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.298611G>A g.258645G>A 1404-1G>A - FAM20C_000033 - PubMed: Simpson 2007 - - Germline - - - - - DNA SEQ - - RNS Pat7 PubMed: Simpson 2007 - F no - - <10d - - - 1 Johan den Dunnen
+/. - c.1487C>T r.(?) p.(Pro496Leu) Both (homozygous) - pathogenic (recessive) g.298653C>T g.258687C>T - - FAM20C_000064 - PubMed: Acevedo 2015 - - Germline yes - - - - DNA SEQ - - RNS Fam2PatVI1/2 PubMed: Acevedo 2015 6-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Brazil - - - - - 2 Johan den Dunnen
+?/. - c.1528C>T r.(?) p.(Arg510Cys) Parent #2 - likely pathogenic (recessive) g.299719C>T g.259753C>T - - FAM20C_000085 - PubMed: Boissel 2017 - - Germline - - - - - DNA SEQ-NG - WES ? 051-022-CYB PubMed: Boissel 2017 - M - Canada - - - - - 1 Johan den Dunnen
?/. - c.1529G>A r.(?) p.(Arg510His) Unknown - VUS g.299720G>A - FAM20C(NM_020223.3):c.1529G>A (p.(Arg510His)) - FAM20C_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1557C>G r.(?) p.(Tyr519*) Both (homozygous) - pathogenic (recessive) g.299748C>G g.259782C>G - - FAM20C_000067 - PubMed: El-Dessouky 2020 - - Germline - - - - - DNA SEQ - - RNS Pat3 PubMed: El-Dessouky 2020 2-generation family, affected fetus, unaffected heterozygous carrier first-cousin parents M yes Egypt - - - - - 1 Johan den Dunnen
-?/. - c.1559A>G r.(?) p.(Lys520Arg) Unknown - likely benign g.299750A>G - FAM20C(NM_020223.4):c.1559A>G (p.K520R) - FAM20C_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1643G>A r.(?) p.(Arg548Gln) Unknown - VUS g.299834G>A - FAM20C(NM_020223.3):c.1643G>A (p.(Arg548Gln)) - FAM20C_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1645C>T r.(?) p.(Arg549Trp) Both (homozygous) - pathogenic (recessive) g.299836C>T g.259870C>T 1603C>T (Arg535Trp) - FAM20C_000039 - PubMed: Simpson 2007 - - Germline - - - - - DNA SEQ - - RNS Pat2 PubMed: Simpson 2007, PubMed: Kingston 1991 - M yes United Kingdom (Great Britain) - <00y00m10d - - - 1 Johan den Dunnen
+/. - c.1645C>T r.(?) p.(Arg549Trp) Paternal (confirmed) - pathogenic (recessive) g.299836C>T g.259870C>T - - FAM20C_000039 - PubMed: Eltan 2020 - - Germline - - - - - DNA SEQ - - RNS patient PubMed: Eltan 2020 - M no Turkey - - - - - 1 Johan den Dunnen
-?/. - c.1652G>A r.(?) p.(Arg551His) Unknown - likely benign g.299843G>A g.259877G>A FOXL3(NM_001374838.1):NULL - FAM20C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1654G>A r.(?) p.(Val552Ile) Unknown - VUS g.299845G>A g.259879G>A FAM20C(NM_020223.3):c.1654G>A (p.(Val552Ile)) - FAM20C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1659G>T r.(?) p.(Val553=) Unknown - benign g.299850G>T g.259884G>T FAM20C(NM_020223.4):c.1659G>T (p.V553=) - FAM20C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1672C>T r.(?) p.(Arg558Trp) Unknown - benign g.299863C>T g.259897C>T FOXL3(NM_001374838.1):NULL - FAM20C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1672C>T r.(?) p.(Arg558Trp) Unknown - VUS g.299863C>T g.259897C>T - - FAM20C_000011 - PubMed: Thiele 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HR Pat3 PubMed: Thiele 2020 - F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.1672C>T r.(?) p.(Arg558Trp) Both (homozygous) - likely benign g.299863C>T g.259897C>T - - FAM20C_000011 - PubMed: Acevedo 2015 - rs62644536 Germline - - - - - DNA SEQ - - RNS Fam2PatVI1/2 PubMed: Acevedo 2015 6-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Brazil - - - - - 2 Johan den Dunnen
+/. - c.1672C>T r.(?) p.(Arg558Trp) Both (homozygous) - pathogenic (recessive) g.299863C>T g.259897C>T - 1630C>T (Arg544Trp) FAM20C_000011 original paper reports variant c.1228T>A as pathogenic PubMed: Mameli 2020 - - Germline - - - - - DNA SEQ-NG - WES RNS Pat1;Pat4 PubMed: Sheth 2018, PubMed: Mameli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - 1 Johan den Dunnen
+/. - c.1672C>T r.(?) p.(Arg558Trp) Both (homozygous) - pathogenic (recessive) g.299863C>T g.259897C>T 1630C>T - FAM20C_000011 - PubMed: Kochar 2010 - - Germline - - - - - DNA SEQ - - RNS patient PubMed: Kochar 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes India - - - - - 1 Johan den Dunnen
+/. 10 c.1680C>A r.(?) p.(Cys560*) Both (homozygous) ACMG likely pathogenic (recessive) g.299871C>A g.259905C>A - - FAM20C_000047 - PubMed: Bajaj 2021 SCV000608281.1 - Germline - - - - - DNA SEQ-NG Germline-DNA extracted from peripheral blood Clinical-exome-sequencing (CES) at an average depth of 100x RNS patient PubMed: Bajaj 2021 2-generation family, 1 affected, unaffected parents F no India India 00y17m - - - 1 Wei-Hong Lai
+/. - c.1680C>A r.(?) p.(Cys560*) Both (homozygous) - pathogenic (recessive) g.299871C>A g.259905C>A - - FAM20C_000047 - PubMed: Lulla 2021 - - Germline - - - - - DNA SEQ-NG - WES RNS patient PubMed: Lulla 2021 - F - India - - - - - 1 Johan den Dunnen
-?/. - c.1681G>A r.(?) p.(Val561Met) Unknown - likely benign g.299872G>A g.259906G>A FAM20C(NM_020223.3):c.1681G>A (p.(Val561Met)) - FAM20C_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1690A>C r.(?) p.(Asn564His) Unknown - VUS g.299881A>C - FAM20C(NM_020223.4):c.1690A>C (p.N564H) - FAM20C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1690A>G r.(?) p.(Asn564Asp) Unknown - benign g.299881A>G g.259915A>G FAM20C(NM_020223.4):c.1690A>G (p.N564D) - FAM20C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1690A>G r.(?) p.(Asn564Asp) Unknown - VUS g.299881A>G g.259915A>G - - FAM20C_000012 - PubMed: Thiele 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HR Pat3 PubMed: Thiele 2020 - F - Germany - - - - - 1 Johan den Dunnen
?/. - c.1705G>A r.(?) p.(Val569Met) Unknown - VUS g.299896G>A - FAM20C(NM_020223.4):c.1705G>A (p.(Val569Met)) - FAM20C_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1717G>A r.(?) p.(Asp573Asn) Unknown - VUS g.299908G>A - FAM20C(NM_020223.4):c.1717G>A (p.(Asp573Asn)) - FAM20C_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1741G>A r.(?) p.(Ala581Thr) Unknown - likely benign g.299932G>A - FAM20C(NM_020223.3):c.1741G>A (p.(Ala581Thr)) - FAM20C_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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