Unique variants in the ARG1 gene

Information The variants shown are described using the NM_000045.3 transcript reference sequence.

102 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 _1 - r.(?) p.(=) - association g.131893559G>T - -864G>T - ARG1_000038 1 more item PubMed: Dumont 2007 - rs2781666 Germline - - - - - Johan den Dunnen
+/. 2 _1_1i c.-79_(57+1_58-1){0} r.0? p.0? - pathogenic (recessive) g.(?_131894344)_(131894480_131897802)del - del ex1 - ARG1_000070 no variant 2nd chromosome PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 2i_8_ c.58-399_*424{0} r.0? p.0? - pathogenic (recessive) g.131897404_131908155del - del ex2-8 - ARG1_000097 - PubMed: Korman 2004 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.2T>C r.? p.(Met1?) - pathogenic (recessive) g.131894424T>C - Met1Thr - ARG1_000099 - PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.23T>A r.(?) p.(Ile8Lys) - pathogenic (recessive) g.131894445T>A - - - ARG1_000059 - PubMed: Amayreh 2014, PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/., +?/. 7 1 c.32T>C r.(?) p.(Ile11Thr) - likely pathogenic, NA, pathogenic (recessive) g.131894454T>C g.131573314T>C - - ARG1_000011 E.coli expression cloning yields 0.12 protein activity PubMed: Cai 2018, PubMed: Carvalho 2012, PubMed: Lee 2011, PubMed: Uchino 1995, OMIM:var0008, 1 more item - rs28941474 Germline - - - - - Johan den Dunnen
+/. 2 - c.34G>T r.(?) p.(Gly12*) - pathogenic (recessive) g.131894456G>T - - - ARG1_000082 - PubMed: Wu 2013, PubMed: Zhang 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.53G>A r.(?) p.(Gly18Glu) - pathogenic (recessive) g.131894475G>A - - - ARG1_000077 - PubMed: Wu 2015 - - Germline - - - - - Johan den Dunnen
+/. 2 1i c.57+1G>A r.spl, r.spl? p.? - pathogenic, pathogenic (recessive) g.131894480G>A g.131573340G>A IVS1+1G>A - ARG1_000013 - PubMed: Uchino 1995, OMIM:var0010 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.58-3C>G r.spl? p.? - pathogenic (recessive) g.131897800C>G - IVS1-3C>G - ARG1_000056 - PubMed: Diez-Fernandez 2018, PubMed: Dorum 2021 - - Germline - - - - - Johan den Dunnen
+/. 17 2 c.61C>T r.(?), r.(spl?) p.(Arg21*) - pathogenic (recessive) g.131897806C>T g.131576666C>T - - ARG1_000015 - Rodrigues 2014, PubMed: Diez-Fernandez 2018, PubMed: Cardoso 1999, OMIM:var0011, PubMed: Carvalho 2012, 2 more items - - Germline - - NlaIII+ - - Johan den Dunnen
-/. 1 2 c.62G>A r.(?) p.(Arg21Gln ) - benign g.131897807G>A g.131576667G>A - - ARG1_000001 - PubMed: Mitchell 2009 - - Germline - 1/94 - - - Johan den Dunnen
+/. 1 - c.70del r.(?) p.(Val24Trpfs*8) - pathogenic (recessive) g.131897815del - 67delG - ARG1_000080 - PubMed: Wu 2013 - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.78del r.(?) p.(Gly27Alafs*5), p.(Gly27AlafsTer5) - pathogenic (recessive) g.131897823del g.131576683del - - ARG1_000005 - PubMed: Haraguchi 1990, OMIM:var0002, PubMed: Segawa 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.80G>A r.(?) p.(Gly27Asp) - pathogenic (recessive) g.131897825G>A - - - ARG1_000074 - PubMed: Carvalho 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.93del r.(?) p.(Arg32Glufs*16) - pathogenic (recessive) g.131897838del g.131576698del 93delG - ARG1_000041 - PubMed: Hertecant 2009 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.121_122insCTT r.(?) p.(Lys41_Lys322delinsThr) - pathogenic (recessive) g.131897866_131897867insCTT - - - ARG1_000052 - PubMed: Nakajima 2021 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.124G>T r.(?) p.(Glu42*) - pathogenic (recessive) g.131897869G>T - - - ARG1_000086 - PubMed: Zhang 2017 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.130+1G>A r.spl p.? - pathogenic (recessive) g.131897876G>A - - - ARG1_000089 - PubMed: Huemer 2016 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.132_146del r.(?) p.(Glu44_Lys48del) - pathogenic (recessive) g.131900252_131900266del - Glu44_Lys48del - ARG1_000062 - PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.206A>T r.(?) p.(Asn69Ile) - pathogenic (recessive) g.131900326A>T - - - ARG1_000083 - Mullane 2017, PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.212G>C r.(?) p.(Arg71Thr) - pathogenic (recessive) g.131900332G>C - - - ARG1_000085 - PubMed: Zhang 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.221G>T r.(?) p.(Gly74Val) - pathogenic (recessive) g.131900341G>T - - - ARG1_000073 - PubMed: Carvalho 2012 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.223A>T -, r.(?) p.(Lys75*), p.Lys75* - NA, pathogenic (recessive) g.131900343A>T - K75X - ARG1_000039 cDNA expression cloning E.coli arginase activity <0.01 PubMed: Edwards 2009, PubMed: Vockley 1996 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 - c.231C>A r.(?) p.(Ser77Arg) - pathogenic (recessive) g.131900351C>A - - - ARG1_000087 - Mustafa 2012, PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.231C>T r.(?) p.(Ser77=) - likely benign g.131900351C>T g.131579211C>T ARG1(NM_001244438.1):c.255C>T (p.S85=) - ARG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.232dup r.(?) p.(Glu78Glyfs*40) - pathogenic (recessive) g.131900352dup - 232dupG - ARG1_000076 - PubMed: Wu 2015 - - Germline - - - - - Johan den Dunnen
+/. 3 3 c.263_266del r.(?) p.(Lys88Argfs*45) - pathogenic (recessive) g.131900383_131900386del g.131579243_131579246del 263-266delAGAA - ARG1_000050 - PubMed: Cui 2020, PubMed: Cui 2021, PubMed: Haraguchi 1990, OMIM:var0001, PubMed: Segawa 2011 - - Germline - - - - - Johan den Dunnen
-/. 4 3 c.270C>T r.(?) p.(=), p.(Asn90=) - benign g.131900390C>T g.131579250C>T Asn90Asn, 1 more item - ARG1_000002 VKGL data sharing initiative Nederland PubMed: Mitchell 2009 - rs34504481 CLASSIFICATION record, Germline - 5/94 - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC
+/. 1 - c.282C>G r.(?) p.(Ser94Arg) - pathogenic (recessive) g.131900402C>G - - - ARG1_000060 - PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.292G>A r.(?) p.(Gly98Ser) - pathogenic (recessive) g.131900412G>A - - - ARG1_000046 - PubMed: Jain-Ghai 2011 - - Germline - - - - - Johan den Dunnen
+/. 4 - c.295G>A r.(?) p.(Gly99Arg) - pathogenic (recessive) g.131900415G>A - - - ARG1_000061 - PubMed: Diez-Fernandez 2018, PubMed: Huemer 2016 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.298G>A r.(?) p.(Asp100Asn) - pathogenic (recessive) g.131900418G>A - - - ARG1_000051 - PubMed: Nakajima 2021, PubMed: Zhang 2017 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.301_302delinsGG - p.His101Gly - NA g.131900421_131900422delinsGG - H101G - ARG1_000093 cDNA expression cloning E.coli arginase activity <0.01 PubMed: Vockley 1996 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 2 3i c.306-611T>C r.305_306ins306-620_306-496del p.Leu103fs - pathogenic (recessive) g.131901748T>C - 305+1323t > c - ARG1_000096 - PubMed: Cohen 2012 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.316G>C r.(?) p.(Gly106Arg) - pathogenic (recessive) g.131902369G>C - - - ARG1_000092 - Kuster 2015, PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.336C>A r.(?) p.(Ala112=) - likely benign g.131902389C>A - - - ARG1_000068 - PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/. 6 4 c.365G>A -, r.(?) p.(Trp122*), p.Trp122* - NA, pathogenic, pathogenic (recessive) g.131902418G>A g.131581278G>A W122X - ARG1_000008 no in vivo RBC arginase activity (<0.01) PubMed: Amayreh 2014, PubMed: Carvalho 2012, PubMed: Uchino 1992, OMIM:var0005, PubMed: Vockley 1994, 2 more items - - Germline, In vitro (cloned) yes - - - - Johan den Dunnen
+/. 1 - c.374C>T r.(?) p.(Ala125Val) - pathogenic (recessive) g.131902427C>T - - - ARG1_000078 - PubMed: Wu 2013 - - Germline - - - - - Johan den Dunnen
+/. 7 - c.383A>G -, r.(?) p.(Asp128Gly), p.Asp128Gly - NA, pathogenic (recessive) g.131902436A>G g.131581296A>G 382A>G, D128G - ARG1_000033 1 more item PubMed: Diez-Fernandez 2018, PubMed: Huemer 2016, PubMed: Vockley 1994, PubMed: Vockley 1996 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 2 - c.386_388del -, r.(?) p.(Ile129del), p.Ile129del - NA, pathogenic (recessive) g.131902439_131902441del g.131581299_131581301del dI129, Ile129del - ARG1_000036 cDNA expression cloning E.coli arginase activity <0.01 PubMed: Vockley 1996 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 7 - c.404C>T r.(?) p.(Thr135Ile) - pathogenic (recessive) g.131902457C>T - T134I - ARG1_000090 - PubMed: Carvalho 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.413G>T r.(?) p.(Gly138Val) - pathogenic g.131902466G>T g.131581326G>T - - ARG1_000012 - PubMed: Uchino 1995, OMIM:var0009 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.422A>T -, r.(?) p.(His141Leu), p.His141Leu - NA, pathogenic (recessive) g.131902475A>T g.131581335A>T 421A>T, H141L - ARG1_000034 no in vivo RBC arginase activity (<0.05) PubMed: Vockley 1994, PubMed: Vockley 1996 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 - c.425G>A r.(?) p.(Gly142Glu) - pathogenic (recessive) g.131902478G>A - - - ARG1_000040 - PubMed: Edwards 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.434T>A r.(?) p.(Val145Glu) - pathogenic (recessive) g.131902487T>A g.131581347T>A NM_001244438 .1:c.458T>A - ARG1_000057 - PubMed: Elsayed 2020 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.446T>C r.(?) p.(Leu149Pro) - pathogenic (recessive) g.131902499T>C - - - ARG1_000063 - PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.465+1G>C r.spl? p.? - pathogenic g.131902519G>C - ARG1(NM_000045.3):c.465+1G>C - ARG1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 5i c.466-31A>C r.(?) p.(=) - benign g.131903730A>C g.131582590A>C - - ARG1_000003 - PubMed: Mitchell 2009 - - Germline - 1/94 - - - Johan den Dunnen
+/. 2 4i c.466-2A>G r.spl p.? - pathogenic (recessive) g.131903759A>G g.131582619A>G IVS4-2A>G - ARG1_000014 - PubMed: Schiff 2009, PubMed: Uchino 1995, OMIM:var0011 - - Germline - - - - - Johan den Dunnen
+/. 5 4i c.466-1G>C r.465_466ins[466-51_466-2;c], r.spl p.?, p.Ile156fs - pathogenic (recessive) g.131903760G>C - 490-1G>C - ARG1_000045 - PubMed: Diez-Fernandez 2018, PubMed: Huemer 2016, PubMed: Jain-Ghai 2011, PubMed: Villegas-Ruiz 2015 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.486C>A r.(?) p.(Phe162Leu) - likely benign g.131903781C>A - ARG1(NM_001244438.1):c.510C>A (p.F170L) - ARG1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.523del r.(?) p.(Val175Cysfs*5) - pathogenic (recessive) g.131903818del - 523delG - ARG1_000075 - PubMed: Carvalho 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.539G>C r.(?) p.(Arg180Thr) - pathogenic (recessive) g.131903834G>C - - - ARG1_000079 - PubMed: Wu 2013 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.551del r.(?) p.(Pro184Leufs*7) - pathogenic (recessive) g.131903846del - 551delC - ARG1_000071 - PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.560+5G>A r.spl? p.? - likely pathogenic (recessive) g.131903860G>A - - - ARG1_000047 - PubMed: Jain-Ghai 2011 - - Germline - - - - - Johan den Dunnen
-/. 1 5i c.560+115_560+116dup r.(=) p.(=) - benign g.131903970_131903971dup - (CA)9 - ARG1_000035 - PubMed: Vockley 1994 - - Germline - - - - - Johan den Dunnen
?/. 2 - c.561-9C>G r.(=), r.(?) p.(=), p.(?) - VUS g.131904191C>G - - - ARG1_000066 - PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.603_604del r.(?) p.(Glu202Serfs*30) - pathogenic (recessive) g.131904242_131904243del - 603_604delTG - ARG1_000088 - PubMed: Huemer 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.646_649del r.(?) p.(Leu216Alafs*4) - pathogenic (recessive) g.131904285_131904288del - 646-649delCTCA - ARG1_000081 - PubMed: Wu 2013 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.647T>C r.(?) p.(Leu216Pro) - likely pathogenic (recessive) g.131904286T>C - - - ARG1_000053 - PubMed: Cui 2020, PubMed: Cui 2021 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.647_648insN[32] r.(?) p.? - pathogenic (recessive) g.131904286_131904287insN[32] - 647_648ins32 - ARG1_000049 - PubMed: Scholl-Burgi 2008, PubMed: Huemer 2016 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.666-2A>G r.spl p.? - pathogenic (recessive) g.131904493A>G - - - ARG1_000091 - PubMed: Huemer 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.673del r.(?) p.(Arg225Glyfs*5) - pathogenic (recessive) g.131904502del - 673delA - ARG1_000098 - PubMed: Tsang 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.682C>G r.(?) p.(His228Asp) - pathogenic (recessive) g.131904511C>G - - - ARG1_000064 - PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.682_683delinsGG - p.His228Gly - NA g.131904511_131904512delinsGG - H228G - ARG1_000094 cDNA expression cloning E.coli normal arginase activity PubMed: Vockley 1996 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 3 - c.700G>C r.(?) p.(Asp234His) - pathogenic (recessive) g.131904529G>C - - - ARG1_000043 - PubMed: Jain-Ghai 2011 - - Germline yes - - - - Johan den Dunnen
+/. 14 - c.703G>A r.(?) p.(Gly235Arg) - pathogenic (recessive) g.131904532G>A GACTGGACC 703_707delGGACTinsAGACTGGACC, G235R+c.712ins[GGACC]2 - ARG1_000037 - PubMed: Diez-Fernandez 2018, PubMed: Dorum 2021, PubMed: Häberle and Koch 2004, PubMed: Huemer 2016, 3 more items - - Germline - - - - - Johan den Dunnen
+/. 4 7 c.703G>C r.(?) p.(Gly235Arg) - NA, pathogenic, pathogenic (recessive) g.131904532G>C g.131583392G>C - - ARG1_000009 E.coli expression cloning yields less then 0.01 protein activity PubMed: Uchino 1992, OMIM:var0006, PubMed: Uchino 1995 - - Germline - - - - - Johan den Dunnen
+/. 5 - c.708_712dup r.(?) p.(Pro238Argfs*17) - pathogenic (recessive) g.131904537_131904541dup - 703_707delGGACTinsAGACTGGACC, G235R+c.712ins[GGACC]2 - ARG1_000065 - PubMed: Diez-Fernandez 2018, PubMed: Häberle and Koch 2004, PubMed: Huemer 2016, PubMed: Yucel 2018 - - Germline - - - - - Johan den Dunnen
+/., ?/. 2 - c.798A>C r.(?) p.(Lys266Asn) - pathogenic (recessive), VUS g.131904627A>C g.131583487A>C ARG1(NM_001244438.2):c.822A>C (p.K274N), MED23(NM_015979.3):c.4095+4222T>G - ARG1_000016 VKGL data sharing initiative Nederland PubMed: Diez-Fernandez 2018 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 - c.802+2T>G r.spl p.? - pathogenic (recessive) g.131904633T>G - - - ARG1_000069 - PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.820G>A r.(?) p.(Asp274Asn) - pathogenic (recessive) g.131904899G>A - - - ARG1_000100 - PubMed: Yokoi 2021 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.837C>A r.(?) p.(Asn279Lys) - pathogenic (recessive) g.131904916C>A - - - ARG1_000084 - Mullane 2017, PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 8 c.844del r.(?) p.(Leu282TrpfsTer8) - pathogenic (recessive) g.131904923del g.131583783del 842delC - ARG1_000010 - PubMed: Uchino 1992, OMIM:var0007 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.849del r.(?) p.(Lys284Argfs*6) - pathogenic (recessive) g.131904928del - 849delG - ARG1_000072 - PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.866dup r.(?) p.(Thr290Asnfs*22) - pathogenic (recessive) g.131904945dup - 866dupT - ARG1_000055 - PubMed: Dorum 2021 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.868_869delinsGG - p.Thr290Gly - NA g.131904947_131904948delinsGG - T290G - ARG1_000095 cDNA expression cloning E.coli normal arginase activity PubMed: Vockley 1996 - - In vitro (cloned) - - - - - Johan den Dunnen
+/., ?/. 3 8 c.869C>G -, r.(?) p.(Thr290Ser), p.Thr290Ser - NA, pathogenic (recessive), VUS g.131904948C>G g.131583808C>G R291X - ARG1_000007 1 more item PubMed: Grody 1992, OMIM:var0004, PubMed: Klein 1991, PubMed: Vockley 1996 - - Germline, In vitro (cloned) - - (TaqI-) - - Johan den Dunnen
+/. 2 8 c.871C>G r.(?) p.(Arg291*) - NA, pathogenic (recessive) g.131904950C>G g.131583810C>G - - ARG1_000006 E.coli expression cloning yields less then 0.01 protein activity PubMed: Grody 1992, OMIM:var0003, PubMed: Uchino 1995 - - Germline - - - - - Johan den Dunnen
+/. 3 - c.871C>T -, r.(?) p.(Arg291*), p.Arg291* - NA, pathogenic (recessive) g.131904950C>T - K75X - ARG1_000048 no in vivo RBC arginase activity (0.0) PubMed: Diez-Fernandez 2018, PubMed: Scholl-Burgi 2008, PubMed: Huemer 2016, PubMed: Vockley 1996 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 - c.877del r.(?) p.(Val293*) - pathogenic (recessive) g.131904956del - 877delG - ARG1_000067 - PubMed: Diez-Fernandez 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.892G>C r.(?) p.(Ala298Pro) - pathogenic (recessive) g.131904971G>C - 892C>G (A289P) - ARG1_000044 - PubMed: Jain-Ghai 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.913G>A r.(?) p.(Gly305Arg) - pathogenic (recessive) g.131904992G>A - - - ARG1_000042 - PubMed: Lee 2011 - - Germline - - - - - Johan den Dunnen
+/. 5 - c.923G>A r.(?) p.(Arg308Gln) - pathogenic (recessive) g.131905002G>A - g131905002_131905002G>A - ARG1_000054 - PubMed: Bakirtzis 2021, PubMed: Carvalho 2012, PubMed: Dorum 2021 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.*9184A>G r.(=) p.(=) - benign g.131914232A>G g.131593092A>G MED23(NM_004830.4):c.3312T>C (p.A1104=) - MED23_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.*10223T>C r.(=) p.(=) - VUS g.131915271T>C g.131594131T>C - - MED23_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*10433A>G r.(=) p.(=) - likely benign g.131915481A>G g.131594341A>G MED23(NM_001270521.1):c.2996-6T>C (p.(=)) - ARG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*10434A>C r.(=) p.(=) - VUS g.131915482A>C g.131594342A>C MED23(NM_001270521.1):c.2996-7T>G (p.(=)) - MED23_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*12693G>A r.(=) p.(=) - VUS g.131917741G>A g.131596601G>A MED23(NM_004830.4):c.2695C>T (p.R899*) - MED23_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.*14483A>G r.(=) p.(=) - VUS g.131919531A>G g.131598391A>G MED23(NM_004830.4):c.2503T>C (p.S835P) - ARG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*18352G>A r.(=) p.(=) - VUS g.131923400G>A g.131602260G>A MED23(NM_001270521.1):c.2053C>T (p.(Arg685Ter)) - MED23_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*18463T>C r.(=) p.(=) - likely benign g.131923511T>C g.131602371T>C MED23(NM_001270521.1):c.1942A>G (p.(Thr648Ala)) - ARG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.*19221C>T r.(=) p.(=) - pathogenic g.131924269C>T g.131603129C>T MED23(NM_004830.4):c.1832G>A (p.R611Q) - MED23_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.*20283G>C r.(=) p.(=) - VUS g.131925331G>C g.131604191G>C MED23(NM_004830.4):c.1743C>G (p.I581M) - ARG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*26260C>A r.(=) p.(=) - VUS g.131931308C>A g.131610168C>A MED23(NM_004830.4):c.955G>T (p.E319*) - ARG1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*39456C>A r.(=) p.(=) - VUS g.131944504C>A g.131623364C>A - - MED23_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.*41006G>A r.(=) p.(=) - VUS g.131946054G>A g.131624914G>A MED23(NM_004830.4):c.235C>T (p.L79F) - MED23_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*43780_*43782del r.(=) p.(=) - VUS g.131948828_131948830del g.131627688_131627690del MED23(NM_001270521.1):c.40-7_40-5del (p.?) - ARG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*43780_*43782dup r.(=) p.(=) - likely benign g.131948828_131948830dup g.131627688_131627690dup MED23(NM_001270521.1):c.40-5_40-4insTTT (p.?) - ARG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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