Full data view for gene SMO

Information The variants shown are described using the NM_005631.4 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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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     
./. - c.-7828929_*6721667del r.0? p.0? Unknown - pathogenic g.121000064_135573959del - - - IMPDH1_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.-50670_332-2504del r.0? p.0? Maternal (confirmed) - likely pathogenic (recessive) g.128778323_128840721del g.129138234_129200632del g.128778292_128840690del - SMO_000017 - PubMed: Le 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES PAP Fam2PatII1 (P2) PubMed: Le 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - - - - 2 Sophie Thomas
?/. - c.64_69dup r.(?) p.(Leu22_Leu23dup) Unknown - VUS g.128829056_128829061dup - SMO(NM_005631.5):c.64_69dupCTGCTG (p.L22_L23dup) - SMO_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67_69del r.(?) p.(Leu23del) Unknown - VUS g.128829059_128829061del - SMO(NM_005631.5):c.67_69del (p.(Leu23del)) - SMO_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.115_138del r.(?) p.(Pro39_Gly46del) Unknown - VUS g.128829107_128829130del - SMO(NM_005631.5):c.115_138del (p.(Pro39_Gly46del)) - SMO_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.125G>A r.(?) p.(Arg42Gln) Unknown - likely benign g.128829117G>A g.129189276G>A SMO(NM_005631.4):c.125G>A (p.(Arg42Gln)) - SMO_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160G>A r.(?) p.(Val54Met) Unknown - likely benign g.128829152G>A - SMO(NM_005631.4):c.160G>A (p.V54M) - SMO_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.280G>A r.(?) p.(Gly94Arg) Unknown - VUS g.128829272G>A - SMO(NM_005631.4):c.280G>A (p.G94R) - SMO_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385G>A r.(?) p.(Val129Ile) Unknown - VUS g.128843278G>A - SMO(NM_005631.5):c.385G>A (p.(Val129Ile)) - SMO_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.412C>T r.(?) p.(Arg138Trp) Unknown - VUS g.128843305C>T - SMO(NM_005631.5):c.412C>T (p.(Arg138Trp)) - SMO_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481C>T r.(?) p.(Arg161Trp) Unknown - VUS g.128843374C>T g.129203533C>T SMO(NM_005631.5):c.481C>T (p.R161W) - SMO_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.485G>T r.(?) p.(Gly162Val) Unknown - VUS g.128843378G>T g.129203537G>T SMO(NM_005631.5):c.485G>T (p.G162V) - SMO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.502C>G r.(?) p.(Arg168Gly) Unknown - VUS g.128843395C>G g.129203554C>G - - SMO_000008 - - - - Germline/De novo (untested) - - - - - DNA SEQ Blood - OSTEOSARCOMA #10 - - M no Brazil - 31y - - - 1 Raissa Andrade
?/. - c.503G>A r.(?) p.(Arg168His) Parent #1 - VUS g.128843396G>A g.129203555G>A - - SMO_000012 no interpretation available; 246 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61746143 Germline - 246/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 246 Mohammed Faruq
?/. - c.503G>A r.(?) p.(Arg168His) Both (homozygous) - VUS g.128843396G>A g.129203555G>A - - SMO_000012 no interpretation available; 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61746143 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
+/. - c.562_565del r.(?) p.(Asn188Valfs*113) Unknown - pathogenic g.128845068_128845071del - SMO(NM_005631.4):c.562_565delAACA (p.N188Vfs*113) - SMO_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.567_570del r.(?) p.(Ser189Argfs*112) Unknown - pathogenic g.128845073_128845076del - SMO(NM_005631.4):c.567_570delTTCA (p.S189Rfs*112) - SMO_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.735G>A r.(?) p.(Thr245=) Unknown - likely benign g.128845241G>A - SMO(NM_005631.4):c.735G>A (p.T245=) - SMO_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.781C>T r.(?) p.(Arg261Cys) Paternal (confirmed) - likely pathogenic (recessive) g.128845484C>T g.129205643C>T - - SMO_000016 - PubMed: Le 2020 - - Germline yes - - - - DNA SEQ-NG - WES PAP Fam1PatII1 (P1) PubMed: Le 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - 03y - - - 1 Sophie Thomas
-?/. - c.808G>A r.(?) p.(Val270Ile) Unknown - likely benign g.128845511G>A g.129205670G>A SMO(NM_005631.4):c.808G>A (p.(Val270Ile)) - SMO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.819C>T r.(?) p.(Cys273=) Unknown - likely benign g.128845522C>T g.129205681C>T SMO(NM_005631.4):c.819C>T (p.C273=) - SMO_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1199G>A r.(1199g>a) p.(Arg400His) Parent #1 ACMG likely pathogenic (recessive) g.128846363G>A - - - SMO_000028 - - - - Germline yes - - - - DNA SEQ-NG-I - - Healthy/Control I-1 - 2-generation family, 2 affected, unaffected heterozygous carrier parents; father M - - - - - - - 4 Michael Hildebrand
+?/. - c.1199G>A r.(1199g>a) p.(Arg400His) Paternal (confirmed) ACMG likely pathogenic g.128846363G>A g.129206522G>A - - SMO_000028 - - - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG-I - - PHS II-1 - son M - - - - - - - 1 Michael Hildebrand
+?/. - c.1199G>A r.(1199g>a) p.(Arg400His) Paternal (confirmed) ACMG likely pathogenic g.128846363G>A - - - SMO_000028 - - - - Germline yes - - - - DNA PCR, SEQ, SEQ-NG-I - - PHS II-2 - daughter F - - - - - - - 1 Michael Hildebrand
-?/. - c.1203G>C r.(?) p.(Ala401=) Unknown - likely benign g.128846367G>C - SMO(NM_005631.4):c.1203G>C (p.A401=) - SMO_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1234C>T r.(?) p.(Leu412Phe) Unknown - pathogenic g.128846398C>T g.129206557C>T - - SMO_000001 somatic mosaicism up to 0.11 PubMed: Twigg 2016, Journal: Twigg 2016, OMIM:var0003 - rs879255280 Somatic - - - - - DNA SEQ, SEQ-NG - - CRJS - PubMed: Twigg 2016, Journal: Twigg 2016 - F - - - - - - - 1 Johan den Dunnen
+/. 6 c.1234C>T r.(?) p.(Leu412Phe) Unknown - pathogenic g.128846398C>T g.129206557C>T - - SMO_000001 somatic mosaicism up to 0.24 PubMed: Twigg 2016, Journal: Twigg 2016, OMIM:var0003 - rs879255280 Somatic - - - - - DNA SEQ, SEQ-NG - - CRJS - PubMed: Twigg 2016, Journal: Twigg 2016 - M - - - - - - - 1 Johan den Dunnen
+/. 6 c.1234C>T r.(?) p.(Leu412Phe) Unknown - pathogenic g.128846398C>T g.129206557C>T - - SMO_000001 somatic mosaicism up to 0.14 PubMed: Twigg 2016, Journal: Twigg 2016, OMIM:var0003 - rs879255280 Somatic - - - - - DNA SEQ, SEQ-NG - - CRJS - PubMed: Twigg 2016, Journal: Twigg 2016 - M - - - - - - - 1 Johan den Dunnen
+/. 6 c.1234C>T r.(?) p.(Leu412Phe) Unknown - pathogenic g.128846398C>T g.129206557C>T - - SMO_000001 somatic mosaicism up to 0.20 PubMed: Twigg 2016, Journal: Twigg 2016, OMIM:var0003 - rs879255280 Somatic - - - - - DNA SEQ, SEQ-NG - - CRJS - PubMed: Twigg 2016, Journal: Twigg 2016 - M - - - - - - - 1 Johan den Dunnen
+/. 6 c.1234C>T r.(?) p.(Leu412Phe) Unknown - pathogenic g.128846398C>T g.129206557C>T - - SMO_000001 somatic mosaicism up to 0.13 PubMed: Twigg 2016, Journal: Twigg 2016, OMIM:var0003 - rs879255280 Somatic - - - - - DNA SEQ, SEQ-NG - - CRJS - PubMed: Twigg 2016, Journal: Twigg 2016 - M - - - - - - - 1 Johan den Dunnen
+/. 6 c.1234C>T r.(?) p.(Leu412Phe) Unknown - pathogenic g.128846398C>T g.129206557C>T - - SMO_000001 somatic mosaicism up to 0.04 PubMed: Twigg 2016, Journal: Twigg 2016, OMIM:var0003 - rs879255280 Somatic - - - - - DNA SEQ, SEQ-NG - - CRJS - PubMed: Twigg 2016, Journal: Twigg 2016 - M - - - - - - - 1 Johan den Dunnen
+/. 6 c.1234C>T r.(?) p.(Leu412Phe) Unknown - pathogenic g.128846398C>T g.129206557C>T - - SMO_000001 somatic mosaicism up to 0.09 PubMed: Twigg 2016, Journal: Twigg 2016, OMIM:var0003 - rs879255280 Somatic - - - - - DNA SEQ, SEQ-NG - - CRJS - PubMed: Twigg 2016, Journal: Twigg 2016 - F - - - - - - - 1 Johan den Dunnen
+/. 6 c.1234C>T r.(?) p.(Leu412Phe) Unknown - pathogenic g.128846398C>T g.129206557C>T - - SMO_000001 somatic mosaicism up to 0.33 PubMed: Twigg 2016, Journal: Twigg 2016, OMIM:var0003 - rs879255280 Somatic - - - - - DNA SEQ, SEQ-NG - - CRJS - PubMed: Twigg 2016, Journal: Twigg 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1234C>T r.(?) p.(Leu412Phe) Unknown - pathogenic (dominant) g.128846398C>T g.129206557C>T - - SMO_000001 - PubMed: Lee 2019 ClinVar-000930574.1 - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, fibroblast WES ? Pat14 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.1276_1277del r.(?) p.(Leu426Valfs*13) Unknown - likely pathogenic g.128848611_128848612del - SMO(NM_005631.4):c.1276_1277delCT (p.L426Vfs*13) - SMO_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1276_1277del r.(?) p.(Leu426ValfsTer13) Unknown - VUS g.128848611_128848612del g.129208770_129208771del 1274_1275del - SMO_000031 - - - - Somatic - - - - - DNA SEQ-NG-I - WES hamartoma T1094 - - M - - - - - - - 1 Michael Hildebrand
+?/. - c.1285A>T r.[1285a>u,1265_1290del] p.[Ile429Phe,Gly422Glufs∗9] Both (homozygous) - likely pathogenic (recessive) g.128848620A>T g.129208779A>T - - SMO_000018 - PubMed: Le 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES PAP Fam3PatII1 (P4) PubMed: Le 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes France - - - - - 1 Sophie Thomas
+?/. - c.1339G>T r.(?) p.(Glu447*) Maternal (confirmed) - likely pathogenic (recessive) g.128848674G>T g.129208833G>T - - SMO_000015 - PubMed: Le 2020 - - Germline yes - - - - DNA SEQ-NG - WES PAP Fam1PatII1 (P1) PubMed: Le 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - 03y - - - 1 Sophie Thomas
+/. - c.1416C>T r.[1416C>U, 1358_1466del] p.[Tyr472Tyr, Gly453AspfsTer6] Parent #2 ACMG likely pathogenic g.128849188C>T - - - SMO_000029 - - - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG-I - - Healthy/Control I-2 - mother F - - - - - - - 1 Michael Hildebrand
+/. - c.1416C>T r.[1416c>u,1358_1466del] p.[Tyr472Tyr,Gly453AspfsTer6] Maternal (confirmed) ACMG likely pathogenic g.128849188C>T g.129209347C>T - - SMO_000029 - - - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG-I - - PHS II-1 - son M - - - - - - - 1 Michael Hildebrand
+/. - c.1416C>T r.[1416c>u,1358_1466del] p.[Tyr472Tyr,Gly453AspfsTer6] Maternal (confirmed) ACMG likely pathogenic g.128849188C>T g.129209347C>T - - SMO_000029 - - - - Germline yes - - - - DNA PCR, SEQ, SEQ-NG-I - - PHS II-2 - daughter F - - - - - - - 1 Michael Hildebrand
+?/. - c.1453C>G r.(?) p.(Arg485Gly) Unknown - VUS g.128849225C>G g.129209384C>G - - SMO_000033 - - - - Germline - - - - - DNA SEQ-NG-I - WES hamartoma T1094 - - M - - - - - - - 1 Michael Hildebrand
+/. - c.1611G>A r.(?) p.(Trp537*) Unknown - pathogenic g.128850348G>A - SMO(NM_005631.5):c.1611G>A (p.W537*) - SMO_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1684C>T r.(?) p.(Arg562Trp) Unknown - VUS g.128850837C>T - SMO(NM_005631.5):c.1684C>T (p.(Arg562Trp)) - SMO_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1685G>A r.(?) p.(Arg562Gln) Parent #1 - pathogenic g.128850838G>A g.129210997G>A - - SMO_000013 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918348 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.1685G>A r.(?) p.(Arg562Gln) Unknown - pathogenic g.128850838G>A - SMO(NM_005631.5):c.1685G>A (p.(Arg562Gln)) - SMO_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1726C>T r.(?) p.(Arg576Trp) Paternal (confirmed) - likely pathogenic (recessive) g.128850879C>T g.129211038C>T - - SMO_000019 - PubMed: Le 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES PAP Fam4PatII4 (P5) PubMed: Le 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - 1 Sophie Thomas
+?/. - c.1726C>T r.(?) p.(Arg576Trp) Both (homozygous) - likely pathogenic (recessive) g.128850879C>T g.129211038C>T - - SMO_000019 - PubMed: Le 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES PAP Fam5PatII3 (P7) PubMed: Le 2020 twin F yes France - - - - - 1 Sophie Thomas
+?/. - c.1726C>T r.(?) p.(Arg576Trp) Both (homozygous) - likely pathogenic (recessive) g.128850879C>T g.129211038C>T - - SMO_000019 - PubMed: Le 2020 - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.1727G>A r.(?) p.(Arg576Gln) Maternal (confirmed) - likely pathogenic (recessive) g.128850880G>A g.129211039G>A - - SMO_000020 - PubMed: Le 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES PAP Fam4PatII4 (P5) PubMed: Le 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - 1 Sophie Thomas
?/. - c.1882C>T r.(?) p.(Arg628Trp) Unknown - VUS g.128851557C>T - SMO(NM_005631.5):c.1882C>T (p.(Arg628Trp)) - SMO_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1921C>G r.(?) p.(Pro641Ala) Unknown - VUS g.128851596C>G - SMO(NM_005631.5):c.1921C>G (p.(Pro641Ala), p.P641A) - SMO_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1921C>G r.(?) p.(Pro641Ala) Unknown - likely benign g.128851596C>G - SMO(NM_005631.5):c.1921C>G (p.(Pro641Ala), p.P641A) - SMO_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1939C>T r.(?) p.(Pro647Ser) Parent #1 - likely benign g.128851867C>T g.129212026C>T - - SMO_000014 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34545616 Germline - 7/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
?/. - c.2002C>T r.(?) p.(Arg668Cys) Unknown - VUS g.128851930C>T g.129212089C>T SMO(NM_005631.4):c.2002C>T (p.(Arg668Cys)) - SMO_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2093C>G r.(?) p.(Pro698Arg) Unknown - VUS g.128852021C>G - SMO(NM_005631.4):c.2093C>G (p.P698R), SMO(NM_005631.5):c.2093C>G (p.P698R) - SMO_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2093C>G r.(?) p.(Pro698Arg) Unknown - VUS g.128852021C>G - SMO(NM_005631.4):c.2093C>G (p.P698R), SMO(NM_005631.5):c.2093C>G (p.P698R) - SMO_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2096G>A r.(?) p.(Ser699Asn) Unknown - VUS g.128852024G>A - SMO(NM_005631.5):c.2096G>A (p.(Ser699Asn)) - SMO_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2147C>A r.(?) p.(Ala716Glu) Unknown - likely benign g.128852075C>A g.129212234C>A SMO(NM_005631.4):c.2147C>A (p.A716E) - SMO_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2177G>A r.(?) p.(Arg726Gln) Unknown - VUS g.128852105G>A - SMO(NM_005631.5):c.2177G>A (p.(Arg726Gln)) - SMO_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2255C>T r.(?) p.(Ala752Val) Unknown - likely benign g.128852183C>T g.129212342C>T SMO(NM_005631.4):c.2255C>T (p.(Ala752Val)) - SMO_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2265C>T r.(?) p.(Pro755=) Unknown - likely benign g.128852193C>T - SMO(NM_005631.4):c.2265C>T (p.P755=) - SMO_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2291_2292del r.2291_2292del p.Gln764Argfs*52 Paternal (confirmed) - likely pathogenic (recessive) g.128852219_128852220del g.129212378_129212379del - - SMO_000021 - PubMed: Le 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES PAP Fam2PatII1 (P2) PubMed: Le 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - - - - 2 Sophie Thomas
?/. - c.2314C>T r.(?) p.(Arg772Cys) Unknown - VUS g.128852242C>T - SMO(NM_005631.5):c.2314C>T (p.(Arg772Cys)) - SMO_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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