Full data view for gene SHOC2

Information The variants shown are described using the NM_007373.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
Legend   How to query  

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.4A>G r.(?) p.(Ser2Gly) Unknown ACMG pathogenic g.112724120A>G g.110964362A>G - - SHOC2_000001 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - NSLH1 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
+/. - c.4A>G r.(?) p.(Ser2Gly) Unknown - pathogenic g.112724120A>G g.110964362A>G SHOC2(NM_001324337.1):c.4A>G (p.S2G) - SHOC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4A>G r.(?) p.(Ser2Gly) Unknown - pathogenic g.112724120A>G - - - SHOC2_000001 - - - - De novo - - - - - DNA SEQ-NG - - NSLH1 68 - - F - China - - - - - 1 Sha Hong
+?/. - c.4A>G r.(?) p.(Ser2Gly) Unknown - likely pathogenic (dominant) g.112724120A>G g.110964362A>G - - SHOC2_000001 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411252 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
+/. - c.4A>G r.(?) p.(Ser2Gly) Unknown - pathogenic g.112724120A>G - SHOC2(NM_001324337.1):c.4A>G (p.S2G) - SHOC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4A>G r.(?) p.(Ser2Gly) Unknown - pathogenic g.112724120A>G - - - SHOC2_000001 - - - - De novo - - - - - DNA SEQ-NG - - NSLH1 Patient 6 - - F no China - - - - - 1 Simin Zheng
+/. - c.4A>G r.(?) p.(Ser2Gly) Unknown ACMG pathogenic (dominant) g.112724120A>G g.110964362A>G - - SHOC2_000001 ACMG PS2, PM2, PP3, PP5 PubMed: Marinakis 2021 - rs267607048 De novo - - - - - DNA SEQ, SEQ-NG - WES ? 9106 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.4A>G r.(?) p.(Ser2Gly) Unknown - pathogenic (dominant) g.112724120A>G g.110964362A>G NM_001269039.1:c.4A>G - SHOC2_000001 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2066.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
?/. - c.8G>C r.(?) p.(Ser3Thr) Unknown - VUS g.112724124G>C - SHOC2(NM_007373.4):c.8G>C (p.S3T) - SHOC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.58T>C r.(?) p.(Ser20Pro) Unknown - likely benign g.112724174T>C g.110964416T>C SHOC2(NM_007373.4):c.58T>C (p.S20P) - SHOC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.126A>T r.(?) p.(Glu42Asp) Maternal (confirmed) - VUS g.112724242A>T g.110964484A>T - - SHOC2_000031 variant in mother and twin brother PubMed: Erkut 2025, Journal: Erkut 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat18 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.146A>T r.(?) p.(Asp49Val) Unknown - likely benign g.112724262A>T - - - SHOC2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240G>T r.(?) p.(Gly80=) Unknown - likely benign g.112724356G>T - SHOC2(NM_001324337.1):c.240G>T (p.G80=) - SHOC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.299A>G r.(?) p.(Glu100Gly) Unknown - VUS g.112724415A>G - - - SHOC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.329G>A r.(?) p.(Arg110Lys) Unknown - VUS g.112724445G>A - SHOC2(NM_007373.4):c.329G>A (p.R110K) - SHOC2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.361G>A r.(?) p.(Glu121Lys) Unknown - likely pathogenic g.112724477G>A - - - SHOC2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.427G>A r.(?) p.(Gly143Arg) Unknown - likely benign g.112724543G>A - - - SHOC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.457C>T r.(?) p.(Leu153=) Unknown - benign g.112724573C>T g.110964815C>T SHOC2(NM_007373.4):c.457C>T (p.L153=, p.(Leu153=)) - SHOC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.457C>T r.(?) p.(Leu153=) Unknown - benign g.112724573C>T - SHOC2(NM_007373.4):c.457C>T (p.L153=, p.(Leu153=)) - SHOC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.519G>T r.(?) p.(Met173Ile) Unknown - likely pathogenic g.112724635G>T g.110964877G>T - - SHOC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.701T>C r.(?) p.(Ile234Thr) Unknown - VUS g.112724817T>C - SHOC2(NM_007373.4):c.701T>C (p.(Ile234Thr)) - SHOC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.807_808delinsTT r.(?) p.(Gln269_His270delinsHisTyr) Unknown - pathogenic (dominant) g.112745489_112745490delinsTT g.110985731_110985732delinsTT - - SHOC2_000011 - - - - De novo - - - - - DNA SEQ-NG-I Chorionic villus sample - NSLH1 17-1777 - - M no Albania - 01y - - - 1 Paola Daniele
?/. - c.817C>G r.(?) p.(Leu273Val) Unknown - VUS g.112745499C>G - - - SHOC2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.841+12G>A r.(=) p.(=) Unknown - likely benign g.112745535G>A g.110985777G>A SHOC2(NM_001324337.2):c.841+12G>A - SHOC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.841+12G>A r.(=) p.(=) Unknown - benign g.112745535G>A g.110985777G>A SHOC2(NM_001324337.2):c.841+12G>A - SHOC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.973-6T>A r.(=) p.(=) Unknown - likely benign g.112764358T>A g.111004600T>A SHOC2(NM_007373.3):c.973-6T>A - SHOC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.973-5del r.spl? p.? Unknown - benign g.112764359del g.111004601del SHOC2(NM_001324337.2):c.973-5delT - SHOC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1302C>T r.(?) p.(Asn434=) Unknown - benign g.112769023C>T - SHOC2(NM_001324337.2):c.1302C>T (p.N434=) - SHOC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1412A>C r.(?) p.(Lys471Thr) Unknown - VUS g.112769133A>C g.111009375A>C SHOC2(NM_007373.4):c.1412A>C (p.K471T) - SHOC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1422+5A>G r.spl? p.? Unknown - likely benign g.112769148A>G g.111009390A>G SHOC2(NM_007373.3):c.1422+5A>G - SHOC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1423-7C>T r.(=) p.(=) Unknown - benign g.112769464C>T g.111009706C>T - - SHOC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1460C>T r.(?) p.(Pro487Leu) Unknown - VUS g.112769508C>T - - - SHOC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1540+8C>T r.(=) p.(=) Unknown - likely benign g.112769596C>T g.111009838C>T SHOC2(NM_001324337.2):c.1540+8C>T - SHOC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1541-7del r.(=) p.(=) Unknown - benign g.112771361del g.111011603del SHOC2(NM_007373.4):c.1541-7del, SHOC2(NM_007373.4):c.1541-7delT - SHOC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1541-7del r.(=) p.(=) Unknown - benign g.112771361del g.111011603del SHOC2(NM_007373.4):c.1541-7del, SHOC2(NM_007373.4):c.1541-7delT - SHOC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1541-7del r.(=) p.(=) Unknown - likely benign g.112771361del - SHOC2(NM_007373.4):c.1541-7del, SHOC2(NM_007373.4):c.1541-7delT - SHOC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1541-7dup r.(=) p.(=) Unknown - likely benign g.112771361dup - SHOC2(NM_007373.4):c.1541-7dup - SHOC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1541G>T r.(?) p.(Gly514Val) Unknown - VUS g.112771368G>T - SHOC2(NM_007373.3):c.1541G>T (p.(Gly514Val)) - SHOC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1580A>G r.(?) p.(Asn527Ser) Unknown - likely benign g.112771407A>G - SHOC2(NM_007373.4):c.1580A>G (p.(Asn527Ser)) - SHOC2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1594A>G r.(?) p.(Ser532Gly) Unknown - benign g.112771421A>G g.111011663A>G - - SHOC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1696T>C r.(?) p.(Ser566Pro) Unknown - VUS g.112771523T>C - SHOC2(NM_007373.4):c.1696T>C (p.S566P) - SHOC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.