Full data view for gene SHANK2

Information The variants shown are described using the NM_012309.4 transcript reference sequence.

139 entries on 2 pages. Showing entries 1 - 100.
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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.?A>C - p.? Unknown - VUS g.70642820T>G - NM_012309.3:c.1631+1728A>C - SHANK2_000011 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.?A>C - p.? Both (homozygous) - VUS g.70642820T>G - NM_012309.3:c.1631+1728A>C - SHANK2_000011 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.7C>T r.(?) p.? Unknown - likely benign g.70858366G>A - SHANK2(NM_012309.5):c.7C>T (p.(Arg3Cys)) - SHANK2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31G>A r.(?) p.? Unknown - VUS g.70858342C>T - SHANK2(NM_012309.5):c.31G>A (p.E11K) - SHANK2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51C>T r.(?) p.(Ser17=) Unknown - likely benign g.70858322G>A g.71147276G>A SHANK2(NM_012309.4):c.51C>T (p.S17=) - SHANK2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.167C>T r.(?) p.(Thr56Met) Unknown - likely benign g.70858206G>A g.71147160G>A SHANK2(NM_012309.4):c.167C>T (p.T56M) - SHANK2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.227C>T r.(?) p.(Pro76Leu) Unknown - VUS g.70830059G>A g.71119013G>A SHANK2(NM_012309.3):c.227C>T (p.(Pro76Leu)), SHANK2(NM_012309.4):c.227C>T (p.P76L) - SHANK2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.227C>T r.(?) p.(Pro76Leu) Unknown - VUS g.70830059G>A g.71119013G>A SHANK2(NM_012309.3):c.227C>T (p.(Pro76Leu)), SHANK2(NM_012309.4):c.227C>T (p.P76L) - SHANK2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.318G>A r.(?) p.(Pro106=) Unknown - likely benign g.70829968C>T g.71118922C>T SHANK2(NM_012309.4):c.318G>A (p.P106=) - SHANK2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.332G>A r.(?) p.(Arg111His) Unknown - VUS g.70829954C>T - SHANK2(NM_012309.4):c.332G>A (p.R111H) - SHANK2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363C>A r.(?) p.(Leu121=) Unknown - likely benign g.70829923G>T g.71118877G>T SHANK2(NM_012309.4):c.363C>A (p.L121=) - SHANK2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.415C>T r.(?) p.? Unknown - likely benign g.70824407G>A - - - SHANK2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.454G>T r.(?) p.(Glu152*) Unknown - VUS g.70824368C>A g.71113322C>A - - SHANK2_000074 - PubMed: Minardi 2020 - - Germline - - - - - DNA SEQ-NG-I - - EIEE - PubMed: Minardi 2020 - M - Italy - - - - - 1 Francesca Bisulli
+/. 4i_7i c.(483+1_484-1)_(912+1_913-1)del r.? p.? Unknown - pathogenic g.(70785658_70803467)_(70821096_70824338)del - del exons6/7 AB208026.1 - SHANK2_000009 - PubMed: Berkel 2010 - - De novo - - - - - DNA SEQ - - ? - PubMed: Berkel 2010 - M - - Europe - - - - 1 Jacopo Celli
+/. 5i_7i c.(592+1_593-1)_(912+1_913-1)del r.593_913del p.Glu198Aspfs*12 Unknown - pathogenic g.(70785658_70803467)_(70805735_70820986)del - del exon7 AB208026.1 - SHANK2_000010 analysed fibroblast RNA PubMed: Berkel 2010 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Berkel 2010 - F - - Europe - - - - 1 Jacopo Celli
-?/. - c.613G>T r.(?) p.? Unknown - likely benign g.70805714C>A - SHANK2(NM_012309.5):c.613G>T (p.(Ala205Ser)) - SHANK2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.635A>G r.(?) p.(Glu212Gly) Unknown - VUS g.70805692T>C g.71094646T>C SHANK2(NM_012309.3):c.635A>G (p.(Glu212Gly)) - SHANK2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.761G>A r.(?) p.(Gly254Asp) Unknown - VUS g.70803619C>T - SHANK2(NM_012309.5):c.761G>A (p.G254D) - SHANK2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.764C>T r.(?) p.(Ala255Val) Unknown - VUS g.70803616G>A - SHANK2(NM_012309.5):c.764C>T (p.(Ala255Val), p.A255V) - SHANK2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.764C>T r.(?) p.(Ala255Val) Unknown - likely benign g.70803616G>A - SHANK2(NM_012309.5):c.764C>T (p.(Ala255Val), p.A255V) - SHANK2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1061G>A r.(?) p.? Unknown - VUS g.70666754C>T - SHANK2(NM_012309.5):c.1208G>A (p.R403H) - SHANK2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1069C>T r.(?) p.? Unknown - VUS g.70666746G>A g.70807145T>A SHANK2(NM_012309.3):c.1070C>T (p.(Arg406Trp)) - SHANK2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1070G>C r.(?) p.? Unknown - likely benign g.70666745C>G g.70807144C>G SHANK2(NM_012309.4):c.1217G>C (p.R406P) - SHANK2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1194C>T r.(?) p.? Unknown - likely benign g.70666621G>A - SHANK2(NM_012309.4):c.1341C>T (p.P447=) - SHANK2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1197G>A r.(?) p.? Unknown - likely benign g.70666618C>T g.70807060C>T SHANK2(NM_012309.4):c.1344G>A (p.Q448=) - SHANK2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.1213C>T r.(?) p.(Arg405Trp) Paternal (confirmed) - likely pathogenic g.? - C76T, R26W AB208026.1 - SHANK2_000002 - PubMed: Berkel 2010 - - Germline - - - - - DNA SEQ - - ? - PubMed: Berkel 2010 - M - - Europe - - - - 1 Jacopo Celli
+?/. 12 c.1213C>T r.(?) p.(Arg405Trp) Paternal (confirmed) - likely pathogenic g.? - C76T, R26W AB208026.1 - SHANK2_000002 - PubMed: Berkel 2010 - - Germline - - - - - DNA SEQ - - ? - PubMed: Berkel 2010 - F - - Europe - - - - 1 Jacopo Celli
?/. 12 c.1213C>T r.(?) p.(Arg405Trp) Parent #1 - VUS g.? - C76T, R26W AB208026.1 - SHANK2_000002 - PubMed: Berkel 2010 - - Germline - - - - - DNA SEQ - - ? - PubMed: Berkel 2010 - M - - Europe - - - - 1 Jacopo Celli
?/. - c.1224C>T r.(?) p.? Unknown - VUS g.70666591G>A g.70807048G>A SHANK2(NM_012309.3):c.1225C>T (p.(Arg409Ter)) - SHANK2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1224del r.(?) p.(Glu409ArgfsTer148) Unknown - pathogenic g.70666591del - - - SHANK2_000071 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.1224del r.(?) p.(Asn409ThrfsTer148) Unknown - pathogenic (dominant) g.70666743del g.70820638del - - SHANK2_000071 - PubMed: Froukh 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD TF024 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - 1 Johan den Dunnen
?/. - c.1284G>A r.(?) p.? Unknown - VUS g.70666531C>T g.70807023G>T SHANK2(NM_012309.4):c.1431G>A (p.S477=) - SHANK2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1330C>G r.(?) p.? Unknown - likely benign g.70666485G>C g.70806994A>C SHANK2(NM_012309.3):c.1331C>G (p.(Ala444Gly)) - SHANK2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1345G>A r.(?) p.? Unknown - VUS g.70666470C>T g.70807003= SHANK2(NM_012309.3):c.1346G>A (p.(Arg449Gln)) - SHANK2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1490C>G r.(?) p.? Unknown - VUS g.70653133G>C g.70798448T>C SHANK2(NM_012309.5):c.1637C>G (p.P546R) - SHANK2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1493+10G>A r.(=) p.(=) Unknown - likely benign g.70666459C>T - SHANK2(NM_012309.4):c.1493+10G>A, SHANK2(NM_012309.5):c.1493+10G>A - SHANK2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1493+10G>A r.(=) p.(=) Unknown - likely benign g.70666459C>T - SHANK2(NM_012309.4):c.1493+10G>A, SHANK2(NM_012309.5):c.1493+10G>A - SHANK2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1506= r.(=) p.(Ala502=) Unknown - VUS g.70666771G>A g.70807159= SHANK2(NM_012309.3):c.1045C>T (p.(Pro349Ser)) - SHANK2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1517-9C>T r.(=) p.(=) Unknown - likely benign g.70644670G>A g.70698771G>A SHANK2(NM_012309.4):c.1664-9C>T - SHANK2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1517-8G>A r.(=) p.(=) Unknown - likely benign g.70644669C>T - SHANK2(NM_012309.5):c.1664-8G>A - SHANK2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1517-8G>T r.(=) p.(=) Unknown - VUS g.70644669C>A g.70698770= SHANK2(NM_012309.3):c.1518-8G>T (p.(=)) - SHANK2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1523G>A r.(?) p.? Unknown - likely benign g.70644655C>T g.70698762= SHANK2(NM_012309.4):c.1670G>A (p.S557N) - SHANK2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1525A>G r.(?) p.? Unknown - VUS g.70644653T>C - SHANK2(NM_012309.4):c.1672A>G (p.I558V), SHANK2(NM_012309.5):c.1525A>G (p.(Ile509Val)) - SHANK2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1525A>G r.(?) p.? Unknown - likely benign g.70644653T>C - SHANK2(NM_012309.4):c.1672A>G (p.I558V), SHANK2(NM_012309.5):c.1525A>G (p.(Ile509Val)) - SHANK2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1527C>T r.(?) p.? Unknown - likely benign g.70644651G>A g.70698760G>A SHANK2(NM_012309.4):c.1674C>T (p.I558=) - SHANK2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1591G>A r.(?) p.? Unknown - VUS g.70644587C>T g.70698719C>T SHANK2(NM_012309.3):c.1592G>A (p.(Arg531His)) - SHANK2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1593G>C r.(?) p.? Unknown - VUS g.70644585C>G g.70698717C>G SHANK2(NM_012309.3):c.1594G>C (p.(Gly532Arg)) - SHANK2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1612C>T r.(?) p.? Unknown - likely benign g.70644566G>A g.70698702G>A SHANK2(NM_012309.4):c.1759C>T (p.P587S) - SHANK2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1707-67G>A r.(=) p.(=) Unknown - VUS g.70507850C>T - SHANK2(NM_133266.3):c.23G>A (p.(Gly8Glu)) - SHANK2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1752G>A r.(?) p.(Gln584=) Unknown - likely benign g.70653170C>T - SHANK2(NM_012309.4):c.1600G>A (p.V534I) - SHANK2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1759C>T r.(?) p.(Pro587Ser) Maternal (confirmed) - likely pathogenic g.? - C622T, P208S AB208026.1 - SHANK2_000003 - PubMed: Berkel 2010 - - Germline - - - - - DNA SEQ - - ? - PubMed: Berkel 2010 - M - - Europe - - - - 1 Jacopo Celli
+?/. 13 c.1759C>T r.(?) p.(Pro587Ser) Maternal (confirmed) - likely pathogenic g.? - C622T, P208S AB208026.1 - SHANK2_000003 - PubMed: Berkel 2010 - - Germline - - - - - DNA SEQ - - ? - PubMed: Berkel 2010 - M - - Europe - - - - 1 Jacopo Celli
+?/. 13 c.1759C>T r.(?) p.(Pro587Ser) Maternal (confirmed) - likely pathogenic g.? - C622T, P208S AB208026.1 - SHANK2_000003 - PubMed: Berkel 2010 - - Germline - - - - - DNA SEQ - - ? - PubMed: Berkel 2010 - M - - Europe - - - - 1 Jacopo Celli
+?/. 13 c.1759C>T r.(?) p.(Pro587Ser) Parent #1 - likely pathogenic g.? - C622T, P208S AB208026.1 - SHANK2_000003 - PubMed: Berkel 2010 - - Germline - - - - - DNA SEQ - - ? - PubMed: Berkel 2010 - F - - Europe - - - - 1 Jacopo Celli
?/. 13 c.1759C>T r.(?) p.(Pro587Ser) Parent #1 - VUS g.? - C622T, P208S AB208026.1 - SHANK2_000003 - PubMed: Berkel 2010 - - Germline - - - - - DNA SEQ - - ? - PubMed: Berkel 2010 - F - - Europe - - - - 1 Jacopo Celli
?/. - c.1823C>T r.(?) p.? Unknown - VUS g.70506024G>A g.70502898T>A SHANK2(NM_012309.3):c.1824C>T (p.(=)) - SHANK2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1826C>G r.(?) p.? Unknown - likely benign g.70506021G>C g.70502895G>C SHANK2(NM_012309.3):c.1827C>G (p.(=)) - SHANK2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1829C>A r.(?) p.(Ser610Tyr) Parent #1 - likely pathogenic g.? - C692A, S231Y AB208026.1 - SHANK2_000004 - PubMed: Berkel 2010 - - Germline - - - - - DNA SEQ - - ? - PubMed: Berkel 2010 - F - - Europe - - - - 1 Jacopo Celli
?/. 14 c.1829C>A r.(?) p.(Ser610Tyr) Parent #1 - VUS g.? - C692A, S231Y AB208026.1 - SHANK2_000004 - PubMed: Berkel 2010 - - Germline - - - - - DNA SEQ - - ? - PubMed: Berkel 2010 - M - - Europe - - - - 1 Jacopo Celli
?/. - c.1838T>C r.(?) p.? Unknown - VUS g.70506009A>G - SHANK2(NM_133266.5):c.221T>C (p.L74P) - SHANK2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1914+5G>C r.spl? p.? Unknown - VUS g.70505928C>G - SHANK2(NM_133266.3):c.297+5G>C (p.?) - SHANK2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1937-72C>T r.(=) p.(=) Unknown - VUS g.70507855G>A g.70660024= SHANK2(NM_012309.3):c.1708-72C>T (p.(=)) - SHANK2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2032G>A r.(?) p.(Gly678Arg) Unknown - VUS g.70505962C>T - SHANK2(NM_012309.5):c.2032G>A (p.G678R) - SHANK2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2050+1G>A r.spl? p.? Unknown - likely pathogenic g.70348900C>T g.70502439G>T - - SHANK2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2050+4C>T r.spl? p.? Unknown - likely benign g.70348897G>A - SHANK2(NM_012309.5):c.2197+4C>T - SHANK2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2069G>A r.(?) p.? Unknown - VUS g.70348373C>T - SHANK2(NM_012309.5):c.2216G>A (p.(Arg739Gln)) - SHANK2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2098C>T r.(?) p.(Gln700Ter) Unknown ACMG pathogenic (dominant) g.70349000G>A g.70502895G>A - - SHANK2_000087 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDLBA - - - F no Italy - - - - - 1 Alessandra Renieri
+?/. - c.2116G>T r.(?) p.? Unknown - likely pathogenic g.70348326C>A - SHANK2(NM_012309.5):c.2116G>T (p.(Glu706*)) - SHANK2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2191A>C r.(?) p.? Unknown - VUS g.70338541T>G g.70490371T>G SHANK2(NM_012309.3):c.2192A>C (p.(Lys780Gln)), SHANK2(NM_133266.3):c.574A>C (p.K192Q) - SHANK2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2191A>C r.(?) p.? Unknown - VUS g.70338541T>G g.70490371T>G SHANK2(NM_012309.3):c.2192A>C (p.(Lys780Gln)), SHANK2(NM_133266.3):c.574A>C (p.K192Q) - SHANK2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2306G>A r.(?) p.? Unknown - likely benign g.70336479C>T g.70489345C>T SHANK2(NM_012309.3):c.2307G>A (p.(=)), SHANK2(NM_133266.3):c.689G>A (p.R230H), SHANK2(NM_133266.5):c.689G>A (p.R230H) - SHANK2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2306G>A r.(?) p.? Unknown - benign g.70336479C>T g.70489345C>T SHANK2(NM_012309.3):c.2307G>A (p.(=)), SHANK2(NM_133266.3):c.689G>A (p.R230H), SHANK2(NM_133266.5):c.689G>A (p.R230H) - SHANK2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2306G>A r.(?) p.? Unknown - VUS g.70336479C>T g.70489345C>T SHANK2(NM_012309.3):c.2307G>A (p.(=)), SHANK2(NM_133266.3):c.689G>A (p.R230H), SHANK2(NM_133266.5):c.689G>A (p.R230H) - SHANK2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2381C>T r.(?) p.? Unknown - VUS g.70336404G>A g.70489319T>A SHANK2(NM_012309.3):c.2382C>T (p.(=)) - SHANK2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2435_2436del r.? p.? Unknown - VUS g.70333817_70333818del g.70473413_70473420del SHANK2(NM_012309.3):c.2436_2437del (p.(Gly813LysfsTer?)) - SHANK2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2439+1G>A r.spl? p.? Unknown - likely pathogenic g.70338439C>T - SHANK2(NM_012309.4):c.2439+1G>A, SHANK2(NM_012309.5):c.2439+1G>A - SHANK2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2439+1G>A r.spl? p.? Unknown - VUS g.70338439C>T - SHANK2(NM_012309.4):c.2439+1G>A, SHANK2(NM_012309.5):c.2439+1G>A - SHANK2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7i c.2440-5T>G r.2439_2440= p.= Unknown - VUS g.70336497A>C g.70490392A>C - - SHANK2_000115 no effect on RNA - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
?/. - c.2495C>A r.(?) p.? Unknown - VUS g.70333756G>T - SHANK2(NM_133266.3):c.878C>A (p.(Pro293His)) - SHANK2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 22 c.2521C>T r.(?) p.(Arg841*) Parent #1 - likely pathogenic g.? - C1384T, R462X AB208026.1 - SHANK2_000001 - PubMed: Berkel 2010 - - De novo - - - - - DNA SEQ - - ? - PubMed: Berkel 2010 - M - - Europe - - - - 1 Jacopo Celli
+?/. 24 c.2609dup r.(?) p.(Met871Asnfs*15) Unknown - likely pathogenic g.70333789dup - 2610dupC - SHANK2_000042 NOTE: automated c. to g. conversions fails for this variant Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
-?/. - c.2772G>C r.(?) p.? Unknown - likely benign g.70333479C>G - SHANK2(NM_133266.3):c.1155G>C (p.(Lys385Asn)) - SHANK2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3018del r.(?) p.(=) Unknown - VUS g.70333233del - SHANK2(NM_012309.4):c.3165delC (p.I1055Mfs*18) - SHANK2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3153G>A r.(?) p.(=) Unknown - likely benign g.70333098C>T g.70472182C>T SHANK2(NM_133266.3):c.1536G>A (p.P512=) - SHANK2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3265G>A r.(?) p.(=) Unknown - likely benign g.70332986C>T g.70471907C>T SHANK2(NM_012309.4):c.3412G>A (p.A1138T) - SHANK2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3337G>T r.(?) p.? Unknown - likely pathogenic g.70332914C>A - SHANK2(NM_012309.4):c.3484G>T (p.E1162*) - SHANK2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3425C>T r.(?) p.? Unknown - VUS g.70332826G>A - SHANK2(NM_133266.3):c.1808C>T (p.(Pro603Leu)) - SHANK2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3442G>A r.(?) p.(=) Unknown - VUS g.70332809C>T g.70471484C>T SHANK2(NM_012309.3):c.3443G>A (p.(Gly1197Ser)) - SHANK2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3652C>T r.(?) p.(=) Unknown - pathogenic g.70332599G>A - SHANK2(NM_133266.5):c.2035C>T (p.Q679*) - SHANK2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3741_3743del r.? p.? Unknown - VUS g.70332513_70332515del - SHANK2(NM_012309.5):c.3888_3890delGAA (p.K1296del) - SHANK2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3812del r.(?) p.(Gly1271Aspfs*3) Unknown - likely pathogenic g.70332589del - - - SHANK2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3839C>T r.(?) p.(Gln741*) Unknown - likely pathogenic (dominant) g.70332413G>A g.70486454G>A - - SHANK2_000078 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411435 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
?/. - c.3857C>A r.(?) p.(=) Unknown - VUS g.70332394G>T g.70470387G>T SHANK2(NM_012309.3):c.3858C>A (p.(=)) - SHANK2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3909T>C r.(?) p.(=) Unknown - likely benign g.70332342A>G g.70470201A>G SHANK2(NM_012309.4):c.4056T>C (p.V1352=) - SHANK2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3939C>T r.(?) p.(=) Unknown - likely benign g.70332312G>A g.70470123G>A SHANK2(NM_012309.4):c.4086C>T (p.S1362=) - SHANK2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3983C>T r.(?) p.? Unknown - likely benign g.70332268G>A - SHANK2(NM_133266.3):c.2366C>T (p.(Ala789Val)) - SHANK2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4125C>T r.(?) p.(=) Unknown - likely benign g.70332126G>A g.70469615G>A SHANK2(NM_012309.4):c.4272C>T (p.P1424=) - SHANK2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4133G>A r.(?) p.(=) Unknown - VUS g.70332118C>T g.70469594C>T SHANK2(NM_012309.3):c.4134G>A (p.(=)), SHANK2(NM_012309.5):c.4280G>A (p.R1427Q) - SHANK2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4133G>A r.(?) p.(=) Unknown - VUS g.70332118C>T - SHANK2(NM_012309.3):c.4134G>A (p.(=)), SHANK2(NM_012309.5):c.4280G>A (p.R1427Q) - SHANK2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4138G>A r.(?) p.(=) Unknown - likely benign g.70332113C>T g.70469582A>T SHANK2(NM_012309.3):c.4139G>A (p.(Ser1380Asn)), SHANK2(NM_012309.5):c.4285G>A (p.A1429T) - SHANK2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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