All variants in the SHANK3 gene

Information The variants shown are described using the NM_033517.1 transcript reference sequence.

254 entries on 3 pages. Showing entries 1 - 100.
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Effect     

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     
+?/. - c.? r.? p.? - likely pathogenic g.? - NM_001080420.1:c.3727dupG (A1243GfsX69) - LARGE_000000 - PubMed: Srivastava 2014 - - De novo - - - 0 - Johan den Dunnen
+?/. - c.? r.? p.? - likely pathogenic g.? - NM_001080420.1:c.3812_3824del13 (R1271LfsX25) - LARGE_000000 - PubMed: Srivastava 2014 - - De novo - - - 0 - Johan den Dunnen
./. - c.-3930126_*497046del r.0? p.0? - VUS g.47182944_51666786del - - - ALG12_000022 mosaicism, hemizygous in 0.56 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
+?/. - c.? r.(?) p.(Thr1063SerfsTer19) ACMG pathogenic (dominant) g.51159485_51159486insGCTCTCCCCGA - - - SHANK3_000227 ACMG: PVS1, PS2, PM2_SUP - - - De novo - - - 0 - Andreas Laner
-?/. - c.249G>T r.(?) p.(=) - likely benign g.51113661G>T g.50675233G>T SHANK3(NM_033517.1):c.249G>T (p.T83=) - SHANK3_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.268-2A>T r.spl? p.? - VUS g.51115048A>T g.50676620A>T - - SHANK3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.340-15C>T r.(=) p.(=) - likely benign g.51116998C>T g.50678570C>T SHANK3(NM_033517.1):c.340-15C>T - SHANK3_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.343A>T r.(?) p.(Asn115Tyr) - VUS g.51117016A>T - SHANK3(NM_001372044.2):c.568A>T (p.N190Y) - SHANK3_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.358A>G r.(?) p.(Met120Val) - VUS g.51117031A>G g.50678603A>G SHANK3(NM_033517.1):c.358A>G (p.M120V) - SHANK3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.366C>T r.(?) p.(=) - likely benign g.51117039C>T g.50678611C>T SHANK3(NM_033517.1):c.366C>T (p.Y122=) - SHANK3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.448+16G>A r.(=) p.(=) - benign g.51117137G>A g.50678709G>A SHANK3(NM_001372044.2):c.673+16G>A, SHANK3(NM_033517.1):c.448+16G>A - SHANK3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.448+16G>A r.(=) p.(=) - benign g.51117137G>A g.50678709G>A SHANK3(NM_001372044.2):c.673+16G>A, SHANK3(NM_033517.1):c.448+16G>A - SHANK3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.449-2A>G r.spl? p.? - pathogenic g.51117195A>G g.50678767A>G - - SHANK3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.471C>T r.(?) p.(=) - likely benign g.51117219C>T g.50678791C>T SHANK3(NM_001372044.1):c.698C>T (p.P233L) - SHANK3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.483C>T r.(?) p.(=) - likely benign g.51117231C>T - SHANK3(NM_033517.1):c.483C>T (p.(=)) - SHANK3_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 5 c.484G>A r.(?) p.(Ala162Thr) - likely benign g.51117232G>A g.50678804G>A - - SHANK3_000005 - - - - Germline - - - 0 - Simone Berkel
?/. - c.542G>A r.(?) p.(Arg181His) - VUS g.51117290G>A g.50678862G>A - - SHANK3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.563A>G r.(?) p.(His188Arg) - VUS g.51117311A>G - SHANK3(NM_001372044.2):c.788A>G (p.H263R) - SHANK3_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.600+1G>A r.spl? p.? - VUS g.51117349G>A g.50678921G>A - - SHANK3_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 5i c.601-1G>A r.(601_668del) p.(Thr201Argfs*11) - pathogenic g.51117446G>A g.50679018G>A - - SHANK3_000004 effect on splicing analysed using exon trap vector PubMed: Hamdan 2011 - - De novo yes - - 0 - Johan den Dunnen
-?/. - c.612C>A r.(?) p.(Asp204Glu) - likely benign g.51117458C>A g.50679030C>A SHANK3(NM_033517.1):c.612C>A (p.(Asp204Glu)) - SHANK3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.646G>A r.(?) p.(Gly216Ser) - likely benign g.51117492G>A g.50679064G>A SHANK3(NM_033517.1):c.646G>A (p.(Gly216Ser)) - SHANK3_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.734T>C r.(?) p.(Ile245Thr) - benign g.51117580T>C g.50679152T>C SHANK3(NM_001372044.2):c.959T>C (p.I320T), SHANK3(NM_033517.1):c.734T>C (p.I245T) - SHANK3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.734T>C r.(?) p.(Ile245Thr) - benign g.51117580T>C g.50679152T>C SHANK3(NM_001372044.2):c.959T>C (p.I320T), SHANK3(NM_033517.1):c.734T>C (p.I245T) - SHANK3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.768+14C>T r.(=) p.(=) - likely benign g.51117628C>T - SHANK3(NM_001372044.1):c.995+14C>T - SHANK3_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.769-7C>G r.(=) p.(=) - likely benign g.51117733C>G - SHANK3(NM_033517.1):c.769-7C>G (p.(=)) - SHANK3_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.795T>C r.(?) p.(=) - likely benign g.51117766T>C g.50679338T>C SHANK3(NM_033517.1):c.795T>C (p.H265=) - SHANK3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.816T>C r.(?) p.(=) - likely benign g.51117787T>C g.50679359T>C SHANK3(NM_033517.1):c.816T>C (p.Y272=) - SHANK3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.829G>A r.(?) p.(Gly277Arg) - likely benign g.51117800G>A g.50679372G>A SHANK3(NM_033517.1):c.829G>A (p.G277R, p.(Gly277Arg)) - SHANK3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.829G>A r.(?) p.(Gly277Arg) - likely benign g.51117800G>A g.50679372G>A SHANK3(NM_033517.1):c.829G>A (p.G277R, p.(Gly277Arg)) - SHANK3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.831G>T r.(?) p.(=) - likely benign g.51117802G>T g.50679374G>T SHANK3(NM_033517.1):c.831G>T (p.G277=) - SHANK3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.840C>T r.(?) p.(=) - likely benign g.51117811C>T g.50679383C>T SHANK3(NM_033517.1):c.840C>T (p.N280=) - SHANK3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.855A>G r.(?) p.(=) - likely benign g.51117826A>G g.50679398A>G SHANK3(NM_033517.1):c.855A>G (p.T285=) - SHANK3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.859C>T r.(?) p.(=) - likely benign g.51117830C>T g.50679402C>T SHANK3(NM_033517.1):c.859C>T (p.L287=) - SHANK3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.870T>C r.(?) p.(=) - likely benign g.51117841T>C g.50679413T>C SHANK3(NM_033517.1):c.870T>C (p.C290=) - SHANK3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.885+3_885+4insAGTGCTGAG r.spl? p.? - VUS g.51117859_51117860insAGTGCTGAG g.50679431_50679432insAGTGCTGAG SHANK3(NM_033517.1):c.885+2_885+3insGAGTGCTGA (p.?) - SHANK3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.885+5G>T r.spl? p.? - likely benign g.51117861G>T g.50679433G>T SHANK3(NM_001372044.1):c.1112+5G>T, SHANK3(NM_033517.1):c.885+5G>T - SHANK3_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.885+5G>T r.spl? p.? - VUS g.51117861G>T - SHANK3(NM_001372044.1):c.1112+5G>T, SHANK3(NM_033517.1):c.885+5G>T - SHANK3_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.885+5_885+6insCATTTAAAGGAAATAATGTAT r.spl? p.? - VUS g.51117861_51117862insCATTTAAAGGAAATAATGTAT g.50679433_50679434insCATTTAAAGGAAATAATGTAT SHANK3(NM_033517.1):c.885+5_885+6insCATTTAAAGGAAATAATGTAT (p.?) - SHANK3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.885+5_885+6insCATTTAAAGGAAATAATGTATAC r.spl? p.? - VUS g.51117861_51117862insCATTTAAAGGAAATAATGTATAC g.50679433_50679434insCATTTAAAGGAAATAATGTATAC SHANK3(NM_033517.1):c.885+5_885+6insCATTTAAAGGAAATAATGTATAC (p.?) - SHANK3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.885+5_885+6insCATTTAAAGGAAATAATGTATACAGTGGTCCATTTCCAAA r.spl? p.? - likely benign g.51117861_51117862insCATTTAAAGGAAATAATGTATACAGTGGTCCATTTCCAAA g.50679433_50679434insCATTTAAAGGAAATAATGTATACAGTGGTCCATTTCCAAA SHANK3(NM_033517.1):c.885+5_885+6insCATTTAAAGGAAATAATGTATACAGTGGTCCATTTCCAAA (p.?) - SHANK3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. 7i_22_ c.886-283_*17963del r.? p.? - likely pathogenic g.51121491_51187709del g.50683063_50749281del 51121756_51187704del - SHANK3_000003 variant corrected acc. SupFig3; SHANK3 variant associated with ID phenotype PubMed: Gilissen 2014 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.886-8C>T r.(=) p.(=) - likely benign g.51121760C>T g.50683332C>T SHANK3(NM_033517.1):c.886-8C>T (p.(=)) - SHANK3_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.891C>T r.(?) p.(=) - benign g.51121773C>T g.50683345C>T SHANK3(NM_033517.1):c.891C>T (p.S297=, p.(=)) - SHANK3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.891C>T r.(?) p.(=) - likely benign g.51121773C>T g.50683345C>T SHANK3(NM_033517.1):c.891C>T (p.S297=, p.(=)) - SHANK3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.891C>T r.(?) p.(=) - benign g.51121773C>T - SHANK3(NM_033517.1):c.891C>T (p.S297=, p.(=)) - SHANK3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? 8 c.898C>T r.(?) p.(Arg300Cys) - VUS g.51121780C>T g.50683352C>T - - SHANK3_000002 - Della Mina et al 2014, submitted - - Germline ? - - 0 - Lab Zuffardi
?/. - c.899G>A r.(?) p.(Arg300His) - VUS g.51121781G>A g.50683353G>A SHANK3(NM_033517.1):c.899G>A (p.(Arg300His)) - SHANK3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.908T>C r.(?) p.(Leu303Pro) - VUS g.51121790T>C - - - SHANK3_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.941A>G r.(?) p.(Tyr314Cys) - likely benign g.51121823A>G - - - SHANK3_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.950A>G r.(?) p.(Gln317Arg) - VUS g.51121832A>G g.50683404A>G - - SHANK3_000118 - - - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
-?/. - c.954A>C r.(?) p.(=) - likely benign g.51121836A>C g.50683408A>C SHANK3(NM_033517.1):c.954A>C (p.T318=) - SHANK3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.963+7C>T r.(=) p.(=) - likely benign g.51121852C>T - SHANK3(NM_033517.1):c.963+7C>T - SHANK3_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.963+8G>A r.(=) p.(=) - likely benign g.51121853G>A g.50683425G>A SHANK3(NM_001372044.1):c.1190+8G>A - SHANK3_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.964-5C>T r.spl? p.? - likely benign g.51123008C>T - SHANK3(NM_033517.1):c.964-5C>T (p.?) - SHANK3_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1010C>T r.(?) p.(Thr337Ile) - VUS g.51123059C>T g.50684631C>T SHANK3(NM_001372044.1):c.1237C>T (p.H413Y), SHANK3(NM_033517.1):c.1010C>T (p.(Thr337Ile)) - SHANK3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1010C>T r.(?) p.(Thr337Ile) - likely benign g.51123059C>T - SHANK3(NM_001372044.1):c.1237C>T (p.H413Y), SHANK3(NM_033517.1):c.1010C>T (p.(Thr337Ile)) - SHANK3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1030+12C>T r.(=) p.(=) - likely benign g.51123091C>T - SHANK3(NM_001372044.1):c.1257+12C>T - SHANK3_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1030+13C>T r.(=) p.(=) - likely benign g.51123092C>T g.50684664C>T SHANK3(NM_033517.1):c.1030+13C>T - SHANK3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1069C>T r.(?) p.(Arg357*) - pathogenic g.51133241C>T - - - SHANK3_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1074G>A r.(?) p.(=) - likely benign g.51133246G>A g.50694818G>A SHANK3(NM_033517.1):c.1074G>A (p.L358=) - SHANK3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1079dup r.(?) p.(Ser362Glnfs*51) - pathogenic g.51133251dup g.50694823dup SHANK3(NM_033517.1):c.1079dupG (p.S362Qfs*51) - SHANK3_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1079dup r.(?) p.(Ser362Glnfs*51) - pathogenic g.51133251dup - SHANK3(NM_033517.1):c.1079dupG (p.S362Qfs*51) - SHANK3_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1237C>T r.(?) p.(Arg413Trp) - VUS g.51133409C>T g.50694981C>T SHANK3(NM_033517.1):c.1237C>T (p.(Arg413Trp)) - SHANK3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1245C>T r.(?) p.(=) - likely benign g.51133417C>T g.50694989C>T SHANK3(NM_033517.1):c.1245C>T (p.A415=) - SHANK3_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1288G>A r.(?) p.(Gly430Ser) - likely benign g.51133460G>A - SHANK3(NM_033517.1):c.1288G>A (p.G430S) - SHANK3_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 10i c.1302+44G>A r.(?) p.(=) - VUS g.51133518G>A g.50695090G>A - - SHANK3_000001 - PubMed: Almomani 2011 - rs13055562 Germline - - - 0 - Gerard C.P. Schaafsma
+?/. - c.1303-289del r.(=) p.(=) - likely pathogenic g.51135696del - - - SHANK3_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1303-31G>A r.(=) p.(=) - benign g.51135954G>A g.50697526G>A SHANK3(NM_033517.1):c.1305-283G>A - SHANK3_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1303-16_1303-4del r.spl? p.? - benign g.51135969_51135981del g.50697541_50697553del SHANK3(NM_033517.1):c.1305-268_1305-256delTGTATTCGAATTC - SHANK3_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1303-9_1303-6del r.(=) p.(=) - likely benign g.51135976_51135979del g.50697548_50697551del SHANK3(NM_033517.1):c.1303-9_1303-6del (p.(=)) - SHANK3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1303-8_1303-5del r.spl? p.? - VUS g.51135977_51135980del g.50697549_50697552del SHANK3(NM_033517.1):c.1303-8_1303-5del (p.?) - SHANK3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1303-5T>C r.spl? p.? - likely benign g.51135980T>C g.50697552T>C SHANK3(NM_033517.1):c.1303-5T>C (p.?) - SHANK3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1303-3_1303-2insC r.spl? p.? - VUS g.51135982_51135983insC g.50697554_50697555insC SHANK3(NM_033517.1):c.1303-3_1303-2insC (p.?), SHANK3(NM_033517.1):c.1305-255_1305-254insC - SHANK3_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1303-3_1303-2insC r.spl? p.? - benign g.51135982_51135983insC g.50697554_50697555insC SHANK3(NM_033517.1):c.1303-3_1303-2insC (p.?), SHANK3(NM_033517.1):c.1305-255_1305-254insC - SHANK3_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1303-2A>G r.spl? p.? - VUS g.51135983A>G g.50697555A>G SHANK3(NM_033517.1):c.1303-2A>G (p.?) - SHANK3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1303-1G>C r.spl? p.? - VUS g.51135984G>C g.50697556G>C SHANK3(NM_033517.1):c.1303-1G>C (p.?) - SHANK3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1303-1_1303insGCCCCGGCCCCGCGCCCGGC r.spl? p.? - likely benign g.51135984_51135985insGCCCCGGCCCCGCGCCCGGC g.50697556_50697557insGCCCCGGCCCCGCGCCCGGC SHANK3(NM_033517.1):c.1303-1_1303insGCCCCGGCCCCGCGCCCGGC (p.(Pro448Alafs*39)) - SHANK3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1304_1308del r.? p.? - VUS g.51135986_51135992del g.50697558_50697564del SHANK3(NM_033517.1):c.1303_1309del (p.?), SHANK3(NM_033517.1):c.1305-251_1305-245delTCGGTTC - SHANK3_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1304_1308del r.? p.? - benign g.51135986_51135992del g.50697558_50697564del SHANK3(NM_033517.1):c.1303_1309del (p.?), SHANK3(NM_033517.1):c.1305-251_1305-245delTCGGTTC - SHANK3_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1307+1_1308-1del r.spl? p.? - likely benign g.51135990_51135991del g.50697562_50697563del SHANK3(NM_033517.1):c.1307+1_1308-1del (p.(Ser437ProfsTer1283)) - SHANK3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1315C>G r.(?) p.(Pro439Ala) - VUS g.51135999C>G g.50697571C>G SHANK3(NM_033517.1):c.1317C>G (p.(Pro452Ala)) - SHANK3_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1459+16G>A r.(=) p.(=) - likely benign g.51136159G>A - SHANK3(NM_033517.1):c.1472G>A (p.R491Q) - SHANK3_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1459+21_1459+30del r.(=) p.(=) - VUS g.51136164_51136173del g.50697736_50697745del SHANK3(NM_033517.1):c.1461+5_1461+14del (p.?), SHANK3(NM_033517.1):c.1498+5_1498+14delGGGGCGCGGG - SHANK3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1459+21_1459+30del r.(=) p.(=) - likely benign g.51136164_51136173del g.50697736_50697745del SHANK3(NM_033517.1):c.1461+5_1461+14del (p.?), SHANK3(NM_033517.1):c.1498+5_1498+14delGGGGCGCGGG - SHANK3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1511C>T r.(?) p.(Thr504Met) - VUS g.51137169C>T g.50698741C>T SHANK3(NM_033517.1):c.1513C>T (p.(Arg505Trp)) - SHANK3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1573+18T>C r.(=) p.(=) - benign g.51137249T>C g.50698821T>C SHANK3(NM_001372044.2):c.1837+18T>C, SHANK3(NM_033517.1):c.1612+18T>C - SHANK3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1573+18T>C r.(=) p.(=) - benign g.51137249T>C g.50698821T>C SHANK3(NM_001372044.2):c.1837+18T>C, SHANK3(NM_033517.1):c.1612+18T>C - SHANK3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1574-8C>T r.(=) p.(=) - benign g.51142280C>T g.50703852C>T SHANK3(NM_033517.1):c.1574-8C>T (p.(=)), SHANK3(NM_033517.1):c.1613-8C>T - SHANK3_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1574-8C>T r.(=) p.(=) - likely benign g.51142280C>T - SHANK3(NM_033517.1):c.1574-8C>T (p.(=)), SHANK3(NM_033517.1):c.1613-8C>T - SHANK3_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 12i_22_ c.1613-206_*14000del r.? p.? - pathogenic g.51142082_51183740del g.50703654_50745312del - - ACR_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-/. - c.1649+18G>A r.(=) p.(=) - benign g.51142381G>A g.50703953G>A SHANK3(NM_033517.1):c.1688+18G>A - SHANK3_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1732+16T>A r.(=) p.(=) - benign g.51142692T>A g.50704264T>A SHANK3(NM_033517.1):c.1771+16T>A - SHANK3_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1758G>A r.(?) p.(=) - VUS g.51143191G>A g.50704763G>A SHANK3(NM_033517.1):c.1760G>A (p.(Arg587His)) - SHANK3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1764G>A r.(?) p.(=) - likely benign g.51143197G>A g.50704769G>A SHANK3(NM_033517.1):c.1766G>A (p.(Arg589His)), SHANK3(NM_033517.1):c.1803G>A (p.T601=) - SHANK3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1764G>A r.(?) p.(=) - benign g.51143197G>A g.50704769G>A SHANK3(NM_033517.1):c.1766G>A (p.(Arg589His)), SHANK3(NM_033517.1):c.1803G>A (p.T601=) - SHANK3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1828G>A r.(?) p.(Gly610Arg) - VUS g.51143261G>A - SHANK3(NM_001372044.2):c.2092G>A (p.G698R) - SHANK3_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1854C>T r.(?) p.(=) - likely benign g.51143287C>T g.50704859C>T SHANK3(NM_033517.1):c.1893C>T (p.I631=) - SHANK3_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1857+19G>C r.(=) p.(=) - benign g.51143309G>C g.50704881G>C SHANK3(NM_033517.1):c.1896+19G>C - SHANK3_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1920T>C r.(?) p.(=) - likely benign g.51143454T>C g.50705026T>C SHANK3(NM_033517.1):c.1922T>C (p.(Val641Ala)) - SHANK3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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