SHANK1 (SH3 and multiple ankyrin repeat domains 1) - Rat Genome Database

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Gene: SHANK1 (SH3 and multiple ankyrin repeat domains 1) Homo sapiens
Analyze
Symbol: SHANK1
Name: SH3 and multiple ankyrin repeat domains 1
RGD ID: 734100
HGNC Page HGNC:15474
Description: Predicted to enable several functions, including protein domain specific binding activity; scaffold protein binding activity; and signaling receptor binding activity. Involved in several processes, including determination of affect; social behavior; and vocalization behavior. Located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: SH3 and multiple ankyrin repeat domains protein 1; somatostatin receptor-interacting protein; SPANK-1; SSTR-interacting protein; SSTRIP; synamon
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381950,659,255 - 50,719,802 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1950,659,255 - 50,719,802 (-)EnsemblGRCh38hg38GRCh38
GRCh371951,162,512 - 51,223,059 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,856,896 - 55,912,007 (-)NCBINCBI36Build 36hg18NCBI36
Build 341955,856,895 - 55,912,007NCBI
Celera1948,216,374 - 48,271,323 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1947,499,910 - 47,555,290 (-)NCBIHuRef
CHM1_11951,166,866 - 51,221,938 (-)NCBICHM1_1
T2T-CHM13v2.01953,747,980 - 53,808,613 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (TAS)
dendrite  (IEA,NAS)
dendritic spine  (IBA,IEA,ISS)
excitatory synapse  (IEA,ISS)
glutamatergic synapse  (IEA,ISO)
membrane  (IDA)
neuron projection  (IEA,ISS)
plasma membrane  (IDA,IEA,ISS)
postsynaptic density  (IBA,IEA,ISS)
postsynaptic membrane  (IBA,IEA,ISO,ISS)
Schaffer collateral - CA1 synapse  (IEA,ISO)
synapse  (IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10433268   PMID:10433269   PMID:10551867   PMID:10806096   PMID:10958799   PMID:10964907   PMID:11087996   PMID:11178875   PMID:11509555   PMID:11583995   PMID:12504591   PMID:12626503  
PMID:12753155   PMID:12954649   PMID:15121189   PMID:15255944   PMID:15673434   PMID:16217014   PMID:19416473   PMID:20936779   PMID:21653829   PMID:21873635   PMID:21901269   PMID:22503632  
PMID:23897824   PMID:24533096   PMID:25188300   PMID:25692235   PMID:25798074   PMID:27433848   PMID:27824329   PMID:28263956   PMID:28963042   PMID:29180619   PMID:29735556   PMID:30021884  
PMID:30126976   PMID:30629339   PMID:31586073   PMID:32356303   PMID:32564287   PMID:33436498   PMID:34113010   PMID:34835087   PMID:35388181   PMID:35468874   PMID:35914814  


Genomics

Comparative Map Data
SHANK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381950,659,255 - 50,719,802 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1950,659,255 - 50,719,802 (-)EnsemblGRCh38hg38GRCh38
GRCh371951,162,512 - 51,223,059 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,856,896 - 55,912,007 (-)NCBINCBI36Build 36hg18NCBI36
Build 341955,856,895 - 55,912,007NCBI
Celera1948,216,374 - 48,271,323 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1947,499,910 - 47,555,290 (-)NCBIHuRef
CHM1_11951,166,866 - 51,221,938 (-)NCBICHM1_1
T2T-CHM13v2.01953,747,980 - 53,808,613 (-)NCBIT2T-CHM13v2.0
Shank1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39743,958,343 - 44,009,518 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl743,959,677 - 44,009,996 (+)EnsemblGRCm39 Ensembl
GRCm38744,308,916 - 44,360,094 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl744,310,253 - 44,360,572 (+)EnsemblGRCm38mm10GRCm38
MGSCv37751,565,634 - 51,613,723 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36744,178,306 - 44,225,515 (+)NCBIMGSCv36mm8
Celera739,770,665 - 39,816,636 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map728.83NCBI
Shank1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81103,944,416 - 103,993,887 (+)NCBIGRCr8
mRatBN7.2194,807,879 - 94,857,356 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl194,808,276 - 94,855,824 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1100,193,688 - 100,241,225 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01108,666,330 - 108,713,869 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01101,956,762 - 102,004,293 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01100,297,137 - 100,344,377 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1100,297,152 - 100,344,377 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01101,362,243 - 101,410,338 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4194,791,887 - 94,840,584 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1194,872,463 - 94,918,294 (+)NCBI
Celera189,071,051 - 89,118,344 (+)NCBICelera
Cytogenetic Map1q22NCBI
Shank1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955559523,765 - 564,472 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955559522,466 - 566,275 (+)NCBIChiLan1.0ChiLan1.0
SHANK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22056,725,929 - 56,787,371 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11958,647,066 - 58,708,491 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01947,623,474 - 47,684,476 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11956,526,557 - 56,580,516 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1956,526,577 - 56,580,442 (-)Ensemblpanpan1.1panPan2
SHANK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11106,086,094 - 106,128,700 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1106,097,048 - 106,114,673 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1105,658,928 - 105,703,011 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01106,596,287 - 106,640,573 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1106,598,771 - 106,640,573 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11106,268,735 - 106,312,776 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01105,910,298 - 105,954,298 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01106,750,887 - 106,794,971 (+)NCBIUU_Cfam_GSD_1.0
Shank1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934922,550,731 - 22,595,302 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936889428,417 - 470,060 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936889428,404 - 470,161 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHANK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl655,451,094 - 55,499,031 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1655,452,095 - 55,496,304 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2651,348,953 - 51,395,795 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SHANK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1643,718,904 - 43,776,814 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl643,716,714 - 43,773,945 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607323,732,704 - 23,793,449 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Shank1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248323,938,170 - 3,976,870 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248323,934,525 - 3,978,607 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SHANK1
317 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_016148.2(SHANK1):c.6063C>T (p.Pro2021=) single nucleotide variant Malignant melanoma [RCV000072266] Chr19:50662388 [GRCh38]
Chr19:51165645 [GRCh37]
Chr19:55857457 [NCBI36]
Chr19:19q13.33		 not provided
NM_016148.2(SHANK1):c.2470G>A (p.Glu824Lys) single nucleotide variant Malignant melanoma [RCV000072267] Chr19:50686344 [GRCh38]
Chr19:51189601 [GRCh37]
Chr19:55881413 [NCBI36]
Chr19:19q13.33		 not provided
NM_016148.2(SHANK1):c.1653C>T (p.Tyr551=) single nucleotide variant Malignant melanoma [RCV000072268] Chr19:50702561 [GRCh38]
Chr19:51205818 [GRCh37]
Chr19:55897630 [NCBI36]
Chr19:19q13.33		 not provided
NM_016148.2(SHANK1):c.103C>T (p.Arg35Ter) single nucleotide variant Malignant melanoma [RCV000072269] Chr19:50716817 [GRCh38]
Chr19:51220074 [GRCh37]
Chr19:55911886 [NCBI36]
Chr19:19q13.33		 not provided
NM_016148.5(SHANK1):c.466T>C (p.Tyr156His) single nucleotide variant not provided [RCV003223824] Chr19:50715724 [GRCh38]
Chr19:51218981 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_016148.5(SHANK1):c.6106C>T (p.Arg2036Cys) single nucleotide variant Inborn genetic diseases [RCV003244447]|not provided [RCV003491350] Chr19:50662345 [GRCh38]
Chr19:51165602 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_016148.5(SHANK1):c.3833C>G (p.Pro1278Arg) single nucleotide variant Inborn genetic diseases [RCV003280662] Chr19:50668127 [GRCh38]
Chr19:51171384 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3638C>T (p.Pro1213Leu) single nucleotide variant Inborn genetic diseases [RCV003241435] Chr19:50668322 [GRCh38]
Chr19:51171579 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1402T>C (p.Ser468Pro) single nucleotide variant Inborn genetic diseases [RCV003288216] Chr19:50703651 [GRCh38]
Chr19:51206908 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_016148.5(SHANK1):c.1938-5G>A single nucleotide variant not specified [RCV000602062] Chr19:50697127 [GRCh38]
Chr19:51200384 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_016148.5(SHANK1):c.6255C>T (p.Pro2085=) single nucleotide variant not provided [RCV000915618] Chr19:50662196 [GRCh38]
Chr19:51165453 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.1993T>C (p.Leu665=) single nucleotide variant not provided [RCV000960194] Chr19:50689251 [GRCh38]
Chr19:51192508 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.2112G>A (p.Ser704=) single nucleotide variant not provided [RCV000917603] Chr19:50688904 [GRCh38]
Chr19:51192161 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.428A>C (p.Gln143Pro) single nucleotide variant not provided [RCV003312455] Chr19:50716306 [GRCh38]
Chr19:51219563 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4528C>T (p.Pro1510Ser) single nucleotide variant Inborn genetic diseases [RCV003244925] Chr19:50667432 [GRCh38]
Chr19:51170689 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3223G>A (p.Gly1075Ser) single nucleotide variant Inborn genetic diseases [RCV003245123] Chr19:50668737 [GRCh38]
Chr19:51171994 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1890C>T (p.Leu630=) single nucleotide variant not provided [RCV000884156] Chr19:50697636 [GRCh38]
Chr19:51200893 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.4902G>A (p.Leu1634=) single nucleotide variant not provided [RCV000973754] Chr19:50667058 [GRCh38]
Chr19:51170315 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.5886C>T (p.Ala1962=) single nucleotide variant not provided [RCV000899293] Chr19:50662565 [GRCh38]
Chr19:51165822 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.6438C>T (p.Gly2146=) single nucleotide variant not provided [RCV000921346] Chr19:50662013 [GRCh38]
Chr19:51165270 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.1368C>T (p.Ala456=) single nucleotide variant not provided [RCV000923971] Chr19:50703685 [GRCh38]
Chr19:51206942 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.5888C>G (p.Ala1963Gly) single nucleotide variant SHANK1-related disorder [RCV003912904]|not provided [RCV000903464] Chr19:50662563 [GRCh38]
Chr19:51165820 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.4650C>T (p.Pro1550=) single nucleotide variant not provided [RCV000880931] Chr19:50667310 [GRCh38]
Chr19:51170567 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.939C>T (p.Asn313=) single nucleotide variant not provided [RCV000923459] Chr19:50711968 [GRCh38]
Chr19:51215225 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.793-8G>A single nucleotide variant not provided [RCV000947997] Chr19:50712122 [GRCh38]
Chr19:51215379 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.669C>T (p.Thr223=) single nucleotide variant SHANK1-related disorder [RCV003930822]|not provided [RCV000892361] Chr19:50713921 [GRCh38]
Chr19:51217178 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.6228C>T (p.Leu2076=) single nucleotide variant not provided [RCV000923314] Chr19:50662223 [GRCh38]
Chr19:51165480 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.6411C>T (p.Tyr2137=) single nucleotide variant SHANK1-related disorder [RCV003930486]|not provided [RCV000879735] Chr19:50662040 [GRCh38]
Chr19:51165297 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.4755G>A (p.Thr1585=) single nucleotide variant not provided [RCV000904325] Chr19:50667205 [GRCh38]
Chr19:51170462 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.5387G>A (p.Gly1796Glu) single nucleotide variant SHANK1-related disorder [RCV003912894]|not provided [RCV000902892] Chr19:50666573 [GRCh38]
Chr19:51169830 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_016148.5(SHANK1):c.2040G>A (p.Gly680=) single nucleotide variant not provided [RCV000937532] Chr19:50689204 [GRCh38]
Chr19:51192461 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.5445G>A (p.Pro1815=) single nucleotide variant not provided [RCV000915619] Chr19:50666515 [GRCh38]
Chr19:51169772 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.6177G>A (p.Pro2059=) single nucleotide variant not provided [RCV000923619] Chr19:50662274 [GRCh38]
Chr19:51165531 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.1938-5G>T single nucleotide variant not provided [RCV000905457] Chr19:50697127 [GRCh38]
Chr19:51200384 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.15C>T (p.Pro5=) single nucleotide variant not provided [RCV000922246] Chr19:50716905 [GRCh38]
Chr19:51220162 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.5133G>T (p.Gly1711=) single nucleotide variant not provided [RCV000880918] Chr19:50666827 [GRCh38]
Chr19:51170084 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.6234G>A (p.Pro2078=) single nucleotide variant not provided [RCV000929403] Chr19:50662217 [GRCh38]
Chr19:51165474 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.3399G>T (p.Thr1133=) single nucleotide variant not provided [RCV000919419] Chr19:50668561 [GRCh38]
Chr19:51171818 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.6087C>T (p.Tyr2029=) single nucleotide variant not provided [RCV000939798] Chr19:50662364 [GRCh38]
Chr19:51165621 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2112G>C (p.Ser704=) single nucleotide variant not provided [RCV000902688] Chr19:50688904 [GRCh38]
Chr19:51192161 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.2409G>A (p.Ala803=) single nucleotide variant not provided [RCV000980630] Chr19:50686793 [GRCh38]
Chr19:51190050 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.1203C>T (p.Asn401=) single nucleotide variant not provided [RCV000981218] Chr19:50704139 [GRCh38]
Chr19:51207396 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.582G>A (p.Lys194=) single nucleotide variant not provided [RCV000903582] Chr19:50714240 [GRCh38]
Chr19:51217497 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.4847C>A (p.Thr1616Asn) single nucleotide variant SHANK1-related disorder [RCV003978391]|not provided [RCV000962756] Chr19:50667113 [GRCh38]
Chr19:51170370 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.4415G>T (p.Gly1472Val) single nucleotide variant not provided [RCV000966618] Chr19:50667545 [GRCh38]
Chr19:51170802 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.1611C>T (p.Pro537=) single nucleotide variant not provided [RCV000905913] Chr19:50702603 [GRCh38]
Chr19:51205860 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.795G>A (p.Ala265=) single nucleotide variant not provided [RCV000924173] Chr19:50712112 [GRCh38]
Chr19:51215369 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_016148.5(SHANK1):c.6288G>A (p.Gly2096=) single nucleotide variant not provided [RCV000963726] Chr19:50662163 [GRCh38]
Chr19:51165420 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.1356C>T (p.Ser452=) single nucleotide variant not provided [RCV000927619] Chr19:50703697 [GRCh38]
Chr19:51206954 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.1415C>T (p.Ser472Leu) single nucleotide variant Inborn genetic diseases [RCV003243995] Chr19:50703638 [GRCh38]
Chr19:51206895 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1560C>A (p.Ser520Arg) single nucleotide variant not provided [RCV003314792] Chr19:50702654 [GRCh38]
Chr19:51205911 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3601G>T (p.Ala1201Ser) single nucleotide variant Inborn genetic diseases [RCV003270927] Chr19:50668359 [GRCh38]
Chr19:51171616 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3 copy number gain not provided [RCV001007055] Chr19:50469730..51916485 [GRCh37]
Chr19:19q13.33-13.41		 uncertain significance
NM_016148.5(SHANK1):c.2028C>T (p.Phe676=) single nucleotide variant not provided [RCV000919760] Chr19:50689216 [GRCh38]
Chr19:51192473 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.5790C>T (p.Ser1930=) single nucleotide variant not provided [RCV000958777] Chr19:50662661 [GRCh38]
Chr19:51165918 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 copy number gain not provided [RCV000847250] Chr19:49600909..51366070 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5941C>T (p.Arg1981Cys) single nucleotide variant not provided [RCV003312454] Chr19:50662510 [GRCh38]
Chr19:51165767 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.325G>A (p.Glu109Lys) single nucleotide variant Inborn genetic diseases [RCV003271723] Chr19:50716409 [GRCh38]
Chr19:51219666 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3380C>T (p.Pro1127Leu) single nucleotide variant Inborn genetic diseases [RCV003249676] Chr19:50668580 [GRCh38]
Chr19:51171837 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.733C>T (p.Arg245Trp) single nucleotide variant SHANK1-related autism [RCV003233357] Chr19:50713857 [GRCh38]
Chr19:51217114 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_016148.5(SHANK1):c.3686C>T (p.Thr1229Met) single nucleotide variant Inborn genetic diseases [RCV003273540] Chr19:50668274 [GRCh38]
Chr19:51171531 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5282C>A (p.Ala1761Glu) single nucleotide variant not provided [RCV003126407] Chr19:50666678 [GRCh38]
Chr19:51169935 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2215G>A (p.Val739Met) single nucleotide variant not provided [RCV003230204] Chr19:50688016 [GRCh38]
Chr19:51191273 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1369G>T (p.Ala457Ser) single nucleotide variant not provided [RCV003318003] Chr19:50703684 [GRCh38]
Chr19:51206941 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1665C>T (p.Pro555=) single nucleotide variant not provided [RCV000963187] Chr19:50702549 [GRCh38]
Chr19:51205806 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.999G>C (p.Leu333=) single nucleotide variant not provided [RCV000910527] Chr19:50711449 [GRCh38]
Chr19:51214706 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.816C>T (p.Ser272=) single nucleotide variant not provided [RCV000919087] Chr19:50712091 [GRCh38]
Chr19:51215348 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.4812T>A (p.Pro1604=) single nucleotide variant not provided [RCV000975951] Chr19:50667148 [GRCh38]
Chr19:51170405 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.4479G>A (p.Arg1493=) single nucleotide variant not provided [RCV000897030] Chr19:50667481 [GRCh38]
Chr19:51170738 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.144T>C (p.Pro48=) single nucleotide variant not provided [RCV000929845] Chr19:50716776 [GRCh38]
Chr19:51220033 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.6075C>T (p.Ser2025=) single nucleotide variant not provided [RCV000953095] Chr19:50662376 [GRCh38]
Chr19:51165633 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.189C>T (p.Ser63=) single nucleotide variant not provided [RCV000929991] Chr19:50716731 [GRCh38]
Chr19:51219988 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.6186C>T (p.Ser2062=) single nucleotide variant not provided [RCV000981864] Chr19:50662265 [GRCh38]
Chr19:51165522 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.6271G>T (p.Gly2091Cys) single nucleotide variant SHANK1-related disorder [RCV003922984]|not provided [RCV000901921] Chr19:50662180 [GRCh38]
Chr19:51165437 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.1554-4G>A single nucleotide variant not provided [RCV000950854] Chr19:50702664 [GRCh38]
Chr19:51205921 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.5070C>T (p.Thr1690=) single nucleotide variant not provided [RCV000973609] Chr19:50666890 [GRCh38]
Chr19:51170147 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.6458G>A (p.Arg2153Gln) single nucleotide variant not provided [RCV001665317] Chr19:50661993 [GRCh38]
Chr19:51165250 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5471C>T (p.Pro1824Leu) single nucleotide variant See cases [RCV001198459] Chr19:50666489 [GRCh38]
Chr19:51169746 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3411C>G (p.Ser1137=) single nucleotide variant not provided [RCV000891317] Chr19:50668549 [GRCh38]
Chr19:51171806 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.3384C>G (p.Pro1128=) single nucleotide variant not provided [RCV000933658] Chr19:50668576 [GRCh38]
Chr19:51171833 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.1861+7C>T single nucleotide variant not provided [RCV000955756] Chr19:50697836 [GRCh38]
Chr19:51201093 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.1008C>T (p.Tyr336=) single nucleotide variant not provided [RCV000913701] Chr19:50711440 [GRCh38]
Chr19:51214697 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.1207C>A (p.Arg403=) single nucleotide variant SHANK1-related disorder [RCV003903315]|not provided [RCV000957988] Chr19:50704135 [GRCh38]
Chr19:51207392 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_016148.5(SHANK1):c.5420C>T (p.Pro1807Leu) single nucleotide variant not provided [RCV000890600] Chr19:50666540 [GRCh38]
Chr19:51169797 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.122G>A (p.Arg41Gln) single nucleotide variant not provided [RCV001658894] Chr19:50716798 [GRCh38]
Chr19:51220055 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2114T>A (p.Val705Glu) single nucleotide variant not provided [RCV002466968] Chr19:50688902 [GRCh38]
Chr19:51192159 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6361G>A (p.Asp2121Asn) single nucleotide variant not provided [RCV001091262] Chr19:50662090 [GRCh38]
Chr19:51165347 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
NM_016148.5(SHANK1):c.1750C>T (p.Leu584Phe) single nucleotide variant Intellectual disability [RCV001251634] Chr19:50697954 [GRCh38]
Chr19:51201211 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.5690G>T (p.Gly1897Val) single nucleotide variant Intellectual disability [RCV001257738] Chr19:50666270 [GRCh38]
Chr19:51169527 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_016148.5(SHANK1):c.6037C>T (p.Pro2013Ser) single nucleotide variant not provided [RCV002244308] Chr19:50662414 [GRCh38]
Chr19:51165671 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6428C>A (p.Thr2143Asn) single nucleotide variant not provided [RCV003104790] Chr19:50662023 [GRCh38]
Chr19:51165280 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5768G>A (p.Arg1923Lys) single nucleotide variant not provided [RCV002255053] Chr19:50666192 [GRCh38]
Chr19:51169449 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2899C>G (p.Pro967Ala) single nucleotide variant not provided [RCV001769283] Chr19:50669061 [GRCh38]
Chr19:51172318 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1450G>C (p.Gly484Arg) single nucleotide variant Inborn genetic diseases [RCV003295205] Chr19:50703603 [GRCh38]
Chr19:51206860 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2551C>T (p.Arg851Ter) single nucleotide variant not provided [RCV001767306] Chr19:50686263 [GRCh38]
Chr19:51189520 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5258C>T (p.Thr1753Ile) single nucleotide variant not provided [RCV001752791] Chr19:50666702 [GRCh38]
Chr19:51169959 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4055C>G (p.Pro1352Arg) single nucleotide variant not provided [RCV001769036] Chr19:50667905 [GRCh38]
Chr19:51171162 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5876C>T (p.Ser1959Phe) single nucleotide variant not provided [RCV001770951] Chr19:50662575 [GRCh38]
Chr19:51165832 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2137C>T (p.Arg713Ter) single nucleotide variant Intellectual disability [RCV002287506]|not provided [RCV001758679] Chr19:50688879 [GRCh38]
Chr19:51192136 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
NM_016148.5(SHANK1):c.4022C>T (p.Pro1341Leu) single nucleotide variant Inborn genetic diseases [RCV004656656]|not provided [RCV001806974] Chr19:50667938 [GRCh38]
Chr19:51171195 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3865G>A (p.Asp1289Asn) single nucleotide variant not provided [RCV001806930] Chr19:50668095 [GRCh38]
Chr19:51171352 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3605C>T (p.Pro1202Leu) single nucleotide variant not provided [RCV001839233] Chr19:50668355 [GRCh38]
Chr19:51171612 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NC_000019.9:g.(?_50887648)_(51364623_?)dup duplication Colorectal cancer, susceptibility to, 10 [RCV001916525] Chr19:50887648..51364623 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3142C>T (p.Arg1048Ter) single nucleotide variant not provided [RCV002226179] Chr19:50668818 [GRCh38]
Chr19:51172075 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_016148.5(SHANK1):c.4405C>T (p.Pro1469Ser) single nucleotide variant not provided [RCV002226011] Chr19:50667555 [GRCh38]
Chr19:51170812 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter) single nucleotide variant Global developmental delay [RCV002245514] Chr19:50688867 [GRCh38]
Chr19:51192124 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_016148.5(SHANK1):c.1198C>T (p.Arg400Ter) single nucleotide variant not provided [RCV002222784] Chr19:50704144 [GRCh38]
Chr19:51207401 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_016148.5(SHANK1):c.2363C>G (p.Ser788Cys) single nucleotide variant not provided [RCV003123310] Chr19:50687608 [GRCh38]
Chr19:51190865 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5941C>A (p.Arg1981Ser) single nucleotide variant Inborn genetic diseases [RCV003276125] Chr19:50662510 [GRCh38]
Chr19:51165767 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3181G>A (p.Ala1061Thr) single nucleotide variant not provided [RCV003233363] Chr19:50668779 [GRCh38]
Chr19:51172036 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5902del (p.Ala1968fs) deletion not provided [RCV002275405] Chr19:50662549 [GRCh38]
Chr19:51165806 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4658C>T (p.Ser1553Leu) single nucleotide variant not provided [RCV002276322] Chr19:50667302 [GRCh38]
Chr19:51170559 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2765C>T (p.Pro922Leu) single nucleotide variant not provided [RCV002265499] Chr19:50669195 [GRCh38]
Chr19:51172452 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.158C>T (p.Ser53Phe) single nucleotide variant not provided [RCV002281259] Chr19:50716762 [GRCh38]
Chr19:51220019 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4030G>C (p.Gly1344Arg) single nucleotide variant not provided [RCV002287035] Chr19:50667930 [GRCh38]
Chr19:51171187 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3785C>A (p.Ala1262Glu) single nucleotide variant not provided [RCV002265199] Chr19:50668175 [GRCh38]
Chr19:51171432 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2090C>T (p.Pro697Leu) single nucleotide variant not provided [RCV002292142] Chr19:50688926 [GRCh38]
Chr19:51192183 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1882_1883del (p.Lys628fs) deletion Intellectual disability [RCV002287592] Chr19:50697643..50697644 [GRCh38]
Chr19:51200900..51200901 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_016148.5(SHANK1):c.4088C>A (p.Ala1363Glu) single nucleotide variant not provided [RCV003231949] Chr19:50667872 [GRCh38]
Chr19:51171129 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1327A>G (p.Met443Val) single nucleotide variant not provided [RCV002267400] Chr19:50703726 [GRCh38]
Chr19:51206983 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.52G>C (p.Glu18Gln) single nucleotide variant Inborn genetic diseases [RCV003261429] Chr19:50716868 [GRCh38]
Chr19:51220125 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4886G>T (p.Ser1629Ile) single nucleotide variant not provided [RCV003149263] Chr19:50667074 [GRCh38]
Chr19:51170331 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:50883114-51304591)x3 copy number gain not provided [RCV002474601] Chr19:50883114..51304591 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2695C>G (p.Pro899Ala) single nucleotide variant not provided [RCV002464951] Chr19:50669265 [GRCh38]
Chr19:51172522 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4648C>G (p.Pro1550Ala) single nucleotide variant not provided [RCV002305983] Chr19:50667312 [GRCh38]
Chr19:51170569 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4250G>T (p.Arg1417Leu) single nucleotide variant Inborn genetic diseases [RCV002772574] Chr19:50667710 [GRCh38]
Chr19:51170967 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1223-3C>T single nucleotide variant Inborn genetic diseases [RCV002841363] Chr19:50703833 [GRCh38]
Chr19:51207090 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5213G>C (p.Gly1738Ala) single nucleotide variant Inborn genetic diseases [RCV002841420] Chr19:50666747 [GRCh38]
Chr19:51170004 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5417C>T (p.Pro1806Leu) single nucleotide variant Inborn genetic diseases [RCV002883177] Chr19:50666543 [GRCh38]
Chr19:51169800 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5119A>G (p.Ser1707Gly) single nucleotide variant Inborn genetic diseases [RCV002686479] Chr19:50666841 [GRCh38]
Chr19:51170098 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3710T>G (p.Val1237Gly) single nucleotide variant Inborn genetic diseases [RCV002974466] Chr19:50668250 [GRCh38]
Chr19:51171507 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5971C>T (p.Arg1991Trp) single nucleotide variant Inborn genetic diseases [RCV002727743] Chr19:50662480 [GRCh38]
Chr19:51165737 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1385C>G (p.Pro462Arg) single nucleotide variant not provided [RCV002511410] Chr19:50703668 [GRCh38]
Chr19:51206925 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2921C>T (p.Ser974Phe) single nucleotide variant Inborn genetic diseases [RCV002683451] Chr19:50669039 [GRCh38]
Chr19:51172296 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.199G>A (p.Asp67Asn) single nucleotide variant Inborn genetic diseases [RCV002683453] Chr19:50716721 [GRCh38]
Chr19:51219978 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2990ACC[2] (p.His999del) microsatellite Inborn genetic diseases [RCV002859452] Chr19:50668962..50668964 [GRCh38]
Chr19:51172219..51172221 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1612G>A (p.Gly538Arg) single nucleotide variant Inborn genetic diseases [RCV002734074] Chr19:50702602 [GRCh38]
Chr19:51205859 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2659C>T (p.Arg887Trp) single nucleotide variant Inborn genetic diseases [RCV002865711] Chr19:50672033 [GRCh38]
Chr19:51175290 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3170C>G (p.Pro1057Arg) single nucleotide variant Inborn genetic diseases [RCV002946692] Chr19:50668790 [GRCh38]
Chr19:51172047 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1408G>A (p.Gly470Ser) single nucleotide variant Inborn genetic diseases [RCV002882912] Chr19:50703645 [GRCh38]
Chr19:51206902 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2678C>T (p.Ala893Val) single nucleotide variant Inborn genetic diseases [RCV002574749]|not provided [RCV002511470] Chr19:50669282 [GRCh38]
Chr19:51172539 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5768+2T>G single nucleotide variant not provided [RCV002908235] Chr19:50666190 [GRCh38]
Chr19:51169447 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2579C>T (p.Ser860Leu) single nucleotide variant Inborn genetic diseases [RCV002818587] Chr19:50672113 [GRCh38]
Chr19:51175370 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1776G>A (p.Trp592Ter) single nucleotide variant not provided [RCV002640331] Chr19:50697928 [GRCh38]
Chr19:51201185 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_016148.5(SHANK1):c.5956G>A (p.Val1986Met) single nucleotide variant Inborn genetic diseases [RCV002981431] Chr19:50662495 [GRCh38]
Chr19:51165752 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.4769A>C (p.His1590Pro) single nucleotide variant Inborn genetic diseases [RCV002799133] Chr19:50667191 [GRCh38]
Chr19:51170448 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5296G>C (p.Gly1766Arg) single nucleotide variant Inborn genetic diseases [RCV002912166] Chr19:50666664 [GRCh38]
Chr19:51169921 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6167C>T (p.Pro2056Leu) single nucleotide variant Inborn genetic diseases [RCV002704631]|not provided [RCV003883942] Chr19:50662284 [GRCh38]
Chr19:51165541 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_016148.5(SHANK1):c.4921G>A (p.Ala1641Thr) single nucleotide variant Inborn genetic diseases [RCV002822013] Chr19:50667039 [GRCh38]
Chr19:51170296 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5008G>A (p.Gly1670Ser) single nucleotide variant not provided [RCV002756770] Chr19:50666952 [GRCh38]
Chr19:51170209 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5165C>T (p.Pro1722Leu) single nucleotide variant Inborn genetic diseases [RCV002660501] Chr19:50666795 [GRCh38]
Chr19:51170052 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5734G>A (p.Val1912Ile) single nucleotide variant Inborn genetic diseases [RCV002781708] Chr19:50666226 [GRCh38]
Chr19:51169483 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4823C>G (p.Pro1608Arg) single nucleotide variant Inborn genetic diseases [RCV002799032] Chr19:50667137 [GRCh38]
Chr19:51170394 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1313A>G (p.Asn438Ser) single nucleotide variant not provided [RCV002760898] Chr19:50703740 [GRCh38]
Chr19:51206997 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5970G>A (p.Met1990Ile) single nucleotide variant Inborn genetic diseases [RCV002691291] Chr19:50662481 [GRCh38]
Chr19:51165738 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2153T>C (p.Met718Thr) single nucleotide variant Inborn genetic diseases [RCV002911150] Chr19:50688863 [GRCh38]
Chr19:51192120 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1369G>C (p.Ala457Pro) single nucleotide variant Inborn genetic diseases [RCV002884855] Chr19:50703684 [GRCh38]
Chr19:51206941 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6215C>T (p.Ala2072Val) single nucleotide variant Inborn genetic diseases [RCV002692134] Chr19:50662236 [GRCh38]
Chr19:51165493 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2404C>T (p.Pro802Ser) single nucleotide variant Inborn genetic diseases [RCV003001518] Chr19:50686798 [GRCh38]
Chr19:51190055 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.4154A>G (p.Tyr1385Cys) single nucleotide variant Inborn genetic diseases [RCV002744245] Chr19:50667806 [GRCh38]
Chr19:51171063 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4252C>T (p.Arg1418Trp) single nucleotide variant not provided [RCV002745370] Chr19:50667708 [GRCh38]
Chr19:51170965 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6391G>A (p.Ala2131Thr) single nucleotide variant Inborn genetic diseases [RCV002830740] Chr19:50662060 [GRCh38]
Chr19:51165317 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4414G>A (p.Gly1472Arg) single nucleotide variant Inborn genetic diseases [RCV002956272] Chr19:50667546 [GRCh38]
Chr19:51170803 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1358C>T (p.Ala453Val) single nucleotide variant not provided [RCV003022382] Chr19:50703695 [GRCh38]
Chr19:51206952 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1015G>A (p.Glu339Lys) single nucleotide variant Inborn genetic diseases [RCV002803650]|not provided [RCV004572818] Chr19:50711433 [GRCh38]
Chr19:51214690 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4310C>G (p.Pro1437Arg) single nucleotide variant Inborn genetic diseases [RCV002892646] Chr19:50667650 [GRCh38]
Chr19:51170907 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4300C>T (p.Pro1434Ser) single nucleotide variant Inborn genetic diseases [RCV002931138] Chr19:50667660 [GRCh38]
Chr19:51170917 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.370A>T (p.Thr124Ser) single nucleotide variant not provided [RCV002595275] Chr19:50716364 [GRCh38]
Chr19:51219621 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6139G>C (p.Ala2047Pro) single nucleotide variant Inborn genetic diseases [RCV002645253] Chr19:50662312 [GRCh38]
Chr19:51165569 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2383G>A (p.Glu795Lys) single nucleotide variant Inborn genetic diseases [RCV002767882] Chr19:50687588 [GRCh38]
Chr19:51190845 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2812G>A (p.Val938Ile) single nucleotide variant Inborn genetic diseases [RCV002641298] Chr19:50669148 [GRCh38]
Chr19:51172405 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4117G>C (p.Ala1373Pro) single nucleotide variant Inborn genetic diseases [RCV002764762] Chr19:50667843 [GRCh38]
Chr19:51171100 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4124A>T (p.Gln1375Leu) single nucleotide variant Inborn genetic diseases [RCV002813084] Chr19:50667836 [GRCh38]
Chr19:51171093 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1360C>T (p.Pro454Ser) single nucleotide variant Inborn genetic diseases [RCV002768874] Chr19:50703693 [GRCh38]
Chr19:51206950 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.134G>T (p.Ser45Ile) single nucleotide variant Inborn genetic diseases [RCV002960057] Chr19:50716786 [GRCh38]
Chr19:51220043 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4505C>T (p.Ala1502Val) single nucleotide variant Inborn genetic diseases [RCV002935422] Chr19:50667455 [GRCh38]
Chr19:51170712 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3695T>G (p.Phe1232Cys) single nucleotide variant Inborn genetic diseases [RCV002714440] Chr19:50668265 [GRCh38]
Chr19:51171522 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5672T>C (p.Leu1891Pro) single nucleotide variant Inborn genetic diseases [RCV002896472] Chr19:50666288 [GRCh38]
Chr19:51169545 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5891C>T (p.Ala1964Val) single nucleotide variant Inborn genetic diseases [RCV002897159] Chr19:50662560 [GRCh38]
Chr19:51165817 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2984C>T (p.Pro995Leu) single nucleotide variant Inborn genetic diseases [RCV002669009] Chr19:50668976 [GRCh38]
Chr19:51172233 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5137G>A (p.Gly1713Arg) single nucleotide variant Inborn genetic diseases [RCV002669050] Chr19:50666823 [GRCh38]
Chr19:51170080 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4070T>C (p.Leu1357Pro) single nucleotide variant Inborn genetic diseases [RCV002898420] Chr19:50667890 [GRCh38]
Chr19:51171147 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1525G>A (p.Ala509Thr) single nucleotide variant Inborn genetic diseases [RCV002935263] Chr19:50703528 [GRCh38]
Chr19:51206785 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3004CAC[11] (p.His1007_Ala1008insHisHisHisHisHis) microsatellite not provided [RCV003090370] Chr19:50668938..50668939 [GRCh38]
Chr19:51172195..51172196 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5849C>T (p.Pro1950Leu) single nucleotide variant Inborn genetic diseases [RCV002831586] Chr19:50662602 [GRCh38]
Chr19:51165859 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1249G>A (p.Ala417Thr) single nucleotide variant Inborn genetic diseases [RCV002719847] Chr19:50703804 [GRCh38]
Chr19:51207061 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.5537C>T (p.Pro1846Leu) single nucleotide variant Inborn genetic diseases [RCV002940229] Chr19:50666423 [GRCh38]
Chr19:51169680 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6244C>G (p.Leu2082Val) single nucleotide variant Inborn genetic diseases [RCV002718798] Chr19:50662207 [GRCh38]
Chr19:51165464 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1208G>A (p.Arg403Gln) single nucleotide variant Inborn genetic diseases [RCV002940147] Chr19:50704134 [GRCh38]
Chr19:51207391 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3752G>A (p.Arg1251His) single nucleotide variant not provided [RCV003088294] Chr19:50668208 [GRCh38]
Chr19:51171465 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4456G>A (p.Glu1486Lys) single nucleotide variant Inborn genetic diseases [RCV002717817] Chr19:50667504 [GRCh38]
Chr19:51170761 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3226T>C (p.Ser1076Pro) single nucleotide variant Inborn genetic diseases [RCV002941635] Chr19:50668734 [GRCh38]
Chr19:51171991 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.16G>A (p.Ala6Thr) single nucleotide variant Inborn genetic diseases [RCV002674834] Chr19:50716904 [GRCh38]
Chr19:51220161 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.3716C>G (p.Ala1239Gly) single nucleotide variant Inborn genetic diseases [RCV002769416] Chr19:50668244 [GRCh38]
Chr19:51171501 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5428G>A (p.Gly1810Ser) single nucleotide variant Inborn genetic diseases [RCV002964923] Chr19:50666532 [GRCh38]
Chr19:51169789 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1505G>A (p.Arg502Gln) single nucleotide variant Inborn genetic diseases [RCV002896834] Chr19:50703548 [GRCh38]
Chr19:51206805 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1607G>C (p.Gly536Ala) single nucleotide variant Inborn genetic diseases [RCV002831248] Chr19:50702607 [GRCh38]
Chr19:51205864 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6373G>A (p.Asp2125Asn) single nucleotide variant Inborn genetic diseases [RCV002724505] Chr19:50662078 [GRCh38]
Chr19:51165335 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1630C>A (p.Arg544Ser) single nucleotide variant not provided [RCV003129022] Chr19:50702584 [GRCh38]
Chr19:51205841 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3276_3281del (p.Ser1093_Ala1094del) deletion not provided [RCV004698988] Chr19:50668679..50668684 [GRCh38]
Chr19:51171936..51171941 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5441G>T (p.Gly1814Val) single nucleotide variant Inborn genetic diseases [RCV003199860] Chr19:50666519 [GRCh38]
Chr19:51169776 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3113G>A (p.Arg1038His) single nucleotide variant Inborn genetic diseases [RCV003190216] Chr19:50668847 [GRCh38]
Chr19:51172104 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2243C>T (p.Thr748Met) single nucleotide variant Inborn genetic diseases [RCV003205578] Chr19:50687988 [GRCh38]
Chr19:51191245 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4085G>A (p.Arg1362Gln) single nucleotide variant Inborn genetic diseases [RCV003201845] Chr19:50667875 [GRCh38]
Chr19:51171132 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4592C>T (p.Pro1531Leu) single nucleotide variant Inborn genetic diseases [RCV003202934] Chr19:50667368 [GRCh38]
Chr19:51170625 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2621G>T (p.Arg874Leu) single nucleotide variant Inborn genetic diseases [RCV003189824] Chr19:50672071 [GRCh38]
Chr19:51175328 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1240C>T (p.Pro414Ser) single nucleotide variant not provided [RCV003229189] Chr19:50703813 [GRCh38]
Chr19:51207070 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4454C>T (p.Pro1485Leu) single nucleotide variant Inborn genetic diseases [RCV003174184] Chr19:50667506 [GRCh38]
Chr19:51170763 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.1840C>T (p.Arg614Cys) single nucleotide variant Inborn genetic diseases [RCV003200506] Chr19:50697864 [GRCh38]
Chr19:51201121 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1478G>C (p.Arg493Pro) single nucleotide variant not provided [RCV003214140] Chr19:50703575 [GRCh38]
Chr19:51206832 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6080C>A (p.Pro2027His) single nucleotide variant Inborn genetic diseases [RCV003184460] Chr19:50662371 [GRCh38]
Chr19:51165628 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.6214G>A (p.Ala2072Thr) single nucleotide variant Inborn genetic diseases [RCV003197042] Chr19:50662237 [GRCh38]
Chr19:51165494 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2138G>A (p.Arg713Gln) single nucleotide variant Inborn genetic diseases [RCV003198165] Chr19:50688878 [GRCh38]
Chr19:51192135 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2878G>A (p.Gly960Ser) single nucleotide variant not provided [RCV003228390] Chr19:50669082 [GRCh38]
Chr19:51172339 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6041C>T (p.Ala2014Val) single nucleotide variant Inborn genetic diseases [RCV003180558] Chr19:50662410 [GRCh38]
Chr19:51165667 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.892G>A (p.Glu298Lys) single nucleotide variant not provided [RCV003228477] Chr19:50712015 [GRCh38]
Chr19:51215272 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6005C>T (p.Ser2002Leu) single nucleotide variant Inborn genetic diseases [RCV003184599] Chr19:50662446 [GRCh38]
Chr19:51165703 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1592C>T (p.Thr531Met) single nucleotide variant Inborn genetic diseases [RCV003202907] Chr19:50702622 [GRCh38]
Chr19:51205879 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.812G>C (p.Gly271Ala) single nucleotide variant Inborn genetic diseases [RCV003191778] Chr19:50712095 [GRCh38]
Chr19:51215352 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4627C>T (p.Pro1543Ser) single nucleotide variant not provided [RCV003227133] Chr19:50667333 [GRCh38]
Chr19:51170590 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5952G>C (p.Gln1984His) single nucleotide variant not provided [RCV003321416] Chr19:50662499 [GRCh38]
Chr19:51165756 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4669G>A (p.Glu1557Lys) single nucleotide variant not provided [RCV003329582] Chr19:50667291 [GRCh38]
Chr19:51170548 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1413G>C (p.Gln471His) single nucleotide variant not provided [RCV003329074] Chr19:50703640 [GRCh38]
Chr19:51206897 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5149G>C (p.Gly1717Arg) single nucleotide variant not provided [RCV003329090] Chr19:50666811 [GRCh38]
Chr19:51170068 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5088G>T (p.Thr1696=) single nucleotide variant not provided [RCV003425381] Chr19:50666872 [GRCh38]
Chr19:51170129 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2048-8G>T single nucleotide variant not provided [RCV003425384] Chr19:50688976 [GRCh38]
Chr19:51192233 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.44G>C (p.Ser15Thr) single nucleotide variant Inborn genetic diseases [RCV003357565] Chr19:50716876 [GRCh38]
Chr19:51220133 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4267A>G (p.Arg1423Gly) single nucleotide variant Inborn genetic diseases [RCV003342297]|not provided [RCV003549067] Chr19:50667693 [GRCh38]
Chr19:51170950 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.92A>G (p.Asp31Gly) single nucleotide variant Inborn genetic diseases [RCV003358944] Chr19:50716828 [GRCh38]
Chr19:51220085 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1145C>A (p.Thr382Asn) single nucleotide variant Inborn genetic diseases [RCV003345543] Chr19:50704447 [GRCh38]
Chr19:51207704 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6187G>A (p.Gly2063Arg) single nucleotide variant Inborn genetic diseases [RCV003381486] Chr19:50662264 [GRCh38]
Chr19:51165521 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2381A>G (p.Glu794Gly) single nucleotide variant not provided [RCV003332695] Chr19:50687590 [GRCh38]
Chr19:51190847 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5009G>C (p.Gly1670Ala) single nucleotide variant Inborn genetic diseases [RCV003351155] Chr19:50666951 [GRCh38]
Chr19:51170208 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.670G>A (p.Glu224Lys) single nucleotide variant Inborn genetic diseases [RCV003375011] Chr19:50713920 [GRCh38]
Chr19:51217177 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3505G>A (p.Gly1169Ser) single nucleotide variant not provided [RCV003571117] Chr19:50668455 [GRCh38]
Chr19:51171712 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
NM_016148.5(SHANK1):c.3410C>T (p.Ser1137Phe) single nucleotide variant not provided [RCV003441606] Chr19:50668550 [GRCh38]
Chr19:51171807 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5261C>T (p.Pro1754Leu) single nucleotide variant not provided [RCV003442314] Chr19:50666699 [GRCh38]
Chr19:51169956 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2104C>A (p.Leu702Met) single nucleotide variant not provided [RCV003442594] Chr19:50688912 [GRCh38]
Chr19:51192169 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5441dup (p.Pro1815fs) duplication not provided [RCV003425380] Chr19:50666518..50666519 [GRCh38]
Chr19:51169775..51169776 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4296C>A (p.Ser1432=) single nucleotide variant not provided [RCV003425383] Chr19:50667664 [GRCh38]
Chr19:51170921 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.589C>T (p.Arg197Trp) single nucleotide variant SHANK1-related disorder [RCV003402626] Chr19:50714233 [GRCh38]
Chr19:51217490 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2388G>A (p.Met796Ile) single nucleotide variant not provided [RCV003407087] Chr19:50687583 [GRCh38]
Chr19:51190840 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4407del (p.His1470fs) deletion not provided [RCV003441196] Chr19:50667553 [GRCh38]
Chr19:51170810 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_016148.5(SHANK1):c.5324G>T (p.Gly1775Val) single nucleotide variant not provided [RCV003456609] Chr19:50666636 [GRCh38]
Chr19:51169893 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5458C>T (p.Pro1820Ser) single nucleotide variant not provided [RCV003415392] Chr19:50666502 [GRCh38]
Chr19:51169759 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3027G>C (p.Pro1009=) single nucleotide variant not provided [RCV003415393] Chr19:50668933 [GRCh38]
Chr19:51172190 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2806C>A (p.Pro936Thr) single nucleotide variant not provided [RCV003443404] Chr19:50669154 [GRCh38]
Chr19:51172411 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1118A>G (p.Lys373Arg) single nucleotide variant SHANK1-related Neurodevelopmental Disorder [RCV003448569] Chr19:50704474 [GRCh38]
Chr19:51207731 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4400C>G (p.Pro1467Arg) single nucleotide variant SHANK1-related disorder [RCV003392751] Chr19:50667560 [GRCh38]
Chr19:51170817 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4954G>C (p.Ala1652Pro) single nucleotide variant SHANK1-related disorder [RCV003397501] Chr19:50667006 [GRCh38]
Chr19:51170263 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4367G>A (p.Gly1456Glu) single nucleotide variant SHANK1-related disorder [RCV003392904] Chr19:50667593 [GRCh38]
Chr19:51170850 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1296G>A (p.Pro432=) single nucleotide variant not provided [RCV003425385] Chr19:50703757 [GRCh38]
Chr19:51207014 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2405C>T (p.Pro802Leu) single nucleotide variant SHANK1-related disorder [RCV003399605] Chr19:50686797 [GRCh38]
Chr19:51190054 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4443C>T (p.Ala1481=) single nucleotide variant not provided [RCV003425382] Chr19:50667517 [GRCh38]
Chr19:51170774 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.1965-81G>A single nucleotide variant not provided [RCV003407088] Chr19:50689360 [GRCh38]
Chr19:51192617 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.3530C>G (p.Thr1177Ser) single nucleotide variant not provided [RCV003491473] Chr19:50668430 [GRCh38]
Chr19:51171687 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4444C>T (p.Pro1482Ser) single nucleotide variant not provided [RCV003692285] Chr19:50667516 [GRCh38]
Chr19:51170773 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3965G>T (p.Gly1322Val) single nucleotide variant not provided [RCV003491475] Chr19:50667995 [GRCh38]
Chr19:51171252 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5282C>T (p.Ala1761Val) single nucleotide variant not provided [RCV003491472] Chr19:50666678 [GRCh38]
Chr19:51169935 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.101G>A (p.Gly34Asp) single nucleotide variant not provided [RCV003491474] Chr19:50716819 [GRCh38]
Chr19:51220076 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2809C>G (p.Pro937Ala) single nucleotide variant not provided [RCV003551338] Chr19:50669151 [GRCh38]
Chr19:51172408 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1426G>A (p.Ala476Thr) single nucleotide variant not provided [RCV003841589] Chr19:50703627 [GRCh38]
Chr19:51206884 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1082C>A (p.Thr361Asn) single nucleotide variant not provided [RCV003706337] Chr19:50704510 [GRCh38]
Chr19:51207767 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_016148.5(SHANK1):c.4535C>T (p.Ser1512Leu) single nucleotide variant not provided [RCV003683291] Chr19:50667425 [GRCh38]
Chr19:51170682 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5732A>G (p.Tyr1911Cys) single nucleotide variant SHANK1-related disorder [RCV003919572] Chr19:50666228 [GRCh38]
Chr19:51169485 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.3947G>A (p.Gly1316Asp) single nucleotide variant SHANK1-related disorder [RCV003907170] Chr19:50668013 [GRCh38]
Chr19:51171270 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.5468C>T (p.Pro1823Leu) single nucleotide variant not provided [RCV003993411] Chr19:50666492 [GRCh38]
Chr19:51169749 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3564G>C (p.Thr1188=) single nucleotide variant not provided [RCV003993062] Chr19:50668396 [GRCh38]
Chr19:51171653 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2691C>G (p.Asp897Glu) single nucleotide variant SHANK1-related disorder [RCV003982111] Chr19:50669269 [GRCh38]
Chr19:51172526 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.5889T>C (p.Ala1963=) single nucleotide variant SHANK1-related disorder [RCV003949650] Chr19:50662562 [GRCh38]
Chr19:51165819 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.4899C>T (p.Thr1633=) single nucleotide variant SHANK1-related disorder [RCV003961677] Chr19:50667061 [GRCh38]
Chr19:51170318 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.3629C>A (p.Ser1210Tyr) single nucleotide variant SHANK1-related disorder [RCV003909710]|not provided [RCV004573423] Chr19:50668331 [GRCh38]
Chr19:51171588 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_016148.5(SHANK1):c.2397G>A (p.Glu799=) single nucleotide variant SHANK1-related disorder [RCV003981478] Chr19:50686805 [GRCh38]
Chr19:51190062 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.762C>T (p.Ala254=) single nucleotide variant SHANK1-related disorder [RCV003934749] Chr19:50713828 [GRCh38]
Chr19:51217085 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.3360C>T (p.Pro1120=) single nucleotide variant SHANK1-related disorder [RCV003981866] Chr19:50668600 [GRCh38]
Chr19:51171857 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.330C>T (p.Ser110=) single nucleotide variant SHANK1-related disorder [RCV003963832] Chr19:50716404 [GRCh38]
Chr19:51219661 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.6420A>G (p.Leu2140=) single nucleotide variant SHANK1-related disorder [RCV003936812] Chr19:50662031 [GRCh38]
Chr19:51165288 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.1338C>A (p.Pro446=) single nucleotide variant SHANK1-related disorder [RCV003961689] Chr19:50703715 [GRCh38]
Chr19:51206972 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.705G>C (p.Leu235=) single nucleotide variant SHANK1-related disorder [RCV003961710] Chr19:50713885 [GRCh38]
Chr19:51217142 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.3405G>T (p.Pro1135=) single nucleotide variant SHANK1-related disorder [RCV003936987] Chr19:50668555 [GRCh38]
Chr19:51171812 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.5427A>T (p.Ala1809=) single nucleotide variant SHANK1-related disorder [RCV003907026] Chr19:50666533 [GRCh38]
Chr19:51169790 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.6156A>G (p.Pro2052=) single nucleotide variant SHANK1-related disorder [RCV003949394] Chr19:50662295 [GRCh38]
Chr19:51165552 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2308+8T>C single nucleotide variant SHANK1-related disorder [RCV003964322] Chr19:50687915 [GRCh38]
Chr19:51191172 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.2280G>A (p.Pro760=) single nucleotide variant SHANK1-related disorder [RCV003949640] Chr19:50687951 [GRCh38]
Chr19:51191208 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2804C>T (p.Thr935Ile) single nucleotide variant not provided [RCV004546923] Chr19:50669156 [GRCh38]
Chr19:51172413 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3989C>G (p.Thr1330Ser) single nucleotide variant SHANK1-related disorder [RCV003922072] Chr19:50667971 [GRCh38]
Chr19:51171228 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.1524C>T (p.Asp508=) single nucleotide variant SHANK1-related disorder [RCV003946931] Chr19:50703529 [GRCh38]
Chr19:51206786 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2391G>A (p.Glu797=) single nucleotide variant SHANK1-related disorder [RCV003962123] Chr19:50686811 [GRCh38]
Chr19:51190068 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.3815T>C (p.Leu1272Pro) single nucleotide variant SHANK1-related disorder [RCV003951538] Chr19:50668145 [GRCh38]
Chr19:51171402 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.1416G>A (p.Ser472=) single nucleotide variant SHANK1-related disorder [RCV003934107] Chr19:50703637 [GRCh38]
Chr19:51206894 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.69C>T (p.Gly23=) single nucleotide variant SHANK1-related disorder [RCV003934264] Chr19:50716851 [GRCh38]
Chr19:51220108 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.6267G>A (p.Pro2089=) single nucleotide variant SHANK1-related disorder [RCV003942202] Chr19:50662184 [GRCh38]
Chr19:51165441 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.3870G>A (p.Glu1290=) single nucleotide variant SHANK1-related disorder [RCV003934290] Chr19:50668090 [GRCh38]
Chr19:51171347 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2877T>C (p.Gly959=) single nucleotide variant SHANK1-related disorder [RCV003934591] Chr19:50669083 [GRCh38]
Chr19:51172340 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.3971G>A (p.Gly1324Glu) single nucleotide variant SHANK1-related disorder [RCV003901430] Chr19:50667989 [GRCh38]
Chr19:51171246 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1371G>A (p.Ala457=) single nucleotide variant SHANK1-related disorder [RCV003912276] Chr19:50703682 [GRCh38]
Chr19:51206939 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2206C>T (p.Arg736Ter) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557943]|Inborn genetic diseases [RCV004673898]|SHANK1-associated neurodevelopmental disorder [RCV003885350] Chr19:50688025 [GRCh38]
Chr19:51191282 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_016148.5(SHANK1):c.1507G>A (p.Gly503Arg) single nucleotide variant SHANK1-related disorder [RCV003893745] Chr19:50703546 [GRCh38]
Chr19:51206803 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5285_5308del (p.Leu1762_Arg1769del) deletion SHANK1-related disorder [RCV003914090] Chr19:50666652..50666675 [GRCh38]
Chr19:51169909..51169932 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2397delinsAA (p.Gln800fs) indel SHANK1-related disorder [RCV003914151] Chr19:50686805 [GRCh38]
Chr19:51190062 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_016148.5(SHANK1):c.532-3C>T single nucleotide variant SHANK1-related disorder [RCV003979574] Chr19:50714293 [GRCh38]
Chr19:51217550 [GRCh37]
Chr19:19q13.33		 benign
NM_016148.5(SHANK1):c.6249G>A (p.Ser2083=) single nucleotide variant SHANK1-related disorder [RCV003969175] Chr19:50662202 [GRCh38]
Chr19:51165459 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.370A>G (p.Thr124Ala) single nucleotide variant Inborn genetic diseases [RCV004450862] Chr19:50716364 [GRCh38]
Chr19:51219621 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5740G>A (p.Glu1914Lys) single nucleotide variant Inborn genetic diseases [RCV004450875] Chr19:50666220 [GRCh38]
Chr19:51169477 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.1114G>A (p.Asp372Asn) single nucleotide variant Inborn genetic diseases [RCV004450852] Chr19:50704478 [GRCh38]
Chr19:51207735 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.4586C>G (p.Pro1529Arg) single nucleotide variant Inborn genetic diseases [RCV004450866] Chr19:50667374 [GRCh38]
Chr19:51170631 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4955C>T (p.Ala1652Val) single nucleotide variant Inborn genetic diseases [RCV004450869] Chr19:50667005 [GRCh38]
Chr19:51170262 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5485A>C (p.Thr1829Pro) single nucleotide variant Inborn genetic diseases [RCV004450874] Chr19:50666475 [GRCh38]
Chr19:51169732 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.214A>G (p.Met72Val) single nucleotide variant Inborn genetic diseases [RCV004450857] Chr19:50716706 [GRCh38]
Chr19:51219963 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3878T>G (p.Phe1293Cys) single nucleotide variant Inborn genetic diseases [RCV004450863] Chr19:50668082 [GRCh38]
Chr19:51171339 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.4759G>A (p.Gly1587Arg) single nucleotide variant Inborn genetic diseases [RCV004450868] Chr19:50667201 [GRCh38]
Chr19:51170458 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4982C>T (p.Pro1661Leu) single nucleotide variant Inborn genetic diseases [RCV004450871] Chr19:50666978 [GRCh38]
Chr19:51170235 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5273G>A (p.Arg1758Gln) single nucleotide variant Inborn genetic diseases [RCV004450872] Chr19:50666687 [GRCh38]
Chr19:51169944 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5965G>A (p.Glu1989Lys) single nucleotide variant Inborn genetic diseases [RCV004450877] Chr19:50662486 [GRCh38]
Chr19:51165743 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6137C>T (p.Ser2046Leu) single nucleotide variant Inborn genetic diseases [RCV004450878] Chr19:50662314 [GRCh38]
Chr19:51165571 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2596C>A (p.His866Asn) single nucleotide variant Inborn genetic diseases [RCV004450858] Chr19:50672096 [GRCh38]
Chr19:51175353 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.4690G>A (p.Val1564Met) single nucleotide variant Inborn genetic diseases [RCV004450867] Chr19:50667270 [GRCh38]
Chr19:51170527 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.2048C>T (p.Ala683Val) single nucleotide variant SHANK1-related disorder [RCV004750479]|not provided [RCV004590522] Chr19:50688968 [GRCh38]
Chr19:51192225 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1594G>A (p.Gly532Arg) single nucleotide variant Inborn genetic diseases [RCV004450854] Chr19:50702620 [GRCh38]
Chr19:51205877 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2134T>C (p.Trp712Arg) single nucleotide variant Inborn genetic diseases [RCV004450856] Chr19:50688882 [GRCh38]
Chr19:51192139 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3707T>G (p.Leu1236Arg) single nucleotide variant Inborn genetic diseases [RCV004450861] Chr19:50668253 [GRCh38]
Chr19:51171510 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4524G>C (p.Arg1508Ser) single nucleotide variant Inborn genetic diseases [RCV004450865] Chr19:50667436 [GRCh38]
Chr19:51170693 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2911G>A (p.Asp971Asn) single nucleotide variant Inborn genetic diseases [RCV004450859] Chr19:50669049 [GRCh38]
Chr19:51172306 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3919G>A (p.Gly1307Ser) single nucleotide variant Inborn genetic diseases [RCV004450864] Chr19:50668041 [GRCh38]
Chr19:51171298 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3592C>G (p.Pro1198Ala) single nucleotide variant Inborn genetic diseases [RCV004450860] Chr19:50668368 [GRCh38]
Chr19:51171625 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5444C>T (p.Pro1815Leu) single nucleotide variant Inborn genetic diseases [RCV004450873] Chr19:50666516 [GRCh38]
Chr19:51169773 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.5806C>A (p.Pro1936Thr) single nucleotide variant Inborn genetic diseases [RCV004450876] Chr19:50662645 [GRCh38]
Chr19:51165902 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.794C>T (p.Ala265Val) single nucleotide variant Inborn genetic diseases [RCV004450879] Chr19:50712113 [GRCh38]
Chr19:51215370 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1576G>T (p.Gly526Trp) single nucleotide variant Inborn genetic diseases [RCV004661456] Chr19:50702638 [GRCh38]
Chr19:51205895 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.1265G>T (p.Gly422Val) single nucleotide variant Inborn genetic diseases [RCV004661458] Chr19:50703788 [GRCh38]
Chr19:51207045 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2405C>G (p.Pro802Arg) single nucleotide variant Inborn genetic diseases [RCV004661453] Chr19:50686797 [GRCh38]
Chr19:51190054 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.384T>G (p.Asp128Glu) single nucleotide variant Inborn genetic diseases [RCV004667300] Chr19:50716350 [GRCh38]
Chr19:51219607 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2395G>A (p.Glu799Lys) single nucleotide variant Inborn genetic diseases [RCV004667301] Chr19:50686807 [GRCh38]
Chr19:51190064 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4552G>A (p.Val1518Ile) single nucleotide variant Inborn genetic diseases [RCV004661455] Chr19:50667408 [GRCh38]
Chr19:51170665 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.68G>A (p.Gly23Asp) single nucleotide variant Inborn genetic diseases [RCV004661457] Chr19:50716852 [GRCh38]
Chr19:51220109 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4297C>G (p.Leu1433Val) single nucleotide variant Inborn genetic diseases [RCV004667295] Chr19:50667663 [GRCh38]
Chr19:51170920 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.1561G>A (p.Gly521Arg) single nucleotide variant Inborn genetic diseases [RCV004667296] Chr19:50702653 [GRCh38]
Chr19:51205910 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4843C>T (p.Pro1615Ser) single nucleotide variant Inborn genetic diseases [RCV004667298] Chr19:50667117 [GRCh38]
Chr19:51170374 [GRCh37]
Chr19:19q13.33		 likely benign
NM_016148.5(SHANK1):c.5090T>C (p.Leu1697Pro) single nucleotide variant Inborn genetic diseases [RCV004667299] Chr19:50666870 [GRCh38]
Chr19:51170127 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4489A>C (p.Asn1497His) single nucleotide variant Inborn genetic diseases [RCV004661450]|not provided [RCV004767668] Chr19:50667471 [GRCh38]
Chr19:51170728 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6221G>A (p.Arg2074His) single nucleotide variant Inborn genetic diseases [RCV004661454] Chr19:50662230 [GRCh38]
Chr19:51165487 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4933C>A (p.Pro1645Thr) single nucleotide variant Inborn genetic diseases [RCV004676350] Chr19:50667027 [GRCh38]
Chr19:51170284 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.40C>T (p.His14Tyr) single nucleotide variant Inborn genetic diseases [RCV004676351] Chr19:50716880 [GRCh38]
Chr19:51220137 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5261C>A (p.Pro1754His) single nucleotide variant Inborn genetic diseases [RCV004676352] Chr19:50666699 [GRCh38]
Chr19:51169956 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5894C>A (p.Ala1965Asp) single nucleotide variant not provided [RCV004760232]   uncertain significance
NM_016148.5(SHANK1):c.4357C>T (p.Pro1453Ser) single nucleotide variant not provided [RCV004768350] Chr19:50667603 [GRCh38]
Chr19:51170860 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.619T>G (p.Tyr207Asp) single nucleotide variant not provided [RCV004761420]   uncertain significance
NM_016148.5(SHANK1):c.6229T>C (p.Ser2077Pro) single nucleotide variant SHANK1-related disorder [RCV004750659] Chr19:50662222 [GRCh38]
Chr19:51165479 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.880C>A (p.Pro294Thr) single nucleotide variant not provided [RCV004773900] Chr19:50712027 [GRCh38]
Chr19:51215284 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5227C>T (p.Pro1743Ser) single nucleotide variant not provided [RCV004774183] Chr19:50666733 [GRCh38]
Chr19:51169990 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5068A>T (p.Thr1690Ser) single nucleotide variant SHANK1-related disorder [RCV004728316] Chr19:50666892 [GRCh38]
Chr19:51170149 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2297T>A (p.Val766Glu) single nucleotide variant not provided [RCV004769551] Chr19:50687934 [GRCh38]
Chr19:51191191 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3316C>T (p.Arg1106Cys) single nucleotide variant not provided [RCV004729518] Chr19:50668644 [GRCh38]
Chr19:51171901 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5849C>G (p.Pro1950Arg) single nucleotide variant not provided [RCV004723856] Chr19:50662602 [GRCh38]
Chr19:51165859 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5356A>G (p.Thr1786Ala) single nucleotide variant not provided [RCV004762433]   uncertain significance
NM_016148.5(SHANK1):c.1367C>G (p.Ala456Gly) single nucleotide variant not provided [RCV004770504] Chr19:50703686 [GRCh38]
Chr19:51206943 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.6143A>T (p.Asp2048Val) single nucleotide variant not provided [RCV004761119]   uncertain significance
NM_016148.5(SHANK1):c.1034C>T (p.Ala345Val) single nucleotide variant not provided [RCV004773594] Chr19:50711414 [GRCh38]
Chr19:51214671 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.239C>T (p.Pro80Leu) single nucleotide variant not provided [RCV004761225]   uncertain significance
NM_016148.5(SHANK1):c.6259_6267dup (p.Pro2089_Phe2090insAspLysPro) duplication SHANK1-related disorder [RCV004750518] Chr19:50662183..50662184 [GRCh38]
Chr19:51165440..51165441 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4150C>A (p.Arg1384Ser) single nucleotide variant not provided [RCV004769734] Chr19:50667810 [GRCh38]
Chr19:51171067 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.3592C>T (p.Pro1198Ser) single nucleotide variant SHANK1-related disorder [RCV004724450] Chr19:50668368 [GRCh38]
Chr19:51171625 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.5342C>A (p.Thr1781Asn) single nucleotide variant not provided [RCV004776089] Chr19:50666618 [GRCh38]
Chr19:51169875 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.2999_3016dup (p.His1005_His1006insProProHisHisHisHis) duplication not provided [RCV004773587] Chr19:50668943..50668944 [GRCh38]
Chr19:51172200..51172201 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_016148.5(SHANK1):c.4135A>G (p.Arg1379Gly) single nucleotide variant not provided [RCV004719572] Chr19:50667825 [GRCh38]
Chr19:51171082 [GRCh37]
Chr19:19q13.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3244
Count of miRNA genes:845
Interacting mature miRNAs:1028
Transcripts:ENST00000293441, ENST00000359082, ENST00000391813, ENST00000391814, ENST00000461154, ENST00000468654, ENST00000483128, ENST00000483981
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406956257GWAS605233_Hstem Cell Growth Factor-beta measurement QTL GWAS605233 (human)3e-30stem Cell Growth Factor-beta measurement195070283250702833Human
406893728GWAS542704_Hstem Cell Growth Factor-beta measurement QTL GWAS542704 (human)6e-49stem Cell Growth Factor-beta measurement195071903750719038Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
406956183GWAS605159_Hstem cell growth factor-alpha measurement QTL GWAS605159 (human)1e-43stem cell growth factor-alpha measurement195070283250702833Human
407173997GWAS822973_Hbreast carcinoma QTL GWAS822973 (human)0.000009breast carcinoma195065949950659500Human
407040792GWAS689768_Hcytotoxicity measurement, response to clozapine QTL GWAS689768 (human)0.000009cytotoxicity measurement, response to clozapine195068282450682825Human
407324029GWAS973005_Hinsomnia QTL GWAS973005 (human)2e-08insomnia195068988950689890Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
406918895GWAS567871_Hsystolic blood pressure QTL GWAS567871 (human)0.000004systolic blood pressuresystolic blood pressure (CMO:0000004)195068052350680524Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1202 2344 2763 2207 4907 1573 2090 4 481 1321 320 2252 6360 5788 44 3686 774 1678 1500 166

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_016148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF163302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF226728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY461451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU633092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU872208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000293441   ⟹   ENSP00000293441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,659,255 - 50,719,802 (-)Ensembl
Ensembl Acc Id: ENST00000359082   ⟹   ENSP00000351984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,661,965 - 50,716,919 (-)Ensembl
Ensembl Acc Id: ENST00000391813   ⟹   ENSP00000375689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,661,827 - 50,689,404 (-)Ensembl
Ensembl Acc Id: ENST00000391814   ⟹   ENSP00000375690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,661,941 - 50,719,450 (-)Ensembl
Ensembl Acc Id: ENST00000461154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,703,699 - 50,704,506 (-)Ensembl
Ensembl Acc Id: ENST00000468654   ⟹   ENSP00000469719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,662,334 - 50,666,733 (-)Ensembl
Ensembl Acc Id: ENST00000483128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,711,027 - 50,713,948 (-)Ensembl
Ensembl Acc Id: ENST00000483981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,662,334 - 50,663,169 (-)Ensembl
RefSeq Acc Id: NM_016148   ⟹   NP_057232
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,659,255 - 50,719,802 (-)NCBI
GRCh371951,163,052 - 51,220,195 (-)NCBI
Build 361955,856,896 - 55,912,007 (-)NCBI Archive
HuRef1947,499,910 - 47,555,290 (-)ENTREZGENE
CHM1_11951,164,298 - 51,221,938 (-)NCBI
T2T-CHM13v2.01953,747,980 - 53,808,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527013   ⟹   XP_011525315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,659,255 - 50,719,802 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527014   ⟹   XP_011525316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,659,255 - 50,719,802 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047438894   ⟹   XP_047294850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,659,255 - 50,695,346 (-)NCBI
RefSeq Acc Id: XM_054321137   ⟹   XP_054177112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01953,747,980 - 53,808,613 (-)NCBI
RefSeq Acc Id: XM_054321138   ⟹   XP_054177113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01953,747,980 - 53,808,613 (-)NCBI
RefSeq Acc Id: XM_054321139   ⟹   XP_054177114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01953,747,980 - 53,784,292 (-)NCBI
RefSeq Acc Id: NP_057232   ⟸   NM_016148
- UniProtKB: B7WNY6 (UniProtKB/Swiss-Prot),   A8MXP5 (UniProtKB/Swiss-Prot),   Q9NYW9 (UniProtKB/Swiss-Prot),   Q9Y566 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011525316   ⟸   XM_011527014
- Peptide Label: isoform X2
- UniProtKB: Q9Y566 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011525315   ⟸   XM_011527013
- Peptide Label: isoform X1
- UniProtKB: H9KV90 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000351984   ⟸   ENST00000359082
Ensembl Acc Id: ENSP00000293441   ⟸   ENST00000293441
Ensembl Acc Id: ENSP00000469719   ⟸   ENST00000468654
Ensembl Acc Id: ENSP00000375689   ⟸   ENST00000391813
Ensembl Acc Id: ENSP00000375690   ⟸   ENST00000391814
RefSeq Acc Id: XP_047294850   ⟸   XM_047438894
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054177113   ⟸   XM_054321138
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054177112   ⟸   XM_054321137
- Peptide Label: isoform X1
- UniProtKB: H9KV90 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054177114   ⟸   XM_054321139
- Peptide Label: isoform X3
Protein Domains
PDZ   SAM   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y566-F1-model_v2 AlphaFold Q9Y566 1-2161 view protein structure

Promoters
RGD ID:13205287
Promoter ID:EPDNEW_H26224
Type:multiple initiation site
Name:SHANK1_1
Description:SH3 and multiple ankyrin repeat domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,716,871 - 50,716,931EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15474 AgrOrtholog
COSMIC SHANK1 COSMIC
Ensembl Genes ENSG00000161681 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000293441 ENTREZGENE
  ENST00000293441.6 UniProtKB/Swiss-Prot
  ENST00000359082 ENTREZGENE
  ENST00000359082.3 UniProtKB/Swiss-Prot
  ENST00000391814 ENTREZGENE
  ENST00000391814.5 UniProtKB/TrEMBL
  ENST00000468654.2 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000161681 GTEx
HGNC ID HGNC:15474 ENTREZGENE
Human Proteome Map SHANK1 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:50944 UniProtKB/Swiss-Prot
NCBI Gene 50944 ENTREZGENE
OMIM 604999 OMIM
PANTHER SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37965 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MXP5 ENTREZGENE
  B7WNY6 ENTREZGENE
  H9KV90 ENTREZGENE, UniProtKB/TrEMBL
  M0QYB5_HUMAN UniProtKB/TrEMBL
  Q9NYW9 ENTREZGENE
  Q9Y566 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8MXP5 UniProtKB/Swiss-Prot
  B7WNY6 UniProtKB/Swiss-Prot
  Q9NYW9 UniProtKB/Swiss-Prot