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Table 1 1q22 microdeletions/duplications including ASH1L from public databases and literature

From: A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

Database/ LiteratureIndex IDVariantSizeInheritancePhenotype(s)Clinic Significance
This report/[GRCh37] 1q22 (155016052
_155952375)×1
936.3 KbPaternalIntellectual disability, behavioral problems, forehead, flat face, flat nasal bridge, short upturned nose, thin lips, small ears.Pathogenic
Faundes et al.*/[GRCh37] 1q22 (155271366
_155804269)×1
532.9 KbDe novoIntellectual disability, behavioral problems, cryptorchidism and blocked nasolacrimal duct, microcephaly,/
Decipher249,031[GRCh37] 1q22 (154292095
−155569326)×1
1.28 MbDe novoDelayed speech and language development, hypertelorism, intellectual disability, long face, low-set earsUnknown
Decipher255,240[GRCh37] 1q22 (155192986
_156108069)×1
915.08 KbUnknownBroad nasal tip, delayed speech and language development, dental malocclusion, intellectual disability, low-set ears, malar flattening, narrow palate, nasal speech, posteriorly rotated earsUnknown
Decipher359,103[GRCh37] 1q22 (154687479
_156014014)×1
1.33 MbDe novoAbnormality of the nervous system, autism, scoliosisLikely
pathogenic
DGVesv33869[GRCh37] 1q22 (155223283
_155917961)×1
694.6Kb///
DGVdgv3n68[GRCh37] 1q22 (155094978
_155313409)×1
218.4 Kb///
ClinVarVCV000659609.1[GRCh37] 1q22 (155294636
_155452240)×1
157.6Kb//Pathogenic
Decipher251,442[GRCh37] 1q22 (155264908
_156495512)×3
1.23 MbInheritedCryptorchidism, delayed speech and language development, intellectual disability, strabismusUnknown
ClinVarVCV000253835.1[GRCh37] 1q22 (155412745
_155755215)×3
342.47 kb/Attention deficit hyperactivity disorderUncertain
  1. Selected deletion/duplication cases are listed. “/”, information not provided; “*”, reference [9]