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. 2021 Nov 25;42(2):375–393. doi: 10.1007/s10875-021-01178-1

Table 1.

Causative genes of studied subjects

ID Group Variation type Consequence HGNC (symbol) HGVSc HGVSp Exon (intron) Zygosity
P1 Atypical SCID snv missense_variant RAG1 c.1073G > A p.Cys358Tyr '2/2' Hom
P2 Atypical SCID snv missense_variant DCLRE1C c.386G > T p.Gly129Val '6/14' Hom
P3 Atypical SCID snv missense_variant JAK3 c.2164G > A p.Val722Ile '16/24' Hom
P4 AT InDel frameshift_variant ATM c.6259delG p.Glu2087LysfsTer9 '43/63' Comp Het
snv stop_gained ATM c.6658C > T p.Gln2220Ter '46/63'
P5 AT InDel frameshift_variant ATM c.6629delA p.Gln2210ArgfsTer25 '46/63' Hom
P6 AT snv missense_variant ATM c.6047A > G p.Asp2016Gly '41/63' Hom
P7 AT snv missense_variant ATM c.6047A > G p.Asp2016Gly '41/63' Comp Het
snv splice_donor_variant ATM c.6198 + 1G > A '42/62'
P8 AT snv stop_gained ATM c.3102 T > G p.Tyr1034Ter '21/63' Hom
P9 AT InDel large deletion ATM 1 ~ 2/63 Hom
P10 ICF1 snv missense_variant DNMT3B c.2166 T > A p.Asp722Glu '20/23' Hom
P11 ICF1 snv missense_variant DNMT3B c.2166 T > A p.Asp722Glu '20/23' Hom
P12 ICF1 snv missense_variant DNMT3B c.2166 T > A p.Asp722Glu '20/23' Hom
P13 ICF1 snv missense_variant DNMT3B c.2428G > T p.Gly810Cys '23/23' Hom
P14 ICF1 snv missense_variant DNMT3B c.2166 T > A p.Asp722Glu '20/23' Hom
P15 ICF1 snv missense_variant DNMT3B c.1871A > G p.Tyr624Cys '17/23' Hom
P16 ICF2 InDel frameshift_variant ZBTB24 c.795dupA p.Asp266ArgfsTer28 '2/7' Hom
P17 ICF2 snv missense_variant ZBTB24 c.1148G > C p.Cys383Ser '4/7' Hom
P18 ICF2 snv missense_variant ZBTB24 c.1148G > C p.Cys383Ser '4/7' Hom
P19 ICF2 snv missense_variant ZBTB24 c.1224C > G p.Cys408Trp '5/7' Hom

snv single nucleotide variants, InDel insertions and deletions, HGNC Human Gene Nomenclature Committee, HGVSc Human Genome Variation Society codon, HGVSp Human Genome Variation Society polypeptide, Hom homozygous, Comp Het compound heterozygous