複合カルボキシラーゼ欠損症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_001370658.1(BTD):c.805G>C (p.Ala269Pro)	BTD	Pathogenic	3	15686228	15686228	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)	BTD	Pathogenic/Likely pathogenic	3	15686521	15686521	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278383
Deletion	NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)	BTD	Pathogenic/Likely pathogenic	3	15686602	15686613	GCTATCTCCACGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278384
Duplication	NM_001370658.1(BTD):c.1334dup (p.Leu446fs)	BTD	Likely pathogenic	3	15686752	15686753	T	TG	criteria provided, single submitter	ClinGen:CA278397
Deletion	NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)	BTD	Pathogenic	3	15686870	15686874	AGGGAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220319
single nucleotide variant	NM_001370658.1(BTD):c.566G>A (p.Arg189His)	BTD	Pathogenic	3	15685989	15685989	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220329
single nucleotide variant	NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)	BTD	Likely pathogenic	3	15683560	15683560	C	G	criteria provided, single submitter	ClinGen:CA278435
single nucleotide variant	NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	BTD	Pathogenic/Likely pathogenic	3	15686064	15686064	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278439
single nucleotide variant	NM_001370658.1(BTD):c.838A>C (p.Asn280His)	BTD	Likely pathogenic	3	15686261	15686261	A	C	criteria provided, single submitter	ClinGen:CA278441
Indel	NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)	BTD	Pathogenic/Likely pathogenic	3	15686590	15686604	GGGAAAGGAAGGCTA	TTCCAATGGCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA278470,OMIM:609019.0002