遺伝性褐色細胞腫・パラガングリオーマ

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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
Deletion	NM_004168.4(SDHA):c.63+2del	SDHA	Likely pathogenic	5	218535	218535	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA	Pathogenic/Likely pathogenic	5	223624	223624	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA168793,OMIM:600857.0008
single nucleotide variant	NM_004168.4(SDHA):c.151-1G>C	SDHA	Likely pathogenic	5	224474	224474	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA359008365
Duplication	NM_004168.4(SDHA):c.171dup (p.Val58fs)	SDHA	Pathogenic/Likely pathogenic	5	224494	224495	T	TA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004168.4(SDHA):c.210dup (p.Gly71fs)	SDHA	Likely pathogenic	5	224533	224534	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)	SDHA	Pathogenic/Likely pathogenic	5	224547	224547	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA276119,OMIM:600857.0010
Deletion	NM_004168.4(SDHA):c.255del (p.Phe85fs)	SDHA	Likely pathogenic	5	224577	224577	GT	G	criteria provided, single submitter	ClinGen:CA3172756
Duplication	NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer)	SDHA	Pathogenic	5	224576	224577	G	GTTTA	criteria provided, single submitter	-
Deletion	NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)	SDHA	Pathogenic	5	225598	225598	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657419
Deletion	NM_004168.4(SDHA):c.457-2_457del	SDHA	Pathogenic	5	225995	225997	ACAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582418