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
single nucleotide variant	NM_000551.4(VHL):c.376G>T (p.Asp126Tyr)	VHL	Likely pathogenic	3	10188233	10188233	G	T	criteria provided, single submitter	ClinGen:CA020319,UniProtKB:P40337#VAR_034994,OMIM:608537.0022
single nucleotide variant	NM_000551.4(VHL):c.488T>C (p.Leu163Pro)	VHL	Likely pathogenic	3	10191495	10191495	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020423,UniProtKB:P40337#VAR_034998,OMIM:608537.0018
single nucleotide variant	NM_000551.4(VHL):c.571C>G (p.His191Asp)	VHL	Likely pathogenic	3	10191578	10191578	C	G	criteria provided, single submitter	ClinGen:CA020495,UniProtKB:P40337#VAR_034999,OMIM:608537.0024
single nucleotide variant	NM_003002.4(SDHD):c.52+2T>G	SDHD	Likely pathogenic	11	111957685	111957685	T	G	criteria provided, single submitter	ClinGen:CA017068,OMIM:602690.0010
Deletion	NM_003002.4(SDHD):c.443del (p.Gly148fs)	SDHD	Likely pathogenic	11	111965655	111965655	TG	T	criteria provided, single submitter	ClinGen:CA017041,OMIM:602690.0009
Deletion	NM_003002.4(SDHD):c.278_280del (p.Tyr93del)	SDHD	Likely pathogenic	11	111959698	111959700	CTAT	C	criteria provided, single submitter	ClinGen:CA016628,OMIM:602690.0014
single nucleotide variant	NM_020975.6(RET):c.95C>T (p.Ser32Leu)	RET	Likely pathogenic	10	43595928	43595928	C	T	criteria provided, single submitter	ClinGen:CA009398,UniProtKB:P07949#VAR_006295,OMIM:164761.0018
single nucleotide variant	NM_020975.6(RET):c.989G>A (p.Arg330Gln)	RET	Likely pathogenic	10	43601945	43601945	G	A	criteria provided, single submitter	ClinGen:CA009415,UniProtKB:P07949#VAR_006302,OMIM:164761.0022
single nucleotide variant	NM_020975.6(RET):c.1817A>G (p.Tyr606Cys)	RET	Likely pathogenic	10	43609061	43609061	A	G	criteria provided, single submitter	ClinGen:CA007781
single nucleotide variant	NM_020975.6(RET):c.1831T>C (p.Cys611Arg)	RET	Likely pathogenic	10	43609075	43609075	T	C	criteria provided, single submitter	ClinGen:CA007873,UniProtKB:P07949#VAR_009473