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_000551.4(VHL):c.339_340+5del	VHL	Pathogenic	3	10183868	10183874	CCGAGGTA	C	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_10141838)_(10149975_?)del	VHL	Pathogenic	3	10183522	10191659	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_10146504)_(10149975_?)del	VHL	Pathogenic	3	10188188	10191659	na	na	criteria provided, single submitter	-
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.1064+1G>T	SDHA	Likely pathogenic	5	233761	233761	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004168.4(SDHA):c.1261-2A>G	SDHA	Likely pathogenic	5	236541	236541	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000010.11:g.(?_43100449)_(43102639_?)del	RET	Likely pathogenic	10	43595897	43598087	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003002.4(SDHD):c.52+2T>C	SDHD	Pathogenic	11	111957685	111957685	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_017841.4(SDHAF2):c.261-2A>T	SDHAF2	Likely pathogenic	11	61205474	61205474	A	T	criteria provided, single submitter	-
Deletion	NC_000014.9:g.(?_65101536)_(65102349_?)del	MAX	Pathogenic	14	65568254	65569067	na	na	criteria provided, single submitter	-