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	NC_000011.10:g.(?_112094799)_(112094976_?)del	SDHD	Pathogenic	11	111965523	111965700	na	na	criteria provided, single submitter	-
Duplication	NM_017841.4(SDHAF2):c.177dup (p.Asp60Ter)	SDHAF2	Pathogenic	11	61205236	61205237	C	CT	criteria provided, single submitter	ClinGen:CA658797653
single nucleotide variant	NM_002382.5(MAX):c.219T>A (p.Tyr73Ter)	MAX	Pathogenic	14	65544707	65544707	A	T	criteria provided, single submitter	ClinGen:CA390035784
Deletion	NM_002382.5(MAX):c.228del (p.Asn78fs)	MAX	Pathogenic	14	65544698	65544698	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798225
Deletion	NM_004168.4(SDHA):c.897_1260+1del	SDHA	Pathogenic	5	233588	235450	TGCAGGCATATATGGTGCTGGTTGTCTCATTACGGAAGGATGTCGTGGAGAGGGAGGCATTCTCATTAACAGTCAAGGCGAAAGGTTTATGGAGCGATACGCCCCTGTCGCGAAGGACCTGGCGTCTAGAGATGTGGTGTCTCGGTCCATGACTCTGGAGATCCGAGAAGGAAGGTGCGTGTGATTTACCACCAGCACTGTCTGAGCGGGCACACGGGCCGGGGTTGCTTCTGTGAGTTTCAGCACCGCTCGCCCTCACCTTCGTGTGCAGGCGCATGTGCACAGCCACCTCTCTTAGCTGCTGGCAGGCGTCTGTTAGTCTGCGATATTTTCCTAAAGACCTACATTTTGAAAATTTTAGCCAGTTTCTTTCTCAAATCTGTGGAACAGAGTTTCTCTTAGTGTGTGTGAGTATGTGACGGAGTATGGGAGAGAGAGACACACACCCAACCTGAAGTCGGCATGTGAGCCTTGGGTGTTGTGTCTGATACCCACAGATGTTTTTTGGCAGCTTTCAAAGTGTGTGGGTTATTTGGCTTTCAGTAAAACAGTTTGCAGCTCTTTCATTGCCTGACCCTGTTCTTTAATGTAATGACATTTGCTAAATATCTGCTGGTATGGCCTTTAGAGGTTTTACATTTTTATATTAAAAAAACAGAGAAGTCAGGTGGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCGGGCAGATCAGGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGATGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACAGAGAAGTCAAATGGTTTTTTGGAATATGGTGGCCCTCCGTACCCATTGGTTCCACATGTGTGGTTTCAGCCAACTATGTATTGAAAATAAAATTGCATCCTTACAAATATGCAGACTTTTTTTCCTTGTCATTGTTCCCTTAACAATACAGTGTAACAGCTATTTACGTAGCATTTACATTGTATTAGGTACTATGAGTCATCCTGGAGTTGCTGTAAAACTTAAACGTAAAACTTGAAATGAGGATGATTTAAAGTATAGAGGAGGATGTGCATAGGTTATATGCAAATACTCTCCCATTTTATATTAGGGACTTGAGCATCCACGGATTTTGGTATCCGTGGGGGTCCTGGACCCAACCTGCCACGGATACGCAGGGACGACTGTATTTGGCATAGAGGCCTTTCTAATGCACTTACCAAGGACACCTGCAGCAGGCTGTGATCCCTGAGACGAGCGTGAGTTTAGTGAGGGCAGAGTTTTTGTTCTGGTTCTCAGCTGTGTCCCAGCACCTGGGATTGTCCCTGGCACACAGTAGCTGCTTAGAAAAGATTTGATGAGAGGGTGACCATACATGAGGGGAAATTTTCCTCAGTATCAAAACATGTTGAAACTCACACACTTCCAAGATGACGTATTCTCAGGTCTCCTGCCGTTGCCGTTCTCTGCCGTATGTGATGGTGTTCTGTCTTACCAGAGGCTGTGGCCCTGAGAAAGATCACGTCTACCTGCAGCTGCACCACCTACCTCCAGAGCAGCTGGCCACGCGCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGCGTGGACGTCACGAAGGAGCCGATCCCTGTCCTCCCCACCGTGCATTATAACATGGGCGGCATTCCCACCAACTACAAGGG	T	criteria provided, single submitter	-
Duplication	NM_003001.5(SDHC):c.17_18dup (p.Arg7Ter)	SDHC	Pathogenic	1	161284211	161284212	C	CTG	criteria provided, single submitter	-
Duplication	NM_003000.3(SDHB):c.537dup (p.Leu180fs)	SDHB	Pathogenic	1	17354246	17354247	G	GT	criteria provided, single submitter	-
Duplication	NM_003000.3(SDHB):c.379dup (p.Ile127fs)	SDHB	Pathogenic	1	17355138	17355139	A	AT	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs)	VHL	Pathogenic/Likely pathogenic	3	10191538	10191549	ACTGGACATCGT	TC	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004168.4(SDHA):c.171dup (p.Val58fs)	SDHA	Pathogenic/Likely pathogenic	5	224494	224495	T	TA	criteria provided, multiple submitters, no conflicts	-