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_003001.5(SDHC):c.1A>T (p.Met1Leu)	SDHC	Pathogenic	1	161284196	161284196	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_003001.5(SDHC):c.1A>G (p.Met1Val)	SDHC	Pathogenic	1	161284196	161284196	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA046289
Deletion	NG_012337.3(SDHD):g.11847_14024del	SDHD	Pathogenic	11	111964415	111966592	ATTCCTTATCATGACCTTCAAGACCCTATGCAACCGACCCCTGCCTTCCTCTGATCTCTGCTTCACCCATGTGCTCCAGCCACACAAATCTTACTATTCATTAGAGATGCCACTTTGGTTTGGATGTTCTCATTCATGTCTTCCTTTCTAAAGTGTTTCTTCTCAGTACATATATATTTACTTTTTCCTTCTCATTCACTAGTATATTCCATAAGGGTAGGGATGCTGTCTCACTTACTATACTCCCAACATTTATGACAGATTCTGGCACATGATATCTACTTAATAAATTCTTTTTGAATTAATTAAAAATACTGTAGAGTTTTAGTTATTTTTAGTTATTGGGGTGAAAGGATCACTTGCAGCCAAGAGTTCAAGACCAGCCTGGGCATCATGGTGAGACCGCATCTTTAAAGAAATAAAAAACAGGCCAGGCGCAGTAGCTCACGCCTGTAGTCCCAACACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAGAAGGAAATAAAAAACAATTAGCCGGGCATGGAGGCATGCTCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCTCAGGAGTTCGAGGCTGTAGTGAGCTATGATCAGGCCACTGCACTCCAGCGTGGGCAACAGAGTAAGACTTTGTCTCTAAAGAAAAGTCACTAGAAATAGACTTACTGACATACACACGCAAAAGGCTATACAGAATCCCCTAAAGAAGCAAACAGTGACAGTGGAGTGGCAAATGGAGACATTGCATTTGAACTTGACAGATTGTTTTTTTGCAGCCAAGTTATCTGTATAGTCTTCTAATTTCACTGTGGTTTTTTATTGATGTTATGATTTTTTCTTTTTCTTTAGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGACCTTTTTGACTTCATACTTTGAAGAATTGATGTATGCCTCTTTGCCTCTGCTTTGTCATGCCATTAAGCTCACAATAAGGAAGAAATAACAGATAAGTCCATTGGTGGACAGCCTTCTTCTCTTAATCACAAGATTATTTTCAGAATTTAATCTTTGAGGAAAAGGTTTGAGAGGAATTATATCTAAGTTGTGAGACTGAGTTCTATATTCTGGTGAGTTAATGGGGTTGCCTCCCAGCTTCTTATAAGACTCACAGTATAACTAAACATGATATATCAGCTTTTGCCTTTCAATTTATCAATCTCTTAAAGAGAATCCAACTTTATTACGATTAGTATATGATCAAACTTCCATATTTGCCTTGGGAATAATGGACAAAGGGAAATACTCTTAATTCATGAATAAAAACTTTGCAGAAAATTAGACAGTGTTTAATTTTCGAAAACTTCCCTCTCTAGACAGTAGATACCACCTACTGATGGTTACATATACTAGGGAAATTTTAAAATTAGGAAATGCTGATAGCTCATATTATAAATTTCTAAATCCTAGGAAGAAACGCTTGGAGTGCTTCTGAATATACAGAAGTTCCATTTAAGGGCAAGTTTCCCTGTAGATGTATCAAAATACTACCAACTGTAAATTGAGATTTAATTCCCAAATGTATTCTACTTGTTCTAAAACAATCTGTCCACAAATATAAAACTATAAGTAATAAATTGTTATTTTCGCACAATGGGAATCTCTAATGTGAAAATGTATTCTATGAAAATAATTTTTTTAAATAAAATGTTATATAATAAAAGTGTCTTCTATGCTTTTATATATTAGCTATCAGTAGTTTTATTCATTAGAATTAGGTGTCCATTGCATCCACAGCATGAAAACAAAATTGGG	A	criteria provided, single submitter	-
Deletion	NM_003002.3(SDHD):c.-84_*831del	SDHD	Pathogenic	11	111957548	111966525	na	na	criteria provided, single submitter	-
Deletion	NM_003002.3(SDHD):c.(?_286)_(387_?)del	SDHD	Likely pathogenic	11	111965980	111966081	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_112086898)_(112094980_?)del	SDHD	Pathogenic	11	111957622	111965704	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_112088857)_(112094980_?)del	SDHD	Pathogenic	11	111959581	111965704	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_112094795)_(112094980_?)del	SDHD	Pathogenic	11	111965519	111965704	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_112094799)_(112094976_?)del	SDHD	Pathogenic	11	111965523	111965700	na	na	criteria provided, single submitter	-
Indel	NM_003002.4(SDHD):c.443_444delinsTT (p.Gly148Val)	SDHD	Likely pathogenic	11	111965657	111965658	GC	TT	criteria provided, single submitter	ClinGen:CA658658107