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_003002.4(SDHD):c.305A>G (p.His102Arg)	SDHD	Pathogenic/Likely pathogenic	11	111959726	111959726	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_003002.4(SDHD):c.13_14del (p.Trp5fs)	SDHD	Pathogenic	11	111957644	111957645	CTG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NG_012337.3(SDHD):g.11847_14024del	SDHD	Pathogenic	11	111964415	111966592	ATTCCTTATCATGACCTTCAAGACCCTATGCAACCGACCCCTGCCTTCCTCTGATCTCTGCTTCACCCATGTGCTCCAGCCACACAAATCTTACTATTCATTAGAGATGCCACTTTGGTTTGGATGTTCTCATTCATGTCTTCCTTTCTAAAGTGTTTCTTCTCAGTACATATATATTTACTTTTTCCTTCTCATTCACTAGTATATTCCATAAGGGTAGGGATGCTGTCTCACTTACTATACTCCCAACATTTATGACAGATTCTGGCACATGATATCTACTTAATAAATTCTTTTTGAATTAATTAAAAATACTGTAGAGTTTTAGTTATTTTTAGTTATTGGGGTGAAAGGATCACTTGCAGCCAAGAGTTCAAGACCAGCCTGGGCATCATGGTGAGACCGCATCTTTAAAGAAATAAAAAACAGGCCAGGCGCAGTAGCTCACGCCTGTAGTCCCAACACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCTCAATAAATAAATAAATAAATAAATAAATAGAAGGAAATAAAAAACAATTAGCCGGGCATGGAGGCATGCTCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCTCAGGAGTTCGAGGCTGTAGTGAGCTATGATCAGGCCACTGCACTCCAGCGTGGGCAACAGAGTAAGACTTTGTCTCTAAAGAAAAGTCACTAGAAATAGACTTACTGACATACACACGCAAAAGGCTATACAGAATCCCCTAAAGAAGCAAACAGTGACAGTGGAGTGGCAAATGGAGACATTGCATTTGAACTTGACAGATTGTTTTTTTGCAGCCAAGTTATCTGTATAGTCTTCTAATTTCACTGTGGTTTTTTATTGATGTTATGATTTTTTCTTTTTCTTTAGGGGCCTTGGACAAGTTGTTACTGACTATGTTCATGGGGATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACTTTCAGCTTTAACCTTTGCTGGGCTTTGCTATTTCAACTATCACGATGTGGGCATCTGCAAAGCTGTTGCCATGCTGTGGAAGCTCTGACCTTTTTGACTTCATACTTTGAAGAATTGATGTATGCCTCTTTGCCTCTGCTTTGTCATGCCATTAAGCTCACAATAAGGAAGAAATAACAGATAAGTCCATTGGTGGACAGCCTTCTTCTCTTAATCACAAGATTATTTTCAGAATTTAATCTTTGAGGAAAAGGTTTGAGAGGAATTATATCTAAGTTGTGAGACTGAGTTCTATATTCTGGTGAGTTAATGGGGTTGCCTCCCAGCTTCTTATAAGACTCACAGTATAACTAAACATGATATATCAGCTTTTGCCTTTCAATTTATCAATCTCTTAAAGAGAATCCAACTTTATTACGATTAGTATATGATCAAACTTCCATATTTGCCTTGGGAATAATGGACAAAGGGAAATACTCTTAATTCATGAATAAAAACTTTGCAGAAAATTAGACAGTGTTTAATTTTCGAAAACTTCCCTCTCTAGACAGTAGATACCACCTACTGATGGTTACATATACTAGGGAAATTTTAAAATTAGGAAATGCTGATAGCTCATATTATAAATTTCTAAATCCTAGGAAGAAACGCTTGGAGTGCTTCTGAATATACAGAAGTTCCATTTAAGGGCAAGTTTCCCTGTAGATGTATCAAAATACTACCAACTGTAAATTGAGATTTAATTCCCAAATGTATTCTACTTGTTCTAAAACAATCTGTCCACAAATATAAAACTATAAGTAATAAATTGTTATTTTCGCACAATGGGAATCTCTAATGTGAAAATGTATTCTATGAAAATAATTTTTTTAAATAAAATGTTATATAATAAAAGTGTCTTCTATGCTTTTATATATTAGCTATCAGTAGTTTTATTCATTAGAATTAGGTGTCCATTGCATCCACAGCATGAAAACAAAATTGGG	A	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	-
Indel	NM_003002.4(SDHD):c.53-1_53delinsTT	SDHD	Likely pathogenic	11	111958580	111958581	GC	TT	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_112094795)_(112094980_?)del	SDHD	Pathogenic	11	111965519	111965704	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)	SDHD	Likely pathogenic	11	111965630	111965630	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_003002.4(SDHD):c.3G>A (p.Met1Ile)	SDHD	Pathogenic	11	111957634	111957634	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_003002.4(SDHD):c.336dup (p.Asp113Ter)	SDHD	Pathogenic	11	111965549	111965550	C	CT	criteria provided, multiple submitters, no conflicts	-