結節性硬化症 - MGenReviews

結節性硬化症

腫瘍性疾患

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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_000009.12:g.(?_132896215)_(132928892_?)del	TSC1	Pathogenic	9	135771602	135804279	na	na	criteria provided, single submitter	-
Deletion	NM_000368.5(TSC1):c.2502+2_2502+9del	TSC1	Likely pathogenic	9	135776967	135776974	TTCTTCTTA	T	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_2056176)_(2064447_?)del	TSC2	Pathogenic	16	2106177	2114448	na	na	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.335_336+14del	TSC2	Likely pathogenic	16	2103448	2103463	GGGGCAGGTAAGGCCCA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000548.5(TSC2):c.1716+5G>C	TSC2	Pathogenic	16	2115641	2115641	G	C	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_2048596)_(2074415_?)del	TSC2	Pathogenic	16	2098597	2124416	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_2048596)_(2119398_?)del	TSC2	Pathogenic	16	2098597	2169399	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_2050390)_(2050496_?)del	TSC2	Pathogenic	16	2100391	2100497	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_2053322)_(2057459_?)del	TSC2	Pathogenic	16	2103323	2107460	na	na	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.976-207_1191del	TSC2	Likely pathogenic	16	2110463	2111942	GGGGTGGGGCCCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCGCTCAGGCGTGCTACTCTCGGTCCCAAGGGTGACTGGGAGGGCGTCCCACAGCAAGCAAGCAGCTCTGACCCTGTGTGCTGGCCGGGCTCGTGTTCCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGGTGGGGTGGGGGCAGGAGCTCCGGGGAGCACCGGGAACCCAGACAGGCAGGCTCGGCCCACTCAGAAGATGGTACCTTGGGCCCCATCTCTGGGGGTCCCGCAGAGACTGCCAGAACCGTGTTCTCTGGTGATTCGCAGTGGCGCTCATCCACCTTCCACCGGAGACAGGTCTGATTTTTCCAGACGTGGTGCATCGTTTAGGCCCCAGACAGGAATATGCAGTAGGTGAGCCGGGGCTGGGCCAGTGCTGTCCACAGTCCGCAGAGTGACCTGCAGGCCGCCTTCGTGGCCTGAGTGGGCCCCGGCACAGTTCCCAGAGGGATGCCAGTGTGGCTTCCGCATGACTTTGGAGGACCGCATTAGTCGAGTCTGTTAACCACAGCTTTAAGGAGGACTCCACGGCCACACGGGCTCATCAGCATAGGGGCCCTGGGGAGGCGAGGCTAGTATCCAGCAGCCTCAGGGCTGTGCCTTTTCCTGGAGCCTGGGGCGGGTGATGTACAGGAGGCCAGGCAGCAGAAGGGAGGCCGGGACTTCGCCGGGACTTAGCAGGGACTGAAGTCCTCTCAGAGCCTGTCGCTGGGCCAGAGCATTGCCCCCGACCGCTGGTGGCAGTGGCAGAGGTCATAGCCTGGGGCTTCTAAAAGAGGCTGGACCTGGGAGAGGCAAGAAAGGCTTGTAGTTGTGGCTACTCTTGGCCCTCCTGCCCGAGCTTCCTTCTTGGCCCAGCTGCATGGGCACAGCCAAGATTCCTTGGGGGGTGGGGTACGGGCAGGAACAGCAGCTGCCATCACAGCCACTGTGGCCCCTTGAGAGGATCTGGGGGGTGTCCTGGGCCACGTGGGTCAGGGTGGCCCCTGGAGAGGATCTGGGGGTGTCTCAACCCATGAGGCCCGGAGCGGCCTCAGAGGGCTGGGGGCGTCTGTCCCCATGCGGCCCAGAGCGGCCTGAGAGGGCTGAGGGTGTCTCCATGCGGTGGGTGTGTAGCGAGGCCTCTGGTGCCAAGTCCATGTGGGGAGTGGAAGTCAGCCTGTGTCATCGTGCCTGGTACTGCAGACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGAGCTGTGTGACCA	G	criteria provided, single submitter	-