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	NM_000368.5(TSC1):c.2001_2004del (p.Leu667fs)	TSC1	Pathogenic	9	135779835	135779838	AAGGC	A	criteria provided, single submitter	ClinGen:CA658656070
Deletion	NM_000368.5(TSC1):c.1157del (p.Thr386fs)	TSC1	Pathogenic	9	135786064	135786064	AG	A	criteria provided, single submitter	ClinGen:CA658657922
single nucleotide variant	NM_000368.5(TSC1):c.492G>A (p.Trp164Ter)	TSC1	Pathogenic	9	135798751	135798751	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA375373170
Duplication	NM_000548.5(TSC2):c.113_114dup (p.Ile39fs)	TSC2	Pathogenic	16	2098727	2098728	G	GTT	criteria provided, single submitter	ClinGen:CA658658338
single nucleotide variant	NM_000548.5(TSC2):c.482-1G>A	TSC2	Pathogenic	16	2105402	2105402	G	A	criteria provided, single submitter	ClinGen:CA394309013
single nucleotide variant	NM_000548.5(TSC2):c.1287T>A (p.Tyr429Ter)	TSC2	Pathogenic	16	2112527	2112527	T	A	criteria provided, single submitter	ClinGen:CA394322020
Deletion	NM_000548.5(TSC2):c.2386_2457del (p.Leu796_Ile819del)	TSC2	Likely pathogenic	16	2124230	2124301	GCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCAT	G	criteria provided, single submitter	ClinGen:CA658658377
Insertion	NM_000548.5(TSC2):c.3182_3183insAACC (p.Val1062fs)	TSC2	Pathogenic	16	2129327	2129328	T	TAACC	criteria provided, single submitter	ClinGen:CA658656501
single nucleotide variant	NM_000548.5(TSC2):c.5068+2T>C	TSC2	Pathogenic/Likely pathogenic	16	2137944	2137944	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA394311751
Deletion	NC_000009.12:g.(?_132910551)_(132912477_?)del	TSC1	Pathogenic	9	135785938	135787864	na	na	criteria provided, single submitter	-