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_000548.5(TSC2):c.1194del (p.Asn398fs)	TSC2	Pathogenic	16	2111946	2111946	AC	A	criteria provided, single submitter	ClinGen:CA10588596
single nucleotide variant	NM_000548.5(TSC2):c.3904G>T (p.Glu1302Ter)	TSC2	Pathogenic	16	2133716	2133716	G	T	criteria provided, single submitter	ClinGen:CA10588597
Duplication	NM_000368.5(TSC1):c.2075_2120dup (p.Phe707delinsLeuArgProValAlaPheThrAlaGlnProValThrLeuTer)	TSC1	Pathogenic	9	135779125	135779126	A	AAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTC	criteria provided, single submitter	ClinGen:CA10603025
Deletion	NM_000368.5(TSC1):c.1727del (p.Leu576fs)	TSC1	Pathogenic	9	135781238	135781238	CA	C	criteria provided, single submitter	ClinGen:CA10603026
Deletion	NM_000368.5(TSC1):c.2156del (p.Leu719fs)	TSC1	Pathogenic	9	135779090	135779090	GA	G	criteria provided, single submitter	ClinGen:CA10603102
single nucleotide variant	NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter)	TSC1	Pathogenic	9	135780978	135780978	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603105
single nucleotide variant	NM_000368.5(TSC1):c.914-2A>G	TSC1	Pathogenic	9	135786957	135786957	T	C	criteria provided, single submitter	ClinGen:CA10603107
Indel	NM_000368.5(TSC1):c.850_881delinsGCTTTCCTCATCGTT (p.Arg284fs)	TSC1	Pathogenic	9	135787701	135787732	GTGGTGACATCGGCTGAACGATGAGGAAAGCG	AACGATGAGGAAAGC	criteria provided, single submitter	ClinGen:CA10603109
single nucleotide variant	NM_000368.5(TSC1):c.738-2A>T	TSC1	Pathogenic	9	135787846	135787846	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603111
Duplication	NM_000368.5(TSC1):c.74dup (p.Thr26fs)	TSC1	Pathogenic	9	135804185	135804186	C	CA	criteria provided, single submitter	ClinGen:CA10603113