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
single nucleotide variant	NM_000548.5(TSC2):c.3G>T (p.Met1Ile)	TSC2	Likely pathogenic	16	2098619	2098619	G	T	criteria provided, single submitter	-
Deletion	NM_000548.5(TSC2):c.21del (p.Asp8fs)	TSC2	Pathogenic	16	2098635	2098635	CA	C	criteria provided, single submitter	ClinGen:CA016919,Tuberous sclerosis database (TSC2):TSC2_01083
single nucleotide variant	NM_000548.5(TSC2):c.26C>G (p.Ser9Ter)	TSC2	Pathogenic	16	2098642	2098642	C	G	criteria provided, single submitter	ClinGen:CA017918,Tuberous sclerosis database (TSC2):TSC2_01143
Deletion	NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer)	TSC2	Pathogenic	16	2098647	2098647	CT	C	criteria provided, single submitter	ClinGen:CA319605
Duplication	NM_000548.5(TSC2):c.45dup (p.Lys16Ter)	TSC2	Pathogenic	16	2098658	2098659	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA279123
Deletion	NM_000548.5(TSC2):c.45_51del (p.Lys16fs)	TSC2	Pathogenic	16	2098659	2098665	GTTTAAGA	G	criteria provided, single submitter	ClinGen:CA020645,Tuberous sclerosis database (TSC2):TSC2_02410
Duplication	NM_000548.5(TSC2):c.113_114dup (p.Ile39fs)	TSC2	Pathogenic	16	2098727	2098728	G	GTT	criteria provided, single submitter	ClinGen:CA658658338
Deletion	NM_000548.5(TSC2):c.120del (p.Thr41fs)	TSC2	Pathogenic	16	2098736	2098736	TC	T	criteria provided, single submitter	ClinGen:CA014037,Tuberous sclerosis database (TSC2):TSC2_02108
Deletion	NM_000548.5(TSC2):c.131_132del (p.Ile44fs)	TSC2	Pathogenic	16	2098746	2098747	AAT	A	criteria provided, single submitter	ClinGen:CA16620084
Deletion	NM_000548.5(TSC2):c.133_136del (p.Leu45fs)	TSC2	Pathogenic	16	2098748	2098751	TACTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014408,Tuberous sclerosis database (TSC2):TSC2_00341