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_000368.5(TSC1):c.671T>G (p.Met224Arg)	TSC1	Likely pathogenic	9	135796816	135796816	A	C	criteria provided, single submitter	ClinGen:CA008014,UniProtKB:Q92574#VAR_009401,Tuberous sclerosis database (TSC1):TSC1_00036,OMIM:605284.0008
single nucleotide variant	NM_000368.5(TSC1):c.1439-2A>G	TSC1	Likely pathogenic	9	135781528	135781528	T	C	criteria provided, single submitter	ClinGen:CA004828,Tuberous sclerosis database (TSC1):TSC1_00092
Deletion	NM_000368.5(TSC1):c.2103_2106del (p.Gln701fs)	TSC1	Likely pathogenic	9	135779140	135779143	GTAAC	G	criteria provided, single submitter	ClinGen:CA005986,Tuberous sclerosis database (TSC1):TSC1_00132,Tuberous sclerosis database (TSC1):TSC1_00406
single nucleotide variant	NM_000368.5(TSC1):c.2626-2A>G	TSC1	Likely pathogenic	9	135772999	135772999	T	C	criteria provided, single submitter	ClinGen:CA006734,Tuberous sclerosis database (TSC1):TSC1_00234
single nucleotide variant	NM_000368.5(TSC1):c.363+1G>A	TSC1	Likely pathogenic	9	135800973	135800973	C	T	criteria provided, single submitter	ClinGen:CA007428,Tuberous sclerosis database (TSC1):TSC1_00396
single nucleotide variant	NM_000368.5(TSC1):c.363+1G>T	TSC1	Likely pathogenic	9	135800973	135800973	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007434,Tuberous sclerosis database (TSC1):TSC1_00018
Deletion	NM_000368.5(TSC1):c.381_383del (p.Val128del)	TSC1	Likely pathogenic	9	135798860	135798862	GACA	G	criteria provided, single submitter	Tuberous sclerosis database (TSC1):TSC1_00410,Tuberous sclerosis database (TSC1):TSC1_00244,ClinGen:CA007485
single nucleotide variant	NM_000368.5(TSC1):c.569G>C (p.Arg190Pro)	TSC1	Likely pathogenic	9	135797300	135797300	C	G	criteria provided, single submitter	ClinGen:CA007774,Tuberous sclerosis database (TSC1):TSC1_00028
single nucleotide variant	NM_000368.5(TSC1):c.572T>A (p.Leu191His)	TSC1	Likely pathogenic	9	135797297	135797297	A	T	criteria provided, single submitter	ClinGen:CA007782,UniProtKB:Q92574#VAR_009399,Tuberous sclerosis database (TSC1):TSC1_00029
single nucleotide variant	NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter)	TSC1	Likely pathogenic	9	135787670	135787670	A	C	criteria provided, single submitter	ClinGen:CA008375,Tuberous sclerosis database (TSC1):TSC1_00294