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.737+1G>T	TSC1	Pathogenic/Likely pathogenic	9	135796749	135796749	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008101,Tuberous sclerosis database (TSC1):TSC1_00493
single nucleotide variant	NM_000368.5(TSC1):c.2626-1G>A	TSC1	Pathogenic/Likely pathogenic	9	135772998	135772998	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006719,Tuberous sclerosis database (TSC1):TSC1_00648
single nucleotide variant	NM_000368.5(TSC1):c.1439-1G>A	TSC1	Pathogenic/Likely pathogenic	9	135781527	135781527	C	T	criteria provided, multiple submitters, no conflicts	Tuberous sclerosis database (TSC1):TSC1_00686,ClinGen:CA004817
single nucleotide variant	NM_000548.5(TSC2):c.138+5G>A	TSC2	Pathogenic/Likely pathogenic	16	2098759	2098759	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014690,Tuberous sclerosis database (TSC2):TSC2_00034
single nucleotide variant	NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)	TSC2	Pathogenic/Likely pathogenic	16	2131596	2131596	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019384,Tuberous sclerosis database (TSC2):TSC2_00885
single nucleotide variant	NM_000548.5(TSC2):c.1716+1G>A	TSC2	Pathogenic/Likely pathogenic	16	2115637	2115637	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA015487,Tuberous sclerosis database (TSC2):TSC2_00820
single nucleotide variant	NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)	TSC2	Pathogenic/Likely pathogenic	16	2121925	2121925	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016643,UniProtKB:P49815#VAR_009439,Tuberous sclerosis database (TSC2):TSC2_00193
single nucleotide variant	NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro)	TSC2	Pathogenic/Likely pathogenic	16	2125803	2125803	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017661,Tuberous sclerosis database (TSC2):TSC2_00833
single nucleotide variant	NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)	TSC2	Pathogenic/Likely pathogenic	16	2129429	2129429	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018827,Tuberous sclerosis database (TSC2):TSC2_00845
single nucleotide variant	NM_000548.5(TSC2):c.3284+1G>A	TSC2	Pathogenic/Likely pathogenic	16	2129430	2129430	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018811,Tuberous sclerosis database (TSC2):TSC2_00916