基底細胞母斑症候群

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_000264.5(PTCH1):c.3459del (p.Phe1153fs)	PTCH1	Pathogenic	9	98212213	98212213	CA	C	criteria provided, single submitter	ClinGen:CA645369407
Deletion	NM_000264.3(PTCH1):c.3450delG	PTCH1	Pathogenic	9	98212222	98212222	AC	A	criteria provided, single submitter	ClinGen:CA645369408
single nucleotide variant	NM_000264.5(PTCH1):c.3450-1G>A	PTCH1	Pathogenic	9	98212223	98212223	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.3450-2A>G	PTCH1	Pathogenic	9	98212224	98212224	T	C	criteria provided, single submitter	ClinGen:CA336742
single nucleotide variant	NM_000264.5(PTCH1):c.3449+1G>A	PTCH1	Pathogenic	9	98215759	98215759	C	T	criteria provided, single submitter	ClinGen:CA336067
single nucleotide variant	NM_000264.5(PTCH1):c.3440T>C (p.Phe1147Ser)	PTCH1	Likely pathogenic	9	98215769	98215769	A	G	criteria provided, single submitter	ClinGen:CA374111664
Deletion	NM_000264.5(PTCH1):c.3428_3429del (p.Gly1142_Ser1143insTer)	PTCH1	Pathogenic	9	98215780	98215781	CAG	C	criteria provided, single submitter	ClinGen:CA658657882
single nucleotide variant	NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe)	PTCH1	Pathogenic/Likely pathogenic	9	98215814	98215814	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)	PTCH1	Pathogenic/Likely pathogenic	9	98215815	98215815	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582674,UniProtKB:Q13635#VAR_010980
Deletion	NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs)	PTCH1	Pathogenic	9	98215844	98215845	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612827