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
single nucleotide variant	NM_016169.4(SUFU):c.1023-2A>T	SUFU	Likely pathogenic	10	104375023	104375023	A	T	criteria provided, single submitter	ClinGen:CA16612826
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
single nucleotide variant	NM_000264.5(PTCH1):c.3169-1G>A	PTCH1	Likely pathogenic	9	98218696	98218696	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612830
single nucleotide variant	NM_000264.5(PTCH1):c.3003T>A (p.Tyr1001Ter)	PTCH1	Pathogenic	9	98220460	98220460	A	T	criteria provided, single submitter	ClinGen:CA16612835
Duplication	NM_000264.5(PTCH1):c.2342dup (p.Pro782fs)	PTCH1	Pathogenic	9	98229615	98229616	T	TA	criteria provided, single submitter	ClinGen:CA16612841
single nucleotide variant	NM_000264.5(PTCH1):c.1526G>A (p.Gly509Asp)	PTCH1	Pathogenic	9	98239117	98239117	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612860
Deletion	NM_000264.5(PTCH1):c.1308del (p.Asp436fs)	PTCH1	Pathogenic	9	98240376	98240376	CG	C	criteria provided, single submitter	ClinGen:CA16612863
single nucleotide variant	NM_000264.5(PTCH1):c.297C>T (p.Gly99=)	PTCH1	Pathogenic/Likely pathogenic	9	98268786	98268786	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612878
Deletion	NM_016169.4(SUFU):c.341del (p.Ser114fs)	SUFU	Pathogenic	10	104309750	104309750	AG	A	criteria provided, single submitter	ClinGen:CA16612919
single nucleotide variant	NM_000264.5(PTCH1):c.2974G>T (p.Glu992Ter)	PTCH1	Pathogenic	9	98220489	98220489	C	A	criteria provided, single submitter	ClinGen:CA16612920