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
Duplication	NM_000264.5(PTCH1):c.1086dup (p.Met363fs)	PTCH1	Pathogenic	9	98241410	98241411	T	TG	criteria provided, single submitter	ClinGen:CA16618910
Deletion	NM_000264.5(PTCH1):c.945+3_945+6del	PTCH1	Likely pathogenic	9	98242666	98242669	TACTC	T	criteria provided, single submitter	ClinGen:CA16618911
Deletion	NM_000264.5(PTCH1):c.606del (p.Leu202fs)	PTCH1	Pathogenic	9	98244464	98244464	AC	A	criteria provided, single submitter	ClinGen:CA16618912
single nucleotide variant	NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter)	PTCH1	Pathogenic	9	98244480	98244480	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618913
Insertion	NM_000264.5(PTCH1):c.489_490insTA (p.Glu164Ter)	PTCH1	Pathogenic	9	98248061	98248062	C	CTA	criteria provided, single submitter	ClinGen:CA16618914
single nucleotide variant	NM_000264.5(PTCH1):c.1068-1G>A	PTCH1	Pathogenic	9	98241430	98241430	C	T	criteria provided, single submitter	ClinGen:CA374119545
single nucleotide variant	NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg)	PTCH1	Pathogenic/Likely pathogenic	9	98212173	98212173	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374111537
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.3440T>C (p.Phe1147Ser)	PTCH1	Likely pathogenic	9	98215769	98215769	A	G	criteria provided, single submitter	ClinGen:CA374111664