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_000264.5(PTCH1):c.2495T>A (p.Val832Asp)	PTCH1	Likely pathogenic	9	98229463	98229463	A	T	criteria provided, single submitter	ClinGen:CA334396
single nucleotide variant	NM_000264.5(PTCH1):c.3488G>T (p.Gly1163Val)	PTCH1	Likely pathogenic	9	98212184	98212184	C	A	criteria provided, single submitter	ClinGen:CA350612
single nucleotide variant	NM_000264.5(PTCH1):c.2332A>C (p.Thr778Pro)	PTCH1	Likely pathogenic	9	98229626	98229626	T	G	criteria provided, single submitter	ClinGen:CA351583
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
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
Deletion	NM_000264.5(PTCH1):c.945+3_945+6del	PTCH1	Likely pathogenic	9	98242666	98242669	TACTC	T	criteria provided, single submitter	ClinGen:CA16618911
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
single nucleotide variant	NM_000264.5(PTCH1):c.1462T>C (p.Cys488Arg)	PTCH1	Likely pathogenic	9	98239870	98239870	A	G	criteria provided, single submitter	ClinGen:CA374118459
single nucleotide variant	NM_000264.5(PTCH1):c.1068-1G>T	PTCH1	Likely pathogenic	9	98241430	98241430	C	A	criteria provided, single submitter	ClinGen:CA374119547
single nucleotide variant	NM_000264.5(PTCH1):c.201+1G>A	PTCH1	Likely pathogenic	9	98270442	98270442	C	T	criteria provided, single submitter	ClinGen:CA374121236