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.1502A>G (p.Gln501Arg)	PTCH1	Pathogenic/Likely pathogenic	9	98239830	98239830	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279150
Deletion	NC_000010.11:g.(?_102504143)_(102550116_?)del	SUFU	Pathogenic	10	104263900	104309873	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_102549960)_(102550116_?)del	SUFU	Pathogenic	10	104309717	104309873	na	na	criteria provided, single submitter	-
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.3168+5G>A	PTCH1	Pathogenic	9	98220290	98220290	C	T	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.3450-2_3483del	PTCH1	Pathogenic	9	98212189	98212224	GGATGGTGAGGATCGCCAGCACAGCAAAGAAATACCT	G	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_95101697)_(95508371_?)del	PTCH1	Pathogenic	9	97863979	98270653	na	na	criteria provided, single submitter	-
Deletion	NM_016169.4(SUFU):c.649_661del (p.Gln217fs)	SUFU	Pathogenic	10	104353442	104353454	GGGCAGGGCATCCT	G	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.251_258del (p.Gln84fs)	PTCH1	Pathogenic	9	98268825	98268832	AGAGTCTCT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter)	PTCH1	Pathogenic	9	98268800	98268800	G	A	criteria provided, multiple submitters, no conflicts	-