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	NC_000009.12:g.(?_95101697)_(95508371_?)del	PTCH1	Pathogenic	9	97863979	98270653	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_95442982)_(95508549_?)del	PTCH1	Pathogenic	9	98205264	98270831	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 9q22.32(chr9:98207091-98210940)x1	PTCH1	Pathogenic	9	98207091	98210940	na	na	criteria provided, single submitter	ClinGen:CA645372487
Deletion	NC_000009.12:g.(?_95446906)_(95508367_?)del	PTCH1	Pathogenic	9	98209188	98270649	na	na	criteria provided, single submitter	-
Indel	NM_000264.5(PTCH1):c.3540_3543delinsTCC (p.Tyr1181fs)	PTCH1	Pathogenic	9	98212129	98212132	ATAT	GGA	criteria provided, single submitter	ClinGen:CA658657880
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
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
Deletion	NM_000264.5(PTCH1):c.3488del (p.Gly1163fs)	PTCH1	Pathogenic	9	98212184	98212184	GC	G	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	NM_000264.5(PTCH1):c.3460del (p.Ala1154fs)	PTCH1	Pathogenic	9	98212212	98212212	GC	G	criteria provided, single submitter	ClinGen:CA16612662