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
copy number loss	GRCh37/hg19 9q22.32(chr9:98207091-98210940)x1	PTCH1	Pathogenic	9	98207091	98210940	na	na	criteria provided, single submitter	ClinGen:CA645372487
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.3460del (p.Ala1154fs)	PTCH1	Pathogenic	9	98212212	98212212	GC	G	criteria provided, single submitter	ClinGen:CA16612662
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.3450-1G>A	PTCH1	Pathogenic	9	98212223	98212223	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.3450-2A>G	PTCH1	Pathogenic	9	98212224	98212224	T	C	criteria provided, single submitter	ClinGen:CA336742