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_016169.4(SUFU):c.585_586dup (p.Thr196fs)	SUFU	Pathogenic	10	104352468	104352469	T	TTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658012
Deletion	NM_000264.5(PTCH1):c.2639del (p.Gly880fs)	PTCH1	Pathogenic	9	98224202	98224202	TC	T	criteria provided, single submitter	ClinGen:CA658657886
Indel	NM_000264.5(PTCH1):c.1755_1757delinsGG (p.Phe585fs)	PTCH1	Pathogenic	9	98232185	98232187	GCA	CC	criteria provided, single submitter	ClinGen:CA658656034
Duplication	NM_000264.5(PTCH1):c.1307dup (p.Asp436fs)	PTCH1	Pathogenic	9	98240376	98240377	G	GT	criteria provided, single submitter	ClinGen:CA658656050
Indel	NM_000264.5(PTCH1):c.3540_3543delinsTCC (p.Tyr1181fs)	PTCH1	Pathogenic	9	98212129	98212132	ATAT	GGA	criteria provided, single submitter	ClinGen:CA658657880
Deletion	NM_000264.5(PTCH1):c.3428_3429del (p.Gly1142_Ser1143insTer)	PTCH1	Pathogenic	9	98215780	98215781	CAG	C	criteria provided, single submitter	ClinGen:CA658657882
Duplication	NM_000264.5(PTCH1):c.3125dup (p.Cys1043fs)	PTCH1	Pathogenic	9	98220337	98220338	C	CA	criteria provided, single submitter	ClinGen:CA658657884
Deletion	NM_000264.5(PTCH1):c.1709_1721del (p.Leu570fs)	PTCH1	Pathogenic	9	98238323	98238335	GGAGAACGCCCGCA	G	criteria provided, single submitter	ClinGen:CA658656037
Deletion	NM_000264.5(PTCH1):c.1485del (p.Phe495fs)	PTCH1	Pathogenic	9	98239847	98239847	TA	T	criteria provided, single submitter	ClinGen:CA658656044
Deletion	NM_000264.5(PTCH1):c.602del (p.His201fs)	PTCH1	Pathogenic	9	98244468	98244468	AT	A	criteria provided, single submitter	ClinGen:CA658656058