基底細胞母斑症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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	NM_016169.4(SUFU):c.71del (p.Pro24fs)	SUFU	Pathogenic	10	104263974	104263974	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA116365,OMIM:607035.0005
single nucleotide variant	NM_000264.5(PTCH1):c.3450-1G>A	PTCH1	Pathogenic	9	98212223	98212223	C	T	criteria provided, single submitter	-
Indel	NM_000264.5(PTCH1):c.945+2_945+8delinsCGCT	PTCH1	Likely pathogenic	9	98242664	98242670	GTACTCA	AGCG	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_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	-
Duplication	NM_000264.5(PTCH1):c.290dup (p.Asn97fs)	PTCH1	Pathogenic	9	98268792	98268793	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000264.5(PTCH1):c.961del (p.Val322fs)	PTCH1	Pathogenic	9	98242357	98242357	AG	A	criteria provided, single submitter	-