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.846dup (p.Glu283fs)	SUFU	Pathogenic	10	104356980	104356981	G	GC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000264.5(PTCH1):c.747-54_1261del	PTCH1	Likely pathogenic	9	98240423	98242924	GAAAGCACCTTTTGAGTGGAGTTCTGTGCGACACTCTGATGAACCACCTGTGGTCACAACAGAATGCGAAATGCCCAAATGCAATGAACACTTCCACAAGCCTCGACAGCACAGATCTCAGGTGACACAGCGCAGCCCTTCTTTTTTTCTGATGCATTTTTTAAAAAAGTTCTACGTGATTCCAGGGCAGGGAGAGAAGCTGAAGTTGGGCTAACATTAAAGAACCCTGTTTTAGGACAAGGGCCATGGCTAATCAGTGGCAGTGGGTGCTGCTGAGGGCTGGTGTCGCTGGAGTTCACTCTGAGTGCTGTATTTACTCCAGGGCTGAGACTGCTCGTCTCTTCTCCGTTAACTTCACAATTGACTTGCGGTCCCATCGGCTCCCCACTAATCCAAAACAACTCATTCTTATGGCCCTCCTCCCCCTGTTCATTTGCTGGCCACTTTTAAAAGGTCACATGCAGCTCAGTAGAGGTCACTGCTTGGGAAACAAAGGCCAGCTCCTGTCACATGACCTGACCAAGGGGCCTGCAGCTGTGAACAGATTCTATGCCTTGCTAATGTTTTCCAGACACCTTTGCTAACCAAGTGTTTTTTTAAACACTGTTATGTGCTTTAGTTCTGGAATTCACAACTGGTTACTAAACATGTCTCAGGGCACCCCAATTAGAACTAGTCTTTTAGATATTATCCCAGGATTTTCAATATCAAAGAAGAGGAAAAAAGTTTTCATCCCATCAAGTTCCCAGAATTGCAATGTTTTGAAAATAAAGCGAATGGAAAGAAATGTTTTAAATAATGGTGAAAATGAAGAATTGCATAACCAGCGAGTCTGCACGCCGATTCGAAGGTGGGTTTACCTCCACATATGTCCTCTGCCAGGCCTCCAGGATGGCTGCCGCTTTGTCCTCGTTCCAGTTGATGTGTGAGACATACTCGTACCCCTTGAAGTGCTCGTACATTTGCTTGGGAGTCATTAACTGGAACATGGTCTGCAGGGCATGGGCGCTGCAGCACAGTCCAAGGGAAGGCACATCATCAGTATTCCCAGGAAGCAGTTTCCACTGCCTCAAATCCCCAGCCAGCTCCCCCAACTCACTGGCTGCAATTCTTTTCCTTCTCTGTGAGCACATGTTTCCATTAAAATGGGACCAGGATGGTTATTTTATTTAATAGATTGATGTACCATATTAAAGGTATAACCTTACAAACCTTTTACAGATATACCCCAAAATTAAATTAATAGGCAATTTCCTTTCACAGTTTCCATTCCATGAAACAGGAAGGGGAGAGGAGCAGATAGCTTGAACAGATACACCGGGCTCAGTGACGCATACTTGCTGTGCAGAAATCCCAGACGGTGGCGTTCCCAAGGGAGAAATCTTACACGAAACGCCAGACACCTGACTGACCAGAGTCCACAAGTGCACAAAGGATAATTCTTATTGAGCCGCTGGCTCTCCATCTTTTGCTAACAGTCTATGACACTGTGCAGCTCGCACCACCAACTCTCTCTGACCAGTGTGTCCCGGCCTACTTTACACCTGCTCCCATTCTCTACCTAATGGGCAGATCTCCTTAAACCCTATAGTCAGGAACTATGGTCCTGATGAAAACTACAAATCCATTCTTGAAAAATTCCCCACAAGGTGCTTTTTCAAGCTGTTGCAGTCTGCTACTATTTCTTAATATTCTATGACGCCACCTGGCTAGCGAGGATAACGGTTTAAGTATTAATACAAATACACTTGCCGATGTCAGGAGGGAAGTGGCTTTTGAGGAAAGGAAGAAGACTACAGGGCATAGATTGTCCTCGGGAGCTGGCTTACCTGACGAGTTTTCCAGTGCTGTTCTTGACTGTGCCACCCACAATCAACTCCTCCTGCCAGTGCATATACTTTCTGGATAAGCCATGACATCCACCATTCAAAACAAGGGCCATATCAAGAGGCTAAAATAAAAAGACAGCCACATAATTATGGGAATTAGTAGGCAGGTCACATGCCTTGTTAAAATCCAGTGCATTAAGGGCTTGTGTGTTTCAGAGAGAACATTAATAGCAAGGCTAATGGGAGGTGTATGGCAAATCTTACAGCAAAATTTAGCTCTATAAATAAACTTAGTTCCATAGACAAAGACGATCATGGAGAATGAAATGTTAAAAATGAAAATAATAAAGTGAACGATGAATGGACACAAAAAAGTGTTTTGCTCTCCACCCTTCTGAGAGCGCTCACTGCTGGTACTCACTTTGGTTGAATTTTTGTTGGGGGCTGTGGCGGGGCAGTCTGGATCGGCCGGATTGAGGCAGGGGCGGTCCATGTAACCATGACCAACCTCAGCCTTATTCAGCATTTCCTCCCAGCTGTCCACTTGATAGTTTATTTTCTTTAACTCTTCCAGGAATTCCAAAGGGTCGAAGTTTGTCCACCGCAAAGGAGGTTTACCTCTGCAAAAGAAATTAGGAGACGAGACCATGAAAAGAGCCTTCTAAACGCATCGT	G	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.3488del (p.Gly1163fs)	PTCH1	Pathogenic	9	98212184	98212184	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.2802T>G (p.Tyr934Ter)	PTCH1	Pathogenic	9	98221967	98221967	A	C	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.1342_1345del (p.Leu448fs)	PTCH1	Pathogenic	9	98240339	98240342	ATGAG	A	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.1190_1197del (p.Glu397fs)	PTCH1	Pathogenic	9	98241300	98241307	GCCAGGCCT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.873C>G (p.Tyr291Ter)	PTCH1	Pathogenic	9	98242744	98242744	G	C	criteria provided, single submitter	-
Duplication	NM_000264.5(PTCH1):c.652dup (p.Gln218fs)	PTCH1	Pathogenic	9	98244417	98244418	T	TG	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.1764del (p.Leu589fs)	PTCH1	Pathogenic	9	98232178	98232178	GA	G	criteria provided, single submitter	-
Deletion	NM_000264.5(PTCH1):c.1737_1745del (p.Val580_Val582del)	PTCH1	Likely pathogenic	9	98232197	98232205	CACCACTACT	C	criteria provided, single submitter	-