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
Indel	NM_000264.5(PTCH1):c.2834delinsAGATGTTGTGGACCC (p.Arg945fs)	PTCH1	Likely pathogenic	9	98221935	98221935	C	GGGTCCACAACATCT	criteria provided, single submitter	ClinGen:CA658797236
single nucleotide variant	NM_016169.4(SUFU):c.847G>T (p.Glu283Ter)	SUFU	Likely pathogenic	10	104356987	104356987	G	T	criteria provided, single submitter	ClinGen:CA377910608
Deletion	NM_000264.5(PTCH1):c.564_569del (p.His189_Val190del)	PTCH1	Likely pathogenic	9	98247982	98247987	TACATGG	T	criteria provided, single submitter	ClinGen:CA658656059
Deletion	NM_000264.5(PTCH1):c.1418_1432del (p.Gly473_Val477del)	PTCH1	Likely pathogenic	9	98239900	98239914	GCAACCAGCAGGACGC	G	criteria provided, single submitter	ClinGen:CA658656046
Deletion	NM_000264.5(PTCH1):c.741_746+1del	PTCH1	Likely pathogenic	9	98244230	98244236	ACAGGAGG	A	criteria provided, single submitter	ClinGen:CA658797235
single nucleotide variant	NM_016169.4(SUFU):c.183-1G>A	SUFU	Likely pathogenic	10	104268925	104268925	G	A	criteria provided, single submitter	ClinGen:CA377888078
Deletion	NM_000264.5(PTCH1):c.2251-28_2276del	PTCH1	Likely pathogenic	9	98229682	98229735	GCCCAGAAAAAGGAAGATCACCACTACCTGGAACAGAAGAGGCACAAGGTCAGAC	G	criteria provided, single submitter	-
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.1737_1745del (p.Val580_Val582del)	PTCH1	Likely pathogenic	9	98232197	98232205	CACCACTACT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000264.5(PTCH1):c.1531G>C (p.Gly511Arg)	PTCH1	Likely pathogenic	9	98239112	98239112	C	G	criteria provided, single submitter	-