遺伝性出血性末梢血管拡張症 (オスラー病)

小児・神経疾患

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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
Deletion	NM_001114753.3(ENG):c.119del (p.Gly40fs)	ENG	Pathogenic	9	130605473	130605473	GC	G	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127819602)_(127820057_?)del	ENG	Pathogenic	9	130581881	130582336	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127854269)_(127854482_?)del	ENG	Pathogenic	9	130616548	130616761	na	na	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.1236_1687-77del	ENG	Pathogenic	9	130579559	130582215	CCAGCCCACCCTAGAGCCTTGGCTTTGAATCCCATCTCCACCGCTTCGTAGCTGGATGCCTCTGGGTGAGTCCTGGAAGATCTGTGCTGTGGGAGGGTGCCTAGTGGACGATCCCTGGCTGCTGCTGAAATGTTTCCTGTGAGTTCCTGGAGGCCTTGATGCCCAGGAGCACTGTGGAAGCACTATGCATCCCTCACCCTTGTGAACACTTTGGAGCTATGAGCCAGGTCAGCCCAGAGTCCCAGGCTCACTCTGGCTGGAGGGAGAGGCCCACTTAGGGGAGTTGAAGGCTTCCCTAGCTTCCTATGACCAGAGAAGTTTGTAATCCTGGAGGCCTGTCTGTGCAAGGGCCTGGGGGTGACTCTGGGGGCGTCCAGGATAGATTGCCTGAGAGTGGGGGTCACCAGATGGTGAAGTGTTGTGACTGGCAAATACAGAAAGCCAGGAGTGTGTGTCCTTTGTCCGCCTCTCTTCCCTCAGGTCTCCTGTTCTTTGAGATTACACTGGTGACCATACTACATGGATGTGCGGGTGGTTAGATTCCTGGGTGGGAGGGTGGATGGATGGATGGACGGACGGGTAAGTGAAAGGATGGATGGATGGATAGATGGACAGTGGCAGCTGCATAGTCTGCCAGTGCCCCAGACACAGCAGTCCCACCAGAAAGCTCTCGGGTGGCAGAAAGTGCTGCTGGCAGCCAGACTGCCAGGCCACATGCCTGATTAAGGCTCCGCCCCTCACCAGCTGGCCCCACATCCCTGTGGGCTGCCATGTCCCTTCCTGCAAACCACAGACCTGGAAGCTCCCACTTGAAGCTGGGGCCGGCCCAGGCCCCACTCACCTGGTCTTGAGACCCGGTCTTGGGACGCAGGGCTACCGTGCAGCTGAGGGTGCCGGTTTTGGGTATGGGTACTGTGTAGAAGTGGAGGAGGAAGCTGAAGCGCGGGTCACCCTCGGGGCTTGGGGACAGCAGGCTCACACAGTTGCCCTTGGCCGCCCGGCCCTGGATGAGTTCCACGGTGCCTCCCTCAGGCCCCAAGTCCAGGTGGCAGCTGTCTAACTGGAGCAGGAACTCGGAGACGGATGGGGACACTCTGACCTGCATGGGTAGGTAGGGCCACGCGGCATGGGCAGCTGCTCTTCACCCCACCCCACCTGCTGCCTTCAAATATCGGCTAGAATTAAGAGTTCCCACCCCTGAGTCCTCACAGTGGAAAGAAAGACATGGACCTGTCTGGGGCAGAGGAGGAGGACAGGGCCACATCCTTGTCAGTGTCCCTGAGCAATGCCTTCTCTGTCTCTCCCTCTCCCGTGCACCCAGGCTGTCTCCCTCCTGACTCTGGGAGTCTCATCTCCTCTGGAGTCATGGTGGGAAGAAAGGCGGAGAGGAAGTTCCAGGAGCTGGGAGGCCCGAGGGGTGACAGGCATGCCAGGTACCTGCACAAAGCTCTGCTGCCCCGGCTCGATGGTGTTGGAGGCCTGGAGGAAGTGTGGGCTGAGGTAGAGGCCCAGCTGGAAAGAGAGGCTGTCCATGTTGAGGCAGTGCACCTTTTTCTGGGGGAGGACGGGAGGGAGACTTGGTCAATCTGGCGGCGCCAGCCAGGAGGGCGAGGGGTGTGGGGAGGAACAGGCATCATGGCCCTGTGGAGTTGCCTGACTCTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCTTCACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACTGCGCCCGGCCCTTTTTTTTTTTTTTAAACTAATATTTATCAAGGAGGCACCAGCTGCCAGGCTGTGTGAAGAGCTTCCACACAGCACCTCATTGGCTGCCCAGAAGCACCCTGTGGCGCAGAGTCCTTTCTTAGGCCACCTTTGGGCCCAGAAAACTAAAGTGACTTGCCCAAGGCCACACAGCCAGTATGTGCTAAGCCCTCTGACTTGAGAGACCAAGAGCGTCACCCTCAGCAGTCCTGCTCCGGTCATACAGAAGGGGAGACCGAGGCATTCCAGACACACATGGCTTGCCAGGAGTTTCCCGAGGCCTGCTCCCTCCCAGGCCAGGAAGAGGCCCCGGCCCAGCAGCAGCCCCTGGGCCAGGTGGGTTAGCACGTGACTGTCCATCTCACCCGCTGTGGTGATGAGCTCGACAGGATATTGACCACCGCCTGCGGGGATAAAGCCAGGGAGCTGGTCAGAGCCAGAAAGGACCCCAGAGGGTATCCCACCCAATACGCCCATTTTTGCAGATGGGGAGACTAAGCCAACCAATGGCCAAGCTTGTCTTGTGTTCTGAGCCCCTGCAGCCTGCTCTCCCAAACACACCTCCACCCTGGGGGATCAGGGAGGGCACCTGAGGGGGCACCAACCAGGCTGGTCCTGATACCTTTTTGGCCCCAGCTCTTACCTCATTGCTGATCATACTTGCTGACACCTGCATGCCA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.1311G>T (p.Arg437=)	ENG	Likely pathogenic	9	130581901	130581901	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.831C>A (p.Tyr277Ter)	ENG	Pathogenic	9	130587239	130587239	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.817-1G>C	ENG	Pathogenic	9	130587254	130587254	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001114753.3(ENG):c.572del (p.Gly191fs)	ENG	Pathogenic	9	130588091	130588091	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.68-3C>G	ENG	Likely pathogenic	9	130605527	130605527	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.23T>C (p.Leu8Pro)	ENG	Pathogenic	9	130616612	130616612	A	G	criteria provided, multiple submitters, no conflicts	-