バート・ホッグ・デュベ症候群

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
single nucleotide variant	NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)	FLCN	Pathogenic/Likely pathogenic	17	17117130	17117130	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586246
single nucleotide variant	NM_144997.7(FLCN):c.1540A>T (p.Lys514Ter)	FLCN	Pathogenic	17	17117169	17117169	T	A	criteria provided, single submitter	ClinGen:CA10603293
single nucleotide variant	NM_144997.7(FLCN):c.1539-2A>G	FLCN	Pathogenic/Likely pathogenic	17	17117172	17117172	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583451
Deletion	NM_144997.7(FLCN):c.1177-169_1538del	FLCN	Pathogenic	17	17118299	17119986	CTTCATCCACTCCTCCTTGAGGCAGACGAGGCACTGGTCCACCACATCCACAGACAGGTTCTGGTTGGTCAGAGCCGCTTCAATCTTATTCAGGATGGTGGGGCCCACTGGGGAGAAGGGCAGGGGCAGAGCAAGGGCAGGCGTTAGCGCGGGGCGGGGGCATCTTCTCACAAAAAGGACACTCTGCCTGGGGGCACCCACCTCGGTCTGCAGCTACAGGGCTCCCACTGGTCACCACAAACTCGTACTTGCTGAGAGACTGGTCATCCTCACACCCCACAGGGTGGAGGGTGGAACGTGCGGCTGCGTGGACCTCCACGATGACAGCAAACTCTGTAACAACACAAGGCCCGTGGCTCCTCATCTCCCCCATGCTCCTCACCTCCCCTGCGCTAGCCCACCGTGGGCCCCACTCCGCTCATCCCAGGTCAGTGGGGAAGGCTGCTGGTGAAAAGACTGGCCCAAATCAATGCTTTGGTATTTAAAACCTTTCAGGTTATTCGTGAATAGTTAAGGGTTAACTTTTGCCTCAGTTAAACTAATAATTTATTATATTACAATAATCACAAAGTACTTTATATACATCAATTTACCTCTGGCTAAGCAGCCCTATGAGGGTGGTCTCACCATGACCCTATTCTACAGATGGGGAAACAGGCCTGGAGACGTTAAATAACCTGCTCGTAGTGGTAAGAATTTGAAGTCTGTTTGAAACCAGAGCCTGTGTTTCCAATGCTACCCGGAAAAAAGGCACTGCCTCGCAGGGAGTCAGGACCCAGCCTGGGTGCTGATTGGGGGCTCAGGGTAGCTCCACTCGGACCATGAGTCAGCAGCTGCTGGTCACCGCTGTGCTGGGGGAAGTCACTGATGAGCCTGGGGGGCTGATCCCTGGACATCCCCAAACCAAAAGACCAGGGGTTTGCTGAGCCCTGACCACACCAGTGAAGGCCGGGAAGACCTCGGGCACATGAGGTGAAGAAAAAGGCTGGAGGAGAGCAGAAGTCAGGACAGGGGAACAGTAGAAGAGTGAGGAGAGGATGGCAGGGCCCACAGAAGCAGGCAGCTCACACCCAGCATTCAGCAGGCCTCCATCTCATAGGCACCCAATCACCAGGACGACCAGGATCCTCCGGCCAGGGACACATCCTCCCACCCCACGATGGTGACCTGCAGCCCACTGACGACAGTCCCTGCCAGCCAACCTTCCCATCAGGTCCACTCACCCACCGCTACCTGTGTGAAGATAGAACACGGAGGCCCAGAGCCATGGGGGAAGCTGGCCCTGCAATGAGGCCTCCTCTCCACAACCCATGACAGAGATCTGGTTCCACTTTGGGCCTGAGGCGTGGGGAACCTCAGCGCAGGGCATGGCCCCACAGCCCGCGGGGGCACGCACCTGAGGAGAGCACGTGGGGGGGGATCTGCACGTGCGGGCTGAGCCCCAGGAAGTTGCACCGATAGGCCTCCTCGTACTGGCTGCTGTATGGGATGATGCGGACGCAGCCCACGGGAAGCATGGTCTGAGGAGGACAGCAGGACTCAGACCAAGGACACGAGGAAGCCCTCAGCCCCGGCCATCCATGCTCTACTACCCAAACCCCACACGCCTCCTGCAGCCCGGTCCAAGCCCTCCCTCCTGCCAGAGGAGTCCCCAGACTCTCAGCCCACAGTGGGGGTGAGGGGGGAGGG	C	criteria provided, single submitter	-
single nucleotide variant	NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)	FLCN	Pathogenic	17	17118304	17118304	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224159
single nucleotide variant	NM_144997.7(FLCN):c.1532G>A (p.Trp511Ter)	FLCN	Pathogenic	17	17118305	17118305	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586247
Deletion	NM_144997.7(FLCN):c.1528del (p.Glu510fs)	FLCN	Pathogenic	17	17118309	17118309	TC	T	criteria provided, single submitter	ClinGen:CA10586249
Deletion	NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)	FLCN	Pathogenic/Likely pathogenic	17	17118313	17118315	CCTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224156
single nucleotide variant	NM_144997.7(FLCN):c.1504C>T (p.Gln502Ter)	FLCN	Pathogenic	17	17118333	17118333	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603572
single nucleotide variant	NM_144997.7(FLCN):c.1459G>T (p.Glu487Ter)	FLCN	Pathogenic	17	17118378	17118378	C	A	criteria provided, single submitter	ClinGen:CA193015