多発性嚢胞腎 - MGenReviews

多発性嚢胞腎

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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_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter)	PKHD1	Pathogenic	6	51524159	51524159	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.10826del (p.Lys3609fs)	PKHD1	Likely pathogenic	6	51524098	51524098	CT	C	criteria provided, single submitter	ClinGen:CA16041024
Deletion	NM_138694.4(PKHD1):c.10852del (p.Arg3618fs)	PKHD1	Pathogenic/Likely pathogenic	6	51524072	51524072	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)	PKHD1	Pathogenic	6	51524068	51524068	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.10955del (p.Pro3652fs)	PKHD1	Pathogenic	6	51523969	51523969	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs)	PKHD1	Pathogenic/Likely pathogenic	6	51523951	51523952	GAT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041023
Deletion	NM_138694.4(PKHD1):c.10998del (p.Ile3666fs)	PKHD1	Pathogenic	6	51523926	51523926	CA	C	criteria provided, single submitter	ClinGen:CA658796775
single nucleotide variant	NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51523850	51523850	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs)	PKHD1	Likely pathogenic	6	51523774	51523777	CTGAG	C	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.11174_11175-4798del	PKHD1	Likely pathogenic	6	51518816	51523750	AGGTCTTTCTAATGGAAGAGATTTAATTCAAGATATTGGTTGCACAGGAGTTTTAGAATAGTAGAAAAGTAAAACAGGCTACCTTTCACTGTATGTGATATATTGAATGATAATTTATTGTGATTTACAATGTGCTTAGGCACACTTGAGAATATAATCATAAGTCGAAACCTTGACCACCTAATAAATTTTATAAAGATTAACATTTTATACTCAAGTTAATGTTACAAAAAACTGGATTAATGGCTAAGCAGCTTCATAGAGAATTAATGATTTATTTGTAATAGATACGGAATGAGATTTAGTATAACATCTTCTCATTAAATAGTTGAATAAATGTTGTTTTTCATATCCATTAATTTTCAAATCTCTAGATTCTTATAGGGACCATATGATATTTTGAACATAATAGCTGTTCGGTTAACACTGGGGAATAAAAAACATTGGCATGTAAGCTTTCAAGAGTCTATTATATTTACCTATGAGTTCACTATGTGTACAAATAATTCTTAAATTAATTGATTTTAAGTTAGTGTCGTCTGATTTTGGACTTAGAACTTTTCTGGATGTGGATATGTCAACAGCAACAATAGATTACAATTAGCATCCTTTTCATAGCAAAATAGCAAAAAAAAAAATACAATAGATTACAATTAGCATCCTTTTCACAGCAAAATAGCAGAAAAAATACAAACCGCAGGACAAGAACTAAAGATTTAGTGGTCTGGCACCATTCAGTATACGAAAAATAGTACCCAAGGGCATCACAGCAAAAACAGGATTGTGAAGTAAATGACAGATTTAATGATGACCATGAATCGTCATAACAAATGTGAACAGTCTACATTATTTCCCATTGAATAAGCCTGGGTATTATGCAATCTTTGTCTTTTTTTAACGATTAAGAGTTGAAGACTTTTTAAAATGCTTGTTATTAATGGAACAATTTTTAATTGTATGGAAAGCTTGCTTACGTAGAACATCTCACTTTCCCACAAAGCCACACATATGAAATAAGATTACAATAATTTTGCCATCGACCCAATTAAACAAAGTAGTGAATTTGTACTGTAGTGAAAAGAAGAAATGATGTAAAAACACTCTTTAATGGCAAAGTTGTGATTTTTGTCATAGGGAAGAAAAGAGACAAGCTGGCAATATAGGAATCTCTTCTAGGATGAACATTCTGCCGGTCTGGAAAAGAACATACTTCCTTGCTGATAGAAAGATTCTACTCTTTCATGCTCCAAACAGCTCTCTTCTAGAAAGCAGGTGCCCAGGATACATAAAGAGGAGAAGATGCAGAAGAGAAAATGCTAAAGGTGACTGAATGCCAAAAGACTTGTATAATTGATTGGCTTTCCTGGTTTTCTTCTCTATTCCAAAGCAACCTGATAGGGTGCTCCTTATGCAGAATGGGGGAACTTAAAAAGCTACTAATATGATAAGTATATACACATTGCACACACCCAGACACACACTCCCACAGTGTCATGCTCACCCTCACAGTAACTGTTTTCATGGCCCAAAATTCATGGCAATGTCACAAACAAAGAGCTTTATGTGATATGCCATATTACTTTCTATTGCTGTATAACAAATTACCACAGTCAGTGGCTTACAGTAACACAAATGTGTTATCTCCAGGGAGTGGGCCAGGAGTCCAGACAGGCTTGGCTGGGTTTACTGAAGAGTTCACTTCCAAACAGGTTGTTGGAAGAATGCATTTCCTATGACTACAGAATTGAGGTCCCTGAAAAACCACAATGAGATACTATCTCATGCCAGTCAGAAAGGCAATTATTAAAAAGTCAGGAAATAACAGATGCTGGTGAGCCTGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGAGTGTAAATTAGTTCAACCATTGTGGAAGAGAGTGTGGCGATTCCTCAAGGATCTAGAACAAGAAATACCATTTGACTCAGCAATCCCACTACTGGGGATATACCCAAAGGATTATTTATAAATCATTCTACTATAAAGACACATGCACACATATGTTTATTGCAGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCATCAATGATAGACTGGATAAAGAAATGTGGCACATATACACCATGGAATGCTATGCAGTCATAAAAAAGAATCAGTTCATGCCCTTTGCAGAGACAAGGACAAAGCTGGAAGCCATCATTCTCAGCAAACTAACACAGGAACAGAAAACCAAACACCGCATGTTCTCACTCATAAGTGGGAGTTGAATAATGACAATACATGGACACAGTGAGGGGAACATCACACACCGGGGCCTGTTGACGGGTGGGGAGCAAGGGAAGGGAGAGCATTAGGACAAATACCTAACGCATGTGGGGCTGAAAACCTAGATGGCAGGTTGATAGGTGCAGCAAACCACCATGCCACATGCAAGAAGACAACAAATGACAACAGAGATCAACAAAGTTTTGGAAGTTGGAAAACATGGTGATGGAAACTTAGCTAAGCAGAGGATGCTTGAATCCAGATGCCTCTAGAGAAAGACCAGAAGAGGCTAGTTCACTGTGTATTATTTACTTTAAAAGTAGATGGCTACTCCGTTTCTTCCCACAAAACAGAGTTGGTAGCTTATAGCTTTTCTTTCTTTTTTTTTTTTTTTAAGACAGTATCTGGCTCTGTCACCCAGGCTGGTGTGTAGTGGCATAATCTCAGCTCATTGCAACCTCTCTCTCCCAGGCTAAAACAATCCACCTCAGCCTTCCAAGTAGCTGGGACTACAGGCATGCACCATCACATCCAGCTAATTTTTGTGTTTTTGTAGAGACGGGGTTTCACCATGTTGCCTAGGCTGGTCTCAAACTCCTGCGCTCAAGCTATCCACCTACCTCCACCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCATCACGCCTGGCCCAAAGTTGGTAGCTTTTGAAAGTAGCTAGTACTCTCTTAGAAAAATGTGTCCAGTATGGCCTGAATTTGTTGAAATGCATATAAGCTCATTAAATTAACGAGAGCAAACCACTGGAGAACATCCTTGGTACTTTTCCATGAAAAAACTTAAAGTATAATAATAATAAAAAAAAAAAAAAGAAAGAACTGCATTCCTAGACTCATTTCTGCTGGCTTAAGGTCAGTTCATGGGCTCGTCAATGGCTCTCCAGTGAGTTCAATGGAAGACCCAACTGACTGTGATCAAAGCTGAAAGAAACAAGGCTGGCTCTGGAGACTGTGTCGGGCTTTAGGGTTTTGTTTCATTTTGGTTTGGTTTTTTATCATACTGTGCAACACTAGAAAACATGAGAAACCTTGCTAATTCTCATTGAATGCCATAGGATATGGCATTTCTTATTCGGGAGAAATTTGTTCAGACATACTTAAGAAGCAGCCCTTCTTTATCTTCAGAAGATTTACTCTTTGCCTTATGTCTAGAAAATGTCTTTTAAAATGCTAAAGAAAAAGAGAGAGAGATAGGCGGATAGAACACATTCCAACACAAAATCAATGCTATATTATACACTTTGAACTGTTTCTTATTAAATCAGAAATAACTGAGTCAAAAGTAAAAAAACATGATGGCTATGACAAATGGTGGGTGATAAATAAAAGTGATCTTTTCTCTGAAGCTGTTTCACTTCCTCATGATAGAATGGCATGCCCCACATATATGTGTGTATATATCTAAACTTGTGCTGGATCCACTCTCTGCTGGTTTTCTTCTGATGTACCTCTATTGCTTCTACTCATTGACTTTTCTCTGTTTCTAGTTAAAAGCACAATATTAACTGAGTCGTCTTTTATATATAATATAAAATCAGTCATTTTGGAATTACGACCTATTAGAAAGCTCAGTACTGTAAAATCTAAATAAAATTAAGCAATAAACTGACTCTCTTTCTCTCTAGACAAAAATTATTCATGTATGTATACTTATAATATACTTACAAGAACTCAGTGGGATCTAAATAAAATTGGGCAAAAGGAAAGATATTTCAATGTAAGCTAAGATGCATCAGCATCATTTCTTTAAGCATTCTAATTCTCATACCACCATACACAATATTATAATAATGTCACTAACATGGTGAAGGTTTGGTAGTTGACAAAAATATCCAAAACTGAATAAATTTTGAATAATAATAAGCTATGAGTACCTTTTAATTTTAAGTTAACAATTCCCAAAGGCCTTAAATCAACCAGATCCAGAAAAATTTGCTTGCATTTTTTCTCATCCTCTTTATATATCAATGTATAACAGGAAAGAGGAACATCCATCTCTATTATAAACACAAAAACACTAGCTAAACTTTCACTTGGATATGTTGCTCTGTGTACAAAAAGACAATCAATGTATTAGCTGAATATTTCTCCAAGTGTGAGGACGTGGTTTTCTTTTTAGTTTTGCTTTTTATTTAAGTTCTACCAAATTCCACATTCACTGGAGATGGTTGTATAGAAGTAGTCACTACCCATTAAATACTAATAGCTTATTAGCACTATCACAAATAAAATGATATAGCAGTAGCAACAGAATAACATCTATTTCACTTTACCAACCCTAGAACCTAGCCCATTGCTTAAATTCATTAAATAAATAAATAAACAATCAAATGAACTAAAAACAAGTTGCTTCAAAAATATCTCTTCCTACATGCTTTTCACCTTAAGGAATCAAAATATAATGTTTTCTACCACCTTGGAAATAGAATAATCATGAAAAACATGAATTTAATATAGAATCTAAAAACTAAGAATTTAAGTCTTTAAATGACTCTTTGAATTTTTATTCTTATCTTAAAAAGCAGATGAGTTATATGATTCAGTGTAAGTAGATTGACATTTGCAACATATGTCAATATGGACCTAAAAAATCAGCCCTCATTTGGATGTGAATATAATTAGTACTTACC	A	criteria provided, single submitter	-