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.6809-2A>T	PKHD1	Likely pathogenic	6	51768842	51768842	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.11398+2T>C	PKHD1	Pathogenic/Likely pathogenic	6	51512827	51512827	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000006.12:g.(?_51959860)_(52010469_?)del	PKHD1	Pathogenic	6	51824658	51875267	na	na	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	-
Deletion	NC_000006.12:g.(?_51632545)_(51648138_?)del	PKHD1	Pathogenic	6	51497343	51512936	na	na	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_51619071)_(51791383_?)del	PKHD1	Likely pathogenic	6	51483869	51656181	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)	PKHD1	Pathogenic	6	51938318	51938318	C	T	criteria provided, single submitter	-
Indel	NM_138694.4(PKHD1):c.2176_2177delinsT (p.Gly726fs)	PKHD1	Pathogenic	6	51915057	51915058	CC	A	criteria provided, single submitter	-
Duplication	NM_138694.4(PKHD1):c.2310dup (p.Ser771fs)	PKHD1	Pathogenic	6	51913386	51913387	A	AT	criteria provided, single submitter	-
Indel	NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)	PKHD1	Pathogenic/Likely pathogenic	6	51890114	51890116	AGA	CT	criteria provided, multiple submitters, no conflicts	-