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
Duplication	NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs)	PKD1	Pathogenic	16	2142114	2142115	T	TCGTAATC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656505
Deletion	NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)	PKD1	Pathogenic	16	2185520	2185526	TCCGCAGC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658361
Indel	NM_001009944.3(PKD1):c.924_948delinsTGGAT (p.Asp309fs)	PKD1	Pathogenic	16	2168045	2168069	GGCATCCACCTCGGCGGAGCCGTCT	ATCCA	criteria provided, single submitter	ClinGen:CA658658359
Deletion	NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)	PKD1	Pathogenic	16	2160153	2160154	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655504,OMIM:601313.0014
Deletion	NM_001009944.3(PKD1):c.6193del (p.Ala2065fs)	PKD1	Pathogenic	16	2158975	2158975	GC	G	criteria provided, single submitter	ClinGen:CA658658352
single nucleotide variant	NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter)	PKD1	Pathogenic	16	2156889	2156889	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA394371975
single nucleotide variant	NM_001009944.3(PKD1):c.7164C>G (p.Tyr2388Ter)	PKD1	Pathogenic	16	2156851	2156851	G	C	criteria provided, single submitter	ClinGen:CA394371695
Deletion	NM_001009944.3(PKD1):c.7704-2_7712del	PKD1	Pathogenic	16	2156017	2156027	GGCCAAAGACCT	G	criteria provided, single submitter	ClinGen:CA658658346
Duplication	NM_001009944.3(PKD1):c.8017-1dup	PKD1	Pathogenic	16	2154640	2154641	G	GC	criteria provided, single submitter	ClinGen:CA658658345
single nucleotide variant	NM_001009944.3(PKD1):c.8162-1G>A	PKD1	Pathogenic	16	2153897	2153897	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA394365274