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
Deletion	NM_001009944.3(PKD1):c.11058_11077del (p.Ala3687fs)	PKD1	Pathogenic	16	2143034	2143053	GAGGCATCCCCATAGCTGGCC	G	criteria provided, single submitter	ClinGen:CA658656506
single nucleotide variant	NM_001009944.3(PKD1):c.10618+2T>G	PKD1	Pathogenic	16	2144091	2144091	A	C	criteria provided, single submitter	ClinGen:CA394341207
single nucleotide variant	NM_001009944.3(PKD1):c.8978T>C (p.Leu2993Pro)	PKD1	Likely pathogenic	16	2152605	2152605	A	G	criteria provided, single submitter	ClinGen:CA394361091
single nucleotide variant	NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro)	PKD1	Likely pathogenic	16	2153575	2153575	A	G	criteria provided, single submitter	ClinGen:CA394363715
single nucleotide variant	NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter)	PKD1	Pathogenic	16	2153840	2153840	C	A	criteria provided, single submitter	ClinGen:CA394365149
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
Duplication	NM_001009944.3(PKD1):c.8017-1dup	PKD1	Pathogenic	16	2154640	2154641	G	GC	criteria provided, single submitter	ClinGen:CA658658345
Deletion	NM_001009944.3(PKD1):c.7704-2_7712del	PKD1	Pathogenic	16	2156017	2156027	GGCCAAAGACCT	G	criteria provided, single submitter	ClinGen:CA658658346
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
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