PKHD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 148251	GRCh38/hg38 6p12.3-12.2(chr6:51375939-51984009)x3	LOC101927082, PKHD1	Copy number gain	See cases	GLikely benign
Select item 357355	NM_138694.4(PKHD1):c.*3520T>C	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357356	NM_138694.4(PKHD1):c.*3505AATT[1]	PKHD1	Microsatellite (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357357	NM_138694.4(PKHD1):c.*3444G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357358	NM_138694.4(PKHD1):c.*3393C>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GBenign
Select item 911841	NM_138694.4(PKHD1):c.*3379A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357359	NM_138694.4(PKHD1):c.*3345T>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357360	NM_138694.4(PKHD1):c.*3323T>C	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357361	NM_138694.4(PKHD1):c.*3269C>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 908893	NM_138694.4(PKHD1):c.*3171A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 908894	NM_138694.4(PKHD1):c.*3138G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 908895	NM_138694.4(PKHD1):c.*3044A>T	PKHD1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 908896	NM_138694.4(PKHD1):c.*3030A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357362	NM_138694.4(PKHD1):c.*3026A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GBenign
Select item 357363	NM_138694.4(PKHD1):c.*3025C>T	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GBenign
Select item 909758	NM_138694.4(PKHD1):c.*2976C>T	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357364	NM_138694.4(PKHD1):c.*2967T>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357365	NM_138694.4(PKHD1):c.*2922T>C	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357366	NM_138694.4(PKHD1):c.*2857A>C	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 909759	NM_138694.4(PKHD1):c.*2716C>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 909760	NM_138694.4(PKHD1):c.*2666G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 909761	NM_138694.4(PKHD1):c.*2665C>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357367	NM_138694.4(PKHD1):c.*2580C>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357368	NM_138694.4(PKHD1):c.*2564A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GBenign
Select item 357370	NM_138694.4(PKHD1):c.2552_2553dup	PKHD1	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 357369	NM_138694.4(PKHD1):c.*2553dup	PKHD1	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 910670	NM_138694.4(PKHD1):c.*2463C>T	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 910671	NM_138694.4(PKHD1):c.*2443A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357371	NM_138694.4(PKHD1):c.*2331C>T	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 357372	NM_138694.4(PKHD1):c.2304_2305insA	PKHD1	Insertion (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357373	NM_138694.4(PKHD1):c.*2208A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GBenign
Select item 357374	NM_138694.4(PKHD1):c.*2201G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 910672	NM_138694.4(PKHD1):c.*2086A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 357375	NM_138694.4(PKHD1):c.*2082A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 911902	NM_138694.4(PKHD1):c.*2064G>T	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 357376	NM_138694.4(PKHD1):c.*2031A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357377	NM_138694.4(PKHD1):c.*1933G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357378	NM_138694.4(PKHD1):c.*1789G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357379	NM_138694.4(PKHD1):c.*1749C>T	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 911903	NM_138694.4(PKHD1):c.*1637G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 357380	NM_138694.4(PKHD1):c.*1597G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 911904	NM_138694.4(PKHD1):c.*1596C>T	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 908963	NM_138694.4(PKHD1):c.*1592T>C	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357381	NM_138694.4(PKHD1):c.*1589T>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357382	NM_138694.4(PKHD1):c.*1559T>C	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 357383	NM_138694.4(PKHD1):c.*1525G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 357384	NM_138694.4(PKHD1):c.1492_1497del	PKHD1	Deletion (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 908964	NM_138694.4(PKHD1):c.*1450T>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357385	NM_138694.4(PKHD1):c.*1381G>C	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357386	NM_138694.4(PKHD1):c.*1376A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357387	NM_138694.4(PKHD1):c.*1335T>C	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357388	NM_138694.4(PKHD1):c.*1257G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 909834	NM_138694.4(PKHD1):c.*1244G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357389	NM_138694.4(PKHD1):c.*1217G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357390	NM_138694.4(PKHD1):c.*1154A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 909835	NM_138694.4(PKHD1):c.*1130C>T	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357391	NM_138694.4(PKHD1):c.*1083G>T	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 909836	NM_138694.4(PKHD1):c.*1027G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357392	NM_138694.4(PKHD1):c.*1023G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357393	NM_138694.4(PKHD1):c.*1005C>T	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 910731	NM_138694.4(PKHD1):c.*1001A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357394	NM_138694.4(PKHD1):c.*934G>T	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 910732	NM_138694.4(PKHD1):c.*918T>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 910733	NM_138694.4(PKHD1):c.*822G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357395	NM_138694.4(PKHD1):c.*780A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357396	NM_138694.4(PKHD1):c.*760T>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357397	NM_138694.4(PKHD1):c.*636C>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 910734	NM_138694.4(PKHD1):c.*604C>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 357398	NM_138694.4(PKHD1):c.*374T>C	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GBenign
Select item 357399	NM_138694.4(PKHD1):c.*308C>T	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 911951	NM_138694.4(PKHD1):c.*232T>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 357400	NM_138694.4(PKHD1):c.*220A>G	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357401	NM_138694.4(PKHD1):c.*27G>A	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 663953	NC_000006.12:g.(?_51619071)_(51791383_?)del	LOC101927082, PKHD1	Deletion	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 911952	NM_138694.4(PKHD1):c.*1T>C	PKHD1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 498395	NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys)	PKHD1	Single nucleotide variant (stop lost)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 2887423	NM_138694.4(PKHD1):c.12222G>A (p.Leu4074=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 1584620	NM_138694.4(PKHD1):c.12216G>A (p.Glu4072=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 595177	NM_138694.4(PKHD1):c.12213G>A (p.Gln4071=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 2493465	NM_138694.4(PKHD1):c.12208A>C (p.Ile4070Leu)	PKHD1 (I4070L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1121031	NM_138694.4(PKHD1):c.12201G>T (p.Pro4067=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder +1 more	GLikely benign
Select item 500795	NM_138694.4(PKHD1):c.12201G>A (p.Pro4067=)	PKHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550648	NM_138694.4(PKHD1):c.12200C>T (p.Pro4067Leu)	PKHD1 (P4067L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 501329	NM_138694.4(PKHD1):c.12198C>T (p.His4066=)	PKHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1136127	NM_138694.4(PKHD1):c.12195A>G (p.Val4065=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 1528885	NM_138694.4(PKHD1):c.12192A>G (p.Ser4064=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 1612922	NM_138694.4(PKHD1):c.12189T>C (p.His4063=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 1209757	NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg)	PKHD1 (H4063R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1992998	NM_138694.4(PKHD1):c.12183C>T (p.Cys4061=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 1665256	NM_138694.4(PKHD1):c.12180C>T (p.Phe4060=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 1144351	NM_138694.4(PKHD1):c.12174G>A (p.Glu4058=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 2099348	NM_138694.4(PKHD1):c.12168C>T (p.Ala4056=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 555598	NM_138694.4(PKHD1):c.12166del (p.Ala4056fs)	PKHD1 (A4056fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 1138432	NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +1 more	GLikely benign
Select item 596037	NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg)	PKHD1 (G4055R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 704576	NM_138694.4(PKHD1):c.12162C>T (p.Cys4054=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 553964	NM_138694.4(PKHD1):c.12162C>A (p.Cys4054Ter)	PKHD1 (C4054*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease	GUncertain significance

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