"Illumina Laboratory Services, Illumina"[submitter] AND "PKHD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Autosomal recessive polycystic kidney disease	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)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 357369	NM_138694.4(PKHD1):c.*2553dup	PKHD1	Duplication (3 prime UTR variant)	Autosomal recessive polycystic kidney disease	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	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	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)	Autosomal recessive polycystic kidney disease	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	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)	Autosomal recessive polycystic kidney disease	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 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 911953	NM_138694.4(PKHD1):c.12155C>T (p.Ala4052Val)	PKHD1 (A4052V)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 96376	NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)	PKHD1 (Q4048R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 631985	NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter)	PKHD1 (Q4048*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 216821	NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)	PKHD1 (L4037P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 357402	NM_138694.4(PKHD1):c.12038G>A (p.Gly4013Asp)	PKHD1 (G4013D)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 198368	NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)	PKHD1 (Y4009*)	Single nucleotide variant (nonsense)	PKHD1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 909025	NM_138694.4(PKHD1):c.11901G>A (p.Val3967=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GConflicting classifications of pathogenicity
Select item 357403	NM_138694.4(PKHD1):c.11885A>G (p.Glu3962Gly)	PKHD1 (E3962G)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 96375	NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile)	PKHD1 (V3960I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 289543	NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)	PKHD1 (V3934I)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 241840	NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His)	PKHD1 (R3913H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 909885	NM_138694.4(PKHD1):c.11716C>T (p.His3906Tyr)	PKHD1 (H3906Y)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 96373	NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn)	PKHD1 (I3905N)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GBenign
Select item 96372	NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg)	PKHD1 (Q3899R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 96371	NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)	PKHD1 (R3842L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 96370	NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile)	PKHD1 (V3837I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 357404	NM_138694.4(PKHD1):c.11507-5C>T	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 910789	NM_138694.4(PKHD1):c.11507-8C>T	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 496514	NM_138694.4(PKHD1):c.11507-11C>T	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 357405	NM_138694.4(PKHD1):c.11507-12del	PKHD1	Deletion (intron variant)	Autosomal recessive polycystic kidney disease	GConflicting classifications of pathogenicity
Select item 910790	NM_138694.4(PKHD1):c.11477A>G (p.His3826Arg)	PKHD1 (H3826R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 357406	NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn)	PKHD1 (H3826N)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GUncertain significance
Select item 262384	NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=)	PKHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 216820	NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)	PKHD1 (P3780S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 357407	NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly)	PKHD1 (V3760G)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 414168	NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)	PKHD1 (A3742T)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 96369	NM_138694.4(PKHD1):c.11174+11A>G	PKHD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign

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