"PreventionGenetics, part of Exact Sciences"[submitter] AND "PKHD1"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 501329	NM_138694.4(PKHD1):c.12198C>T (p.His4066=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 743496	NM_138694.4(PKHD1):c.12159C>T (p.Ser4053=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 595548	NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=)	PKHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1206452	NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)	PKHD1 (Q4048*)	Inversion (nonsense)	not provided +3 more	GUncertain significance
Select item 96376	NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)	PKHD1 (Q4048R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 216821	NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)	PKHD1 (L4037P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 705412	NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +2 more	GLikely benign
Select item 3054880	NM_138694.4(PKHD1):c.12054G>A (p.Leu4018=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder	GLikely benign
Select item 198368	NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)	PKHD1 (Y4009*)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 699154	NM_138694.4(PKHD1):c.12021C>G (p.Leu4007=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder +1 more	GLikely benign
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 287519	NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder +2 more	GConflicting classifications of pathogenicity
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 497774	NM_138694.4(PKHD1):c.11789T>A (p.Met3930Lys)	PKHD1 (M3930K)	Single nucleotide variant (missense variant)	PKHD1-related disorder +1 more	GUncertain significance
Select item 262386	NM_138694.4(PKHD1):c.11786-30C>T	PKHD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 597072	NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)	PKHD1 (S3916*)	Single nucleotide variant (nonsense)	PKHD1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 554930	NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)	PKHD1 (R3914*)	Single nucleotide variant (nonsense)	PKHD1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1327729	NM_138694.4(PKHD1):c.11737C>T (p.Arg3913Cys)	PKHD1 (R3913C)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 2636385	NM_138694.4(PKHD1):c.11717A>G (p.His3906Arg)	PKHD1 (H3906R)	Single nucleotide variant (missense variant)	PKHD1-related disorder	GUncertain significance
Select item 96373	NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn)	PKHD1 (I3905N)	Single nucleotide variant (missense variant)	not specified +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 501609	NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 2787648	NM_138694.4(PKHD1):c.11595G>A (p.Leu3865=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder +1 more	GLikely benign
Select item 3056108	NM_138694.4(PKHD1):c.11540C>T (p.Ala3847Val)	PKHD1 (A3847V)	Single nucleotide variant (missense variant)	PKHD1-related disorder	GUncertain significance
Select item 96371	NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)	PKHD1 (R3842L)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GBenign
Select item 96370	NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile)	PKHD1 (V3837I)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GBenign
Select item 910789	NM_138694.4(PKHD1):c.11507-8C>T	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 262385	NM_138694.4(PKHD1):c.11507-21A>G	PKHD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1134334	NM_138694.4(PKHD1):c.11506+7T>G	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related disorder +1 more	GLikely benign
Select item 3052090	NM_138694.4(PKHD1):c.11484T>G (p.Ile3828Met)	PKHD1 (I3828M)	Single nucleotide variant (missense variant)	PKHD1-related disorder	GUncertain significance
Select item 596650	NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val)	PKHD1 (A3793V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 262384	NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +2 more	GBenign/Likely benign
Select item 216820	NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)	PKHD1 (P3780S)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 699508	NM_138694.4(PKHD1):c.11318G>T (p.Arg3773Ile)	PKHD1 (R3773I)	Single nucleotide variant (missense variant)	PKHD1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1642882	NM_138694.4(PKHD1):c.11311-8A>G	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related disorder +1 more	GLikely benign
Select item 3061623	NM_138694.4(PKHD1):c.11310+5C>T	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related disorder	GLikely benign
Select item 1521234	NM_138694.4(PKHD1):c.11310+1G>C	PKHD1	Single nucleotide variant (splice donor variant)	PKHD1-related disorder +2 more	GPathogenic/Likely pathogenic
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)	Autosomal recessive polycystic kidney disease +2 more	GBenign/Likely benign
Select item 2630309	NM_138694.4(PKHD1):c.11092C>A (p.Gln3698Lys)	PKHD1 (Q3698K)	Single nucleotide variant (missense variant)	PKHD1-related disorder	GUncertain significance
Select item 497601	NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr)	PKHD1 (D3668Y)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 704979	NM_138694.4(PKHD1):c.10983G>A (p.Val3661=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder +2 more	GLikely benign
Select item 406893	NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr)	PKHD1 (I3658T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2065726	NM_138694.4(PKHD1):c.10957A>G (p.Met3653Val)	PKHD1 (M3653V)	Single nucleotide variant (missense variant)	PKHD1-related disorder +1 more	GUncertain significance
Select item 167473	NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)	PKHD1 (M3642I)	Single nucleotide variant (missense variant)	PKHD1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 96368	NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys)	PKHD1 (R3637C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3044751	NM_138694.4(PKHD1):c.10907A>T (p.Gln3636Leu)	PKHD1 (Q3636L)	Single nucleotide variant (missense variant)	PKHD1-related disorder	GUncertain significance
Select item 501691	NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 909087	NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile)	PKHD1 (T3628I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3051091	NM_138694.4(PKHD1):c.10869T>A (p.Pro3623=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder	GLikely benign
Select item 496885	NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)	PKHD1 (R3620H)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 3032295	NM_138694.4(PKHD1):c.10789T>C (p.Phe3597Leu)	PKHD1 (F3597L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 262383	NM_138694.4(PKHD1):c.10746A>G (p.Glu3582=)	PKHD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2593090	NM_138694.4(PKHD1):c.10681A>G (p.Ile3561Val)	PKHD1 (I3561V)	Single nucleotide variant (missense variant)	PKHD1-related disorder +1 more	GUncertain significance
Select item 4113	NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)	PKHD1 (I3553T)	Single nucleotide variant (missense variant)	PKHD1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 96367	NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)	PKHD1 (E3529Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 598351	NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg)	PKHD1 (G3511R)	Single nucleotide variant (missense variant)	PKHD1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3030211	NM_138694.4(PKHD1):c.10528T>C (p.Leu3510=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder	GLikely benign
Select item 96366	NM_138694.4(PKHD1):c.10521C>T (p.His3507=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +3 more	GBenign
Select item 167474	NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)	PKHD1 (S3505R)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GBenign/Likely benign
Select item 3036319	NM_138694.4(PKHD1):c.10499A>G (p.Tyr3500Cys)	PKHD1 (Y3500C)	Single nucleotide variant (missense variant)	PKHD1-related disorder	GUncertain significance
Select item 188896	NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)	PKHD1 (R3482C)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GPathogenic/Likely pathogenic
Select item 1138596	NM_138694.4(PKHD1):c.10413C>G (p.Val3471=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder +1 more	GLikely benign
Select item 498158	NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)	PKHD1 (T3452A)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 1545277	NM_138694.4(PKHD1):c.10350C>T (p.Cys3450=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder +1 more	GLikely benign
Select item 262382	NM_138694.4(PKHD1):c.10331T>C (p.Val3444Ala)	PKHD1 (V3444A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3029648	NM_138694.4(PKHD1):c.10324A>G (p.Ser3442Gly)	PKHD1 (S3442G)	Single nucleotide variant (missense variant)	PKHD1-related disorder	GUncertain significance
Select item 2637235	NM_138694.4(PKHD1):c.10316_10318del (p.Asp3439del)	PKHD1 (D3439del)	Deletion (inframe_deletion)	PKHD1-related disorder	GUncertain significance
Select item 1097135	NM_138694.4(PKHD1):c.10302T>G (p.Thr3434=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder +1 more	GLikely benign
Select item 1146784	NM_138694.4(PKHD1):c.10233G>C (p.Val3411=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +2 more	GLikely benign
Select item 592250	NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)	PKHD1 (I3404V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 488579	NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)	PKHD1 (Q3392*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +3 more	GPathogenic
Select item 731812	NM_138694.4(PKHD1):c.10157-9_10157-5del	PKHD1	Microsatellite (intron variant)	PKHD1-related disorder +1 more	GLikely benign
Select item 3032241	NM_138694.4(PKHD1):c.10156+22359C>T	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related disorder	GLikely benign
Select item 371184	NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)	PKHD1 (F3371fs)	Duplication (frameshift variant)	PKHD1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 262425	NM_138694.4(PKHD1):c.9998+49A>G	PKHD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 167475	NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)	PKHD1 (S3289I)	Single nucleotide variant (missense variant)	PKHD1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1648557	NM_138694.4(PKHD1):c.9837C>T (p.Thr3279=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder +1 more	GLikely benign
Select item 167476	NM_138694.4(PKHD1):c.9829+10T>G	PKHD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 2150380	NM_138694.4(PKHD1):c.9820A>G (p.Lys3274Glu)	PKHD1 (K3274E)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GUncertain significance
Select item 167477	NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)	PKHD1 (V3263A)	Single nucleotide variant (missense variant)	PKHD1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2126152	NM_138694.4(PKHD1):c.9780G>A (p.Trp3260Ter)	PKHD1 (W3260*)	Single nucleotide variant (nonsense)	PKHD1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 167478	NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu)	PKHD1 (R3240L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 96444	NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)	PKHD1 (D3230fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +3 more	GPathogenic
Select item 596189	NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 220094	NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)	PKHD1 (V3193I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 374478	NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=)	PKHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 458608	NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)	PKHD1 (V3185I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 377018	NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)	PKHD1 (I3177T)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 2628771	NM_138694.4(PKHD1):c.9526A>G (p.Thr3176Ala)	PKHD1 (T3176A)	Single nucleotide variant (missense variant)	PKHD1-related disorder	GUncertain significance
Select item 357417	NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)	PKHD1 (V3165M)	Single nucleotide variant (missense variant)	PKHD1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 285245	NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)	PKHD1 (H3160Y)	Single nucleotide variant (missense variant)	PKHD1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1456801	NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly)	PKHD1 (D3154G)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 167479	NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)	PKHD1 (D3139Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 592272	NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)	PKHD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 598074	NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)	PKHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2571802	NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)	PKHD1 (G3103D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 96441	NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 96440	NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)	PKHD1 (A3072V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

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