"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PKHD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	not provided +1 more	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 702354	NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 947536	NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys)	PKHD1 (Q4030K)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 705412	NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 1156731	NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 458589	NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +1 more	GLikely benign
Select item 1155064	NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 969420	NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu)	PKHD1 (P3919L)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 597072	NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)	PKHD1 (S3916*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 813370	NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)	PKHD1 (W3871R)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 1523558	NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser)	PKHD1 (P3845S)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 1134960	NM_138694.4(PKHD1):c.11506+14G>C	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +1 more	GLikely benign
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 596650	NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val)	PKHD1 (A3793V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 839985	NM_138694.4(PKHD1):c.11342C>T (p.Ser3781Leu)	PKHD1 (S3781L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 370289	NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)	PKHD1 (R3772*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 1671874	NM_138694.4(PKHD1):c.11311-19C>G	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 1636900	NM_138694.4(PKHD1):c.11310+13A>G	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
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 498746	NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys)	PKHD1 (Y3737C)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 289978	NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr)	PKHD1 (M3708T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 704973	NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 357409	NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala)	PKHD1 (G3667A)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 704979	NM_138694.4(PKHD1):c.10983G>A (p.Val3661=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 406893	NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr)	PKHD1 (I3658T)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GUncertain significance
Select item 501330	NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro)	PKHD1 (H3647P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1009030	NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr)	PKHD1 (H3630Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 929253	NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)	PKHD1 (R3620fs)	Microsatellite (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 1484699	NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg)	PKHD1 (Q3592R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 633356	NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)	PKHD1 (E3582*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GLikely pathogenic
Select item 291149	NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn)	PKHD1 (H3562N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 502327	NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys)	PKHD1 (R3556C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 279874	NM_138694.4(PKHD1):c.10637del (p.Val3546fs)	PKHD1 (V3546fs)	Deletion (frameshift variant)	See cases +3 more	GPathogenic
Select item 1159212	NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +1 more	GLikely benign
Select item 357412	NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser)	PKHD1 (N3528S)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GUncertain significance
Select item 458585	NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro)	PKHD1 (L3519P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 1137101	NM_138694.4(PKHD1):c.10545T>C (p.Ile3515=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 528291	NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro)	PKHD1 (L3494P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 648045	NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser)	PKHD1 (N3488S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 189084	NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)	PKHD1 (L3485fs)	Duplication (frameshift variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 597675	NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu)	PKHD1 (F3484L)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GUncertain significance
Select item 496513	NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val)	PKHD1 (I3462V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GUncertain significance
Select item 1161720	NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 593906	NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr)	PKHD1 (A3418T)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GUncertain significance
Select item 1146784	NM_138694.4(PKHD1):c.10233G>C (p.Val3411=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +1 more	GLikely benign
Select item 198314	NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)	PKHD1 (Q3407*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic
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 1117077	NM_138694.4(PKHD1):c.10152C>T (p.Asn3384=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +1 more	GLikely benign
Select item 500246	NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His)	PKHD1 (N3384H)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 550477	NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)	PKHD1 (T3379fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 1472582	NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro)	PKHD1 (S3369P)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 553129	NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs)	PKHD1 (G3363fs)	Indel (frameshift variant)	Polycystic kidney disease 4 +1 more	GLikely pathogenic
Select item 198306	NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)	PKHD1 (C3346R)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 96365	NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)	PKHD1 (L3344*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 655821	NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg)	PKHD1 (P3308R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 370453	NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter)	PKHD1 (E3301*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 289330	NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn)	PKHD1 (D3290N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1068071	NM_138694.4(PKHD1):c.9830-2A>G	PKHD1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 572902	NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)	PKHD1 (R3240Q)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 96444	NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)	PKHD1 (D3230fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic
Select item 593890	NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)	PKHD1 (P3221L)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 377018	NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)	PKHD1 (I3177T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 357419	NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys)	PKHD1 (N3090K)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 501331	NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)	PKHD1 (I3081V)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1147500	NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +2 more	GLikely benign
Select item 500858	NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu)	PKHD1 (V3036L)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 1313861	NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp)	PKHD1 (A3032D)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 1321341	NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=)	PKHD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1620903	NM_138694.4(PKHD1):c.8951-19G>A	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +1 more	GLikely benign
Select item 555753	NM_138694.4(PKHD1):c.8950+1G>T	PKHD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 4 +1 more	GLikely pathogenic
Select item 1125498	NM_138694.4(PKHD1):c.8898G>A (p.Arg2966=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 357421	NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile)	PKHD1 (V2963I)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GUncertain significance
Select item 357423	NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)	PKHD1 (I2957T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 662555	NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser)	PKHD1 (L2946S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 908046	NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val)	PKHD1 (I2944V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GUncertain significance
Select item 594500	NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met)	PKHD1 (T2938M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1654678	NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 596243	NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp)	PKHD1 (R2926W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1035671	NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu)	PKHD1 (K2895E)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 1100686	NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +1 more	GLikely benign
Select item 813375	NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)	PKHD1 (S2877fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 429814	NM_138694.4(PKHD1):c.8555-2A>C	PKHD1	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1349138	NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly)	PKHD1 (R2840G)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GLikely pathogenic
Select item 1210457	NM_138694.4(PKHD1):c.8382C>G (p.Asp2794Glu)	PKHD1 (D2794E)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GUncertain significance
Select item 859139	NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val)	PKHD1 (M2786V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 988201	NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys)	PKHD1 (Y2784C)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 999908	NM_138694.4(PKHD1):c.8319G>A (p.Val2773=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 528299	NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)	PKHD1 (V2773L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1562203	NM_138694.4(PKHD1):c.8292C>T (p.Leu2764=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 704323	NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 591173	NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala)	PKHD1 (G2748A)	Indel (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 804346	NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)	PKHD1 (E2747*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +1 more	GLikely pathogenic
Select item 1391134	NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter)	PKHD1 (W2736*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic
Select item 496527	NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)	PKHD1 (W2736G)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 167482	NM_138694.4(PKHD1):c.8174-18T>A	PKHD1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1551554	NM_138694.4(PKHD1):c.8174-19A>T	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +1 more	GLikely benign
Select item 357426	NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr)	PKHD1 (M2719T)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance

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