"Genome-Nilou Lab"[submitter] AND "PKHD1"[gene] - ClinVar

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Items: 67

	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 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 1209694	NM_138694.4(PKHD1):c.11920G>A (p.Gly3974Ser)	PKHD1 (G3974S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 96372	NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg)	PKHD1 (Q3899R)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GBenign
Select item 1209758	NM_138694.4(PKHD1):c.11037A>T (p.Ser3679=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 287505	NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)	PKHD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 1209762	NM_138694.4(PKHD1):c.10160C>T (p.Thr3387Ile)	PKHD1 (T3387I)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 1175354	NM_138694.4(PKHD1):c.9998+175T>C	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 167475	NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)	PKHD1 (S3289I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1209696	NM_138694.4(PKHD1):c.9739G>C (p.Val3247Leu)	PKHD1 (V3247L)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 357415	NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)	PKHD1 (N3235K)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 550173	NM_138694.4(PKHD1):c.9524A>G (p.Asn3175Ser)	PKHD1 (N3175S)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GUncertain significance
Select item 167479	NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)	PKHD1 (D3139Y)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 357418	NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)	PKHD1	Single nucleotide variant (synonymous 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)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 96441	NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=)	PKHD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 645696	NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile)	PKHD1 (V2950I)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GUncertain significance
Select item 96438	NM_138694.4(PKHD1):c.8798-19A>C	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +2 more	GBenign
Select item 262421	NM_138694.4(PKHD1):c.8441-32G>C	PKHD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 96429	NM_138694.4(PKHD1):c.8302+12T>A	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +3 more	GBenign
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 1209754	NM_138694.4(PKHD1):c.7946A>T (p.Asn2649Ile)	PKHD1 (N2649I)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 1209760	NM_138694.4(PKHD1):c.7940C>T (p.Pro2647Leu)	PKHD1 (P2647L)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 96423	NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +3 more	GBenign
Select item 96422	NM_138694.4(PKHD1):c.7734-4T>C	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +3 more	GBenign
Select item 262412	NM_138694.4(PKHD1):c.7733+33C>T	PKHD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 371193	NM_138694.4(PKHD1):c.7713del (p.His2572fs)	PKHD1 (H2572fs)	Deletion (frameshift variant)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 96421	NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +3 more	GBenign
Select item 1209759	NM_138694.4(PKHD1):c.7514T>G (p.Leu2505Trp)	PKHD1 (L2505W)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 1209763	NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr)	PKHD1 (C2454Y)	Single nucleotide variant (missense variant)	PKHD1-related disorder +2 more	GUncertain significance
Select item 1209756	NM_138694.4(PKHD1):c.7012G>C (p.Gly2338Arg)	PKHD1 (G2338R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 549940	NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser)	PKHD1 (G2041S)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GUncertain significance
Select item 262406	NM_138694.4(PKHD1):c.5909-46A>G	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +2 more	GBenign
Select item 1209693	NM_138694.4(PKHD1):c.5786C>G (p.Ser1929Cys)	PKHD1 (S1929C)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 96410	NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val)	PKHD1 (L1870V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 595647	NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 286651	NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)	LOC126859690, PKHD1 (G1712R)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 357437	NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)	LOC126859690, PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 598212	NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)	PKHD1 (P1516L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 96402	NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)	PKHD1 (S1435T)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 1209695	NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe)	PKHD1 (L1425F)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 594301	NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro)	PKHD1 (A1273P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GUncertain significance
Select item 96399	NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val)	PKHD1 (A1262V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 188746	NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)	PKHD1 (Q1256fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 1209755	NM_138694.4(PKHD1):c.3707C>T (p.Ser1236Phe)	PKHD1 (S1236F)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 262399	NM_138694.4(PKHD1):c.3629-32A>G	PKHD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 167489	NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)	PKHD1 (Y1136C)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +4 more	GConflicting classifications of pathogenicity
Select item 1210460	NM_138694.4(PKHD1):c.3259G>A (p.Val1087Met)	PKHD1 (V1087M)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 96394	NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 1210456	NM_138694.4(PKHD1):c.2664del (p.Gly890fs)	PKHD1 (G890fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 96386	NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys)	PKHD1 (R760C)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GBenign
Select item 284051	NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 498428	NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)	PKHD1 (R723L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 284549	NM_138694.4(PKHD1):c.1576A>G (p.Ile526Val)	PKHD1 (I526V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GUncertain significance
Select item 1209761	NM_138694.4(PKHD1):c.1303G>C (p.Gly435Arg)	PKHD1 (G435R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 96377	NM_138694.4(PKHD1):c.1234-10T>A	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +3 more	GBenign
Select item 1210458	NM_138694.4(PKHD1):c.1218G>T (p.Glu406Asp)	PKHD1 (E406D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 96374	NM_138694.4(PKHD1):c.1185T>C (p.Asp395=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +3 more	GBenign
Select item 96445	NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)	PKHD1 (R328*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 499351	NM_138694.4(PKHD1):c.881-1G>A	PKHD1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1206384	NM_138694.4(PKHD1):c.779-25dup	PKHD1	Duplication (intron variant)	Polycystic kidney disease 4 +1 more	GBenign
Select item 1210459	NM_138694.4(PKHD1):c.674A>G (p.Gln225Arg)	PKHD1 (Q225R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 96416	NM_138694.4(PKHD1):c.633G>A (p.Gly211=)	PKHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1175335	NM_138694.4(PKHD1):c.282-41A>G	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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Items: 67