"Blueprint Genetics"[submitter] AND "PKHD1"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636915	NM_138694.4(PKHD1):c.11175-12T>C	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 636706	NM_138694.4(PKHD1):c.10658T>A (p.Ile3553Asn)	PKHD1 (I3553N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 4115	NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly)	PKHD1 (V3471G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 636949	NM_138694.4(PKHD1):c.10145del (p.Phe3382fs)	PKHD1 (F3382fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 557530	NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)	PKHD1 (L3353R)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 593281	NM_138694.4(PKHD1):c.9154G>T (p.Asp3052Tyr)	PKHD1 (D3052Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 636941	NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)	PKHD1 (R2840C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 499806	NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)	PKHD1 (R2573C)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 197602	NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)	PKHD1 (V2559L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 636514	NM_138694.4(PKHD1):c.7109+3A>C	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +1 more	GLikely pathogenic
Select item 188813	NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	PKHD1 (I2331K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 636344	NM_138694.4(PKHD1):c.6948G>A (p.Met2316Ile)	PKHD1 (M2316I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636916	NM_138694.4(PKHD1):c.6872C>T (p.Ser2291Leu)	PKHD1 (S2291L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636696	NM_138694.4(PKHD1):c.5944G>A (p.Glu1982Lys)	PKHD1 (E1982K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377269	NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)	PKHD1 (G1971D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 196989	NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)	PKHD1 (Q1923L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 636836	NM_138694.4(PKHD1):c.5405T>C (p.Leu1802Pro)	PKHD1 (L1802P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 557612	NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp)	LOC126859690, PKHD1 (G1697D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636682	NM_138694.4(PKHD1):c.4855G>T (p.Gly1619Cys)	LOC126859690, PKHD1 (G1619C)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 636629	NM_138694.4(PKHD1):c.4439T>A (p.Ile1480Lys)	PKHD1 (I1480K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636695	NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter)	PKHD1 (Q1444*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 636609	NM_138694.4(PKHD1):c.3958_3959del (p.Gly1320fs)	PKHD1 (G1320fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 371441	NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)	PKHD1 (S1314fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 636692	NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu)	PKHD1 (G1180E)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GLikely pathogenic
Select item 636983	NM_138694.4(PKHD1):c.3529T>C (p.Ser1177Pro)	PKHD1 (S1177P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636580	NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)	PKHD1 (S1156L)	Single nucleotide variant (missense variant)	PKHD1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 196145	NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp)	PKHD1 (G1041D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 595985	NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val)	PKHD1 (A1030V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 636948	NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)	PKHD1 (F955C)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 196052	NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)	PKHD1 (G952R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 632491	NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)	PKHD1 (V836A)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 596463	NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg)	PKHD1 (Q815R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 96387	NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)	PKHD1 (R781*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 636996	NM_138694.4(PKHD1):c.2279+5G>A	PKHD1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
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 4114	NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)	PKHD1 (R496*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +2 more	GPathogenic
Select item 636669	NM_138694.4(PKHD1):c.1463G>C (p.Arg488Pro)	PKHD1 (R488P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636480	NM_138694.4(PKHD1):c.1378G>A (p.Gly460Arg)	PKHD1 (G460R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636670	NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)	PKHD1 (F372L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 636879	NM_138694.4(PKHD1):c.778+1G>C	PKHD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 4 +2 more	GLikely pathogenic
Select item 406891	NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	PKHD1 (I222V)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 636402	NM_138694.4(PKHD1):c.446C>T (p.Pro149Leu)	PKHD1 (P149L)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 632942	NM_138694.4(PKHD1):c.390+1G>T	PKHD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 4 +2 more	GPathogenic/Likely pathogenic
Select item 4108	NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	PKHD1 (T36M)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +7 more	GPathogenic/Likely pathogenic
Select item 96435	NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)	PKHD1 (E29*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 45