"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96375	NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile)	PKHD1 (V3960I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
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 96371	NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)	PKHD1 (R3842L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 262384	NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=)	PKHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 216820	NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)	PKHD1 (P3780S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 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 167474	NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)	PKHD1 (S3505R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely 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 220094	NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)	PKHD1 (V3193I)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GBenign/Likely benign
Select item 167479	NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)	PKHD1 (D3139Y)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 198015	NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)	PKHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 96440	NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)	PKHD1 (A3072V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 215542	NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)	PKHD1 (S2861G)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 96431	NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)	PKHD1 (G2782A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1210016	NM_138694.4(PKHD1):c.8302+2T>C	PKHD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 4	GPathogenic/Likely pathogenic
Select item 96425	NM_138694.4(PKHD1):c.7912-5T>G	PKHD1	Single nucleotide variant (intron variant)	not provided +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 +4 more	GConflicting classifications of pathogenicity
Select item 197475	NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)	PKHD1 (G2285E)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 96414	NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +3 more	GBenign
Select item 496898	NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)	PKHD1 (S1833L)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 289814	NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)	PKHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 96405	NM_138694.4(PKHD1):c.5236+14A>G	LOC126859690, PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +3 more	GBenign
Select item 196805	NM_138694.4(PKHD1):c.4920A>G (p.Val1640=)	LOC126859690, PKHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 598091	NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)	PKHD1, LOC126859690 (T1615M)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GBenign/Likely benign
Select item 262400	NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 96396	NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 167489	NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)	PKHD1 (Y1136C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 241843	NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 96391	NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)	PKHD1 (N830S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 96387	NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)	PKHD1 (R781*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4 +2 more	GPathogenic
Select item 262392	NM_138694.4(PKHD1):c.1950G>A (p.Arg650=)	PKHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 96381	NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)	PKHD1 (T579M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 500971	NM_138694.4(PKHD1):c.1234-9T>C	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 1206384	NM_138694.4(PKHD1):c.779-25dup	PKHD1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 4108	NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	PKHD1 (T36M)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +7 more	GPathogenic/Likely pathogenic

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Items: 35