C0085548[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96367	NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)	PKHD1 (E3529Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 198306	NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)	PKHD1 (C3346R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GUncertain significance
Select item 96436	NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)	PKHD1 (T2869K)	Single nucleotide variant (missense variant)	Caroli disease +3 more	GBenign/Likely benign
Select item 215542	NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)	PKHD1 (S2861G)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 96426	NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)	PKHD1 (T2641A)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GBenign/Likely benign
Select item 188369	NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	LOC126859690, PKHD1 (R1624W)	Single nucleotide variant (missense variant)	PKHD1-related condition +5 more	GPathogenic/Likely pathogenic
Select item 96391	NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)	PKHD1 (N830S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 290977	NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)	PKHD1 (I757L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 96381	NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)	PKHD1 (T579M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign