C0085548[trait identifier] AND "Diagnostic Laboratory, Department of G - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262384	NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease +2 more	GBenign/Likely benign
Select item 96438	NM_138694.4(PKHD1):c.8798-19A>C	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +2 more	GBenign
Select item 96431	NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)	PKHD1 (G2782A)	Single nucleotide variant (missense variant)	not specified +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)	not provided +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 196989	NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)	PKHD1 (Q1923L)	Single nucleotide variant (missense variant)	not provided +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 provided +4 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 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 374479	NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)	PKHD1 (G448R)	Single nucleotide variant (missense variant)	PKHD1-related disorder +2 more	GConflicting classifications of pathogenicity
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 96397	NM_138694.4(PKHD1):c.353del (p.Ser118fs)	PKHD1 (S118fs)	Deletion (frameshift 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 +8 more	GPathogenic/Likely pathogenic