"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 496885	NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)	PKHD1 (R3620H)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 290431	NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly)	PKHD1 (D3540G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 167479	NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)	PKHD1 (D3139Y)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 96440	NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)	PKHD1 (A3072V)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +4 more	GConflicting classifications of pathogenicity
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 96431	NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)	PKHD1 (G2782A)	Single nucleotide variant (missense variant)	Caroli disease +4 more	GConflicting classifications of pathogenicity
Select item 96425	NM_138694.4(PKHD1):c.7912-5T>G	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related condition +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 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)	PKHD1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 197049	NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)	PKHD1 (T2082I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 196989	NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)	PKHD1 (Q1923L)	Single nucleotide variant (missense variant)	PKHD1-related condition +3 more	GConflicting classifications of pathogenicity
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 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 1103275	NM_138694.4(PKHD1):c.3183C>T (p.Val1061=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +1 more	GLikely benign
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 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 500971	NM_138694.4(PKHD1):c.1234-9T>C	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 357457	NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)	PKHD1 (R92Q)	Single nucleotide variant (missense variant)	PKHD1-related condition +2 more	GConflicting classifications of pathogenicity