C4540575[trait identifier] AND "Pars Genome Lab"[submitter] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96376	NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)	PKHD1 (Q4048R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 262386	NM_138694.4(PKHD1):c.11786-30C>T	PKHD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 96372	NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg)	PKHD1 (Q3899R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 96366	NM_138694.4(PKHD1):c.10521C>T (p.His3507=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 1175340	NM_138694.4(PKHD1):c.10156+22412C>T	PKHD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
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 262425	NM_138694.4(PKHD1):c.9998+49A>G	PKHD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 357415	NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)	PKHD1 (N3235K)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GConflicting classifications of pathogenicity
Select item 357418	NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +3 more	GConflicting classifications of pathogenicity
Select item 96441	NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +3 more	GBenign
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 594333	NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)	PKHD1 (V3036G)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
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 1175341	NM_138694.4(PKHD1):c.8643-72C>T	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262421	NM_138694.4(PKHD1):c.8441-32G>C	PKHD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1175342	NM_138694.4(PKHD1):c.8441-68T>C	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175343	NM_138694.4(PKHD1):c.8303-65C>A	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175311	NM_138694.4(PKHD1):c.8302+89A>T	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +1 more	GBenign
Select item 96429	NM_138694.4(PKHD1):c.8302+12T>A	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 1175312	NM_138694.4(PKHD1):c.8173+144G>A	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +1 more	GBenign
Select item 1175313	NM_138694.4(PKHD1):c.8173+101A>T	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +1 more	GBenign/Likely benign
Select item 1175314	NM_138694.4(PKHD1):c.8108-64G>A	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +1 more	GBenign/Likely benign
Select item 1175315	NM_138694.4(PKHD1):c.8108-217C>T	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +1 more	GBenign
Select item 96423	NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 96422	NM_138694.4(PKHD1):c.7734-4T>C	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 1175316	NM_138694.4(PKHD1):c.7733+63C>T	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +1 more	GBenign
Select item 262412	NM_138694.4(PKHD1):c.7733+33C>T	PKHD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 96421	NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 262411	NM_138694.4(PKHD1):c.7486+41C>A	PKHD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1175317	NM_138694.4(PKHD1):c.7215+102T>A	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +1 more	GBenign
Select item 1175318	NM_138694.4(PKHD1):c.6490+62A>G	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +1 more	GBenign/Likely benign
Select item 262406	NM_138694.4(PKHD1):c.5909-46A>G	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +2 more	GBenign
Select item 96414	NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 96410	NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val)	PKHD1 (L1870V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 96405	NM_138694.4(PKHD1):c.5236+14A>G	LOC126859690, PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 96399	NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val)	PKHD1 (A1262V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 262399	NM_138694.4(PKHD1):c.3629-32A>G	PKHD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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)	not provided +3 more	GBenign
Select item 262396	NM_138694.4(PKHD1):c.2407+50C>T	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +2 more	GBenign
Select item 1175327	NM_138694.4(PKHD1):c.2279+57A>G	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 96386	NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys)	PKHD1 (R760C)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 96384	NM_138694.4(PKHD1):c.2046A>C (p.Pro682=)	PKHD1	Single nucleotide variant (synonymous 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 provided +3 more	GBenign/Likely benign
Select item 262390	NM_138694.4(PKHD1):c.1694-32C>G	PKHD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 96378	NM_138694.4(PKHD1):c.1587T>C (p.Asn529=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 96377	NM_138694.4(PKHD1):c.1234-10T>A	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 96374	NM_138694.4(PKHD1):c.1185T>C (p.Asp395=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 1175328	NM_138694.4(PKHD1):c.707+143A>C	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175329	NM_138694.4(PKHD1):c.667+57G>A	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175333	NM_138694.4(PKHD1):c.602+67A>G	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175334	NM_138694.4(PKHD1):c.527+51G>T	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 96407	NM_138694.4(PKHD1):c.527+19T>C	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 1175335	NM_138694.4(PKHD1):c.282-41A>G	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 96388	NM_138694.4(PKHD1):c.234C>T (p.Asp78=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 96385	NM_138694.4(PKHD1):c.214C>T (p.Leu72=)	PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +3 more	GBenign
Select item 1175336	NM_138694.4(PKHD1):c.-84-47T>C	PKHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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Items: 57