ClinVar for Gene (Select 5314) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068657	NM_138694.4(PKHD1):c.11151_11154del (p.Ser3718fs)	PKHD1 (S3718fs)	Deletion (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 3068141	NM_138694.4(PKHD1):c.10462A>T (p.Asn3488Tyr)	PKHD1 (N3488Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 3066380	NM_138694.4(PKHD1):c.926G>C (p.Cys309Ser)	PKHD1 (C309S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 3063897	NM_138694.4(PKHD1):c.5538C>A (p.Cys1846Ter)	PKHD1 (C1846*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease	GPathogenic
Select item 3061858	NM_138694.4(PKHD1):c.1284G>A (p.Trp428Ter)	PKHD1 (W428*)	Single nucleotide variant (nonsense)	Polycystic kidney disease 4	GPathogenic
Select item 3061623	NM_138694.4(PKHD1):c.11310+5C>T	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related condition	GLikely benign
Select item 3061453	NM_138694.4(PKHD1):c.4678G>T (p.Ala1560Ser)	LOC126859690, PKHD1 (A1560S)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3061360	NM_138694.4(PKHD1):c.284C>T (p.Ser95Phe)	PKHD1 (S95F)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3061329	NM_138694.4(PKHD1):c.8321A>C (p.Asp2774Ala)	PKHD1 (D2774A)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3061327	NM_138694.4(PKHD1):c.264G>A (p.Val88=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related condition	GLikely benign
Select item 3061302	NM_138694.4(PKHD1):c.8476C>T (p.Leu2826Phe)	PKHD1 (L2826F)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3061095	NM_138694.4(PKHD1):c.2927C>T (p.Ser976Leu)	PKHD1 (S976L)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3061039	NM_138694.4(PKHD1):c.716T>C (p.Val239Ala)	PKHD1 (V239A)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3056108	NM_138694.4(PKHD1):c.11540C>T (p.Ala3847Val)	PKHD1 (A3847V)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3054880	NM_138694.4(PKHD1):c.12054G>A (p.Leu4018=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related condition	GLikely benign
Select item 3054267	NM_138694.4(PKHD1):c.6490+4G>A	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related condition	GLikely benign
Select item 3053705	NM_138694.4(PKHD1):c.6333-5T>A	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related condition	GLikely benign
Select item 3053004	NM_138694.4(PKHD1):c.1081C>T (p.Pro361Ser)	PKHD1 (P361S)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3052090	NM_138694.4(PKHD1):c.11484T>G (p.Ile3828Met)	PKHD1 (I3828M)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3051324	NM_138694.4(PKHD1):c.976+8A>G	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related condition	GLikely benign
Select item 3051091	NM_138694.4(PKHD1):c.10869T>A (p.Pro3623=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related condition	GLikely benign
Select item 3050008	NM_138694.4(PKHD1):c.5036G>A (p.Gly1679Glu)	LOC126859690, PKHD1 (G1679E)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3049834	NM_138694.4(PKHD1):c.8555-9T>C	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related condition	GLikely benign
Select item 3047966	NM_138694.4(PKHD1):c.-17T>C	PKHD1	Single nucleotide variant (5 prime UTR variant)	PKHD1-related condition	GLikely benign
Select item 3046617	NM_138694.4(PKHD1):c.6809-9T>G	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related condition	GUncertain significance
Select item 3045742	NM_138694.4(PKHD1):c.7737G>T (p.Ala2579=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related condition	GLikely benign
Select item 3044751	NM_138694.4(PKHD1):c.10907A>T (p.Gln3636Leu)	PKHD1 (Q3636L)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3043787	NM_138694.4(PKHD1):c.813T>C (p.Leu271=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related condition	GLikely benign
Select item 3040317	NM_138694.4(PKHD1):c.2432A>G (p.His811Arg)	PKHD1 (H811R)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3036319	NM_138694.4(PKHD1):c.10499A>G (p.Tyr3500Cys)	PKHD1 (Y3500C)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3035898	NM_138694.4(PKHD1):c.7275del (p.Phe2425fs)	PKHD1 (F2425fs)	Deletion (frameshift variant)	PKHD1-related condition	GPathogenic
Select item 3033671	NM_138694.4(PKHD1):c.52+10A>G	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related condition	GUncertain significance
Select item 3033257	NM_138694.4(PKHD1):c.2279+6G>A	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related condition	GLikely benign
Select item 3032385	NM_138694.4(PKHD1):c.666C>T (p.Ile222=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related condition	GLikely benign
Select item 3032302	NM_138694.4(PKHD1):c.7479A>G (p.Gln2493=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related condition	GLikely benign
Select item 3032295	NM_138694.4(PKHD1):c.10789T>C (p.Phe3597Leu)	PKHD1 (F3597L)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3032241	NM_138694.4(PKHD1):c.10156+22359C>T	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related condition	GLikely benign
Select item 3031510	NM_138694.4(PKHD1):c.8798-468C>T	PKHD1	Single nucleotide variant (intron variant)	PKHD1-related condition	GLikely benign
Select item 3031284	NM_138694.4(PKHD1):c.6659T>A (p.Leu2220His)	PKHD1 (L2220H)	Single nucleotide variant (missense variant)	PKHD1-related condition	GLikely pathogenic
Select item 3030211	NM_138694.4(PKHD1):c.10528T>C (p.Leu3510=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related condition	GLikely benign
Select item 3029870	NM_138694.4(PKHD1):c.6628G>C (p.Gly2210Arg)	PKHD1 (G2210R)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3029855	NM_138694.4(PKHD1):c.6704C>A (p.Thr2235Lys)	PKHD1 (T2235K)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3029648	NM_138694.4(PKHD1):c.10324A>G (p.Ser3442Gly)	PKHD1 (S3442G)	Single nucleotide variant (missense variant)	PKHD1-related condition	GUncertain significance
Select item 3029636	NM_138694.4(PKHD1):c.6375C>T (p.His2125=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related condition	GLikely benign
Select item 3029333	NM_138694.4(PKHD1):c.5826T>C (p.Asp1942=)	PKHD1	Single nucleotide variant (synonymous variant)	PKHD1-related condition	GLikely benign
Select item 3029291	NM_138694.4(PKHD1):c.7050_7053del (p.Asn2350fs)	PKHD1 (N2350fs)	Microsatellite (frameshift variant)	PKHD1-related condition	GLikely pathogenic
Select item 3022924	NM_138694.4(PKHD1):c.4104A>C (p.Val1368=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3022907	NM_138694.4(PKHD1):c.7109+19A>G	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3022744	NM_138694.4(PKHD1):c.7912-13C>T	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3021965	NM_138694.4(PKHD1):c.2140+19C>G	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3021912	NM_138694.4(PKHD1):c.130+12T>C	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3021046	NM_138694.4(PKHD1):c.6808+12A>G	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3021004	NM_138694.4(PKHD1):c.5909-12T>A	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3020607	NM_138694.4(PKHD1):c.9627C>G (p.Ser3209Arg)	PKHD1 (S3209R)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 3020574	NM_138694.4(PKHD1):c.11399-12A>G	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3020488	NM_138694.4(PKHD1):c.11507-16_11507-14del	PKHD1	Microsatellite (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3020465	NM_138694.4(PKHD1):c.2140+14TC[3]	PKHD1	Microsatellite (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3020195	NM_138694.4(PKHD1):c.7351-20T>A	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3020002	NM_138694.4(PKHD1):c.1513-11G>C	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3019842	NM_138694.4(PKHD1):c.977-19C>T	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3019706	NM_138694.4(PKHD1):c.10774C>T (p.Gln3592Ter)	PKHD1 (Q3592*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease	GPathogenic
Select item 3019689	NM_138694.4(PKHD1):c.4401G>T (p.Gly1467=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3019579	NM_138694.4(PKHD1):c.448+15A>G	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3019562	NM_138694.4(PKHD1):c.5909-15C>T	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3019553	NM_138694.4(PKHD1):c.4999G>A (p.Asp1667Asn)	LOC126859690, PKHD1 (D1667N)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease	GUncertain significance
Select item 3019510	NM_138694.4(PKHD1):c.7215+11T>A	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GBenign
Select item 3019365	NM_138694.4(PKHD1):c.3495C>T (p.Pro1165=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3019193	NM_138694.4(PKHD1):c.11310+15G>T	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign
Select item 3018974	NM_138694.4(PKHD1):c.2408-18C>A	PKHD1	Single nucleotide variant (intron variant)	Autosomal recessive polycystic kidney disease	GLikely benign

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