Related gene-specific medical variations for Gene (Select 5311) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064871	NM_000297.4(PKD2):c.2118+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3064869	NM_000297.4(PKD2):c.2118+1G>T	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GUncertain significance
Select item 3062780	GRCh37/hg19 4q22.1(chr4:88969129-88992580)x1	PKD2	Copy number loss	not specified	GPathogenic
Select item 3062310	NM_000297.4(PKD2):c.2351_2354del (p.Lys784fs)	PKD2 (K784fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3061900	NM_000297.4(PKD2):c.339_358dup (p.Pro120delinsArgTrpThrTer)	LOC129992813, PKD2	Duplication (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 3029471	NM_000297.4(PKD2):c.252G>A (p.Arg84=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	PKD2-related condition	GLikely benign
Select item 3029240	NM_000297.4(PKD2):c.-3G>A	LOC129992813, PKD2	Single nucleotide variant (5 prime UTR variant +1 more)	PKD2-related condition	GLikely benign
Select item 3018541	NM_000297.4(PKD2):c.404G>T (p.Gly135Val)	LOC129992813, PKD2 (G135V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 3004335	NM_000297.4(PKD2):c.132C>T (p.Gly44=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 3000913	NM_000297.4(PKD2):c.273C>T (p.Asn91=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2987154	NM_000297.4(PKD2):c.208_219del (p.Gly70_Ala73del)	LOC129992813, PKD2	Deletion (inframe_deletion +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2984519	NM_000297.4(PKD2):c.112G>A (p.Ala38Thr)	LOC129992813, PKD2 (A38T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2971205	NM_000297.4(PKD2):c.6G>A (p.Val2=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2966507	NM_000297.4(PKD2):c.195_196delinsAA (p.Asp66Asn)	LOC129992813, PKD2 (D66N)	Indel (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2961477	NM_000297.4(PKD2):c.537C>T (p.Pro179=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2960211	NM_000297.4(PKD2):c.46A>G (p.Lys16Glu)	LOC129992813, PKD2 (K16E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2920117	NM_000297.4(PKD2):c.35C>T (p.Pro12Leu)	LOC129992813, PKD2 (P12L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2919286	NM_000297.4(PKD2):c.356G>C (p.Arg119Pro)	LOC129992813, PKD2 (R119P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2912253	NM_000297.4(PKD2):c.538C>G (p.Leu180Val)	LOC129992813, PKD2 (L180V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2911882	NM_000297.4(PKD2):c.54G>C (p.Pro18=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2882463	NM_000297.4(PKD2):c.37G>C (p.Gly13Arg)	LOC129992813, PKD2 (G13R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2880053	NM_000297.4(PKD2):c.359C>G (p.Pro120Arg)	LOC129992813, PKD2 (P120R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2858901	NM_000297.4(PKD2):c.150G>A (p.Arg50=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2835740	NM_000297.4(PKD2):c.491G>A (p.Cys164Tyr)	LOC129992813, PKD2 (C164Y)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2826787	NM_000297.4(PKD2):c.507C>T (p.Gly169=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2826064	NM_000297.4(PKD2):c.55C>T (p.Pro19Ser)	LOC129992813, PKD2 (P19S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2822571	NM_000297.4(PKD2):c.65_66delinsTT (p.Arg22Leu)	LOC129992813, PKD2 (R22L)	Indel (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2814947	NM_000297.4(PKD2):c.144G>C (p.Glu48Asp)	LOC129992813, PKD2 (E48D)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2807024	NM_000297.4(PKD2):c.185C>T (p.Ala62Val)	LOC129992813, PKD2 (A62V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2796066	NM_000297.4(PKD2):c.224C>A (p.Pro75His)	LOC129992813, PKD2 (P75H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2776731	NM_000297.4(PKD2):c.140G>T (p.Cys47Phe)	LOC129992813, PKD2 (C47F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2766895	NM_000297.4(PKD2):c.42C>T (p.Asp14=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2764708	NM_000297.4(PKD2):c.182A>G (p.Gln61Arg)	LOC129992813, PKD2 (Q61R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2760378	NM_000297.4(PKD2):c.477C>T (p.Asp159=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2748232	NM_000297.4(PKD2):c.443dup (p.His149fs)	LOC129992813, PKD2 (H149fs)	Duplication (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 2729000	NM_000297.4(PKD2):c.486G>A (p.Pro162=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2727575	NM_000297.4(PKD2):c.123C>T (p.Ala41=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2723073	NM_000297.4(PKD2):c.229C>T (p.Pro77Ser)	LOC129992813, PKD2 (P77S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2722248	NM_000297.4(PKD2):c.463C>T (p.Arg155Cys)	LOC129992813, PKD2 (R155C)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2719263	NM_000297.4(PKD2):c.161T>C (p.Ile54Thr)	LOC129992813, PKD2 (I54T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2700156	NM_000297.4(PKD2):c.324C>T (p.Gly108=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2695968	NM_000297.4(PKD2):c.73G>C (p.Asp25His)	LOC129992813, PKD2 (D25H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2683951	NM_000297.4(PKD2):c.316del (p.Glu106fs)	LOC129992813, PKD2 (E106fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 2683948	NM_000297.4(PKD2):c.1792_1794delinsCCAAA (p.Phe598fs)	PKD2 (F598fs)	Indel (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 2664070	NM_000297.4(PKD2):c.2358+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2	GPathogenic
Select item 2634404	NM_000297.4(PKD2):c.532C>T (p.Leu178Phe)	LOC129992813, PKD2 (L178F)	Single nucleotide variant (missense variant +1 more)	PKD2-related condition +1 more	GUncertain significance
Select item 2632138	NM_000297.4(PKD2):c.253C>T (p.Gln85Ter)	LOC129992813, PKD2 (Q85*)	Single nucleotide variant (nonsense +1 more)	PKD2-related condition	GPathogenic
Select item 2582760	NM_000297.4(PKD2):c.1904C>G (p.Thr635Ser)	PKD2 (T635S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 2	GUncertain significance
Select item 2574209	NM_000297.4(PKD2):c.136C>T (p.Leu46Phe)	LOC129992813, PKD2 (L46F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 2564735	NM_000297.4(PKD2):c.218C>T (p.Ala73Val)	LOC129992813, PKD2 (A73V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534437	NM_000297.4(PKD2):c.503T>C (p.Val168Ala)	LOC129992813, PKD2 (V168A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2534436	NM_000297.4(PKD2):c.490T>A (p.Cys164Ser)	LOC129992813, PKD2 (C164S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514777	NM_000297.4(PKD2):c.586G>C (p.Gly196Arg)	LOC129992813, PKD2 (G196R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2502825	NM_000297.4(PKD2):c.2014C>G (p.Leu672Val)	PKD2 (L672V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 2	GUncertain significance
Select item 2465688	NM_000297.4(PKD2):c.289G>A (p.Glu97Lys)	LOC129992813, PKD2 (E97K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 2434877	NM_000297.4(PKD2):c.2444A>G (p.Asp815Gly)	PKD2 (D815G)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 2434876	NM_000297.4(PKD2):c.1181_1183del (p.Asp394_Leu395delinsVal)	PKD2	Deletion (inframe_indel +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 2420602	NM_000297.4(PKD2):c.486G>C (p.Pro162=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2413831	NM_000297.4(PKD2):c.18C>G (p.Arg6=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2365216	NM_000297.4(PKD2):c.487C>A (p.Pro163Thr)	LOC129992813, PKD2 (P163T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2200778	NM_000297.4(PKD2):c.459G>A (p.Arg153=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2192308	NM_000297.4(PKD2):c.230C>G (p.Pro77Arg)	LOC129992813, PKD2 (P77R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2191448	NM_000297.4(PKD2):c.120C>T (p.Leu40=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2175889	NM_000297.4(PKD2):c.121G>C (p.Ala41Pro)	LOC129992813, PKD2 (A41P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2170873	NM_000297.4(PKD2):c.233C>T (p.Pro78Leu)	LOC129992813, PKD2 (P78L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2151867	NM_000297.4(PKD2):c.274C>T (p.Pro92Ser)	LOC129992813, PKD2 (P92S)	Single nucleotide variant (missense variant +1 more)	PKD2-related condition +1 more	GLikely benign
Select item 2151320	NM_000297.4(PKD2):c.451A>G (p.Ser151Gly)	LOC129992813, PKD2 (S151G)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2123276	NM_000297.4(PKD2):c.114C>A (p.Ala38=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2100528	NM_000297.4(PKD2):c.495C>T (p.Pro165=)	LOC129992813, PKD2	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2099535	NM_000297.4(PKD2):c.204G>A (p.Pro68=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2087027	NM_000297.4(PKD2):c.208G>T (p.Gly70Ter)	LOC129992813, PKD2 (G70*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 2086126	NM_000297.4(PKD2):c.386C>G (p.Ser129Trp)	LOC129992813, PKD2 (S129W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2082942	NM_000297.4(PKD2):c.239C>G (p.Ser80Trp)	LOC129992813, PKD2 (S80W)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2082731	NM_000297.4(PKD2):c.484C>T (p.Pro162Ser)	LOC129992813, PKD2 (P162S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2078491	NM_000297.4(PKD2):c.2T>A (p.Met1Lys)	LOC129992813, PKD2 (M1K)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2061336	NM_000297.4(PKD2):c.149G>A (p.Arg50Gln)	LOC129992813, PKD2 (R50Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2048253	NM_000297.4(PKD2):c.152G>T (p.Gly51Val)	LOC129992813, PKD2 (G51V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2047318	NM_000297.4(PKD2):c.65G>A (p.Arg22His)	LOC129992813, PKD2 (R22H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2046197	NM_000297.4(PKD2):c.239C>T (p.Ser80Leu)	LOC129992813, PKD2 (S80L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2038698	NM_000297.4(PKD2):c.17G>A (p.Arg6His)	LOC129992813, PKD2 (R6H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2014915	NM_000297.4(PKD2):c.422T>C (p.Leu141Pro)	LOC129992813, PKD2 (L141P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2012207	NM_000297.4(PKD2):c.341T>G (p.Met114Arg)	LOC129992813, PKD2 (M114R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2010943	NM_000297.4(PKD2):c.421C>T (p.Leu141Phe)	LOC129992813, PKD2 (L141F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2002846	NM_000297.4(PKD2):c.56C>T (p.Pro19Leu)	LOC129992813, PKD2 (P19L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2001819	NM_000297.4(PKD2):c.254A>G (p.Gln85Arg)	LOC129992813, PKD2 (Q85R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1996962	NM_000297.4(PKD2):c.282del (p.Phe94fs)	LOC129992813, PKD2 (F94fs)	Deletion (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 1987127	NM_000297.4(PKD2):c.68C>T (p.Ala23Val)	LOC129992813, PKD2 (A23V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1984705	NM_000297.4(PKD2):c.402_403delinsAA (p.Gly135Ser)	LOC129992813, PKD2 (G135S)	Indel (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1983383	NM_000297.4(PKD2):c.77C>T (p.Pro26Leu)	LOC129992813, PKD2 (P26L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1983131	NM_000297.4(PKD2):c.76C>T (p.Pro26Ser)	LOC129992813, PKD2 (P26S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1979191	NM_000297.4(PKD2):c.146A>G (p.Gln49Arg)	LOC129992813, PKD2 (Q49R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1977823	NM_000297.4(PKD2):c.64C>A (p.Arg22Ser)	LOC129992813, PKD2 (R22S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1958989	NM_000297.4(PKD2):c.76C>A (p.Pro26Thr)	LOC129992813, PKD2 (P26T)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1953654	NM_000297.4(PKD2):c.163G>A (p.Glu55Lys)	LOC129992813, PKD2 (E55K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1921308	NM_000297.4(PKD2):c.519G>A (p.Pro173=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 1913227	NM_000297.4(PKD2):c.489G>A (p.Pro163=)	LOC129992813, PKD2	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 1896163	NM_000297.4(PKD2):c.82C>T (p.Arg28Trp)	LOC129992813, PKD2 (R28W)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1895523	NM_000297.4(PKD2):c.496A>T (p.Ser166Cys)	LOC129992813, PKD2 (S166C)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1810101	NM_000297.4(PKD2):c.11C>A (p.Ser4Tyr)	LOC129992813, PKD2 (S4Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807329	NM_000297.4(PKD2):c.2651T>C (p.Leu884Pro)	PKD2 (L884P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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