Related gene-specific medical variations for Gene (Select 27031) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1138

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201651	NM_153240.5(NPHP3):c.893A>G (p.Asn298Ser)	NPHP3, NPHP3-ACAD11 (N298S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201650	NM_153240.5(NPHP3):c.3904G>T (p.Ala1302Ser)	NPHP3, NPHP3-ACAD11 (A1302S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201648	NM_153240.5(NPHP3):c.3158C>T (p.Ser1053Phe)	NPHP3, NPHP3-ACAD11 (S1053F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201646	NM_153240.5(NPHP3):c.2227G>A (p.Asp743Asn)	NPHP3, NPHP3-ACAD11 (D743N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201645	NM_153240.5(NPHP3):c.1654C>T (p.Pro552Ser)	NPHP3, NPHP3-ACAD11 (P552S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201644	NM_153240.5(NPHP3):c.113C>T (p.Ala38Val)	LOC129937586, NPHP3 +2 more (A38V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3075955	NM_153240.5(NPHP3):c.1157del (p.Asn386fs)	NPHP3, NPHP3-ACAD11 (N386fs)	Deletion (non-coding transcript variant +1 more)	Nephronophthisis	GLikely pathogenic
Select item 3075695	NM_153240.5(NPHP3):c.2917C>T (p.Arg973Ter)	NPHP3, NPHP3-ACAD11 (R973*)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome	GPathogenic
Select item 3066093	NM_153240.5(NPHP3):c.3800T>C (p.Leu1267Ser)	NPHP3, NPHP3-ACAD11 (L1267S)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3	GUncertain significance
Select item 3066043	NM_153240.5(NPHP3):c.2712_2719dup (p.Tyr907delinsCysTer)	NPHP3, NPHP3-ACAD11	Microsatellite (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia	GLikely pathogenic
Select item 3063597	NM_153240.5(NPHP3):c.695G>A (p.Trp232Ter)	NPHP3, NPHP3-ACAD11 (W232*)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia	GPathogenic
Select item 3061194	NM_153240.5(NPHP3):c.261G>A (p.Ala87=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (synonymous variant +1 more)	NPHP3-related condition	GLikely benign
Select item 3061084	NM_153240.5(NPHP3):c.3233del (p.Leu1078fs)	NPHP3, NPHP3-ACAD11 (L1078fs)	Deletion (non-coding transcript variant +1 more)	NPHP3-related condition	GLikely pathogenic
Select item 3058509	NM_153240.5(NPHP3):c.394-4C>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	NPHP3-related condition	GLikely benign
Select item 3056674	NM_153240.5(NPHP3):c.2232T>G (p.Thr744=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related condition	GLikely benign
Select item 3054696	NM_153240.5(NPHP3):c.2694-7G>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	NPHP3-related condition	GLikely benign
Select item 3048686	NM_153240.5(NPHP3):c.393+8del	NPHP3, NPHP3-ACAD11 +1 more	Deletion (frameshift variant +2 more)	NPHP3-related condition	GLikely benign
Select item 3047564	NM_153240.5(NPHP3):c.-9A>G	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related condition	GLikely benign
Select item 3045116	NM_153240.5(NPHP3):c.2466A>G (p.Gln822=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related condition	GLikely benign
Select item 3030745	NM_153240.5(NPHP3):c.912C>T (p.Leu304=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related condition	GLikely benign
Select item 3019092	NM_153240.5(NPHP3):c.3726T>A (p.Tyr1242Ter)	NPHP3, NPHP3-ACAD11 (Y1242*)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GPathogenic
Select item 3016545	NM_153240.5(NPHP3):c.3642G>A (p.Lys1214=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 3006860	NM_153240.5(NPHP3):c.2311-9T>C	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3001017	NM_153240.5(NPHP3):c.3118C>T (p.Gln1040Ter)	NPHP3, NPHP3-ACAD11 (Q1040*)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GPathogenic
Select item 2998786	NM_153240.5(NPHP3):c.824-8A>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2996949	NM_153240.5(NPHP3):c.60C>T (p.Tyr20=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2981261	NM_153240.5(NPHP3):c.2868A>G (p.Leu956=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2977300	NM_153240.5(NPHP3):c.1779A>G (p.Thr593=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2967002	NM_153240.5(NPHP3):c.2089-8T>C	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2960866	NM_153240.5(NPHP3):c.66G>T (p.Ala22=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2960626	NM_153240.5(NPHP3):c.2098C>T (p.Leu700=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2958079	NM_153240.5(NPHP3):c.3204C>T (p.Tyr1068=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +1 more	GLikely benign
Select item 2919893	NM_153240.5(NPHP3):c.1525-2A>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (splice acceptor variant)	Nephronophthisis	GLikely pathogenic
Select item 2916781	NM_153240.5(NPHP3):c.339C>G (p.Gly113=)	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2913594	NM_153240.5(NPHP3):c.1887+11C>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2913173	NM_153240.5(NPHP3):c.3551C>T (p.Ala1184Val)	NPHP3, NPHP3-ACAD11 (A1184V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2905125	NM_153240.5(NPHP3):c.3807G>A (p.Val1269=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2902688	NM_153240.5(NPHP3):c.3813-18_3813-17del	NPHP3, NPHP3-ACAD11	Deletion (intron variant)	Nephronophthisis	GLikely benign
Select item 2901171	NM_153240.5(NPHP3):c.1566G>A (p.Pro522=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2900478	NM_153240.5(NPHP3):c.1525-12T>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2898335	NM_153240.5(NPHP3):c.150G>A (p.Gly50=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2896458	NM_153240.5(NPHP3):c.531G>A (p.Glu177=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +1 more	GLikely benign
Select item 2895380	NM_153240.5(NPHP3):c.3697-11T>C	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2885520	NM_153240.5(NPHP3):c.519+13C>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2880592	NM_153240.5(NPHP3):c.393+7C>T	NPHP3, NPHP3-ACAD11 +1 more (P134S)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis	GLikely benign
Select item 2877982	NM_153240.5(NPHP3):c.1221T>C (p.Ser407=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2872636	NM_153240.5(NPHP3):c.132G>C (p.Ser44=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2870182	NM_153240.5(NPHP3):c.2310+17T>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2866440	NM_153240.5(NPHP3):c.1290A>G (p.Ser430=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2854055	NM_153240.5(NPHP3):c.3027A>G (p.Lys1009=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2835485	NM_153240.5(NPHP3):c.198G>T (p.Ala66=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2825257	NM_153240.5(NPHP3):c.545A>G (p.Glu182Gly)	NPHP3, NPHP3-ACAD11 (E182G)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2823292	NM_153240.5(NPHP3):c.166_167delinsTA (p.Gly56Ter)	LOC129937586, NPHP3 +2 more (G56*)	Indel (nonsense +1 more)	Nephronophthisis	GPathogenic
Select item 2811732	NM_153240.5(NPHP3):c.1119-18T>C	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2801958	NM_153240.5(NPHP3):c.1628+19A>C	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2771944	NM_153240.5(NPHP3):c.3571-3dup	NPHP3, NPHP3-ACAD11	Duplication (intron variant)	Nephronophthisis	GBenign
Select item 2769507	NM_153240.5(NPHP3):c.2667C>A (p.Leu889=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2753357	NM_153240.5(NPHP3):c.3892T>C (p.Leu1298=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2740922	NM_153240.5(NPHP3):c.3810dup (p.Ser1271Ter)	NPHP3, NPHP3-ACAD11 (S1271*)	Duplication (non-coding transcript variant +1 more)	Nephronophthisis	GPathogenic
Select item 2733248	NM_153240.5(NPHP3):c.3126-13A>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2732303	NM_153240.5(NPHP3):c.1628+9C>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2730078	NM_153240.5(NPHP3):c.186C>T (p.Arg62=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2723547	NM_153240.5(NPHP3):c.2475+19T>A	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2723359	NM_153240.5(NPHP3):c.519+13C>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2711977	NM_153240.5(NPHP3):c.3571-7T>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2694098	NM_153240.5(NPHP3):c.393+20C>G	NPHP3, NPHP3-ACAD11 +1 more (A138G)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis	GLikely benign
Select item 2682845	NM_153240.5(NPHP3):c.767C>G (p.Pro256Arg)	NPHP3, NPHP3-ACAD11 (P256R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2682844	NM_153240.5(NPHP3):c.2992T>C (p.Trp998Arg)	NPHP3, NPHP3-ACAD11 (W998R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2681759	NM_153240.5(NPHP3):c.748C>T (p.Gln250Ter)	NPHP3, NPHP3-ACAD11 (Q250*)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome	GPathogenic
Select item 2634638	NM_153240.5(NPHP3):c.3812+2dup	NPHP3, NPHP3-ACAD11	Duplication (splice donor variant)	NPHP3-related condition	GPathogenic
Select item 2634016	NM_153240.5(NPHP3):c.1791_1794dup (p.Leu599Ter)	NPHP3, NPHP3-ACAD11 (L599*)	Duplication (non-coding transcript variant +1 more)	NPHP3-related condition	GLikely pathogenic
Select item 2616005	NM_153240.5(NPHP3):c.1723A>G (p.Ile575Val)	NPHP3, NPHP3-ACAD11 (I575V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585009	NM_153240.5(NPHP3):c.176C>T (p.Ser59Leu)	LOC129937586, NPHP3 +2 more (S59L)	Single nucleotide variant (missense variant +1 more)	Renal-hepatic-pancreatic dysplasia 1	GUncertain significance
Select item 2584826	NM_153240.5(NPHP3):c.3466G>T (p.Glu1156Ter)	NPHP3, NPHP3-ACAD11 (E1156*)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1	GLikely pathogenic
Select item 2584475	NM_153240.5(NPHP3):c.2647del (p.His883fs)	NPHP3, NPHP3-ACAD11 (H883fs)	Deletion (non-coding transcript variant +1 more)	NPHP3-related disorders	GLikely pathogenic
Select item 2575788	NM_153240.5(NPHP3):c.3776G>A (p.Arg1259Gln)	NPHP3, NPHP3-ACAD11 (R1259Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2571847	NM_153240.5(NPHP3):c.3094G>A (p.Ala1032Thr)	NPHP3, NPHP3-ACAD11 (A1032T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2571805	NM_153240.5(NPHP3):c.1145C>A (p.Ala382Asp)	NPHP3, NPHP3-ACAD11 (A382D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2555853	NM_153240.5(NPHP3):c.1624A>C (p.Lys542Gln)	NPHP3, NPHP3-ACAD11 (K542Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537835	NM_153240.5(NPHP3):c.1576C>A (p.Leu526Ile)	NPHP3, NPHP3-ACAD11 (L526I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533387	NM_153240.5(NPHP3):c.3713C>T (p.Ala1238Val)	NPHP3, NPHP3-ACAD11 (A1238V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517812	NM_153240.5(NPHP3):c.1903A>C (p.Met635Leu)	NPHP3, NPHP3-ACAD11 (M635L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513248	NM_153240.5(NPHP3):c.70G>A (p.Gly24Ser)	LOC129937586, NPHP3 +2 more (G24S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2499840	NM_153240.5(NPHP3):c.*673C>G	NPHP3, NPHP3-ACAD11	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2499220	NM_153240.5(NPHP3):c.3330-3C>T	NPHP3, NPHP3-ACAD11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2498938	NM_153240.5(NPHP3):c.3020T>G (p.Leu1007Arg)	NPHP3, NPHP3-ACAD11 (L1007R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2498164	NM_153240.5(NPHP3):c.1598G>A (p.Gly533Asp)	NPHP3, NPHP3-ACAD11 (G533D)	Single nucleotide variant (non-coding transcript variant +1 more)	Fibrotic kidney disease	GLikely pathogenic
Select item 2463453	NM_153240.5(NPHP3):c.2806G>A (p.Glu936Lys)	NPHP3-ACAD11, NPHP3 (E936K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2434415	NM_153240.5(NPHP3):c.1085T>C (p.Leu362Ser)	NPHP3, NPHP3-ACAD11 (L362S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2430844	NM_153240.5(NPHP3):c.1550T>C (p.Val517Ala)	NPHP3, NPHP3-ACAD11 (V517A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2428821	NM_153240.5(NPHP3):c.-3G>T	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2420970	NM_153240.5(NPHP3):c.3612T>A (p.Val1204=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2417880	NM_153240.5(NPHP3):c.3607G>A (p.Ala1203Thr)	NPHP3, NPHP3-ACAD11 (A1203T)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2416882	NM_153240.5(NPHP3):c.3571-10del	NPHP3, NPHP3-ACAD11	Deletion (intron variant)	Nephronophthisis	GLikely benign
Select item 2416723	NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)	NPHP3, NPHP3-ACAD11 (Q511*)	Single nucleotide variant (non-coding transcript variant +1 more)	Joubert syndrome and related disorders +1 more	GPathogenic/Likely pathogenic
Select item 2415519	NM_153240.5(NPHP3):c.1817G>T (p.Trp606Leu)	NPHP3, NPHP3-ACAD11 (W606L)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2389002	NM_153240.5(NPHP3):c.1777A>T (p.Thr593Ser)	NPHP3, NPHP3-ACAD11 (T593S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378984	NM_153240.5(NPHP3):c.610G>A (p.Gly204Ser)	NPHP3, NPHP3-ACAD11 (G204S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355467	NM_153240.5(NPHP3):c.3608C>T (p.Ala1203Val)	NPHP3, NPHP3-ACAD11 (A1203V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332564	NM_153240.5(NPHP3):c.3083G>C (p.Arg1028Pro)	NPHP3, NPHP3-ACAD11 (R1028P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 12