ClinVar for Gene (Select 284086) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299239	NM_178170.3(NEK8):c.423G>A (p.Met141Ile)	NEK8 (M141I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299237	NM_178170.3(NEK8):c.1601T>C (p.Leu534Pro)	LOC130060573, NEK8 (L534P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299236	NM_178170.3(NEK8):c.2065C>T (p.Pro689Ser)	NEK8 (P689S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256607	K157Q	NEK8	Single nucleotide variant	POLYCYSTIC KIDNEY DISEASE 8	GPathogenic
Select item 3256606	NEK8, ARG45TRP	NEK8	Single nucleotide variant	POLYCYSTIC KIDNEY DISEASE 8	GPathogenic
Select item 3236798	NM_178170.3(NEK8):c.127G>A (p.Glu43Lys)	NEK8 (E43K)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2	GUncertain significance
Select item 3236239	NM_178170.3(NEK8):c.91A>G (p.Ile31Val)	NEK8 (I31V)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2	GUncertain significance
Select item 3192426	NM_178170.3(NEK8):c.676C>T (p.Arg226Trp)	NEK8 (R226W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192417	NM_178170.3(NEK8):c.44T>C (p.Phe15Ser)	NEK8 (F15S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192384	NM_178170.3(NEK8):c.196T>G (p.Tyr66Asp)	NEK8 (Y66D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192361	NM_178170.3(NEK8):c.1627C>G (p.Gln543Glu)	LOC130060573, NEK8 (Q543E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192358	NM_178170.3(NEK8):c.1619C>T (p.Pro540Leu)	LOC130060573, NEK8 (P540L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192344	NM_178170.3(NEK8):c.131A>T (p.Glu44Val)	NEK8 (E44V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066152	NM_178170.3(NEK8):c.142G>C (p.Ala48Pro)	NEK8 (A48P)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2	GUncertain significance
Select item 3054942	NM_178170.3(NEK8):c.1902G>A (p.Val634=)	NEK8	Single nucleotide variant (synonymous variant)	NEK8-related disorder	GLikely benign
Select item 3049929	NM_178170.3(NEK8):c.1222+10C>T	LOC130060569, NEK8	Single nucleotide variant (intron variant)	NEK8-related disorder	GLikely benign
Select item 3014559	NM_178170.3(NEK8):c.750C>T (p.Ser250=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 3012237	NM_178170.3(NEK8):c.225C>T (p.Ala75=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 3006515	NM_178170.3(NEK8):c.1222+12G>A	LOC130060569, NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 3006435	NM_178170.3(NEK8):c.1368G>A (p.Leu456=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 3004797	NM_178170.3(NEK8):c.890-20C>A	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 3004765	NM_178170.3(NEK8):c.802G>A (p.Asp268Asn)	NEK8 (D268N)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 2982522	NM_178170.3(NEK8):c.1905C>T (p.Tyr635=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2974870	NM_178170.3(NEK8):c.313A>G (p.Ile105Val)	NEK8 (I105V)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 2910499	NM_178170.3(NEK8):c.1071+12del	NEK8	Deletion (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2904995	NM_178170.3(NEK8):c.486+17G>T	LOC130060567, NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2899224	NM_178170.3(NEK8):c.2050+19C>G	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2890906	NM_178170.3(NEK8):c.1038C>T (p.Gly346=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2885979	NM_178170.3(NEK8):c.1330G>T (p.Glu444Ter)	NEK8 (E444*)	Single nucleotide variant (nonsense)	Nephronophthisis 9	GPathogenic
Select item 2885568	NM_178170.3(NEK8):c.1223-20C>T	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2882732	NM_178170.3(NEK8):c.254-12C>T	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2877650	NM_178170.3(NEK8):c.253+7C>T	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2862687	NM_178170.3(NEK8):c.57C>T (p.His19=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2854673	NM_178170.3(NEK8):c.1418-2A>C	NEK8	Single nucleotide variant (splice acceptor variant)	Nephronophthisis 9	GLikely pathogenic
Select item 2837419	NM_178170.3(NEK8):c.602G>C (p.Arg201Thr)	NEK8 (R201T)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 2804823	NM_178170.3(NEK8):c.624G>A (p.Leu208=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2772534	NM_178170.3(NEK8):c.2050+20A>G	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2772146	NM_178170.3(NEK8):c.1653A>C (p.Thr551=)	LOC130060573, NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2758624	NM_178170.3(NEK8):c.1245C>T (p.Phe415=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2754489	NM_178170.3(NEK8):c.47+20G>T	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2745213	NM_178170.3(NEK8):c.889+15G>A	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2741811	NM_178170.3(NEK8):c.828-4G>T	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2738522	NM_178170.3(NEK8):c.253+11C>T	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2738521	NM_178170.3(NEK8):c.912G>A (p.Arg304=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2733771	NM_178170.3(NEK8):c.487-9A>G	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2716410	NM_178170.3(NEK8):c.1512C>T (p.Ile504=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2712537	NM_178170.3(NEK8):c.1893G>A (p.Glu631=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2712194	NM_178170.3(NEK8):c.827+18G>A	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2698612	NM_178170.3(NEK8):c.286T>C (p.Cys96Arg)	NEK8 (C96R)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GLikely benign
Select item 2663928	NM_178170.3(NEK8):c.1891+1G>A	LOC130060574, NEK8	Single nucleotide variant (splice donor variant)	Renal-hepatic-pancreatic dysplasia 2	GUncertain significance
Select item 2647602	NM_178170.3(NEK8):c.1777T>C (p.Leu593=)	NEK8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631301	NM_178170.3(NEK8):c.1568+2T>C	NEK8	Single nucleotide variant (splice donor variant)	NEK8-related disorder	GLikely pathogenic
Select item 2592765	NM_178170.3(NEK8):c.667A>G (p.Ile223Val)	NEK8 (I223V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2555541	NM_178170.3(NEK8):c.23G>A (p.Arg8Gln)	NEK8 (R8Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544769	NM_178170.3(NEK8):c.767C>G (p.Pro256Arg)	NEK8 (P256R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524926	NM_178170.3(NEK8):c.818G>A (p.Arg273His)	NEK8 (R273H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519204	NM_178170.3(NEK8):c.1702C>A (p.Leu568Met)	NEK8 (L568M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515469	NM_178170.3(NEK8):c.1147C>A (p.Arg383Ser)	NEK8 (R383S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515259	NM_178170.3(NEK8):c.824G>A (p.Arg275Gln)	NEK8 (R275Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508639	NM_178170.3(NEK8):c.1088C>T (p.Ala363Val)	NEK8 (A363V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500285	NM_178170.3(NEK8):c.618G>A (p.Ala206=)	NEK8	Single nucleotide variant (synonymous variant)	NEK8-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2488594	NM_178170.3(NEK8):c.2051C>T (p.Ser684Leu)	NEK8 (S684L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477130	NM_178170.3(NEK8):c.778C>T (p.Arg260Cys)	NEK8 (R260C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473098	NM_178170.3(NEK8):c.1723G>T (p.Ala575Ser)	NEK8 (A575S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444833	NM_178170.3(NEK8):c.508A>T (p.Ile170Phe)	NEK8 (I170F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443187	NM_178170.3(NEK8):c.618+9A>G	NEK8	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2442173	NM_178170.3(NEK8):c.37G>A (p.Gly13Ser)	NEK8 (G13S)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2	GUncertain significance
Select item 2441666	NM_178170.3(NEK8):c.1148G>C (p.Arg383Pro)	NEK8 (R383P)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2	GUncertain significance
Select item 2428477	NM_178170.3(NEK8):c.1931G>A (p.Arg644Gln)	NEK8 (R644Q)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	RAB34, RPL23A +29 more	Duplication	not provided	GUncertain significance
Select item 2419318	NM_178170.3(NEK8):c.1593C>T (p.His531=)	LOC130060573, NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2418339	NM_178170.3(NEK8):c.287G>T (p.Cys96Phe)	NEK8 (C96F)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 2414635	NM_178170.3(NEK8):c.1049C>T (p.Ser350Phe)	NEK8 (S350F)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 2407989	NM_178170.3(NEK8):c.1405C>T (p.Arg469Cys)	NEK8 (R469C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399245	NM_178170.3(NEK8):c.817C>T (p.Arg273Cys)	NEK8 (R273C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329023	NM_178170.3(NEK8):c.898C>T (p.Arg300Trp)	NEK8 (R300W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327689	NM_178170.3(NEK8):c.1573A>G (p.Asn525Asp)	LOC130060573, NEK8 (N525D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325541	NM_178170.3(NEK8):c.1594C>T (p.Leu532Phe)	LOC130060573, NEK8 (L532F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322163	NM_178170.3(NEK8):c.1328A>G (p.Tyr443Cys)	NEK8 (Y443C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296092	NM_178170.3(NEK8):c.2020T>C (p.Cys674Arg)	NEK8 (C674R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290829	NM_178170.3(NEK8):c.71A>T (p.Lys24Met)	NEK8 (K24M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283824	NM_178170.3(NEK8):c.41C>T (p.Ala14Val)	NEK8 (A14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266195	NM_178170.3(NEK8):c.1676A>C (p.Asp559Ala)	LOC130060573, NEK8 (D559A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265264	NM_178170.3(NEK8):c.1276G>A (p.Gly426Ser)	NEK8 (G426S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250408	NM_178170.3(NEK8):c.427G>A (p.Val143Ile)	NEK8 (V143I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242373	NM_178170.3(NEK8):c.59T>C (p.Leu20Pro)	NEK8 (L20P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218737	NM_178170.3(NEK8):c.869C>T (p.Thr290Ile)	NEK8 (T290I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194425	NM_178170.3(NEK8):c.1044G>A (p.Thr348=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2194354	NM_178170.3(NEK8):c.1891+9_1891+10del	LOC130060574, NEK8	Deletion (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2194342	NM_178170.3(NEK8):c.284G>A (p.Arg95His)	NEK8 (R95H)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 2193976	NM_178170.3(NEK8):c.1454G>A (p.Cys485Tyr)	NEK8 (C485Y)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 2185557	NM_178170.3(NEK8):c.1732+13T>G	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2167828	NM_178170.3(NEK8):c.478G>T (p.Ala160Ser)	NEK8 (A160S)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 2148490	NM_178170.3(NEK8):c.47+17G>A	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GLikely benign
Select item 2147170	NM_178170.3(NEK8):c.312C>A (p.Thr104=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2143743	NM_178170.3(NEK8):c.1086T>A (p.Gly362=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2142155	NM_178170.3(NEK8):c.1701C>T (p.Asp567=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GLikely benign
Select item 2141855	NM_178170.3(NEK8):c.1084G>C (p.Gly362Arg)	NEK8 (G362R)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance

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