ClinVar for Gene (Select 54986) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3186396	NM_017886.4(ULK4):c.815C>T (p.Thr272Ile)	ULK4 (T272I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186395	NM_017886.4(ULK4):c.784C>A (p.Gln262Lys)	ULK4 (Q262K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186394	NM_017886.4(ULK4):c.665A>G (p.Glu222Gly)	ULK4 (E222G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186393	NM_017886.4(ULK4):c.59A>G (p.Lys20Arg)	ULK4 (K20R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186391	NM_017886.4(ULK4):c.415A>G (p.Asn139Asp)	ULK4 (N139D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186390	NM_017886.4(ULK4):c.3733C>T (p.Arg1245Trp)	ULK4 (R943W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186389	NM_017886.4(ULK4):c.364A>G (p.Ile122Val)	ULK4 (I122V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186388	NM_017886.4(ULK4):c.3571A>G (p.Asn1191Asp)	ULK4 (N1191D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186387	NM_017886.4(ULK4):c.3442C>G (p.Leu1148Val)	ULK4 (L1148V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186386	NM_017886.4(ULK4):c.3404C>G (p.Ser1135Cys)	ULK4 (S833C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186385	NM_017886.4(ULK4):c.3041C>T (p.Ala1014Val)	ULK4 (A712V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186384	NM_017886.4(ULK4):c.3006C>G (p.Asp1002Glu)	ULK4 (D1002E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186383	NM_017886.4(ULK4):c.2993T>C (p.Leu998Pro)	ULK4 (L696P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186382	NM_017886.4(ULK4):c.2858G>A (p.Arg953Gln)	ULK4 (R651Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186381	NM_017886.4(ULK4):c.2740A>T (p.Ile914Leu)	ULK4 (I914L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186380	NM_017886.4(ULK4):c.2715G>T (p.Lys905Asn)	ULK4 (K603N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186379	NM_017886.4(ULK4):c.2666C>T (p.Thr889Met)	ULK4 (T889M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186378	NM_017886.4(ULK4):c.2566G>C (p.Val856Leu)	ULK4 (V554L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186377	NM_017886.4(ULK4):c.2346C>G (p.Asp782Glu)	ULK4 (D480E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186376	NM_017886.4(ULK4):c.1786A>G (p.Arg596Gly)	ULK4 (R294G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186375	NM_017886.4(ULK4):c.1681A>G (p.Ile561Val)	ULK4 (I259V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186374	NM_017886.4(ULK4):c.1660A>G (p.Ile554Val)	ULK4 (I554V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186373	NM_017886.4(ULK4):c.1520A>C (p.His507Pro)	ULK4 (H205P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186372	NM_017886.4(ULK4):c.1421C>T (p.Ser474Phe)	ULK4 (S172F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186371	NM_017886.4(ULK4):c.12T>A (p.Phe4Leu)	ULK4 (F4L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186370	NM_017886.4(ULK4):c.121C>G (p.Pro41Ala)	ULK4 (P41A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186369	NM_017886.4(ULK4):c.1070C>A (p.Ser357Tyr)	ULK4 (S55Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186368	NM_017886.4(ULK4):c.1034G>A (p.Arg345Gln)	ULK4 (R43Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060808	NM_017886.4(ULK4):c.2551G>A (p.Val851Ile)	ULK4 (V549I +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related condition	GBenign
Select item 3060720	NM_017886.4(ULK4):c.1764+3G>A	ULK4	Single nucleotide variant (intron variant)	ULK4-related condition	GLikely benign
Select item 3059926	NM_017886.4(ULK4):c.2530T>A (p.Leu844Met)	ULK4 (L542M +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related condition	GBenign
Select item 3059632	NM_017886.4(ULK4):c.1042A>G (p.Ser348Gly)	ULK4 (S348G +1 more)	Single nucleotide variant (missense variant)	ULK4-related condition	GBenign
Select item 3058955	NM_017886.4(ULK4):c.2143G>A (p.Ala715Thr)	ULK4 (A413T +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related condition	GBenign
Select item 3058867	NM_017886.4(ULK4):c.1706A>G (p.Lys569Arg)	ULK4 (K267R +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related condition	GBenign
Select item 3056778	NM_017886.4(ULK4):c.165C>T (p.His55=)	ULK4	Single nucleotide variant (synonymous variant +2 more)	ULK4-related condition	GLikely benign
Select item 3055633	NM_017886.4(ULK4):c.1056T>C (p.Gly352=)	ULK4	Single nucleotide variant (synonymous variant)	ULK4-related condition	GBenign
Select item 3053027	NM_017886.4(ULK4):c.2649T>C (p.Ser883=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	ULK4-related condition	GLikely benign
Select item 3052241	NM_017886.4(ULK4):c.896+5T>G	ULK4	Single nucleotide variant (intron variant)	ULK4-related condition	GLikely benign
Select item 3051002	NM_017886.4(ULK4):c.1160A>G (p.Gln387Arg)	ULK4 (Q387R +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related condition	GLikely benign
Select item 3048584	NM_017886.4(ULK4):c.2849T>C (p.Phe950Ser)	ULK4 (F648S +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related condition	GLikely benign
Select item 3043434	NM_017886.4(ULK4):c.2388T>C (p.Asn796=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	ULK4-related condition	GLikely benign
Select item 3041376	NM_017886.4(ULK4):c.876C>T (p.Ser292=)	ULK4	Single nucleotide variant (synonymous variant +2 more)	ULK4-related condition	GLikely benign
Select item 3040202	NM_017886.4(ULK4):c.3250C>T (p.Leu1084=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	ULK4-related condition	GLikely benign
Select item 3038191	NM_017886.4(ULK4):c.1808T>C (p.Leu603Ser)	ULK4 (L301S +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related condition	GBenign
Select item 3035347	NM_017886.4(ULK4):c.2541C>T (p.Pro847=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	ULK4-related condition	GLikely benign
Select item 2685078	GRCh37/hg19 3p22.1(chr3:41683229-41843911)x1	ULK4	Copy number loss	not provided	GUncertain significance
Select item 2653699	NM_017886.4(ULK4):c.493G>A (p.Asp165Asn)	ULK4 (D165N)	Single nucleotide variant (missense variant +2 more)	ULK4-related condition +1 more	GLikely benign
Select item 2653698	NM_017886.4(ULK4):c.903C>T (p.Asn301=)	ULK4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2653697	NM_017886.4(ULK4):c.2217T>C (p.Arg739=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	ULK4-related condition +1 more	GLikely benign
Select item 2653696	NM_017886.4(ULK4):c.2532G>A (p.Leu844=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2615409	NM_017886.4(ULK4):c.1783C>A (p.Pro595Thr)	ULK4 (P595T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608383	NM_017886.4(ULK4):c.3218A>T (p.Tyr1073Phe)	ULK4 (Y1073F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606970	NM_017886.4(ULK4):c.2182A>C (p.Ile728Leu)	ULK4 (I728L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601134	NM_017886.4(ULK4):c.3316C>G (p.Pro1106Ala)	ULK4 (P804A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2561173	NM_017886.4(ULK4):c.3159T>G (p.Ser1053Arg)	ULK4 (S1053R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558730	NM_017886.4(ULK4):c.1096A>T (p.Thr366Ser)	ULK4 (T366S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542625	NM_017886.4(ULK4):c.2209A>G (p.Ile737Val)	ULK4 (I435V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2532522	NM_017886.4(ULK4):c.736C>T (p.Arg246Cys)	ULK4 (R246C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524710	NM_017886.4(ULK4):c.3762T>A (p.Ser1254Arg)	ULK4 (S1254R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521782	NM_017886.4(ULK4):c.728A>G (p.Asp243Gly)	ULK4 (D243G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519802	NM_017886.4(ULK4):c.935A>G (p.Lys312Arg)	ULK4 (K10R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515795	NM_017886.4(ULK4):c.272A>G (p.Glu91Gly)	ULK4 (E91G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510130	NM_017886.4(ULK4):c.2491C>G (p.Arg831Gly)	ULK4 (R529G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493981	NM_017886.4(ULK4):c.3602A>G (p.Glu1201Gly)	ULK4 (E1201G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493283	NM_017886.4(ULK4):c.1241A>T (p.Tyr414Phe)	ULK4 (Y414F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485380	NM_017886.4(ULK4):c.3205A>G (p.Met1069Val)	ULK4 (M1069V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476547	NM_017886.4(ULK4):c.2525T>G (p.Leu842Arg)	ULK4 (L842R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465153	NM_017886.4(ULK4):c.3817G>A (p.Val1273Ile)	ULK4 (V971I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402580	NM_017886.4(ULK4):c.3515T>C (p.Ile1172Thr)	ULK4 (I1172T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395517	NM_017886.4(ULK4):c.1627G>A (p.Glu543Lys)	ULK4 (E241K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374932	NM_017886.4(ULK4):c.3374T>C (p.Ile1125Thr)	ULK4 (I1125T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372258	NM_017886.4(ULK4):c.2780C>T (p.Thr927Met)	ULK4 (T625M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352720	NM_017886.4(ULK4):c.2273A>T (p.Tyr758Phe)	ULK4 (Y456F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351352	NM_017886.4(ULK4):c.901A>C (p.Asn301His)	ULK4 (N301H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343499	NM_017886.4(ULK4):c.2413C>T (p.Leu805Phe)	ULK4 (L503F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341023	NM_017886.4(ULK4):c.1648G>A (p.Val550Ile)	ULK4 (V550I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339186	NM_017886.4(ULK4):c.1753G>A (p.Val585Ile)	ULK4 (V585I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335618	NM_017886.4(ULK4):c.1578A>G (p.Ile526Met)	ULK4 (I224M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323455	NM_017886.4(ULK4):c.2021G>A (p.Arg674Lys)	ULK4 (R674K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315490	NM_017886.4(ULK4):c.3185T>A (p.Val1062Asp)	ULK4 (V760D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310770	NM_017886.4(ULK4):c.3560A>G (p.Tyr1187Cys)	ULK4 (Y1187C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303051	NM_017886.4(ULK4):c.2258T>C (p.Phe753Ser)	ULK4 (F753S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301051	NM_017886.4(ULK4):c.3454A>G (p.Arg1152Gly)	ULK4 (R1152G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293013	NM_017886.4(ULK4):c.3073C>T (p.Leu1025Phe)	ULK4 (L723F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288788	NM_017886.4(ULK4):c.3574C>T (p.Pro1192Ser)	ULK4 (P1192S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285839	NM_017886.4(ULK4):c.3620T>C (p.Leu1207Pro)	ULK4 (L905P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282870	NM_017886.4(ULK4):c.978C>G (p.His326Gln)	ULK4 (H24Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280021	NM_017886.4(ULK4):c.2942A>G (p.Asn981Ser)	ULK4 (N981S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2275405	NM_017886.4(ULK4):c.2461A>T (p.Ile821Phe)	ULK4 (I519F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267311	NM_017886.4(ULK4):c.334C>T (p.Leu112Phe)	ULK4 (L112F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2265517	NM_017886.4(ULK4):c.2890A>G (p.Asn964Asp)	ULK4 (N662D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257135	NM_017886.4(ULK4):c.3776A>G (p.Asp1259Gly)	ULK4 (D1259G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245052	NM_017886.4(ULK4):c.3752C>T (p.Ala1251Val)	ULK4 (A1251V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233736	NM_017886.4(ULK4):c.1090C>T (p.Arg364Cys)	ULK4 (R364C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221044	NM_017886.4(ULK4):c.2272T>C (p.Tyr758His)	ULK4 (Y758H +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2218804	NM_017886.4(ULK4):c.3745C>T (p.Arg1249Trp)	ULK4 (R1249W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218598	NM_017886.4(ULK4):c.3122A>T (p.Glu1041Val)	ULK4 (E739V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213602	NM_017886.4(ULK4):c.3781G>A (p.Ala1261Thr)	ULK4 (A959T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808939	GRCh37/hg19 3p22.1(chr3:41589544-41734680)x1	ULK4	Copy number loss	not provided	GUncertain significance
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	POMGNT2, SEC22C +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance

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