ULK4[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 139

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 152487	GRCh38/hg38 3p22.1(chr3:41298396-41583960)x1	LOC126806660, ULK4	Copy number loss	See cases	GLikely benign
Select item 155361	GRCh38/hg38 3p22.1(chr3:41316452-41784984)x1	LOC126806660, ULK4	Copy number loss	See cases	GUncertain significance
Select item 148567	GRCh38/hg38 3p22.1(chr3:41330401-41768879)x1	LOC126806660, ULK4	Copy number loss	See cases	GLikely benign
Select item 632552	NC_000003.12:g.41359534_41821951del	LOC126806660, ULK4	Deletion	Obesity	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 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 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 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 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 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 147506	GRCh38/hg38 3p22.1(chr3:41416004-41768879)x1	LOC126806660, ULK4	Copy number loss	See cases	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 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 783999	NM_017886.4(ULK4):c.3411A>G (p.Ser1137=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 155454	GRCh38/hg38 3p22.1(chr3:41459706-41796883)x1	LOC126806660, ULK4	Copy number loss	See cases	GLikely benign
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 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 3040202	NM_017886.4(ULK4):c.3250C>T (p.Leu1084=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	ULK4-related disorder	GLikely benign
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 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 789277	NM_017886.4(ULK4):c.3201G>A (p.Ser1067=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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 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 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 545296	NC_000003.12:g.(?_41609544)_(41811095_?)del	ULK4	Deletion	Schizophrenia	GLikely pathogenic
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 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 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 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 224080	NM_017886.4(ULK4):c.2887G>A (p.Val963Met)	ULK4 (V963M +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related disorder +1 more	GLikely benign
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 3048584	NM_017886.4(ULK4):c.2849T>C (p.Phe950Ser)	ULK4 (F648S +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related disorder	GLikely benign
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 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 3053027	NM_017886.4(ULK4):c.2649T>C (p.Ser883=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	ULK4-related disorder	GLikely benign
Select item 224081	NM_017886.4(ULK4):c.2584C>T (p.Arg862Ter)	ULK4 (R862* +1 more)	Single nucleotide variant (nonsense +1 more)	ULK4-related disorder +1 more	GLikely benign
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 3060808	NM_017886.4(ULK4):c.2551G>A (p.Val851Ile)	ULK4 (V549I +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related disorder	GBenign
Select item 3035347	NM_017886.4(ULK4):c.2541C>T (p.Pro847=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	ULK4-related disorder	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 3059926	NM_017886.4(ULK4):c.2530T>A (p.Leu844Met)	ULK4 (L542M +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related disorder	GBenign
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 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 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 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 3043434	NM_017886.4(ULK4):c.2388T>C (p.Asn796=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	ULK4-related disorder	GLikely benign
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 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 2221044	NM_017886.4(ULK4):c.2272T>C (p.Tyr758His)	ULK4 (Y758H +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related disorder +1 more	GConflicting classifications of pathogenicity
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 2653697	NM_017886.4(ULK4):c.2217T>C (p.Arg739=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	ULK4-related disorder +1 more	GLikely benign
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 545297	NC_000003.12:g.(?_41760954)_(41858293_?)del	ULK4	Deletion	Schizophrenia	GLikely pathogenic
Select item 150060	GRCh38/hg38 3p22.1(chr3:41768820-41967280)x1	LOC129389061, LOC129936537 +2 more	Copy number loss	See cases	GLikely benign
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 3058955	NM_017886.4(ULK4):c.2143G>A (p.Ala715Thr)	ULK4 (A413T +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related disorder	GBenign
Select item 224082	NM_017886.4(ULK4):c.2056G>A (p.Val686Ile)	ULK4 (V686I +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related disorder +2 more	GLikely benign
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 403583	NM_017886.4(ULK4):c.1918T>G (p.Ser640Ala)	ULK4 (S640A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 545298	NC_000003.12:g.(?_41803875)_(41849829_?)del	ULK4	Deletion	Schizophrenia	GLikely pathogenic
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 disorder	GBenign
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 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 3060720	NM_017886.4(ULK4):c.1764+3G>A	ULK4	Single nucleotide variant (intron variant)	ULK4-related disorder	GLikely benign
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 3058867	NM_017886.4(ULK4):c.1706A>G (p.Lys569Arg)	ULK4 (K267R +1 more)	Single nucleotide variant (missense variant +1 more)	ULK4-related disorder	GBenign
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 57726	GRCh38/hg38 3p22.1(chr3:41880503-42550279)x3	CCK, LOC121009659 +36 more	Copy number gain	See cases	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 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 787013	NM_017886.4(ULK4):c.1626T>C (p.Ala542=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	ULK4-related disorder +1 more	GBenign/Likely benign
Select item 403584	NM_017886.4(ULK4):c.1624G>A (p.Ala542Thr)	ULK4 (A542T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 403585	NM_017886.4(ULK4):c.1599A>G (p.Val533=)	ULK4	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
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 403586	NM_017886.4(ULK4):c.1577+10G>A	ULK4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 57727	GRCh38/hg38 3p22.1(chr3:41896597-42336619)x3	CCK, LOC121009659 +28 more	Copy number gain	See cases	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 403587	NM_017886.4(ULK4):c.1349-5C>G	ULK4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 403588	NM_017886.4(ULK4):c.1288-9A>T	ULK4	Single nucleotide variant (intron variant)	not specified	GBenign
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 784000	NM_017886.4(ULK4):c.1183-8C>A	ULK4	Single nucleotide variant (intron variant)	not provided	GBenign
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 disorder	GLikely benign
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 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 3186369	NM_017886.4(ULK4):c.1070C>A (p.Ser357Tyr)	ULK4 (S55Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2