ClinVar for Gene (Select 55075) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356745	NM_018003.4(UACA):c.747A>C (p.Leu249=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GLikely benign
Select item 3330474	NM_018003.4(UACA):c.470G>T (p.Gly157Val)	UACA (G144V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330473	NM_018003.4(UACA):c.1651G>A (p.Val551Ile)	UACA (V538I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330472	NM_018003.4(UACA):c.2273A>C (p.Asp758Ala)	UACA (D745A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330471	NM_018003.4(UACA):c.923A>G (p.Glu308Gly)	UACA (E308G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330470	NM_018003.4(UACA):c.1831G>A (p.Glu611Lys)	UACA (E611K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330469	NM_018003.4(UACA):c.1186C>T (p.Leu396Phe)	UACA (L396F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330468	NM_018003.4(UACA):c.4058G>A (p.Ser1353Asn)	UACA (S1353N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330467	NM_018003.4(UACA):c.2285A>G (p.Asp762Gly)	UACA (D749G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330466	NM_018003.4(UACA):c.1588G>A (p.Glu530Lys)	UACA (E517K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330465	NM_018003.4(UACA):c.4231C>T (p.Arg1411Trp)	UACA (R1398W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330464	NM_018003.4(UACA):c.2561T>A (p.Met854Lys)	UACA (M854K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330463	NM_018003.4(UACA):c.2785G>A (p.Glu929Lys)	UACA (E916K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330462	NM_018003.4(UACA):c.1349G>A (p.Arg450Gln)	UACA (R450Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185352	NM_018003.4(UACA):c.857T>G (p.Val286Gly)	UACA (V273G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185351	NM_018003.4(UACA):c.586A>G (p.Arg196Gly)	UACA (R183G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185349	NM_018003.4(UACA):c.46C>T (p.Pro16Ser)	LOC130057444, UACA (P16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185348	NM_018003.4(UACA):c.3743C>T (p.Ala1248Val)	UACA (A1235V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185347	NM_018003.4(UACA):c.3544A>G (p.Ile1182Val)	UACA (I1169V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185346	NM_018003.4(UACA):c.3331C>T (p.His1111Tyr)	UACA (H1098Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185345	NM_018003.4(UACA):c.3197A>G (p.Asp1066Gly)	UACA (D1066G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185343	NM_018003.4(UACA):c.2959C>T (p.Pro987Ser)	UACA (P974S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185342	NM_018003.4(UACA):c.278A>G (p.Asp93Gly)	UACA (D80G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185341	NM_018003.4(UACA):c.274G>A (p.Val92Ile)	UACA (V92I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185339	NM_018003.4(UACA):c.2536T>G (p.Ser846Ala)	UACA (S846A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185338	NM_018003.4(UACA):c.235G>C (p.Gly79Arg)	UACA (G66R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185336	NM_018003.4(UACA):c.1631A>G (p.Asp544Gly)	UACA (D544G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185335	NM_018003.4(UACA):c.1453A>G (p.Lys485Glu)	UACA (K472E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185334	NM_018003.4(UACA):c.133G>A (p.Gly45Arg)	UACA (G45R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185333	NM_018003.4(UACA):c.1266G>A (p.Met422Ile)	UACA (M409I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185332	NM_018003.4(UACA):c.1235G>T (p.Gly412Val)	UACA (G412V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185331	NM_018003.4(UACA):c.1028G>A (p.Ser343Asn)	UACA (S330N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059942	NM_018003.4(UACA):c.153C>G (p.Thr51=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GBenign
Select item 3059570	NM_018003.4(UACA):c.2955C>T (p.Tyr985=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GBenign
Select item 3057798	NM_018003.4(UACA):c.60C>T (p.Gly20=)	LOC130057444, UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GLikely benign
Select item 3057193	NM_018003.4(UACA):c.4008T>C (p.Asn1336=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GBenign
Select item 3056943	NM_018003.4(UACA):c.2601G>A (p.Glu867=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GBenign
Select item 3056731	NM_018003.4(UACA):c.213-7del	UACA	Deletion (intron variant)	UACA-related disorder	GLikely benign
Select item 3056711	NM_018003.4(UACA):c.822+5A>G	UACA	Single nucleotide variant (intron variant)	UACA-related disorder	GBenign
Select item 3056303	NM_018003.4(UACA):c.1207A>G (p.Met403Val)	UACA (M390V +1 more)	Single nucleotide variant (missense variant)	UACA-related disorder	GBenign
Select item 3056178	NM_018003.4(UACA):c.3447G>A (p.Val1149=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GBenign
Select item 3056160	NM_018003.4(UACA):c.1113T>C (p.Asn371=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GBenign
Select item 3055491	NM_018003.4(UACA):c.2338T>A (p.Leu780Met)	UACA (L767M +1 more)	Single nucleotide variant (missense variant)	UACA-related disorder	GBenign
Select item 3055452	NM_018003.4(UACA):c.3220G>T (p.Asp1074Tyr)	UACA (D1061Y +1 more)	Single nucleotide variant (missense variant)	UACA-related disorder	GBenign
Select item 3052868	NM_018003.4(UACA):c.972C>T (p.Val324=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GLikely benign
Select item 3051519	NM_018003.4(UACA):c.2965G>A (p.Val989Ile)	UACA (V976I +1 more)	Single nucleotide variant (missense variant)	UACA-related disorder	GLikely benign
Select item 3048604	NM_018003.4(UACA):c.1863G>A (p.Ala621=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GLikely benign
Select item 3047143	NM_018003.4(UACA):c.4007A>G (p.Asn1336Ser)	UACA (N1323S +1 more)	Single nucleotide variant (missense variant)	UACA-related disorder	GLikely benign
Select item 3046606	NM_018003.4(UACA):c.4248C>T (p.Cys1416=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GLikely benign
Select item 3044292	NM_018003.4(UACA):c.999+9A>G	UACA	Single nucleotide variant (intron variant)	UACA-related disorder	GLikely benign
Select item 3042152	NM_018003.4(UACA):c.3312A>G (p.Gln1104=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GBenign
Select item 3041797	NM_018003.4(UACA):c.660T>A (p.Ile220=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GLikely benign
Select item 3041158	NM_018003.4(UACA):c.831G>A (p.Leu277=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GLikely benign
Select item 3040596	NM_018003.4(UACA):c.2692G>A (p.Val898Ile)	UACA (V885I +1 more)	Single nucleotide variant (missense variant)	UACA-related disorder	GLikely benign
Select item 3040009	NM_018003.4(UACA):c.3669A>G (p.Val1223=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GLikely benign
Select item 3039917	NM_018003.4(UACA):c.324T>C (p.Ala108=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GLikely benign
Select item 3038728	NM_018003.4(UACA):c.974A>G (p.Asn325Ser)	UACA (N312S +1 more)	Single nucleotide variant (missense variant)	UACA-related disorder	GBenign
Select item 3038281	NM_018003.4(UACA):c.79-6T>C	UACA	Single nucleotide variant (intron variant)	UACA-related disorder	GBenign
Select item 3035524	NM_018003.4(UACA):c.2441T>C (p.Ile814Thr)	UACA (I801T +1 more)	Single nucleotide variant (missense variant)	UACA-related disorder	GBenign
Select item 3034788	NM_018003.4(UACA):c.-10A>G	LOC130057444, UACA	Single nucleotide variant (5 prime UTR variant)	UACA-related disorder	GLikely benign
Select item 3034270	NM_018003.4(UACA):c.2801C>T (p.Ser934Leu)	UACA (S921L +1 more)	Single nucleotide variant (missense variant)	UACA-related disorder	GBenign
Select item 3033276	NM_018003.4(UACA):c.2784C>T (p.His928=)	UACA	Single nucleotide variant (synonymous variant)	UACA-related disorder	GLikely benign
Select item 2598702	NM_018003.4(UACA):c.259A>G (p.Ile87Val)	UACA (I87V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549552	NM_018003.4(UACA):c.2762A>T (p.Glu921Val)	UACA (E908V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547338	NM_018003.4(UACA):c.3893C>T (p.Thr1298Ile)	UACA (T1285I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543910	NM_018003.4(UACA):c.206G>C (p.Arg69Thr)	UACA (R56T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533748	NM_018003.4(UACA):c.3772T>C (p.Cys1258Arg)	UACA (C1245R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532868	NM_018003.4(UACA):c.2618A>G (p.Asn873Ser)	UACA (N873S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522210	NM_018003.4(UACA):c.3913A>G (p.Arg1305Gly)	UACA (R1305G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517418	NM_018003.4(UACA):c.4094C>G (p.Ser1365Cys)	UACA (S1365C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509564	NM_018003.4(UACA):c.27G>C (p.Arg9Ser)	LOC130057444, UACA (R9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2472170	NM_018003.4(UACA):c.3206A>T (p.Asn1069Ile)	UACA (N1056I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471786	NM_018003.4(UACA):c.763G>C (p.Ala255Pro)	UACA (A255P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466495	NM_018003.4(UACA):c.2669T>C (p.Phe890Ser)	UACA (F890S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461637	NM_018003.4(UACA):c.400G>A (p.Gly134Arg)	UACA (G121R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461331	NM_018003.4(UACA):c.3137A>G (p.Asp1046Gly)	UACA (D1033G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411219	NM_018003.4(UACA):c.1115G>T (p.Arg372Ile)	UACA (R372I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410118	NM_018003.4(UACA):c.2392C>T (p.Arg798Cys)	UACA (R798C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406657	NM_018003.4(UACA):c.2033T>C (p.Leu678Pro)	UACA (L678P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400559	NM_018003.4(UACA):c.3997C>G (p.Gln1333Glu)	UACA (Q1333E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384920	NM_018003.4(UACA):c.3494C>A (p.Pro1165His)	UACA (P1152H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384010	NM_018003.4(UACA):c.1289T>C (p.Leu430Ser)	UACA (L417S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382678	NM_018003.4(UACA):c.3557G>A (p.Ser1186Asn)	UACA (S1186N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380811	NM_018003.4(UACA):c.1769G>A (p.Arg590Gln)	UACA (R590Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378438	NM_018003.4(UACA):c.106G>A (p.Asp36Asn)	UACA (D23N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366142	NM_018003.4(UACA):c.2527G>A (p.Ala843Thr)	UACA (A830T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362871	NM_018003.4(UACA):c.2044G>C (p.Val682Leu)	UACA (V669L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349409	NM_018003.4(UACA):c.3758A>C (p.Lys1253Thr)	UACA (K1253T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348433	NM_018003.4(UACA):c.1357T>G (p.Cys453Gly)	UACA (C453G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344154	NM_018003.4(UACA):c.667G>C (p.Gly223Arg)	UACA (G223R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341276	NM_018003.4(UACA):c.2569A>G (p.Asn857Asp)	UACA (N844D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340419	NM_018003.4(UACA):c.2378G>A (p.Ser793Asn)	UACA (S793N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340202	NM_018003.4(UACA):c.691G>A (p.Ala231Thr)	UACA (A218T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336120	NM_018003.4(UACA):c.238A>T (p.Asn80Tyr)	UACA (N67Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335414	NM_018003.4(UACA):c.2327C>T (p.Thr776Ile)	UACA (T776I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331571	NM_018003.4(UACA):c.2933A>C (p.Gln978Pro)	UACA (Q965P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306353	NM_018003.4(UACA):c.3230A>G (p.Gln1077Arg)	UACA (Q1064R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290671	NM_018003.4(UACA):c.1706A>G (p.Gln569Arg)	UACA (Q556R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275602	NM_018003.4(UACA):c.1274C>T (p.Pro425Leu)	UACA (P412L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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