TTC28[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329847	NM_001145418.2(TTC28):c.4204G>A (p.Ala1402Thr)	TTC28 (A1284T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284803	NM_001145418.2(TTC28):c.4181G>A (p.Arg1394His)	TTC28 (R1276H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354658	NM_001145418.2(TTC28):c.4172C>T (p.Pro1391Leu)	TTC28 (P1273L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716253	NM_001145418.2(TTC28):c.4141C>G (p.Leu1381Val)	TTC28 (L1381V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3184239	NM_001145418.2(TTC28):c.4129G>A (p.Gly1377Arg)	TTC28 (G1377R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395140	NM_001145418.2(TTC28):c.4118C>T (p.Pro1373Leu)	TTC28 (P1373L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401203	NM_001145418.2(TTC28):c.4091C>T (p.Thr1364Met)	TTC28 (T1364M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473828	NM_001145418.2(TTC28):c.4057A>C (p.Asn1353His)	TTC28 (N1353H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358886	NM_001145418.2(TTC28):c.4054C>T (p.Arg1352Cys)	TTC28 (R1352C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209503	NM_001145418.2(TTC28):c.4051C>T (p.Arg1351Cys)	TTC28 (R1233C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184238	NM_001145418.2(TTC28):c.4042C>T (p.Arg1348Trp)	TTC28 (R1348W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303884	NM_001145418.2(TTC28):c.4039C>G (p.Leu1347Val)	TTC28 (L1229V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329835	NM_001145418.2(TTC28):c.4031C>T (p.Thr1344Ile)	TTC28 (T1344I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653036	NM_001145418.2(TTC28):c.4017G>A (p.Ser1339=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3329830	NM_001145418.2(TTC28):c.4016C>T (p.Ser1339Leu)	TTC28 (S1221L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467521	NM_001145418.2(TTC28):c.3994G>A (p.Glu1332Lys)	TTC28 (E1332K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329840	NM_001145418.2(TTC28):c.3950A>T (p.Glu1317Val)	TTC28 (E1317V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184237	NM_001145418.2(TTC28):c.3899G>A (p.Arg1300Gln)	TTC28 (R1182Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184235	NM_001145418.2(TTC28):c.3898C>T (p.Arg1300Trp)	TTC28 (R1182W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351037	NM_001145418.2(TTC28):c.3865G>A (p.Gly1289Ser)	TTC28 (G1171S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184234	NM_001145418.2(TTC28):c.3821G>C (p.Ser1274Thr)	TTC28 (S1156T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258100	NM_001145418.2(TTC28):c.3613G>A (p.Val1205Met)	TTC28 (V1205M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696713	NM_001145418.2(TTC28):c.3536T>C (p.Leu1179Pro)	TTC28 (L1061P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032467	NM_001145418.2(TTC28):c.3375C>T (p.Leu1125=)	TTC28	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 3329829	NM_001145418.2(TTC28):c.3362A>G (p.His1121Arg)	TTC28 (H1121R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315575	NM_001145418.2(TTC28):c.3335G>A (p.Arg1112Gln)	TTC28 (R1112Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234351	NM_001145418.2(TTC28):c.3331G>A (p.Gly1111Ser)	TTC28 (G1111S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405319	NM_001145418.2(TTC28):c.3214G>A (p.Asp1072Asn)	TTC28 (D954N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653037	NM_001145418.2(TTC28):c.3165G>A (p.Arg1055=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2460407	NM_001145418.2(TTC28):c.3149T>A (p.Leu1050Gln)	TTC28 (L1050Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460406	NM_001145418.2(TTC28):c.3133C>A (p.Leu1045Met)	TTC28 (L1045M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529362	NM_001145418.2(TTC28):c.3034G>A (p.Glu1012Lys)	TTC28 (E894K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411140	NM_001145418.2(TTC28):c.3016G>A (p.Val1006Ile)	TTC28 (V888I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051477	NM_001145418.2(TTC28):c.3015C>T (p.Gly1005=)	TTC28	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 3184232	NM_001145418.2(TTC28):c.3005G>A (p.Gly1002Asp)	TTC28 (G1002D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038279	NM_001145418.2(TTC28):c.2994C>T (p.Asp998=)	TTC28	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GBenign
Select item 3184231	NM_001145418.2(TTC28):c.2956A>G (p.Ile986Val)	TTC28 (I868V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329834	NM_001145418.2(TTC28):c.2917T>C (p.Tyr973His)	TTC28 (Y973H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380957	NM_001145418.2(TTC28):c.2864A>G (p.Asn955Ser)	TTC28 (N955S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033131	NM_001145418.2(TTC28):c.2829G>A (p.Arg943=)	TTC28	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GBenign
Select item 3045306	NM_001145418.2(TTC28):c.2779C>T (p.His927Tyr)	TTC28 (H809Y +1 more)	Single nucleotide variant (missense variant)	TTC28-related disorder	GLikely benign
Select item 3184230	NM_001145418.2(TTC28):c.2761C>T (p.Arg921Trp)	TTC28 (R803W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771056	NM_001145418.2(TTC28):c.2718C>T (p.Val906=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2309707	NM_001145418.2(TTC28):c.2699A>G (p.Tyr900Cys)	TTC28 (Y782C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294876	NM_001145418.2(TTC28):c.2639A>G (p.Tyr880Cys)	TTC28 (Y762C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334389	NM_001145418.2(TTC28):c.2630G>T (p.Gly877Val)	TTC28 (G759V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184229	NM_001145418.2(TTC28):c.2628G>C (p.Arg876Ser)	TTC28 (R876S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217528	NM_001145418.2(TTC28):c.2623G>C (p.Asp875His)	TTC28 (D875H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718917	NM_001145418.2(TTC28):c.2580A>G (p.Gln860=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3184227	NM_001145418.2(TTC28):c.2549T>C (p.Met850Thr)	TTC28 (M850T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048851	NM_001145418.2(TTC28):c.2478G>A (p.Lys826=)	TTC28	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 2310154	NM_001145418.2(TTC28):c.2465A>G (p.Asp822Gly)	TTC28 (D704G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393991	NM_001145418.2(TTC28):c.2462T>G (p.Leu821Arg)	TTC28 (L703R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184226	NM_001145418.2(TTC28):c.2413A>C (p.Met805Leu)	TTC28 (M687L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283396	NM_001145418.2(TTC28):c.2407G>A (p.Val803Ile)	TTC28 (V685I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184225	NM_001145418.2(TTC28):c.2392G>C (p.Gly798Arg)	TTC28 (G680R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226773	NM_001145418.2(TTC28):c.2390A>C (p.His797Pro)	TTC28 (H797P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708994	NM_001145418.2(TTC28):c.2382C>T (p.Cys794=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2618669	NM_001145418.2(TTC28):c.2375G>C (p.Gly792Ala)	TTC28 (G792A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184223	NM_001145418.2(TTC28):c.2337G>C (p.Gln779His)	TTC28 (Q779H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269876	NM_001145418.2(TTC28):c.2306A>G (p.Lys769Arg)	TTC28 (K651R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787607	NM_001145418.2(TTC28):c.2253A>G (p.Arg751=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3184222	NM_001145418.2(TTC28):c.2233C>T (p.His745Tyr)	TTC28 (H627Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383607	NM_001145418.2(TTC28):c.2208C>A (p.Phe736Leu)	TTC28 (F618L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457159	NM_001145418.2(TTC28):c.2150T>A (p.Leu717Gln)	TTC28 (L717Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253800	NM_001145418.2(TTC28):c.1928C>T (p.Ala643Val)	TTC28 (A643V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184221	NM_001145418.2(TTC28):c.1876G>A (p.Asp626Asn)	TTC28 (D508N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367309	NM_001145418.2(TTC28):c.1852G>C (p.Glu618Gln)	TTC28 (E500Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635079	NM_001145418.2(TTC28):c.1729dup (p.Tyr577fs)	TTC28 (Y459fs +1 more)	Duplication (frameshift variant)	TTC28-related disorder	GUncertain significance
Select item 2329526	NM_001145418.2(TTC28):c.1715G>A (p.Arg572Gln)	TTC28 (R572Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184220	NM_001145418.2(TTC28):c.1670A>G (p.His557Arg)	TTC28 (H439R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290129	NM_001145418.2(TTC28):c.1648C>T (p.Arg550Cys)	TTC28 (R432C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278905	NM_001145418.2(TTC28):c.1615C>G (p.Gln539Glu)	TTC28 (Q539E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050967	NM_001145418.2(TTC28):c.1590C>T (p.Tyr530=)	TTC28	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 2234750	NM_001145418.2(TTC28):c.1544G>A (p.Arg515His)	TTC28 (R397H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393354	NM_001145418.2(TTC28):c.1539G>C (p.Gln513His)	TTC28 (Q395H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268554	NM_001145418.2(TTC28):c.1493A>G (p.Lys498Arg)	TTC28 (K380R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272842	NM_001145418.2(TTC28):c.1478C>A (p.Ala493Glu)	TTC28 (A493E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356587	NM_001145418.2(TTC28):c.1409G>A (p.Arg470Gln)	TTC28 (R352Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362257	NM_001145418.2(TTC28):c.1408C>T (p.Arg470Trp)	TTC28 (R352W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218996	NM_001145418.2(TTC28):c.1351G>A (p.Glu451Lys)	TTC28 (E333K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329837	NM_001145418.2(TTC28):c.1350G>T (p.Leu450Phe)	TTC28 (L332F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288506	NM_001145418.2(TTC28):c.1291G>C (p.Ala431Pro)	TTC28 (A313P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311034	NM_001145418.2(TTC28):c.1220G>A (p.Arg407Gln)	TTC28 (R407Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464772	NM_001145418.2(TTC28):c.1211A>G (p.Tyr404Cys)	TTC28 (Y286C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184216	NM_001145418.2(TTC28):c.1169A>G (p.Lys390Arg)	TTC28 (K272R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329839	NM_001145418.2(TTC28):c.1088T>C (p.Val363Ala)	TTC28 (V363A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241663	NM_001145418.2(TTC28):c.1011C>A (p.His337Gln)	TTC28 (H337Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038756	NM_001145418.2(TTC28):c.1005C>T (p.Ala335=)	TTC28	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 790235	NM_001145418.2(TTC28):c.1000C>T (p.Leu334=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2369055	NM_001145418.2(TTC28):c.995A>G (p.Asn332Ser)	TTC28 (N214S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046638	NM_001145418.2(TTC28):c.966C>T (p.His322=)	TTC28	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 2408981	NM_001145418.2(TTC28):c.935C>T (p.Ala312Val)	TTC28 (A194V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732728	NM_001145418.2(TTC28):c.891C>T (p.His297=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2603450	NM_001145418.2(TTC28):c.866A>G (p.Asn289Ser)	TTC28 (N171S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184253	NM_001145418.2(TTC28):c.784G>C (p.Asp262His)	TTC28 (D262H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329845	NM_001145418.2(TTC28):c.777G>C (p.Gln259His)	TTC28 (Q259H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718805	NM_001145418.2(TTC28):c.663C>T (p.Ala221=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3184249	NM_001145418.2(TTC28):c.631C>T (p.His211Tyr)	TTC28 (H93Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653038	NM_001145418.2(TTC28):c.549T>C (p.Tyr183=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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