ClinVar for Gene (Select 23331) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329850	NM_001145418.2(TTC28):c.4291C>G (p.Leu1431Val)	TTC28, TTC28-AS1 (L1431V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329849	NM_001145418.2(TTC28):c.4646T>A (p.Ile1549Asn)	TTC28, TTC28-AS1 (I1431N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329848	NM_001145418.2(TTC28):c.7123A>G (p.Met2375Val)	TTC28, TTC28-AS1 (M2249V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3329846	NM_001145418.2(TTC28):c.7135C>G (p.Arg2379Gly)	TTC28, TTC28-AS1 (R2253G +3 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 3329844	NM_001145418.2(TTC28):c.4324T>G (p.Ser1442Ala)	TTC28, TTC28-AS1 (S1442A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329843	NM_001145418.2(TTC28):c.6940T>C (p.Ser2314Pro)	TTC28, TTC28-AS1 (S2188P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329842	NM_001145418.2(TTC28):c.5158C>A (p.Pro1720Thr)	TTC28, TTC28-AS1 (P1720T +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 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 3329838	NM_001145418.2(TTC28):c.6938A>C (p.Gln2313Pro)	TTC28, TTC28-AS1 (Q2187P +3 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 3329836	NM_001145418.2(TTC28):c.290A>G (p.Asn97Ser)	TTC28 (N97S)	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 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 3329833	NM_001145418.2(TTC28):c.214G>A (p.Gly72Arg)	TTC28 (G72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329832	NM_001145418.2(TTC28):c.358C>T (p.Leu120Phe)	TTC28 (L120F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329831	NM_001145418.2(TTC28):c.4295T>C (p.Ile1432Thr)	TTC28, TTC28-AS1 (I1432T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3329828	NM_001145418.2(TTC28):c.4375C>T (p.Arg1459Cys)	TTC28, TTC28-AS1 (R1341C +1 more)	Single nucleotide variant (missense variant +1 more)	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 3184252	NM_001145418.2(TTC28):c.7135C>T (p.Arg2379Trp)	TTC28, TTC28-AS1 (R2379W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184251	NM_001145418.2(TTC28):c.6667A>G (p.Lys2223Glu)	TTC28, TTC28-AS1 (K2105E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184250	NM_001145418.2(TTC28):c.6559G>T (p.Val2187Leu)	TTC28, TTC28-AS1 (V2187L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3184248	NM_001145418.2(TTC28):c.6058C>T (p.Arg2020Trp)	TTC28, TTC28-AS1 (R1894W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184247	NM_001145418.2(TTC28):c.5773C>T (p.Arg1925Trp)	TTC28, TTC28-AS1 (R1807W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184246	NM_001145418.2(TTC28):c.5240A>G (p.His1747Arg)	TTC28, TTC28-AS1 (H1629R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184245	NM_001145418.2(TTC28):c.5105C>T (p.Pro1702Leu)	TTC28, TTC28-AS1 (P1584L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184244	NM_001145418.2(TTC28):c.4445T>C (p.Met1482Thr)	TTC28, TTC28-AS1 (M1364T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184243	NM_001145418.2(TTC28):c.4429T>G (p.Ser1477Ala)	TTC28, TTC28-AS1 (S1359A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184242	NM_001145418.2(TTC28):c.4409G>A (p.Arg1470Gln)	TTC28, TTC28-AS1 (R1470Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184241	NM_001145418.2(TTC28):c.4250G>A (p.Arg1417Gln)	TTC28, TTC28-AS1 (R1299Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 3184228	NM_001145418.2(TTC28):c.259G>A (p.Val87Ile)	TTC28 (V87I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 3184224	NM_001145418.2(TTC28):c.235G>A (p.Val79Ile)	TTC28 (V79I)	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 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 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 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 3184218	NM_001145418.2(TTC28):c.152C>T (p.Pro51Leu)	TTC28 (P51L)	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 3062462	GRCh37/hg19 22q12.1(chr22:28802477-29085473)x3	CHEK2, TTC28	Copy number gain	not specified	GUncertain significance
Select item 3056496	NM_001145418.2(TTC28):c.7271C>G (p.Ala2424Gly)	TTC28, TTC28-AS1 (A2298G +3 more)	Single nucleotide variant (missense variant)	TTC28-related disorder	GBenign
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 3050967	NM_001145418.2(TTC28):c.1590C>T (p.Tyr530=)	TTC28	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 3050362	NM_001145418.2(TTC28):c.5552G>A (p.Arg1851Gln)	TTC28, TTC28-AS1 (R1733Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 3048180	NM_001145418.2(TTC28):c.4719C>T (p.Phe1573=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
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 3046441	NM_001145418.2(TTC28):c.5205G>A (p.Pro1735=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
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 3041446	NM_001145418.2(TTC28):c.7197A>G (p.Pro2399=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 3041167	NM_001145418.2(TTC28):c.5437C>T (p.Arg1813Trp)	TTC28, TTC28-AS1 (R1695W +1 more)	Single nucleotide variant (missense variant)	TTC28-related disorder	GLikely benign
Select item 3040953	NM_001145418.2(TTC28):c.5688C>T (p.His1896=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 3040223	NM_001145418.2(TTC28):c.6816C>T (p.Pro2272=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
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 3038279	NM_001145418.2(TTC28):c.2994C>T (p.Asp998=)	TTC28	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GBenign
Select item 3037151	NM_001145418.2(TTC28):c.6393A>T (p.Ser2131=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GBenign
Select item 3033131	NM_001145418.2(TTC28):c.2829G>A (p.Arg943=)	TTC28	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GBenign
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 3031654	NM_001145418.2(TTC28):c.4319G>C (p.Ser1440Thr)	TTC28, TTC28-AS1 (S1322T +1 more)	Single nucleotide variant (missense variant +1 more)	TTC28-related disorder	GUncertain significance
Select item 3030448	NM_001145418.2(TTC28):c.4242C>T (p.Pro1414=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant +1 more)	TTC28-related disorder	GLikely benign
Select item 3029195	NM_001145418.2(TTC28):c.6174G>C (p.Gly2058=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 2685675	GRCh37/hg19 22q12.1(chr22:28802478-29038398)x1	TTC28	Copy number loss	not provided	GUncertain significance
Select item 2653038	NM_001145418.2(TTC28):c.549T>C (p.Tyr183=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653037	NM_001145418.2(TTC28):c.3165G>A (p.Arg1055=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653036	NM_001145418.2(TTC28):c.4017G>A (p.Ser1339=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2621398	NM_001145418.2(TTC28):c.6260C>A (p.Pro2087His)	TTC28, TTC28-AS1 (P1961H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2615479	NM_001145418.2(TTC28):c.5318A>G (p.Asn1773Ser)	TTC28, TTC28-AS1 (N1773S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2601640	NM_001145418.2(TTC28):c.6527C>A (p.Ala2176Glu)	TTC28, TTC28-AS1 (A2050E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599147	NM_001145418.2(TTC28):c.5228G>A (p.Arg1743Gln)	TTC28, TTC28-AS1 (R1625Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592381	NM_001145418.2(TTC28):c.6589G>A (p.Val2197Ile)	TTC28, TTC28-AS1 (V2189I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588991	NM_001145418.2(TTC28):c.4237G>A (p.Gly1413Ser)	TTC28, TTC28-AS1 (G1295S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569075	NM_001145418.2(TTC28):c.5771G>A (p.Arg1924Gln)	TTC28, TTC28-AS1 (R1806Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560759	NM_001145418.2(TTC28):c.5531C>G (p.Thr1844Arg)	TTC28, TTC28-AS1 (T1844R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548942	NM_001145418.2(TTC28):c.5952C>A (p.Ser1984Arg)	TTC28, TTC28-AS1 (S1858R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546729	NM_001145418.2(TTC28):c.5188G>C (p.Glu1730Gln)	TTC28, TTC28-AS1 (E1612Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535183	NM_001145418.2(TTC28):c.4279G>T (p.Gly1427Trp)	TTC28, TTC28-AS1 (G1427W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533074	NM_001145418.2(TTC28):c.5744T>G (p.Ile1915Ser)	TTC28, TTC28-AS1 (I1789S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531443	NM_001145418.2(TTC28):c.4751G>A (p.Arg1584Gln)	TTC28, TTC28-AS1 (R1466Q +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 2515023	NM_001145418.2(TTC28):c.94T>C (p.Ser32Pro)	TTC28 (S32P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510383	NM_001145418.2(TTC28):c.5329G>A (p.Gly1777Ser)	TTC28, TTC28-AS1 (G1659S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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