"GeneDx"[submitter] AND "TRIO"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 733

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59604	GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1	ANKH, BASP1 +142 more	Copy number loss	See cases	GPathogenic
Select item 144888	GRCh38/hg38 5p15.2(chr5:13802199-14153452)x3	DNAH5, LOC126807318 +11 more	Copy number gain	See cases	GBenign/Likely benign
Select item 57956	GRCh38/hg38 5p15.2(chr5:13829252-14168792)x3	DNAH5, LOC126807318 +13 more	Copy number gain	See cases	GUncertain significance
Select item 1200733	NM_007118.4(TRIO):c.-21G>A	TRIO	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1200872	NM_007118.4(TRIO):c.33C>T (p.Pro11=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 785114	NM_007118.4(TRIO):c.34G>A (p.Ala12Thr)	TRIO (A12T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 501649	NM_007118.4(TRIO):c.41C>T (p.Ser14Phe)	TRIO (S14F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1242140	NM_007118.4(TRIO):c.44C>T (p.Ser15Phe)	TRIO (S15F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2446156	NM_007118.4(TRIO):c.60_71dup (p.Ala24_Gly25insAlaSerAlaAla)	TRIO	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2663689	NM_007118.4(TRIO):c.55_56delinsTT (p.Ala19Leu)	TRIO (A19L)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3372926	NM_007118.4(TRIO):c.66C>A (p.Ser22Arg)	TRIO (S22R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 714992	NM_007118.4(TRIO):c.67G>A (p.Ala23Thr)	TRIO (A23T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1212128	NM_007118.4(TRIO):c.77C>A (p.Ser26Ter)	TRIO (S26*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2430915	NM_007118.4(TRIO):c.143C>T (p.Ala48Val)	LOC129993690, TRIO (A48V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1205004	NM_007118.4(TRIO):c.157+142C>T	LOC129993690, TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1804429	NM_007118.4(TRIO):c.163C>T (p.Arg55Ter)	TRIO (R55*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 770908	NM_007118.4(TRIO):c.171C>T (p.Asn57=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 3253503	NM_007118.4(TRIO):c.180G>A (p.Met60Ile)	TRIO (M60I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305796	NM_007118.4(TRIO):c.181A>C (p.Lys61Gln)	TRIO (K61Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1302808	NM_007118.4(TRIO):c.202A>G (p.Ile68Val)	TRIO (I68V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2571703	NM_007118.4(TRIO):c.217G>A (p.Val73Ile)	TRIO (V73I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1302058	NM_007118.4(TRIO):c.232+28A>C	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235933	NM_007118.4(TRIO):c.232+33A>G	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223063	NM_007118.4(TRIO):c.232+47A>G	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270679	NM_007118.4(TRIO):c.232+123T>C	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179402	NM_007118.4(TRIO):c.233-292T>G	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241645	NM_007118.4(TRIO):c.233-147C>T	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260415	NM_007118.4(TRIO):c.233-46C>A	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369012	NM_007118.4(TRIO):c.277C>A (p.Arg93Ser)	TRIO (R93S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574967	NM_007118.4(TRIO):c.338G>T (p.Cys113Phe)	TRIO (C113F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 790010	NM_007118.4(TRIO):c.347+3A>G	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1216029	NM_007118.4(TRIO):c.348-178C>T	TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3375658	NM_007118.4(TRIO):c.374C>A (p.Thr125Lys)	TRIO (T125K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1271170	NM_007118.4(TRIO):c.540+12C>T	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189091	NM_007118.4(TRIO):c.540+126T>C	TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294551	NM_007118.4(TRIO):c.541-237G>A	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258024	NM_007118.4(TRIO):c.541-136G>A	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 735146	NM_007118.4(TRIO):c.558A>G (p.Leu186=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1181056	NM_007118.4(TRIO):c.586T>G (p.Ser196Ala)	TRIO (S196A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365486	NM_007118.4(TRIO):c.608A>T (p.Asp203Val)	TRIO (D203V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2442583	NM_007118.4(TRIO):c.630C>G (p.His210Gln)	TRIO (H210Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252488	NM_007118.4(TRIO):c.718A>G (p.Ile240Val)	TRIO (I240V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501429	NM_007118.4(TRIO):c.753G>C (p.Glu251Asp)	TRIO (E251D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2505743	NM_007118.4(TRIO):c.757G>A (p.Ala253Thr)	TRIO (A253T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369001	NM_007118.4(TRIO):c.776A>G (p.Glu259Gly)	TRIO (E259G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695640	NM_007118.4(TRIO):c.806A>G (p.Lys269Arg)	TRIO (K269R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1312764	NM_007118.4(TRIO):c.955C>T (p.His319Tyr)	TRIO (H319Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 732721	NM_007118.4(TRIO):c.960G>A (p.Ser320=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1222688	NM_007118.4(TRIO):c.975G>A (p.Leu325=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1263258	NM_007118.4(TRIO):c.1053+253G>A	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225158	NM_007118.4(TRIO):c.1053+277T>C	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192068	NM_007118.4(TRIO):c.1054-52C>T	TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211936	NM_007118.4(TRIO):c.1054-25C>T	TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734556	NM_007118.4(TRIO):c.1054-7C>T	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3343874	NM_007118.4(TRIO):c.1072C>T (p.His358Tyr)	TRIO (H358Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707856	NM_007118.4(TRIO):c.1076A>G (p.Asn359Ser)	TRIO (N359S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1242405	NM_007118.4(TRIO):c.1176+102G>A	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190465	NM_007118.4(TRIO):c.1176+115G>T	TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217177	NM_007118.4(TRIO):c.1177-280C>G	TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1810717	NM_007118.4(TRIO):c.1179C>G (p.Asn393Lys)	TRIO (N393K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 770715	NM_007118.4(TRIO):c.1179C>T (p.Asn393=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 715714	NM_007118.4(TRIO):c.1209G>A (p.Ser403=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 736954	NM_007118.4(TRIO):c.1217A>G (p.Asn406Ser)	TRIO (N406S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1309063	NM_007118.4(TRIO):c.1270A>G (p.Ser424Gly)	TRIO (S424G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2507133	NM_007118.4(TRIO):c.1294G>A (p.Ala432Thr)	TRIO (A432T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368379	NM_007118.4(TRIO):c.1319G>T (p.Arg440Leu)	TRIO (R440L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1064568	NM_007118.4(TRIO):c.1319G>A (p.Arg440Gln)	TRIO (R440Q)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GUncertain significance
Select item 1712627	NM_007118.4(TRIO):c.1325C>T (p.Thr442Ile)	TRIO (T442I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1878879	NM_007118.4(TRIO):c.1346T>A (p.Ile449Asn)	TRIO (I449N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662482	NM_007118.4(TRIO):c.1352A>T (p.His451Leu)	TRIO (H451L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343416	NM_007118.4(TRIO):c.1362del (p.Glu455fs)	TRIO (E455fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2430454	NM_007118.4(TRIO):c.1368G>A (p.Lys456=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 1203991	NM_007118.4(TRIO):c.1369-221G>A	TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207858	NM_007118.4(TRIO):c.1369-127A>G	TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1695887	NM_007118.4(TRIO):c.1404C>G (p.Cys468Trp)	TRIO (C468W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365342	NM_007118.4(TRIO):c.1478A>G (p.His493Arg)	TRIO (H493R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303738	NM_007118.4(TRIO):c.1486C>G (p.Leu496Val)	TRIO (L496V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1202524	NM_007118.4(TRIO):c.1500+112C>T	TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199707	NM_007118.4(TRIO):c.1500+165A>G	TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225757	NM_007118.4(TRIO):c.1501-344G>T	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283212	NM_007118.4(TRIO):c.1501-242T>C	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253163	NM_007118.4(TRIO):c.1501-174A>G	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261789	NM_007118.4(TRIO):c.1521G>A (p.Ser507=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1191917	NM_007118.4(TRIO):c.1563C>T (p.Ser521=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1254167	NM_007118.4(TRIO):c.1582G>A (p.Ala528Thr)	TRIO (A528T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580501	NM_007118.4(TRIO):c.1583C>T (p.Ala528Val)	TRIO (A528V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2136160	NM_007118.4(TRIO):c.1600G>A (p.Val534Met)	TRIO (V534M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1678861	NM_007118.4(TRIO):c.1607A>T (p.His536Leu)	TRIO (H536L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1197185	NM_007118.4(TRIO):c.1626C>T (p.His542=)	TRIO	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1315411	NM_007118.4(TRIO):c.1630G>T (p.Val544Leu)	TRIO (V544L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1194649	NM_007118.4(TRIO):c.1668A>G (p.Gln556=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1209402	NM_007118.4(TRIO):c.1722C>T (p.Asp574=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1180374	NM_007118.4(TRIO):c.1731+156G>A	TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209251	NM_007118.4(TRIO):c.1731+304del	TRIO	Deletion (intron variant)	not provided	GLikely benign
Select item 1258857	NM_007118.4(TRIO):c.1732-123del	TRIO	Deletion (intron variant)	not provided	GBenign
Select item 445435	NM_007118.4(TRIO):c.1732-18A>G	TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213112	NM_007118.4(TRIO):c.1756G>A (p.Gly586Arg)	TRIO (G586R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1247427	NM_007118.4(TRIO):c.1785T>C (p.Gly595=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2431000	NM_007118.4(TRIO):c.1790G>A (p.Gly597Glu)	TRIO (G597E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342995	NM_007118.4(TRIO):c.1807G>A (p.Ala603Thr)	TRIO (A603T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 8