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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3026465	NM_007118.4(TRIO):c.-5C>T	TRIO	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2509359	NM_007118.4(TRIO):c.13A>G (p.Ser5Gly)	TRIO (S5G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2690271	NM_007118.4(TRIO):c.22GCC[4] (p.Ala10_Pro11insAla)	TRIO	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3182859	NM_007118.4(TRIO):c.22G>A (p.Ala8Thr)	TRIO (A8T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182861	NM_007118.4(TRIO):c.23C>G (p.Ala8Gly)	TRIO (A8G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182865	NM_007118.4(TRIO):c.40_57del (p.Ser14_Ala19del)	TRIO	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
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 2429448	NM_007118.4(TRIO):c.34G>T (p.Ala12Ser)	TRIO (A12S)	Single nucleotide variant (missense variant +1 more)	Developmental delay	GUncertain significance
Select item 785114	NM_007118.4(TRIO):c.34G>A (p.Ala12Thr)	TRIO (A12T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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)	Inborn genetic diseases +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 740706	NM_007118.4(TRIO):c.48C>A (p.Gly16=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1342650	NM_007118.4(TRIO):c.53C>G (p.Ala18Gly)	TRIO (A18G)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	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 2534706	NM_007118.4(TRIO):c.58G>A (p.Ala20Thr)	TRIO (A20T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2096636	NM_007118.4(TRIO):c.59C>T (p.Ala20Val)	TRIO (A20V)	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 932104	NM_007118.4(TRIO):c.80G>T (p.Gly27Val)	TRIO (G27V)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	GUncertain significance
Select item 741235	NM_007118.4(TRIO):c.90C>T (p.Gly30=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2614370	NM_007118.4(TRIO):c.102G>C (p.Glu34Asp)	TRIO (E34D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255656	NM_007118.4(TRIO):c.106G>A (p.Ala36Thr)	TRIO (A36T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3328971	NM_007118.4(TRIO):c.169A>C (p.Asn57His)	TRIO (N57H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3182857	NM_007118.4(TRIO):c.172G>A (p.Asp58Asn)	TRIO (D58N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 985617	NM_007118.4(TRIO):c.179_183del (p.Met60fs)	TRIO (M60fs)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
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 3345835	NM_007118.4(TRIO):c.220G>T (p.Ala74Ser)	TRIO (A74S)	Single nucleotide variant (missense variant +1 more)	TRIO-related disorder	GUncertain significance
Select item 3337689	NM_007118.4(TRIO):c.232+1G>A	TRIO	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 1695120	NM_007118.4(TRIO):c.246A>G (p.Lys82=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1804114	NM_007118.4(TRIO):c.298C>T (p.Arg100Ter)	TRIO (R100*)	Single nucleotide variant (nonsense +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 873429	NM_007118.4(TRIO):c.298del (p.Arg100fs)	TRIO (R100fs)	Deletion (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 740526	NM_007118.4(TRIO):c.321C>G (p.Leu107=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 733994	NM_007118.4(TRIO):c.324T>C (p.Ile108=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2655302	NM_007118.4(TRIO):c.348C>T (p.Ser116=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2437281	NM_007118.4(TRIO):c.349G>A (p.Glu117Lys)	TRIO (E117K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339023	NM_007118.4(TRIO):c.365G>T (p.Arg122Leu)	TRIO (R122L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2437309	NM_007118.4(TRIO):c.365G>A (p.Arg122His)	TRIO (R122H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655303	NM_007118.4(TRIO):c.381C>T (p.Ile127=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2007788	NM_007118.4(TRIO):c.382G>A (p.Val128Met)	TRIO (V128M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 978144	NM_007118.4(TRIO):c.410C>T (p.Ser137Phe)	TRIO (S137F)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 916264	NM_007118.4(TRIO):c.521G>C (p.Ser174Thr)	TRIO (S174T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2681622	NM_007118.4(TRIO):c.533A>G (p.Glu178Gly)	TRIO (E178G)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 1690781	NM_007118.4(TRIO):c.540+9C>T	TRIO	Single nucleotide variant (intron variant)	See cases	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 1342271	NM_007118.4(TRIO):c.541-20G>A	TRIO	Single nucleotide variant (intron variant)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +2 more	GBenign
Select item 1675973	NM_007118.4(TRIO):c.543A>C (p.Thr181=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655304	NM_007118.4(TRIO):c.551T>G (p.Val184Gly)	TRIO (V184G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3182869	NM_007118.4(TRIO):c.553T>G (p.Ser185Ala)	TRIO (S185A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 872812	NM_007118.4(TRIO):c.560A>G (p.Glu187Gly)	TRIO (E187G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437312	NM_007118.4(TRIO):c.578T>C (p.Val193Ala)	TRIO (V193A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3036809	NM_007118.4(TRIO):c.630C>T (p.His210=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	TRIO-related disorder	GLikely benign
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 369657	NM_007118.4(TRIO):c.634G>T (p.Glu212Ter)	TRIO (E212*)	Single nucleotide variant (nonsense +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 976191	NM_007118.4(TRIO):c.651_652del (p.Arg217fs)	TRIO (R217fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 253082	NM_007118.4(TRIO):c.649A>T (p.Arg217Ter)	TRIO (R217*)	Single nucleotide variant (nonsense +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2627939	NM_007118.4(TRIO):c.652G>A (p.Val218Ile)	TRIO (V218I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 1679335	NM_007118.4(TRIO):c.704del (p.Glu235fs)	TRIO (E235fs)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	GLikely pathogenic
Select item 3033382	NM_007118.4(TRIO):c.713A>G (p.Gln238Arg)	TRIO (Q238R)	Single nucleotide variant (missense variant +1 more)	TRIO-related disorder	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 1709305	NM_007118.4(TRIO):c.757dup (p.Ala253fs)	TRIO (A253fs)	Duplication (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
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 3063948	NM_007118.4(TRIO):c.761G>A (p.Arg254Gln)	TRIO (R254Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1012727	NM_007118.4(TRIO):c.777A>C (p.Glu259Asp)	TRIO (E259D)	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 1683784	NM_007118.4(TRIO):c.838C>T (p.Gln280Ter)	TRIO (Q280*)	Single nucleotide variant (nonsense +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2280101	NM_007118.4(TRIO):c.839A>G (p.Gln280Arg)	TRIO (Q280R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3040791	NM_007118.4(TRIO):c.873C>T (p.Ser291=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	TRIO-related disorder	GLikely benign
Select item 2295501	NM_007118.4(TRIO):c.890C>T (p.Ser297Leu)	TRIO (S297L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1335572	NM_007118.4(TRIO):c.890C>A (p.Ser297Ter)	TRIO (S297*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1723415	NM_007118.4(TRIO):c.905C>T (p.Ala302Val)	TRIO (A302V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726158	NM_007118.4(TRIO):c.939C>T (p.Thr313=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1334569	NM_007118.4(TRIO):c.949C>T (p.Arg317Trp)	TRIO (R317W)	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 1335573	NM_007118.4(TRIO):c.968A>G (p.Gln323Arg)	TRIO (Q323R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 3026236	NM_007118.4(TRIO):c.994A>T (p.Arg332Trp)	TRIO (R332W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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