TRIO[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 59603	GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1	LOC129993721, LOC129993722 +334 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 153385	GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1	LOC126807306, LOC126807307 +304 more	Copy number loss	See cases	GPathogenic
Select item 148055	GRCh38/hg38 5p15.31-15.2(chr5:8824306-14246099)x1	ANKRD33B, ATPSCKMT +113 more	Copy number loss	See cases	GPathogenic
Select item 147752	GRCh38/hg38 5p15.2-15.1(chr5:10212880-16770474)x3	ANKH, ANKRD33B +156 more	Copy number gain	See cases	GPathogenic
Select item 149185	GRCh38/hg38 5p15.2(chr5:11042340-14796203)x1	ANKH, CTNND2 +65 more	Copy number loss	See cases	GUncertain significance
Select item 146802	GRCh38/hg38 5p15.2-15.1(chr5:12572563-17965988)x1	ANKH, BASP1 +123 more	Copy number loss	See cases	GPathogenic
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 153308	GRCh38/hg38 5p15.2(chr5:13790490-14186529)x4	DNAH5, LOC126807318 +13 more	Copy number gain	See cases	GUncertain significance
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 147952	GRCh38/hg38 5p15.2(chr5:13846935-14246099)x3	DNAH5, LOC126807318 +20 more	Copy number gain	See cases	GBenign
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)	TRIO-related disorder +2 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 +2 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)	TRIO-related disorder +2 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 2655301	NM_007118.4(TRIO):c.120C>T (p.Ala40=)	LOC129993690, TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1685184	NM_007118.4(TRIO):c.131C>T (p.Ala44Val)	LOC129993690, TRIO (A44V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1809640	NM_007118.4(TRIO):c.157+3G>A	LOC129993690, TRIO	Single nucleotide variant (intron variant)	not provided	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)	TRIO-related disorder +2 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 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 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 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

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