Related gene-specific medical variations for Gene (Select 7204) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3182885	NM_007118.4(TRIO):c.8288A>G (p.Asn2763Ser)	LOC126807323, TRIO (N2763S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182884	NM_007118.4(TRIO):c.8273C>T (p.Thr2758Met)	LOC126807323, TRIO (T2758M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3182883	NM_007118.4(TRIO):c.8126G>A (p.Cys2709Tyr)	LOC126807323, TRIO (C2709Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3066076	NM_007118.4(TRIO):c.8159G>A (p.Gly2720Asp)	LOC126807323, TRIO (G2720D)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 3065881	NM_007118.4(TRIO):c.2771G>A (p.Arg924His)	TRIO (R924H)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 3065200	NM_007118.4(TRIO):c.6397G>A (p.Glu2133Lys)	TRIO (E2133K)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 3064071	NM_007118.4(TRIO):c.5599G>A (p.Val1867Met)	TRIO (V1867M)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GUncertain significance
Select item 3062823	GRCh37/hg19 5p15.2(chr5:14300651-14379344)x1	TRIO	Copy number loss	not specified	GLikely pathogenic
Select item 3058768	NM_007118.4(TRIO):c.4860-6C>T	LOC126807322, TRIO	Single nucleotide variant (intron variant)	TRIO-related condition	GLikely benign
Select item 3032956	NM_007118.4(TRIO):c.8244C>T (p.Gly2748=)	LOC126807323, TRIO	Single nucleotide variant (synonymous variant +1 more)	TRIO-related condition	GLikely benign
Select item 2760767	NM_007118.4(TRIO):c.4892G>T (p.Gly1631Val)	LOC126807322, TRIO (G1631V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690272	NM_007118.4(TRIO):c.6910G>A (p.Gly2304Arg)	TRIO (G2304R)	Single nucleotide variant (missense variant +1 more)	not provided	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 2690270	NM_007118.4(TRIO):c.7031C>G (p.Pro2344Arg)	TRIO (P2344R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690269	NM_007118.4(TRIO):c.1226T>C (p.Val409Ala)	TRIO (V409A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655358	NM_007118.4(TRIO):c.8210+3G>T	LOC126807323, TRIO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2655357	NM_007118.4(TRIO):c.8079G>T (p.Glu2693Asp)	LOC126807323, TRIO (E2693D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655329	NM_007118.4(TRIO):c.4890C>T (p.Asp1630=)	LOC126807322, TRIO	Single nucleotide variant (synonymous variant +1 more)	TRIO-related condition +1 more	GLikely benign
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 2637725	NM_007118.4(TRIO):c.4951A>G (p.Ser1651Gly)	LOC126807322, TRIO (S1651G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2632342	NM_007118.4(TRIO):c.8074A>T (p.Ser2692Cys)	LOC126807323, TRIO (S2692C)	Single nucleotide variant (missense variant +1 more)	TRIO-related condition	GUncertain significance
Select item 2631881	NM_007118.4(TRIO):c.8021T>C (p.Leu2674Pro)	LOC126807323, TRIO (L2674P)	Single nucleotide variant (missense variant +1 more)	TRIO-related condition	GUncertain significance
Select item 2629383	NM_007118.4(TRIO):c.8027A>T (p.Asn2676Ile)	LOC126807323, TRIO (N2676I)	Single nucleotide variant (missense variant +1 more)	TRIO-related condition	GUncertain significance
Select item 2626872	NM_007118.4(TRIO):c.4649dup (p.Asp1551fs)	LOC126807321, TRIO (D1551fs)	Duplication (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 2616970	NM_007118.4(TRIO):c.4943C>T (p.Thr1648Met)	LOC126807322, TRIO (T1648M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2580903	NM_007118.4(TRIO):c.4716G>A (p.Lys1572=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 2580710	NM_007118.4(TRIO):c.8056G>A (p.Glu2686Lys)	LOC126807323, TRIO (E2686K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571753	NM_007118.4(TRIO):c.4615-10T>A	LOC126807321, TRIO	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2503435	NM_007118.4(TRIO):c.2638_2641dup (p.Leu881fs)	TRIO (L881fs)	Duplication (frameshift variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 2446225	NM_007118.4(TRIO):c.4883A>C (p.Gln1628Pro)	LOC126807322, TRIO (Q1628P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2442462	NM_007118.4(TRIO):c.8249C>T (p.Thr2750Ile)	LOC126807323, TRIO (T2750I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441634	NM_007118.4(TRIO):c.5003C>T (p.Thr1668Ile)	TRIO (T1668I)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 2437313	NM_007118.4(TRIO):c.2618A>G (p.Asp873Gly)	TRIO (D873G)	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 2437311	NM_007118.4(TRIO):c.8560G>A (p.Gly2854Ser)	TRIO (G2854S)	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 2437308	NM_007118.4(TRIO):c.7979G>A (p.Arg2660Gln)	TRIO (R2660Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437307	NM_007118.4(TRIO):c.6583G>A (p.Val2195Ile)	TRIO (V2195I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437306	NM_007118.4(TRIO):c.8231T>C (p.Leu2744Pro)	LOC126807323, TRIO (L2744P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437305	NM_007118.4(TRIO):c.3764C>T (p.Ser1255Leu)	TRIO (S1255L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437303	NM_007118.4(TRIO):c.9065A>G (p.Lys3022Arg)	TRIO (K3022R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437302	NM_007118.4(TRIO):c.1982G>A (p.Arg661Gln)	TRIO (R661Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437299	NM_007118.4(TRIO):c.4717G>T (p.Ala1573Ser)	TRIO (A1573S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437298	NM_007118.4(TRIO):c.5359G>C (p.Gly1787Arg)	TRIO (G1787R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437297	NM_007118.4(TRIO):c.5690G>A (p.Arg1897His)	TRIO (R1897H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437295	NM_007118.4(TRIO):c.4206G>A (p.Gly1402=)	TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2437294	NM_007118.4(TRIO):c.4426T>A (p.Phe1476Ile)	TRIO (F1476I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437293	NM_007118.4(TRIO):c.7618A>G (p.Thr2540Ala)	TRIO (T2540A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437292	NM_007118.4(TRIO):c.8399C>T (p.Ala2800Val)	TRIO (A2800V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437291	NM_007118.4(TRIO):c.1826G>T (p.Arg609Leu)	TRIO (R609L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437290	NM_007118.4(TRIO):c.1003A>G (p.Lys335Glu)	TRIO (K335E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437289	NM_007118.4(TRIO):c.2874+3A>G	TRIO	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2437288	NM_007118.4(TRIO):c.8909C>T (p.Ser2970Phe)	TRIO (S2970F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437287	NM_007118.4(TRIO):c.7475C>A (p.Ser2492Tyr)	TRIO (S2492Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437285	NM_007118.4(TRIO):c.4280A>G (p.Gln1427Arg)	TRIO (Q1427R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437283	NM_007118.4(TRIO):c.3373C>T (p.His1125Tyr)	TRIO (H1125Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437282	NM_007118.4(TRIO):c.6387+5A>G	TRIO	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2437280	NM_007118.4(TRIO):c.5150G>C (p.Cys1717Ser)	TRIO (C1717S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437279	NM_007118.4(TRIO):c.8875G>A (p.Ala2959Thr)	TRIO (A2959T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2437278	NM_007118.4(TRIO):c.7478C>T (p.Pro2493Leu)	TRIO (P2493L)	Single nucleotide variant (missense variant)	not provided	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 2429916	NM_007118.4(TRIO):c.5711C>T (p.Pro1904Leu)	TRIO (P1904L)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2429915	NM_007118.4(TRIO):c.7048C>A (p.Pro2350Thr)	TRIO (P2350T)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	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 2429330	NM_007118.4(TRIO):c.8162C>T (p.Pro2721Leu)	LOC126807323, TRIO (P2721L)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GBenign
Select item 2383937	NM_007118.4(TRIO):c.8228C>A (p.Thr2743Lys)	LOC126807323, TRIO (T2743K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2302642	NM_007118.4(TRIO):c.4954G>A (p.Asp1652Asn)	LOC126807322, TRIO (D1652N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286409	NM_007118.4(TRIO):c.8332+6C>T	LOC126807323, TRIO	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 2258215	NM_007118.4(TRIO):c.4891G>A (p.Gly1631Ser)	LOC126807322, TRIO (G1631S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254796	NM_007118.4(TRIO):c.8219G>A (p.Gly2740Glu)	LOC126807323, TRIO (G2740E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2113568	NM_007118.4(TRIO):c.4653C>G (p.Asp1551Glu)	LOC126807321, TRIO (D1551E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2092567	NM_007118.4(TRIO):c.4878C>A (p.Asp1626Glu)	LOC126807322, TRIO (D1626E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1878784	NM_007118.4(TRIO):c.4640A>T (p.His1547Leu)	LOC126807321, TRIO (H1547L)	Single nucleotide variant (missense variant +1 more)	not provided	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 1700221	NM_007118.4(TRIO):c.1863C>G (p.Tyr621Ter)	TRIO (Y621*)	Single nucleotide variant (nonsense +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
Select item 1700181	NM_007118.4(TRIO):c.4554_4557del (p.Phe1518fs)	TRIO (F1518fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental delay	GLikely pathogenic
Select item 1696746	NM_007118.4(TRIO):c.2046+6G>T	TRIO	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GUncertain significance
Select item 1696579	NM_007118.4(TRIO):c.7250G>A (p.Ser2417Asn)	TRIO (S2417N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GUncertain significance
Select item 1696569	NM_007118.4(TRIO):c.8686C>A (p.Leu2896Met)	TRIO (L2896M)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GUncertain significance
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 1683889	NM_007118.4(TRIO):c.4918A>G (p.Ile1640Val)	LOC126807322, TRIO (I1640V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679620	NM_007118.4(TRIO):c.4978C>A (p.Leu1660Met)	TRIO (L1660M)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 1675286	NM_007118.4(TRIO):c.4931C>T (p.Thr1644Met)	LOC126807322, TRIO (T1644M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1345030	Single allele	TRIO	Deletion	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GLikely pathogenic
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 1342618	NM_007118.4(TRIO):c.8019+6T>G	TRIO	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GUncertain significance
Select item 1330242	NM_007118.4(TRIO):c.1013A>G (p.Gln338Arg)	TRIO (Q338R)	Single nucleotide variant (missense variant +1 more)	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome +1 more	GUncertain significance
Select item 1328709	NM_007118.4(TRIO):c.8309C>T (p.Ser2770Leu)	LOC126807323, TRIO (S2770L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1321560	NM_007118.4(TRIO):c.4921G>A (p.Ala1641Thr)	LOC126807322, TRIO (A1641T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1309783	NM_007118.4(TRIO):c.4874T>C (p.Leu1625Pro)	LOC126807322, TRIO (L1625P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305368	NM_007118.4(TRIO):c.8131C>T (p.Arg2711Cys)	LOC126807323, TRIO (R2711C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1281876	NM_007118.4(TRIO):c.8020-156A>G	LOC126807323, TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279326	NM_007118.4(TRIO):c.8310G>A (p.Ser2770=)	LOC126807323, TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1274507	NM_007118.4(TRIO):c.8211-4G>A	LOC126807323, TRIO	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly +1 more	GBenign
Select item 1267690	NM_007118.4(TRIO):c.4615-117T>C	LOC126807321, TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259207	NM_007118.4(TRIO):c.8293A>G (p.Met2765Val)	LOC126807323, TRIO (M2765V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1258339	NM_007118.4(TRIO):c.8048-40C>T	LOC126807323, TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257592	NM_007118.4(TRIO):c.8210+65G>A	LOC126807323, TRIO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254501	NM_007118.4(TRIO):c.8046C>T (p.Asp2682=)	LOC126807323, TRIO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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