ClinVar for Gene (Select 9320) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 755

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4814112	NM_001348323.3(TRIP12):c.5041A>T (p.Met1681Leu)	TRIP12 (M1336L +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 4814111	NM_001348323.3(TRIP12):c.1703T>C (p.Val568Ala)	TRIP12 (V223A +4 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 4796256	GRCh38/hg38 2q36.3(chr2:229709309-229904921)x3	DNER, LOC129389004 +2 more	Copy number gain	not provided	GUncertain significance
Select item 4795429	NM_001348323.3(TRIP12):c.5270G>A (p.Gly1757Asp)	TRIP12 (G1682D +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4795315	NM_001348323.3(TRIP12):c.3760_3763delinsA (p.Ala1254_Val1255delinsMet)	TRIP12	Indel (inframe_indel)	not provided	GUncertain significance
Select item 4778606	NM_001348323.3(TRIP12):c.1576G>A (p.Val526Ile)	TRIP12 (V497I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4755724	NM_001348323.3(TRIP12):c.25C>T (p.Pro9Ser)	TRIP12 (P9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4726144	NM_001348323.3(TRIP12):c.748G>T (p.Ala250Ser)	TRIP12 (A250S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4719629	NM_001348323.3(TRIP12):c.5070G>C (p.Met1690Ile)	TRIP12 (M1656I +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4690115	NM_001348323.3(TRIP12):c.601A>T (p.Ser201Cys)	TRIP12 (S159C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4690099	NM_001348323.3(TRIP12):c.311A>G (p.Gln104Arg)	TRIP12 (Q104R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4688812	NC_000002.11:g.230656707_(230656943_230657688)del	TRIP12	Deletion	Clark-Baraitser syndrome	GLikely pathogenic
Select item 4686748	NM_001348323.3(TRIP12):c.3131C>T (p.Thr1044Ile)	TRIP12 (T1002I +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4686439	NM_001348323.3(TRIP12):c.4543G>C (p.Asp1515His)	TRIP12 (D1170H +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4686324	NM_001348323.3(TRIP12):c.1041_1043del (p.Thr348del)	TRIP12 (T306del +2 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 4686097	NM_001348323.3(TRIP12):c.2566_2569del (p.Asn856fs)	TRIP12 (N511fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 4685409	NM_001348323.3(TRIP12):c.445C>A (p.Pro149Thr)	TRIP12 (P107T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4682551	GRCh37/hg19 2q33.3-37.3(chr2:206965837-242783384)x3	AAMP, ABCA12 +257 more	Copy number gain	not provided	GPathogenic
Select item 4681579	NM_001348323.3(TRIP12):c.3054A>G (p.Pro1018=)	TRIP12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4680884	NM_001348323.3(TRIP12):c.1847T>C (p.Leu616Pro)	TRIP12 (L271P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4633639	NM_001348323.3(TRIP12):c.256C>G (p.Pro86Ala)	TRIP12 (P44A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 4633638	NM_001348323.3(TRIP12):c.1474C>A (p.Gln492Lys)	TRIP12 (Q147K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4633637	NM_001348323.3(TRIP12):c.3325A>G (p.Thr1109Ala)	TRIP12 (T1034A +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4633636	NM_001348323.3(TRIP12):c.686A>G (p.Lys229Arg)	TRIP12 (K187R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4633635	NM_001348323.3(TRIP12):c.4355C>T (p.Thr1452Ile)	TRIP12 (T1377I +11 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 4633634	NM_001348323.3(TRIP12):c.1300A>G (p.Met434Val)	TRIP12 (M392V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4633633	NM_001348323.3(TRIP12):c.5710G>T (p.Ala1904Ser)	TRIP12 (A1857S +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4633632	NM_001348323.3(TRIP12):c.1313G>T (p.Gly438Val)	TRIP12 (G396V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4633631	NM_001348323.3(TRIP12):c.3745A>G (p.Lys1249Glu)	TRIP12 (K1180E +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4633630	NM_001348323.3(TRIP12):c.401C>G (p.Pro134Arg)	TRIP12 (P134R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4633628	NM_001348323.3(TRIP12):c.1049A>G (p.Lys350Arg)	TRIP12 (K350R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4633627	NM_001348323.3(TRIP12):c.553G>A (p.Gly185Ser)	TRIP12 (G143S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 4633626	NM_001348323.3(TRIP12):c.2581A>G (p.Ile861Val)	TRIP12 (I792V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4538945	NM_001348323.3(TRIP12):c.4409C>T (p.Thr1470Ile)	TRIP12 (T1125I +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4538794	NM_001348323.3(TRIP12):c.1823C>A (p.Ala608Glu)	TRIP12 (A263E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4536579	NM_001348323.3(TRIP12):c.5594T>C (p.Leu1865Pro)	TRIP12 (L1520P +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4535392	NM_001348323.3(TRIP12):c.3230G>C (p.Arg1077Thr)	TRIP12 (R1002T +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4535391	NM_001348323.3(TRIP12):c.4119C>A (p.Ile1373=)	TRIP12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4534977	NM_001348323.3(TRIP12):c.3816+5_3816+8del	TRIP12	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 4534043	NM_001348323.3(TRIP12):c.1551T>C (p.Asn517=)	TRIP12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4533829	NM_001348323.3(TRIP12):c.3987A>G (p.Gly1329=)	TRIP12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4533686	NM_001348323.3(TRIP12):c.2631G>A (p.Pro877=)	TRIP12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4532503	NM_001348323.3(TRIP12):c.6161T>G (p.Leu2054Trp)	TRIP12 (L1709W +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4531844	NM_001348323.3(TRIP12):c.3980A>G (p.Asn1327Ser)	TRIP12 (N1252S +6 more)	Single nucleotide variant (missense variant +1 more)	Clark-Baraitser syndrome	GUncertain significance
Select item 4527936	NM_001348323.3(TRIP12):c.2704G>A (p.Asp902Asn)	TRIP12 (D557N +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4527324	NM_001348323.3(TRIP12):c.3235C>T (p.Arg1079Ter)	TRIP12 (R1004* +8 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 4527145	NM_001348323.3(TRIP12):c.924C>G (p.Phe308Leu)	TRIP12 (F266L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4527051	NM_001348323.3(TRIP12):c.2257G>T (p.Ala753Ser)	TRIP12 (A408S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4525758	NM_001348323.3(TRIP12):c.3473C>T (p.Ser1158Phe)	TRIP12 (S1131F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4510352	NM_174899.5(FBXO36):c.96+8C>A	FBXO36, TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510351	NM_001348323.3(TRIP12):c.-49-18T>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510349	NM_001348323.3(TRIP12):c.-49-16T>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510348	NM_001348323.3(TRIP12):c.-49-15T>A	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510347	NM_001348323.3(TRIP12):c.-49-14T>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510346	NM_001348323.3(TRIP12):c.-49-13T>A	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510344	NM_001348323.3(TRIP12):c.-49-8T>A	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510343	NM_001348323.3(TRIP12):c.-49-8T>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510342	NM_001348323.3(TRIP12):c.-49-7C>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510340	NM_001348323.3(TRIP12):c.-49-6T>A	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510339	NM_001348323.3(TRIP12):c.458C>A (p.Ser153Ter)	TRIP12 (S111* +1 more)	Single nucleotide variant (nonsense +1 more)	Not Specified
Select item 4510338	NM_001348323.3(TRIP12):c.747T>A (p.Ser249=)	TRIP12	Single nucleotide variant (synonymous variant +1 more)	Not Specified
Select item 4510337	NM_001348323.3(TRIP12):c.1133+3A>C	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510336	NM_001348323.3(TRIP12):c.1134-5T>A	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510334	NM_001348323.3(TRIP12):c.1270+63G>T	TRIP12	Single nucleotide variant (3 prime UTR variant +1 more)	Not Specified
Select item 4510333	NM_001348323.3(TRIP12):c.1354+14T>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510332	NM_001348323.3(TRIP12):c.1354+22A>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510331	NM_001348323.3(TRIP12):c.1409G>T (p.Arg470Leu)	TRIP12 (R441L +4 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4510330	NM_001348323.3(TRIP12):c.1451-17T>A	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510329	NM_001348323.3(TRIP12):c.1635+1G>T	TRIP12	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4510328	NM_001348323.3(TRIP12):c.1731+1G>A	TRIP12	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4510326	NM_001348323.3(TRIP12):c.1731+1G>T	TRIP12	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4510325	NM_001348323.3(TRIP12):c.1732-24T>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510324	NM_001348323.3(TRIP12):c.1825-1G>T	TRIP12	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4510323	NM_001348323.3(TRIP12):c.1987-1G>T	TRIP12	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4510322	NM_001348323.3(TRIP12):c.2055+22G>A	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510321	NM_001348323.3(TRIP12):c.2339+39C>T	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510320	NM_001348323.3(TRIP12):c.2340-13T>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510319	NM_001348323.3(TRIP12):c.2497G>T (p.Ala833Ser)	TRIP12 (A833S +4 more)	Single nucleotide variant (missense variant +1 more)	Not Specified
Select item 4510317	NM_001348323.3(TRIP12):c.2570C>A (p.Ser857Tyr)	TRIP12 (S858Y +4 more)	Single nucleotide variant (missense variant +1 more)	Not Specified
Select item 4510316	NM_001348323.3(TRIP12):c.2650+8C>A	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510315	NM_001348323.3(TRIP12):c.2651-18T>A	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510314	NM_001348323.3(TRIP12):c.2651-15T>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510313	NM_001348323.3(TRIP12):c.2651-1G>C	TRIP12	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4510312	NM_001348323.3(TRIP12):c.3817-57G>A	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510311	NM_001348323.3(TRIP12):c.3966C>T (p.Gly1322=)	TRIP12	Single nucleotide variant (synonymous variant)	Not Specified
Select item 4510310	NM_001348323.3(TRIP12):c.3968+4A>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510309	NM_001348323.3(TRIP12):c.4215G>T (p.Leu1405=)	TRIP12	Single nucleotide variant (synonymous variant)	Not Specified
Select item 4510308	NM_001348323.3(TRIP12):c.4315C>A (p.Arg1439=)	TRIP12	Single nucleotide variant (synonymous variant)	Not Specified
Select item 4510307	NM_001348323.3(TRIP12):c.4334C>G (p.Ala1445Gly)	TRIP12 (A1440G +11 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4510306	NM_001348323.3(TRIP12):c.4696-14T>A	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510305	NM_001348323.3(TRIP12):c.4839-107A>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510303	NM_001348323.3(TRIP12):c.4995+31C>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510302	NM_001348323.3(TRIP12):c.5094+1G>A	TRIP12	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4510301	NM_001348323.3(TRIP12):c.5099G>T (p.Gly1700Val)	TRIP12 (G1695V +11 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4510300	NM_001348323.3(TRIP12):c.5345C>T (p.Ala1782Val)	TRIP12 (A1437V +11 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4510299	NM_001348323.3(TRIP12):c.5493C>A (p.Val1831=)	TRIP12	Single nucleotide variant (synonymous variant)	Not Specified
Select item 4510297	NM_001348323.3(TRIP12):c.5695-5T>A	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510295	NM_001348323.3(TRIP12):c.5750G>T (p.Arg1917Ile)	TRIP12 (R1842I +11 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4510294	NM_001348323.3(TRIP12):c.5904-18T>G	TRIP12	Single nucleotide variant (intron variant)	Not Specified
Select item 4510293	NM_001348323.3(TRIP12):c.6006A>C (p.Gly2002=)	TRIP12	Single nucleotide variant (synonymous variant)	Not Specified

<< First< Prev

Page of 8