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

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

Search results

Items: 1 to 100 of 362

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 1207035	NM_001039141.3(TRIOBP):c.-60-129G>C	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234293	NM_001039141.3(TRIOBP):c.-60-107_-60-106dup	TRIOBP	Duplication (intron variant)	not provided	GBenign
Select item 43848	NM_001039141.3(TRIOBP):c.-14C>G	TRIOBP	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 1312953	NM_001039141.3(TRIOBP):c.41A>G (p.Glu14Gly)	TRIOBP (E14G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 228044	NM_001039141.3(TRIOBP):c.96C>T (p.Ala32=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1223706	NM_001039141.3(TRIOBP):c.114+16A>G	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1178629	NM_001039141.3(TRIOBP):c.114+252T>A	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182574	NM_001039141.3(TRIOBP):c.114+256T>G	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243015	NM_001039141.3(TRIOBP):c.115-326C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259560	NM_001039141.3(TRIOBP):c.115-209T>G	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215904	NM_001039141.3(TRIOBP):c.115-177C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261002	NM_001039141.3(TRIOBP):c.115-175A>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196547	NM_001039141.3(TRIOBP):c.115-148C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212232	NM_001039141.3(TRIOBP):c.115-74G>A	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220422	NM_001039141.3(TRIOBP):c.115-55G>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215413	NM_001039141.3(TRIOBP):c.115-35C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200524	NM_001039141.3(TRIOBP):c.163C>T (p.Arg55Ter)	TRIOBP (R55*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 43849	NM_001039141.3(TRIOBP):c.202A>G (p.Thr68Ala)	TRIOBP (T68A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1698042	NM_001039141.3(TRIOBP):c.254+4G>A	TRIOBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1216534	NM_001039141.3(TRIOBP):c.254+120G>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246445	NM_001039141.3(TRIOBP):c.254+173dup	TRIOBP	Duplication (intron variant)	not provided	GBenign
Select item 1274056	NM_001039141.3(TRIOBP):c.255-252AAAT[11]	TRIOBP	Microsatellite (intron variant)	not provided	GBenign
Select item 1198717	NM_001039141.3(TRIOBP):c.255-252AAAT[12]	TRIOBP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1245265	NM_001039141.3(TRIOBP):c.255-252AAAT[8]	TRIOBP	Microsatellite (intron variant)	not provided	GBenign
Select item 1238906	NM_001039141.3(TRIOBP):c.255-252AAAT[9]	TRIOBP	Microsatellite (intron variant)	not provided	GBenign
Select item 1213014	NM_001039141.3(TRIOBP):c.255-242del	TRIOBP	Deletion (intron variant)	not provided	GLikely benign
Select item 1190950	NM_001039141.3(TRIOBP):c.255-240_255-234del	TRIOBP	Deletion (intron variant)	not provided	GLikely benign
Select item 1277930	NM_001039141.3(TRIOBP):c.255-112C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224793	NM_001039141.3(TRIOBP):c.255-102G>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 165582	NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala)	TRIOBP (P89A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1878779	NM_001039141.3(TRIOBP):c.328G>A (p.Glu110Lys)	TRIOBP (E110K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666768	NM_001039141.3(TRIOBP):c.363C>A (p.Ser121=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 790776	NM_001039141.3(TRIOBP):c.365T>C (p.Leu122Ser)	TRIOBP (L122S)	Single nucleotide variant (missense variant)	TRIOBP-related condition +1 more	GLikely benign
Select item 1194304	NM_001039141.3(TRIOBP):c.381C>T (p.Asn127=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582116	NM_001039141.3(TRIOBP):c.382G>A (p.Glu128Lys)	TRIOBP (E128K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 43850	NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser)	TRIOBP (G131S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 228029	NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly)	TRIOBP (S137G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2428977	NM_001039141.3(TRIOBP):c.433G>A (p.Asp145Asn)	TRIOBP (D145N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575697	NM_001039141.3(TRIOBP):c.455T>C (p.Val152Ala)	TRIOBP (V152A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214632	NM_001039141.3(TRIOBP):c.457-271G>A	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 165583	NM_001039141.3(TRIOBP):c.477G>T (p.Arg159Ser)	TRIOBP (R159S)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1191916	NM_001039141.3(TRIOBP):c.497G>C (p.Ser166Thr)	TRIOBP (S166T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 227126	NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu)	TRIOBP (D168E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1327738	NM_001039141.3(TRIOBP):c.536G>T (p.Arg179Leu)	TRIOBP (R179L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178554	NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)	TRIOBP (T195I)	Single nucleotide variant (missense variant)	TRIOBP-related condition +3 more	GBenign/Likely benign
Select item 1223794	NM_001039141.3(TRIOBP):c.587G>C (p.Arg196Thr)	TRIOBP (R196T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204744	NM_001039141.3(TRIOBP):c.594T>C (p.Pro198=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343919	NM_001039141.3(TRIOBP):c.628+94dup	TRIOBP	Duplication (intron variant)	not provided	GLikely benign
Select item 1200892	NM_001039141.3(TRIOBP):c.628+94A>G	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281285	NM_001039141.3(TRIOBP):c.628+284T>C	TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 1202266	NM_001039141.3(TRIOBP):c.629-281T>A	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220254	NM_001039141.3(TRIOBP):c.629-26C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1312592	NM_001039141.3(TRIOBP):c.629-17CT[2]	TRIOBP	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1192903	NM_001039141.3(TRIOBP):c.633C>T (p.Thr211=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1216799	NM_001039141.3(TRIOBP):c.636C>T (p.Gly212=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1346327	NM_001039141.3(TRIOBP):c.637G>A (p.Gly213Ser)	TRIOBP (G213S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712721	NM_001039141.3(TRIOBP):c.646C>T (p.Arg216Trp)	TRIOBP (R216W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508110	NM_001039141.3(TRIOBP):c.650G>A (p.Ser217Asn)	TRIOBP (S217N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1248187	NM_001039141.3(TRIOBP):c.651C>T (p.Ser217=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1050176	NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp)	TRIOBP (R237W)	Single nucleotide variant (missense variant)	TRIOBP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 156028	NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)	TRIOBP (T272K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1806640	NM_001039141.3(TRIOBP):c.817C>T (p.Arg273Cys)	TRIOBP (R273C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200691	NM_001039141.3(TRIOBP):c.951G>T (p.Glu317Asp)	TRIOBP (E317D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034398	NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser)	TRIOBP (A322S)	Single nucleotide variant (missense variant)	TRIOBP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1190098	NM_001039141.3(TRIOBP):c.965C>T (p.Ala322Val)	TRIOBP (A322V)	Single nucleotide variant (missense variant)	TRIOBP-related condition +1 more	GBenign/Likely benign
Select item 1490	NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter)	TRIOBP (R347*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GPathogenic
Select item 1215151	NM_001039141.3(TRIOBP):c.1090C>T (p.Pro364Ser)	TRIOBP (P364S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221941	NM_001039141.3(TRIOBP):c.1132C>T (p.Pro378Ser)	TRIOBP (P378S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 593116	NM_001039141.3(TRIOBP):c.1158C>T (p.Asp386=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1308062	NM_001039141.3(TRIOBP):c.1159G>C (p.Asp387His)	TRIOBP (D387H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198447	NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del)	TRIOBP (Q398del)	Deletion (inframe_deletion)	not provided +2 more	GBenign
Select item 450619	NM_001039141.3(TRIOBP):c.1195C>T (p.Arg399Ter)	TRIOBP (R399*)	Single nucleotide variant (nonsense)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 596327	NM_001039141.3(TRIOBP):c.1225C>T (p.Arg409Trp)	TRIOBP (R409W)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 1212939	NM_001039141.3(TRIOBP):c.1226G>A (p.Arg409Gln)	TRIOBP (R409Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 285798	NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg)	TRIOBP (P428R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 508575	NM_001039141.3(TRIOBP):c.1306G>A (p.Asp436Asn)	TRIOBP (D436N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 508124	NM_001039141.3(TRIOBP):c.1478G>A (p.Ser493Asn)	TRIOBP (S493N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 218489	NM_001039141.3(TRIOBP):c.1591G>A (p.Ala531Thr)	TRIOBP (A531T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1262124	NM_001039141.3(TRIOBP):c.1614CTC[1] (p.Ser540del)	TRIOBP (S540del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1422190	NM_001039141.3(TRIOBP):c.1690A>G (p.Thr564Ala)	TRIOBP (T564A)	Single nucleotide variant (missense variant)	TRIOBP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1220141	NM_001039141.3(TRIOBP):c.1850A>G (p.Asn617Ser)	TRIOBP (N617S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1135995	NM_001039141.3(TRIOBP):c.1866T>C (p.Asp622=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 620162	NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter)	TRIOBP (Q645*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 681083	NM_001039141.3(TRIOBP):c.1979C>T (p.Ala660Val)	TRIOBP (A660V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1193765	NM_001039141.3(TRIOBP):c.1989T>C (p.Pro663=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 596785	NM_001039141.3(TRIOBP):c.2105A>G (p.Gln702Arg)	TRIOBP (Q702R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 286759	NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu)	TRIOBP (Q717E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1216253	NM_001039141.3(TRIOBP):c.2234G>A (p.Arg745Lys)	TRIOBP (R745K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1265581	NM_001039141.3(TRIOBP):c.2392C>T (p.Arg798Trp)	TRIOBP (R798W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1318739	NM_001039141.3(TRIOBP):c.2432A>G (p.Gln811Arg)	TRIOBP (Q811R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290103	NM_001039141.3(TRIOBP):c.2450C>G (p.Thr817Ser)	TRIOBP (T817S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 682566	NM_001039141.3(TRIOBP):c.2456T>C (p.Ile819Thr)	TRIOBP (I819T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 811578	NM_001039141.3(TRIOBP):c.2477C>T (p.Ser826Leu)	TRIOBP (S826L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GBenign
Select item 1189482	NM_001039141.3(TRIOBP):c.2487C>T (p.Thr829=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1313150	NM_001039141.3(TRIOBP):c.2531T>G (p.Leu844Arg)	TRIOBP (L844R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305695	NM_001039141.3(TRIOBP):c.2555A>T (p.Asp852Val)	TRIOBP (D852V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 508111	NM_001039141.3(TRIOBP):c.2589C>A (p.Asn863Lys)	TRIOBP (N863K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign

<< First< Prev

Page of 4