Related gene-specific medical variations for Gene (Select 11078) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2968296	NM_001039141.3(TRIOBP):c.5379+17C>T	LOC126863144, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961513	NM_001039141.3(TRIOBP):c.5487+13G>A	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955408	NM_001039141.3(TRIOBP):c.5328T>C (p.Asp1776=)	LOC126863144, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954844	NM_001039141.3(TRIOBP):c.5637C>T (p.Ile1879=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879762	NM_001039141.3(TRIOBP):c.5370G>A (p.Glu1790=)	LOC126863144, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824492	NM_001039141.3(TRIOBP):c.5380-8_5380-6del	LOC126863145, TRIOBP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2799770	NM_001039141.3(TRIOBP):c.5687+18C>T	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2690273	NM_001039141.3(TRIOBP):c.5519G>T (p.Arg1840Leu)	LOC126863145, TRIOBP (R127L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2474998	NM_001039141.3(TRIOBP):c.5410A>G (p.Thr1804Ala)	LOC126863145, TRIOBP (T1804A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2437318	NM_001039141.3(TRIOBP):c.2516C>G (p.Thr839Ser)	TRIOBP (T839S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2437317	NM_001039141.3(TRIOBP):c.706C>T (p.His236Tyr)	TRIOBP (H236Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2437316	NM_001039141.3(TRIOBP):c.2695C>G (p.Arg899Gly)	TRIOBP (R899G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2437315	NM_001039141.3(TRIOBP):c.4538C>T (p.Thr1513Met)	TRIOBP (T1513M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2437314	NM_001039141.3(TRIOBP):c.2293C>A (p.Gln765Lys)	TRIOBP (Q765K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2317577	NM_001039141.3(TRIOBP):c.5561A>G (p.Tyr1854Cys)	LOC126863145, TRIOBP (Y141C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209328	NM_001039141.3(TRIOBP):c.5326G>A (p.Asp1776Asn)	LOC126863144, TRIOBP (D1776N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203248	NM_001039141.3(TRIOBP):c.5416C>G (p.Gln1806Glu)	LOC126863145, TRIOBP (Q93E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2199800	NM_001039141.3(TRIOBP):c.5642C>T (p.Ala1881Val)	LOC126863145, TRIOBP (A1881V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068946	NM_001039141.3(TRIOBP):c.5367C>G (p.Asp1789Glu)	LOC126863144, TRIOBP (D76E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2031894	NM_001039141.3(TRIOBP):c.5379+20A>C	LOC126863144, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944053	NM_001039141.3(TRIOBP):c.5627G>A (p.Arg1876Gln)	LOC126863145, TRIOBP (R1876Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920067	NM_001039141.3(TRIOBP):c.5555G>A (p.Arg1852His)	LOC126863145, TRIOBP (R139H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800856	NM_001039141.3(TRIOBP):c.5604G>A (p.Ser1868=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1712894	NM_001039141.3(TRIOBP):c.5405C>T (p.Thr1802Ile)	LOC126863145, TRIOBP (T1802I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645876	NM_001039141.3(TRIOBP):c.5380-19C>G	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609470	NM_001039141.3(TRIOBP):c.5448T>C (p.Asp1816=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1418201	NM_001039141.3(TRIOBP):c.5488-6C>A	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1381068	NM_001039141.3(TRIOBP):c.5379+6A>C	LOC126863144, TRIOBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1325235	NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter)	TRIOBP (R726*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 1325234	NM_001039141.3(TRIOBP):c.4280G>A (p.Trp1427Ter)	TRIOBP (W1427*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 1319355	NM_001039141.3(TRIOBP):c.2144C>T (p.Thr715Ile)	TRIOBP (T715I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319354	NM_001039141.3(TRIOBP):c.6106C>G (p.Leu2036Val)	TRIOBP (L2036V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308313	NM_001039141.3(TRIOBP):c.5578-9G>A	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1303594	NM_001039141.3(TRIOBP):c.5518C>T (p.Arg1840Cys)	LOC126863145, TRIOBP (R127C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301561	NM_001039141.3(TRIOBP):c.5422A>G (p.Lys1808Glu)	LOC126863145, TRIOBP (K1808E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 1282544	NM_001039141.3(TRIOBP):c.5322+5067G>C	LOC130067388, TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280543	NM_001039141.3(TRIOBP):c.5380-48A>G	TRIOBP, LOC126863145	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270872	NM_001039141.3(TRIOBP):c.5687+310A>G	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247331	NM_001039141.3(TRIOBP):c.5578-41G>A	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236533	NM_001039141.3(TRIOBP):c.5322+5013CCCGCCGT[4]	LOC130067388, TRIOBP	Microsatellite (intron variant)	not provided	GBenign
Select item 1232536	NM_001039141.3(TRIOBP):c.5322+5013CCCGCCGT[3]	LOC130067388, TRIOBP	Microsatellite (intron variant)	not provided	GBenign
Select item 1216547	NM_001039141.3(TRIOBP):c.5404A>T (p.Thr1802Ser)	TRIOBP, LOC126863145 (T1802S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1212867	NM_001039141.3(TRIOBP):c.5322+4971_5322+4987dup	LOC130067388, TRIOBP	Duplication (intron variant)	not provided	GLikely benign
Select item 1211914	NM_001039141.3(TRIOBP):c.5322+5055C>G	LOC130067388, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208825	NM_001039141.3(TRIOBP):c.5323-5171C>T	LOC130067389, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208213	NM_001039141.3(TRIOBP):c.5322+5035_5322+5036insT	LOC130067388, TRIOBP	Insertion (intron variant)	not provided	GLikely benign
Select item 1203466	NM_001039141.3(TRIOBP):c.5379+178G>A	LOC126863144, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201414	NM_001039141.3(TRIOBP):c.5380-13A>G	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195649	NM_001039141.3(TRIOBP):c.5322+5028_5322+5035del	LOC130067388, TRIOBP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1183230	NM_001039141.3(TRIOBP):c.5322+5038_5322+5039insGCCGTCCCGCCGCCT	TRIOBP, LOC130067388	Insertion (intron variant)	not provided	GLikely benign
Select item 1181572	NM_001039141.3(TRIOBP):c.5323-5311A>G	TRIOBP, LOC130067389	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1065064	NM_001039141.3(TRIOBP):c.5476A>C (p.Thr1826Pro)	LOC126863145, TRIOBP (T113P +1 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 930053	NM_001039141.3(TRIOBP):c.5358G>A (p.Ser1786=)	LOC126863144, TRIOBP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 797492	NM_001039141.3(TRIOBP):c.5511C>T (p.Ile1837=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708646	NM_001039141.3(TRIOBP):c.5394G>A (p.Ser1798=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685298	GRCh37/hg19 22q13.1(chr22:38118220-38187935)x3	TRIOBP	Copy number gain	not provided	GUncertain significance
Select item 618444	NM_001039141.3(TRIOBP):c.7044T>C (p.Leu2348=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618443	NM_001039141.3(TRIOBP):c.3386C>T (p.Ala1129Val)	TRIOBP (A1129V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618442	NM_001039141.3(TRIOBP):c.2869C>G (p.Gln957Glu)	TRIOBP (Q957E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598631	NM_001039141.3(TRIOBP):c.5655C>T (p.Thr1885=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 523064	NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg)	TRIOBP (S688R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 511177	NM_001039141.3(TRIOBP):c.5373T>C (p.Pro1791=)	LOC126863144, TRIOBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 505084	NM_001039141.3(TRIOBP):c.5529G>A (p.Thr1843=)	TRIOBP, LOC126863145	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 504693	NM_001039141.3(TRIOBP):c.5380-14C>T	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 495111	NM_001039141.3(TRIOBP):c.3145_3146del (p.Glu1048_Ser1049insTer)	TRIOBP	Microsatellite (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 423823	NM_001039141.3(TRIOBP):c.5488-2A>G	LOC126863145, TRIOBP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 376883	NM_001039141.3(TRIOBP):c.4062+2T>C	TRIOBP	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 229362	NM_001039141.3(TRIOBP):c.5575C>G (p.His1859Asp)	LOC126863145, TRIOBP (H1859D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 229360	NM_001039141.3(TRIOBP):c.5528C>T (p.Thr1843Met)	LOC126863145, TRIOBP (T1843M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 229359	NM_001039141.3(TRIOBP):c.5519G>A (p.Arg1840His)	LOC126863145, TRIOBP (R1840H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 228037	NM_001039141.3(TRIOBP):c.5488-14C>T	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 228036	NM_001039141.3(TRIOBP):c.5393C>T (p.Ser1798Leu)	LOC126863145, TRIOBP (S1798L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 228035	NM_001039141.3(TRIOBP):c.5378A>C (p.Glu1793Ala)	LOC126863144, TRIOBP (E1793A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 178558	NM_001039141.3(TRIOBP):c.5544C>T (p.Tyr1848=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 178557	NM_001039141.3(TRIOBP):c.5358G>T (p.Ser1786=)	LOC126863144, TRIOBP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 177980	NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)	LOC126863145, TRIOBP (A1863V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 165599	NM_001039141.3(TRIOBP):c.5349A>T (p.Gly1783=)	LOC126863144, TRIOBP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 43862	NM_001039141.3(TRIOBP):c.5550G>A (p.Val1850=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 43861	NM_001039141.3(TRIOBP):c.5488-7del	LOC126863145, TRIOBP	Deletion (intron variant)	not provided +1 more	GBenign
Select item 43860	NM_001039141.3(TRIOBP):c.5487+9A>G	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

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Links from Gene

Items: 80