ClinVar for Gene (Select 11078) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 896

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234637	NM_001039141.3(TRIOBP):c.2749G>C (p.Asp917His)	TRIOBP (D917H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3182891	NM_001039141.3(TRIOBP):c.6019C>T (p.Arg2007Cys)	TRIOBP (R294C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075891	NM_001039141.3(TRIOBP):c.138_153del (p.Glu47fs)	TRIOBP (E47fs)	Deletion (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 3075870	NM_001039141.3(TRIOBP):c.390dup (p.Gly131fs)	TRIOBP (G131fs)	Duplication (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 3067429	NM_001039141.3(TRIOBP):c.3282C>T (p.Ala1094=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053596	NM_001039141.3(TRIOBP):c.1940G>A (p.Ser647Asn)	TRIOBP (S647N)	Single nucleotide variant (missense variant)	TRIOBP-related disorder	GBenign
Select item 3053569	NM_001039141.3(TRIOBP):c.6399C>T (p.His2133=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related disorder	GLikely benign
Select item 3052622	NM_001039141.3(TRIOBP):c.395C>G (p.Ser132Cys)	TRIOBP (S132C)	Single nucleotide variant (missense variant)	TRIOBP-related disorder +1 more	GUncertain significance
Select item 3052349	NM_001039141.3(TRIOBP):c.1962A>G (p.Arg654=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related disorder	GLikely benign
Select item 3051307	NM_001039141.3(TRIOBP):c.1074T>C (p.Ser358=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related disorder	GLikely benign
Select item 3050637	NM_001039141.3(TRIOBP):c.1727G>C (p.Arg576Thr)	TRIOBP (R576T)	Single nucleotide variant (missense variant)	TRIOBP-related disorder	GLikely benign
Select item 3039200	NM_001039141.3(TRIOBP):c.5322+5281GGC[6]	TRIOBP (G33del)	Microsatellite (inframe deletion +1 more)	TRIOBP-related disorder	GLikely benign
Select item 3037240	NM_001039141.3(TRIOBP):c.837C>T (p.Ser279=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related disorder	GLikely benign
Select item 3025126	NM_001039141.3(TRIOBP):c.5322+5281GGC[10]	TRIOBP	Microsatellite (inframe_insertion +1 more)	not provided +1 more	GLikely benign
Select item 3024754	NM_001039141.3(TRIOBP):c.2250G>A (p.Gln750=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022433	NM_001039141.3(TRIOBP):c.2235A>G (p.Arg745=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021462	NM_001039141.3(TRIOBP):c.6472+18_6472+19insC	TRIOBP	Insertion (intron variant)	not provided	GLikely benign
Select item 3020817	NM_001039141.3(TRIOBP):c.4063-17C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016362	NM_001039141.3(TRIOBP):c.4644G>A (p.Pro1548=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003465	NM_001039141.3(TRIOBP):c.457-12C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999099	NM_001039141.3(TRIOBP):c.6998C>T (p.Thr2333Ile)	TRIOBP (T2333I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986613	NM_001039141.3(TRIOBP):c.6609G>C (p.Gln2203His)	TRIOBP (Q2203H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982427	NM_001039141.3(TRIOBP):c.3616_3617del (p.Leu1206fs)	TRIOBP (L1206fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2979806	NM_001039141.3(TRIOBP):c.3295C>T (p.Gln1099Ter)	TRIOBP (Q1099*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2979127	NM_001039141.3(TRIOBP):c.2781C>T (p.Ser927=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977934	NM_001039141.3(TRIOBP):c.6472+14_6472+15insA	TRIOBP	Insertion (intron variant)	not provided	GLikely benign
Select item 2973744	NM_001039141.3(TRIOBP):c.3738G>A (p.Pro1246=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973025	NM_001039141.3(TRIOBP):c.4170G>A (p.Gln1390=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972596	NM_001039141.3(TRIOBP):c.4641C>T (p.Tyr1547=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972342	NM_001039141.3(TRIOBP):c.3655G>A (p.Gly1219Arg)	TRIOBP (G1219R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968296	NM_001039141.3(TRIOBP):c.5379+17C>T	LOC126863144, TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965643	NM_001039141.3(TRIOBP):c.6051C>T (p.Asp2017=)	TRIOBP	Single nucleotide variant (synonymous 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 2957624	NM_001039141.3(TRIOBP):c.2112C>T (p.Asp704=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957456	NM_001039141.3(TRIOBP):c.6324+9G>C	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 2955284	NM_001039141.3(TRIOBP):c.6736-10C>G	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955208	NM_001039141.3(TRIOBP):c.6472+15_6472+16insT	TRIOBP	Insertion (intron 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 2917209	NM_001039141.3(TRIOBP):c.6363G>A (p.Ser2121=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908067	NM_001039141.3(TRIOBP):c.1342del (p.Arg448fs)	TRIOBP (R448fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2907956	NM_001039141.3(TRIOBP):c.4875G>A (p.Glu1625=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900760	NM_001039141.3(TRIOBP):c.6969C>T (p.Asp2323=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900303	NM_001039141.3(TRIOBP):c.3225G>A (p.Ser1075=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2898575	NM_001039141.3(TRIOBP):c.3822C>T (p.Ala1274=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896237	NM_001039141.3(TRIOBP):c.6678C>T (p.Arg2226=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896233	NM_001039141.3(TRIOBP):c.7059C>G (p.Leu2353=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893070	NM_001039141.3(TRIOBP):c.6040C>T (p.Leu2014=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892011	NM_001039141.3(TRIOBP):c.3768G>A (p.Ala1256=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889698	NM_001039141.3(TRIOBP):c.6228G>A (p.Arg2076=)	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 2874805	NM_001039141.3(TRIOBP):c.255-10C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855864	NM_001039141.3(TRIOBP):c.6324+14G>A	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841584	NM_001039141.3(TRIOBP):c.6936+15T>C	TRIOBP	Single nucleotide variant (intron 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 2814660	NM_001039141.3(TRIOBP):c.5300_5301del (p.Leu1767fs)	TRIOBP (L1767fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2812339	NM_001039141.3(TRIOBP):c.2967C>T (p.Ser989=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811850	NM_001039141.3(TRIOBP):c.6575+18C>A	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806623	NM_001039141.3(TRIOBP):c.93G>A (p.Glu31=)	TRIOBP	Single nucleotide variant (synonymous 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 2789530	NM_001039141.3(TRIOBP):c.1224G>A (p.Gln408=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778455	NM_001039141.3(TRIOBP):c.2208C>T (p.Asn736=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763132	NM_001039141.3(TRIOBP):c.2995G>A (p.Ala999Thr)	TRIOBP (A999T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753215	NM_001039141.3(TRIOBP):c.6936+14C>T	TRIOBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742133	NM_001039141.3(TRIOBP):c.710G>A (p.Arg237Gln)	TRIOBP (R237Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2732467	NM_001039141.3(TRIOBP):c.3465C>T (p.His1155=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721953	NM_001039141.3(TRIOBP):c.2914T>C (p.Leu972=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716359	NM_001039141.3(TRIOBP):c.6630G>A (p.Ser2210=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699983	NM_001039141.3(TRIOBP):c.876C>G (p.Ala292=)	TRIOBP	Single nucleotide variant (synonymous 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 2683574	NM_001039141.3(TRIOBP):c.6599G>A (p.Arg2200Gln)	TRIOBP (R2200Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683572	NM_001039141.3(TRIOBP):c.653C>T (p.Ala218Val)	TRIOBP (A218V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682448	NC_000022.10:g.(38122511_38129304)_(38168772_38169789)dup	TRIOBP	Duplication	not specified	GUncertain significance
Select item 2663969	NM_001039141.3(TRIOBP):c.5849C>T (p.Pro1950Leu)	TRIOBP (P1950L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GUncertain significance
Select item 2662864	NM_001039141.3(TRIOBP):c.2735G>A (p.Arg912Gln)	TRIOBP (R912Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653124	NM_001039141.3(TRIOBP):c.5322+5281GGC[8]	TRIOBP	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2653123	NM_001039141.3(TRIOBP):c.5322+5241A>G	TRIOBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2653122	NM_001039141.3(TRIOBP):c.3810C>T (p.Tyr1270=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653121	NM_001039141.3(TRIOBP):c.3699A>C (p.Pro1233=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653120	NM_001039141.3(TRIOBP):c.3129G>T (p.Glu1043Asp)	TRIOBP (E1043D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653119	NM_001039141.3(TRIOBP):c.3057G>A (p.Gly1019=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653118	NM_001039141.3(TRIOBP):c.1814G>A (p.Arg605Gln)	TRIOBP (R605Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2637326	NM_001039141.3(TRIOBP):c.3758G>A (p.Arg1253Gln)	TRIOBP (R1253Q)	Single nucleotide variant (missense variant)	TRIOBP-related disorder	GUncertain significance
Select item 2631761	NM_001039141.3(TRIOBP):c.6324+203dup	TRIOBP (E413*)	Duplication (nonsense +1 more)	TRIOBP-related disorder	GLikely pathogenic
Select item 2629568	NM_001039141.3(TRIOBP):c.5185-2A>G	TRIOBP	Single nucleotide variant (splice acceptor variant)	TRIOBP-related disorder	GLikely pathogenic
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 2581312	NM_001039141.3(TRIOBP):c.3737C>T (p.Pro1246Leu)	TRIOBP (P1246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581286	NM_001039141.3(TRIOBP):c.6325-9G>C	TRIOBP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2579564	NM_001039141.3(TRIOBP):c.6025G>T (p.Gly2009Cys)	TRIOBP (G2009C +1 more)	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 2573977	NM_001039141.3(TRIOBP):c.6086_6139dup (p.Leu2046_Thr2047insLysTrpGlnGluLeuGluLysLeuProLeuArgGluAsnLysArgValProLeu)	TRIOBP	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2573827	NM_001039141.3(TRIOBP):c.5233C>T (p.Arg1745Ter)	TRIOBP (R1745*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2573770	NM_001039141.3(TRIOBP):c.6748C>T (p.Arg2250Cys)	TRIOBP (R2250C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572824	NM_001039141.3(TRIOBP):c.4406C>A (p.Ala1469Glu)	TRIOBP (A1469E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571160	NM_001039141.3(TRIOBP):c.3536_3537delinsAT (p.Arg1179His)	TRIOBP (R1179H)	Indel (missense variant)	not provided	GUncertain significance
Select item 2571159	NM_001039141.3(TRIOBP):c.1015A>G (p.Thr339Ala)	TRIOBP (T339A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502661	NM_001039141.3(TRIOBP):c.3955G>A (p.Glu1319Lys)	TRIOBP (E1319K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502120	NM_001039141.3(TRIOBP):c.6079G>A (p.Glu2027Lys)	TRIOBP (E2027K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499947	NM_001039141.3(TRIOBP):c.7001G>A (p.Arg2334Gln)	TRIOBP (R2334Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498905	NM_001039141.3(TRIOBP):c.237C>G (p.Leu79=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 9