ClinVar for PubMed (Select 22575033) - ClinVar - NCBI

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

Links from PubMed

Items: 1 to 100 of 169

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022565	NM_194248.3(OTOF):c.3289-1G>C	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3006249	NM_194248.3(OTOF):c.3733+1G>A	OTOF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3005747	NM_194248.3(OTOF):c.2677-1G>C	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3005142	NM_194248.3(OTOF):c.3239del (p.Arg1080fs)	OTOF (R333fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3001647	NM_194248.3(OTOF):c.1632_1641dup (p.Leu548Ter)	OTOF (L548*)	Duplication (nonsense)	not provided	GPathogenic
Select item 3000721	NM_194248.3(OTOF):c.80-2A>G	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2996521	NM_194248.3(OTOF):c.5093del (p.Gly1698fs)	LOC112840921, OTOF (G1698fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2995297	NM_194248.3(OTOF):c.5812_5813+2del	OTOF	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2994361	NM_194248.3(OTOF):c.4289_4292dup (p.Arg1433fs)	OTOF (R1433fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2993116	NM_194248.3(OTOF):c.2406+2T>C	OTOF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2988289	NM_194248.3(OTOF):c.46del (p.Arg16fs)	OTOF (R16fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2985201	NM_194248.3(OTOF):c.1365C>A (p.Tyr455Ter)	OTOF (Y455*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2982202	NM_194248.3(OTOF):c.5193-1G>C	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2981250	NM_194248.3(OTOF):c.2711G>A (p.Trp904Ter)	OTOF (W157* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2979246	NM_194248.3(OTOF):c.3346C>T (p.Arg1116Ter)	OTOF (R369* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2979182	NM_194248.3(OTOF):c.227+2T>C	OTOF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2977151	NM_194248.3(OTOF):c.1039C>T (p.Gln347Ter)	OTOF (Q347*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2972996	NM_194248.3(OTOF):c.5892G>A (p.Trp1964Ter)	OTOF (W1274* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2971423	NM_194248.3(OTOF):c.1498C>T (p.Arg500Ter)	OTOF (R500*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2967211	NM_194248.3(OTOF):c.4799+2T>C	OTOF	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2957334	NM_194248.3(OTOF):c.799dup (p.Val267fs)	OTOF (V267fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2891890	NM_194248.3(OTOF):c.5533+1G>A	OTOF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2891889	NM_194248.3(OTOF):c.4799+1G>C	OTOF	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2891185	NM_194248.3(OTOF):c.5520del (p.Asp1841fs)	OTOF (D1074fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2878572	NM_194248.3(OTOF):c.3864+2T>C	OTOF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2877280	NM_194248.3(OTOF):c.1206-1G>A	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2871609	NM_194248.3(OTOF):c.3734-2A>G	OTOF	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2870800	NM_194248.3(OTOF):c.418C>T (p.Gln140Ter)	OTOF (Q140*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2869844	NM_194248.3(OTOF):c.226A>T (p.Lys76Ter)	OTOF (K76*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2865276	NM_194248.3(OTOF):c.1037C>A (p.Ser346Ter)	OTOF (S346*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2862522	NM_194248.3(OTOF):c.3480_3486del (p.Ile1160fs)	OTOF (I1160fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2860764	NM_194248.3(OTOF):c.5868C>A (p.Tyr1956Ter)	OTOF (Y1266* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2860612	NM_194248.3(OTOF):c.1045+1G>T	OTOF	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2857179	NM_194248.3(OTOF):c.711-1G>T	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2849322	NM_194248.3(OTOF):c.4776C>A (p.Cys1592Ter)	OTOF (C825* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2848351	NM_194248.3(OTOF):c.2839_2867-12del	OTOF	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2843817	NM_194248.3(OTOF):c.3734-2A>C	OTOF	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2840952	NM_194248.3(OTOF):c.4596del (p.Asn1531_Tyr1532insTer)	OTOF	Deletion (nonsense)	not provided	GPathogenic
Select item 2834792	NM_194248.3(OTOF):c.993_1003del (p.Thr332fs)	OTOF (T332fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2834440	NM_194248.3(OTOF):c.2171del (p.Arg724fs)	OTOF (R724fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2831401	NM_194248.3(OTOF):c.3549_3550insAA (p.Leu1184fs)	OTOF (L1184fs +2 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2830899	NM_194248.3(OTOF):c.3126+2T>C	OTOF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2827583	NM_194248.3(OTOF):c.4877_4880del (p.Asp1626fs)	OTOF (D1626fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2825972	NM_194248.3(OTOF):c.3925_4023+169delinsG	OTOF	Indel (splice donor variant)	not provided	GLikely pathogenic
Select item 2816862	NM_194248.3(OTOF):c.4301dup (p.Lys1435fs)	OTOF (K668fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2809788	NM_194248.3(OTOF):c.3258_3268dup (p.Ala1090fs)	OTOF (A343fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2809369	NM_194248.3(OTOF):c.3895-1G>A	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2807727	NM_194248.3(OTOF):c.5814-1_5833del	OTOF	Deletion (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 2804683	NM_194248.3(OTOF):c.4495del (p.Val1499fs)	OTOF (V732fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2804649	NM_194248.3(OTOF):c.2316-1G>A	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2796984	NM_194248.3(OTOF):c.139-2A>G	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2795215	NM_194248.3(OTOF):c.383G>A (p.Trp128Ter)	OTOF (W128*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2792402	NM_194248.3(OTOF):c.3408+1G>A	OTOF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2789894	NM_194248.3(OTOF):c.490G>T (p.Gly164Ter)	OTOF (G164*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2789776	NM_194248.3(OTOF):c.5196C>A (p.Tyr1732Ter)	OTOF (Y1732* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2789281	NM_194248.3(OTOF):c.1068G>A (p.Trp356Ter)	OTOF (W356*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2789038	NM_194248.3(OTOF):c.3409-1G>C	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2787036	NM_194248.3(OTOF):c.3159del (p.Lys1054fs)	OTOF (K1054fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2786417	NM_194248.3(OTOF):c.3321del (p.Ile1108fs)	OTOF (I418fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2779834	NM_194248.3(OTOF):c.510-1G>A	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2777898	NM_194248.3(OTOF):c.5013G>A (p.Trp1671Ter)	OTOF (W904* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2772958	NM_194248.3(OTOF):c.2300_2301del (p.Leu767fs)	LOC129933334, OTOF (L20fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2771754	NM_194248.3(OTOF):c.5188A>T (p.Lys1730Ter)	LOC112840921, OTOF (K1040* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2769206	NM_194248.3(OTOF):c.3286C>T (p.Gln1096Ter)	OTOF (Q406* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2767341	NM_194248.3(OTOF):c.2956del (p.Arg986fs)	OTOF (R296fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2766916	NM_194248.3(OTOF):c.2843del (p.Pro948fs)	OTOF (P948fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2763566	NM_194248.3(OTOF):c.727A>T (p.Lys243Ter)	OTOF (K243*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2761858	NM_194248.3(OTOF):c.328-1G>T	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2756569	NM_194248.3(OTOF):c.4091-2A>C	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2756526	NM_194248.3(OTOF):c.898-2A>G	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2755866	NM_194248.3(OTOF):c.493G>T (p.Glu165Ter)	OTOF (E165*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2755782	NM_194248.3(OTOF):c.328-1G>C	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2755075	NM_194248.3(OTOF):c.5308C>T (p.Gln1770Ter)	OTOF (Q1080* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2750904	NM_194248.3(OTOF):c.227+1G>A	OTOF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2750798	NM_194248.3(OTOF):c.1045+1G>C	OTOF	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2750633	NM_194248.3(OTOF):c.3982dup (p.Trp1328fs)	OTOF (W1328fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2748665	NM_194248.3(OTOF):c.5661del (p.Gly1888fs)	OTOF (G1121fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2746789	NM_194248.3(OTOF):c.765+2T>C	OTOF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2745375	NM_194248.3(OTOF):c.2941_2947del (p.Ser981fs)	OTOF (S981fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2734136	NM_194248.3(OTOF):c.3679C>T (p.Arg1227Ter)	OTOF (R1227* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2727210	NM_194248.3(OTOF):c.4959del (p.Asn1653fs)	OTOF (N963fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2725576	NM_194248.3(OTOF):c.1067G>A (p.Trp356Ter)	OTOF (W356*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2720491	NM_194248.3(OTOF):c.5206del (p.Val1736fs)	OTOF (V1736fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2717058	NM_194248.3(OTOF):c.354T>A (p.Tyr118Ter)	OTOF (Y118*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2710085	NM_194248.3(OTOF):c.1406_1410del (p.Val469fs)	OTOF (V469fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2707044	NM_194248.3(OTOF):c.1468_1469del (p.Pro490fs)	OTOF (P490fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2706062	NM_194248.3(OTOF):c.4385_4386del (p.Val1462fs)	OTOF (V772fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2705549	NM_194248.3(OTOF):c.960+1G>C	OTOF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2704193	NM_194248.3(OTOF):c.2521G>T (p.Glu841Ter)	OTOF (E151* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2702033	NM_194248.3(OTOF):c.3070G>T (p.Glu1024Ter)	OTOF (E277* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2701869	NM_194248.3(OTOF):c.1272C>G (p.Tyr424Ter)	OTOF (Y424*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2699471	NM_194248.3(OTOF):c.3481G>T (p.Glu1161Ter)	OTOF (E1161* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2698748	NM_194248.3(OTOF):c.2556del (p.Ile851_Trp852insTer)	OTOF	Deletion (nonsense)	not provided	GPathogenic
Select item 2693334	NM_194248.3(OTOF):c.1433G>A (p.Trp478Ter)	OTOF (W478*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2683891	NM_194248.3(OTOF):c.3321dup (p.Ile1108fs)	OTOF (I1108fs +2 more)	Duplication (frameshift variant)	Auditory neuropathy +1 more	GPathogenic/Likely pathogenic
Select item 2683866	NM_194248.3(OTOF):c.3399C>A (p.Tyr1133Ter)	OTOF (Y1133* +2 more)	Single nucleotide variant (nonsense)	Auditory neuropathy +1 more	GPathogenic
Select item 2501018	NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter)	OTOF (W1122* +2 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss +1 more	GPathogenic/Likely pathogenic
Select item 2445637	NM_194248.3(OTOF):c.1912+1G>C	OTOF	Single nucleotide variant (splice donor variant)	Tricho-oculo-dermo-vertebral syndrome +1 more	GLikely pathogenic
Select item 2445636	NM_194248.3(OTOF):c.4759A>T (p.Lys1587Ter)	OTOF (K820* +2 more)	Single nucleotide variant (nonsense)	Tricho-oculo-dermo-vertebral syndrome +1 more	GPathogenic
Select item 2203026	NM_194248.3(OTOF):c.4799+1G>T	OTOF	Single nucleotide variant (splice donor variant)	not provided	GPathogenic

<< First< Prev

Page of 2