ClinVar for Gene (Select 340990) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1283

<< First< Prev

Page of 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254836	NM_001292063.2(OTOG):c.7062dup (p.Asp2355Ter)	OTOG (D2355* +1 more)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 18B	GPathogenic
Select item 3253529	NM_001292063.2(OTOG):c.6292T>C (p.Cys2098Arg)	OTOG (C2098R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253157	NM_001292063.2(OTOG):c.156-14C>T	OTOG (R60C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252839	NM_001292063.2(OTOG):c.8108G>A (p.Arg2703His)	OTOG (R2703H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252793	NM_001292063.2(OTOG):c.8021C>T (p.Pro2674Leu)	OTOG (P2674L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252710	NM_001292063.2(OTOG):c.5322C>A (p.Ser1774Arg)	OTOG (S1774R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252490	NM_001292063.2(OTOG):c.3006+1G>A	OTOG	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3252425	NM_001292063.2(OTOG):c.2444C>T (p.Pro815Leu)	OTOG (P815L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252270	NM_001292063.2(OTOG):c.7022T>C (p.Met2341Thr)	OTOG (M2341T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252242	NM_001292063.2(OTOG):c.7523G>A (p.Arg2508His)	OTOG (R2508H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250840	NM_001292063.2(OTOG):c.2736C>T (p.Leu912=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3235251	NM_001292063.2(OTOG):c.2695C>T (p.Gln899Ter)	OTOG (Q899* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 18B	GPathogenic
Select item 3234466	NM_001292063.2(OTOG):c.3210G>A (p.Val1070=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233968	NM_001292063.2(OTOG):c.472C>A (p.Leu158Ile)	OTOG (L158I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076014	NM_001292063.2(OTOG):c.4768del (p.Arg1590fs)	OTOG (R1590fs +1 more)	Deletion (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 3075941	NM_001292063.2(OTOG):c.5394C>A (p.Leu1798=)	OTOG	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3075907	NM_001292063.2(OTOG):c.5616dup (p.Ala1873fs)	OTOG (A1873fs +1 more)	Duplication (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 3075883	NM_001292063.2(OTOG):c.7072+1G>A	OTOG	Single nucleotide variant (splice donor variant)	Rare genetic deafness	GLikely pathogenic
Select item 3075849	NM_001292063.2(OTOG):c.7633C>T (p.Gln2545Ter)	OTOG (Q2545* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness	GLikely pathogenic
Select item 3075848	NM_001292063.2(OTOG):c.3718A>T (p.Lys1240Ter)	OTOG (K1240* +1 more)	Single nucleotide variant (nonsense)	Rare genetic deafness	GLikely pathogenic
Select item 3075847	NM_001292063.2(OTOG):c.457_466del (p.Gly153fs)	OTOG (G153fs +1 more)	Deletion (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 3068420	NM_001292063.2(OTOG):c.2885C>A (p.Ser962Ter)	OTOG (S962* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 18B	GLikely pathogenic
Select item 3067645	NM_001292063.2(OTOG):c.94+74C>T	OTOG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3063197	GRCh37/hg19 11p15.1(chr11:17126882-17579212)x3	ABCC8, KCNJ11 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3057383	NM_001292063.2(OTOG):c.5829G>A (p.Thr1943=)	OTOG	Single nucleotide variant (synonymous variant)	OTOG-related disorder	GLikely benign
Select item 3054044	NM_001292063.2(OTOG):c.891G>A (p.Glu297=)	OTOG	Single nucleotide variant (synonymous variant)	OTOG-related disorder	GLikely benign
Select item 3052888	NM_001292063.2(OTOG):c.3312G>A (p.Gly1104=)	OTOG	Single nucleotide variant (synonymous variant)	OTOG-related disorder	GLikely benign
Select item 3052223	NM_001292063.2(OTOG):c.3612C>T (p.Ser1204=)	OTOG	Single nucleotide variant (synonymous variant)	OTOG-related disorder	GLikely benign
Select item 3050902	NM_001292063.2(OTOG):c.7917G>A (p.Pro2639=)	OTOG	Single nucleotide variant (synonymous variant)	OTOG-related disorder	GLikely benign
Select item 3045167	NM_001292063.2(OTOG):c.2606-8_2606-4del	OTOG	Microsatellite (intron variant)	OTOG-related disorder	GLikely benign
Select item 3042911	NM_001292063.2(OTOG):c.7439T>C (p.Leu2480Pro)	OTOG (L2480P +1 more)	Single nucleotide variant (missense variant)	OTOG-related disorder	GUncertain significance
Select item 3040277	NM_001292063.2(OTOG):c.8346G>A (p.Thr2782=)	OTOG	Single nucleotide variant (synonymous variant)	OTOG-related disorder	GLikely benign
Select item 3037378	NM_001292063.2(OTOG):c.6295C>A (p.Arg2099=)	OTOG	Single nucleotide variant (synonymous variant)	OTOG-related disorder	GLikely benign
Select item 3035305	NM_001292063.2(OTOG):c.6354G>C (p.Leu2118=)	OTOG	Single nucleotide variant (synonymous variant)	OTOG-related disorder	GLikely benign
Select item 3033159	NM_001292063.2(OTOG):c.540+3G>A	OTOG	Single nucleotide variant (intron variant)	OTOG-related disorder	GLikely benign
Select item 3031894	NM_001292063.2(OTOG):c.4089G>A (p.Ala1363=)	OTOG	Single nucleotide variant (synonymous variant)	OTOG-related disorder	GLikely benign
Select item 3031250	NM_001292063.2(OTOG):c.8298C>T (p.Pro2766=)	OTOG	Single nucleotide variant (synonymous variant)	OTOG-related disorder	GLikely benign
Select item 3031044	NM_001292063.2(OTOG):c.2606-16TCT[2]	OTOG	Microsatellite (intron variant)	OTOG-related disorder	GLikely benign
Select item 3030226	NM_001292063.2(OTOG):c.7131C>A (p.Pro2377=)	OTOG	Single nucleotide variant (synonymous variant)	OTOG-related disorder	GLikely benign
Select item 3029255	NM_001292063.2(OTOG):c.6542T>A (p.Leu2181Ter)	OTOG (L2181* +1 more)	Single nucleotide variant (nonsense)	OTOG-related disorder	GLikely pathogenic
Select item 3027148	NM_001292063.2(OTOG):c.906G>A (p.Trp302Ter)	OTOG (W302* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3026129	NM_001292063.2(OTOG):c.6061G>A (p.Val2021Ile)	OTOG (V2021I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025813	NM_001292063.2(OTOG):c.6132C>T (p.Ala2044=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025611	NM_001292063.2(OTOG):c.5284T>A (p.Ser1762Thr)	OTOG (S1762T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024133	NM_001292063.2(OTOG):c.6453G>A (p.Trp2151Ter)	OTOG (W2151* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 18B	GPathogenic
Select item 3021825	NM_001292063.2(OTOG):c.2977G>A (p.Val993Met)	OTOG (V1005M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021721	NM_001292063.2(OTOG):c.6292+18C>T	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021582	NM_001292063.2(OTOG):c.3630C>T (p.His1210=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020792	NM_001292063.2(OTOG):c.2759+19G>A	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017224	NM_001292063.2(OTOG):c.5362A>G (p.Met1788Val)	OTOG (M1788V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007148	NM_001292063.2(OTOG):c.5586C>G (p.Pro1862=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005692	NM_001292063.2(OTOG):c.954G>A (p.Leu318=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005291	NM_001292063.2(OTOG):c.8541+15C>T	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002577	NM_001292063.2(OTOG):c.8011+19G>A	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002484	NM_001292063.2(OTOG):c.2239C>T (p.Leu747=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001930	NM_001292063.2(OTOG):c.7749T>C (p.Thr2583=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000244	NM_001292063.2(OTOG):c.660-14G>T	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999413	NM_001292063.2(OTOG):c.3079A>G (p.Lys1027Glu)	OTOG (K1027E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992748	NM_001292063.2(OTOG):c.705T>G (p.Leu235=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991225	NM_001292063.2(OTOG):c.6713-9C>T	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986819	NM_001292063.2(OTOG):c.755del (p.Asp252fs)	OTOG (D252fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2985507	NM_001292063.2(OTOG):c.7053G>C (p.Trp2351Cys)	OTOG (W2363C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985506	NM_001292063.2(OTOG):c.6991C>T (p.Pro2331Ser)	OTOG (P2331S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985130	NM_001292063.2(OTOG):c.2867+10G>A	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982025	NM_001292063.2(OTOG):c.2859C>T (p.Cys953=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980041	NM_001292063.2(OTOG):c.6942G>A (p.Pro2314=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976972	NM_001292063.2(OTOG):c.2839dup (p.Asp947fs)	OTOG (D959fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2976936	NM_001292063.2(OTOG):c.3669C>A (p.Thr1223=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976170	NM_001292063.2(OTOG):c.6408C>A (p.Val2136=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975724	NM_001292063.2(OTOG):c.8012-19G>T	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974445	NM_001292063.2(OTOG):c.293-3C>A	OTOG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2970804	NM_001292063.2(OTOG):c.6075G>A (p.Ala2025=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970553	NM_001292063.2(OTOG):c.8012-20C>T	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969825	NM_001292063.2(OTOG):c.70G>A (p.Glu24Lys)	OTOG (E24K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968543	NM_001292063.2(OTOG):c.5214C>T (p.Ala1738=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967241	NM_001292063.2(OTOG):c.2191C>T (p.Arg731Cys)	OTOG (R731C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965076	NM_001292063.2(OTOG):c.1342+17C>T	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963650	NM_001292063.2(OTOG):c.291C>T (p.Ser97=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2960324	NM_001292063.2(OTOG):c.7936-15C>T	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959657	NM_001292063.2(OTOG):c.8118C>T (p.Thr2706=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958849	NM_001292063.2(OTOG):c.1343-17C>G	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958460	NM_001292063.2(OTOG):c.8424T>G (p.Gly2808=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956421	NM_001292063.2(OTOG):c.8416-17C>G	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956333	NM_001292063.2(OTOG):c.7481-13T>A	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954990	NM_001292063.2(OTOG):c.5736C>T (p.Ile1912=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919590	NM_001292063.2(OTOG):c.2197G>C (p.Gly733Arg)	OTOG (G745R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904106	NM_001292063.2(OTOG):c.1368C>T (p.Cys456=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901800	NM_001292063.2(OTOG):c.94+77G>A	OTOG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2900723	NM_001292063.2(OTOG):c.6438+10C>T	OTOG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899188	NM_001292063.2(OTOG):c.1056C>T (p.Tyr352=)	OTOG	Single nucleotide variant (synonymous variant)	OTOG-related disorder +1 more	GLikely benign
Select item 2899183	NM_001292063.2(OTOG):c.3143G>A (p.Ser1048Asn)	OTOG (S1048N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897828	NM_001292063.2(OTOG):c.2115G>A (p.Thr705=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896859	NM_001292063.2(OTOG):c.5343G>A (p.Gly1781=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896431	NM_001292063.2(OTOG):c.6178C>T (p.Arg2060Cys)	OTOG (R2060C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895980	NM_001292063.2(OTOG):c.6850C>T (p.Arg2284Cys)	OTOG (R2284C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2895861	NM_001292063.2(OTOG):c.6996C>T (p.Cys2332=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894116	NM_001292063.2(OTOG):c.3303C>T (p.Gly1101=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892956	NM_001292063.2(OTOG):c.7992C>G (p.Gly2664=)	OTOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888556	NM_001292063.2(OTOG):c.6851G>A (p.Arg2284His)	OTOG (R2284H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888190	NM_001292063.2(OTOG):c.959G>A (p.Arg320His)	OTOG (R332H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 13