ClinVar for Gene (Select 9381) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361953	NM_194248.3(OTOF):c.1822G>A (p.Glu608Lys)	OTOF (E608K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359984	NM_194248.3(OTOF):c.5128A>G (p.Met1710Val)	OTOF (M1020V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353113	NM_194323.3(OTOF):c.3555G>A (p.Lys1185=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	OTOF-related disorder	GLikely benign
Select item 3342509	NM_194248.3(OTOF):c.4642del (p.Glu1548fs)	OTOF (E1548fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3339907	NM_194248.3(OTOF):c.2858T>A (p.Val953Asp)	OTOF (V206D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339729	NM_194248.3(OTOF):c.2891C>G (p.Ala964Gly)	OTOF (A217G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339665	NM_194248.3(OTOF):c.1579+1G>A	OTOF	Single nucleotide variant (splice donor variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3339298	NM_194248.3(OTOF):c.2866+6_2866+9del	OTOF	Microsatellite (splice donor variant)	not specified	GUncertain significance
Select item 3337426	NM_194248.3(OTOF):c.1422T>G (p.Tyr474Ter)	OTOF (Y474*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3337425	NM_194248.3(OTOF):c.4146G>T (p.Lys1382Asn)	OTOF (K1382N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3303639	NM_194248.3(OTOF):c.913T>C (p.Phe305Leu)	OTOF (F305L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303637	NM_194248.3(OTOF):c.3109T>C (p.Tyr1037His)	OTOF (Y1037H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303636	NM_194248.3(OTOF):c.305A>T (p.Asp102Val)	OTOF (D102V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303635	NM_194248.3(OTOF):c.4609C>T (p.Leu1537Phe)	OTOF (L1537F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303634	NM_194248.3(OTOF):c.4489T>C (p.Tyr1497His)	OTOF (Y730H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257276	NM_194248.3(OTOF):c.1861A>G (p.Met621Val)	OTOF (M621V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252632	NM_194248.3(OTOF):c.2171G>A (p.Arg724His)	OTOF (R724H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251707	NM_194248.3(OTOF):c.5524G>A (p.Asp1842Asn)	OTOF (D1075N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247617	NC_000002.11:g.(?_26699834)_(26701396_?)del	OTOF	Deletion	not provided	GPathogenic
Select item 3247616	NC_000002.11:g.(?_26717790)_(26726733_?)dup	OTOF	Duplication	not provided	GLikely pathogenic
Select item 3247615	NC_000002.11:g.(?_26698207)_(26726733_?)dup	OTOF	Duplication	not provided	GLikely pathogenic
Select item 3247614	NC_000002.11:g.(?_26695367)_(26741997_?)dup	OTOF	Duplication	not provided	GLikely pathogenic
Select item 3247612	NC_000002.11:g.(?_26712059)_(26750808_?)dup	OTOF	Duplication	not provided	GLikely pathogenic
Select item 3247611	NC_000002.11:g.(?_26680908)_(26683918_?)del	OTOF	Deletion	not provided	GPathogenic
Select item 3247610	NC_000002.11:g.(?_26686812)_(26691362_?)del	OTOF	Deletion	not provided	GPathogenic
Select item 3247609	NC_000002.11:g.(?_26680908)_(26760662_?)del	OTOF	Deletion	not provided	GPathogenic
Select item 3247608	NC_000002.11:g.(?_26760564)_(26760662_?)del	OTOF	Deletion	not provided	GPathogenic
Select item 3247607	NC_000002.11:g.(?_26707322)_(26707521_?)del	OTOF	Deletion	not provided	GPathogenic
Select item 3247606	NC_000002.11:g.(?_26781341)_(26781439_?)del	OTOF	Deletion	not provided	GPathogenic
Select item 3247605	NC_000002.11:g.(?_26680908)_(26781439_?)del	OTOF	Deletion	not provided	GPathogenic
Select item 3247339	NC_000002.11:g.(?_26486228)_(26781439_?)del	ADGRF3, DRC1 +3 more	Deletion	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 3236447	NM_194248.3(OTOF):c.2499_2500insT (p.Lys834Ter)	OTOF (K144* +2 more)	Insertion (nonsense)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic
Select item 3207240	NM_194248.3(OTOF):c.947T>A (p.Ile316Asn)	OTOF (I316N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207239	NM_194248.3(OTOF):c.941A>G (p.Asp314Gly)	OTOF (D314G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207238	NM_194248.3(OTOF):c.784G>A (p.Glu262Lys)	OTOF (E262K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207237	NM_194248.3(OTOF):c.628A>G (p.Ile210Val)	OTOF (I210V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207235	NM_194248.3(OTOF):c.5423T>A (p.Ile1808Asn)	OTOF (I1041N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207234	NM_194248.3(OTOF):c.5348T>G (p.Leu1783Arg)	OTOF (L1783R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207233	NM_194248.3(OTOF):c.5245G>A (p.Asp1749Asn)	OTOF (D1749N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207231	NM_194248.3(OTOF):c.5193G>T (p.Lys1731Asn)	OTOF (K1731N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207230	NM_194248.3(OTOF):c.5017G>A (p.Asp1673Asn)	LOC112840921, OTOF (D906N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207229	NM_194248.3(OTOF):c.4777G>A (p.Gly1593Ser)	OTOF (G1593S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207228	NM_194248.3(OTOF):c.4447G>C (p.Gly1483Arg)	OTOF (G716R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207226	NM_194248.3(OTOF):c.4429A>G (p.Thr1477Ala)	OTOF (T787A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207225	NM_194248.3(OTOF):c.382T>C (p.Trp128Arg)	OTOF (W128R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207223	NM_194248.3(OTOF):c.3337G>A (p.Asp1113Asn)	OTOF (D1113N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207221	NM_194248.3(OTOF):c.2530C>A (p.His844Asn)	OTOF (H154N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207220	NM_194248.3(OTOF):c.2354C>T (p.Ser785Leu)	OTOF (S785L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207218	NM_194248.3(OTOF):c.1531G>A (p.Gly511Ser)	OTOF (G511S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3207217	NM_194248.3(OTOF):c.142T>C (p.Phe48Leu)	OTOF (F48L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3067780	NM_194248.3(OTOF):c.328-8C>G	OTOF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3065795	NM_194248.3(OTOF):c.3305A>G (p.Lys1102Arg)	OTOF (K1102R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 3063899	NM_194248.3(OTOF):c.5712+6C>T	OTOF	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3063755	NM_194248.3(OTOF):c.5813A>G (p.Asn1938Ser)	OTOF (N1171S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061939	NM_194248.3(OTOF):c.1493A>C (p.Gln498Pro)	OTOF (Q498P)	Single nucleotide variant (missense variant)	Auditory neuropathy spectrum disorder	GLikely pathogenic
Select item 3061933	NM_194248.3(OTOF):c.1535C>T (p.Thr512Ile)	OTOF (T512I)	Single nucleotide variant (missense variant)	Auditory neuropathy spectrum disorder	GLikely pathogenic
Select item 3061931	NM_194248.3(OTOF):c.1697G>C (p.Arg566Pro)	OTOF (R566P)	Single nucleotide variant (missense variant)	Auditory neuropathy spectrum disorder	GPathogenic
Select item 3061930	NM_194248.3(OTOF):c.2712G>A (p.Trp904Ter)	OTOF (W157* +2 more)	Single nucleotide variant (nonsense)	Auditory neuropathy spectrum disorder	GPathogenic
Select item 3054158	NM_194248.3(OTOF):c.5780C>T (p.Ala1927Val)	OTOF (A1160V +2 more)	Single nucleotide variant (missense variant)	OTOF-related disorder	GUncertain significance
Select item 3047844	NM_194248.3(OTOF):c.4558C>T (p.Arg1520Trp)	OTOF (R1520W +2 more)	Single nucleotide variant (missense variant)	OTOF-related disorder	GUncertain significance
Select item 3036145	NM_194248.3(OTOF):c.1966C>T (p.Arg656Trp)	OTOF (R656W)	Single nucleotide variant (missense variant)	OTOF-related disorder	GUncertain significance
Select item 3023944	NM_194248.3(OTOF):c.2406+19G>A	OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3023721	NM_194248.3(OTOF):c.4641C>G (p.Ile1547Met)	OTOF (I780M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3023168	NM_194248.3(OTOF):c.1128C>T (p.Asp376=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023029	NM_194248.3(OTOF):c.710+11G>A	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023003	NM_194248.3(OTOF):c.4506G>A (p.Thr1502=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022827	NM_194248.3(OTOF):c.5484C>T (p.Leu1828=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022604	NM_194248.3(OTOF):c.4629-7C>T	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022583	NM_194248.3(OTOF):c.328-18C>T	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022565	NM_194248.3(OTOF):c.3289-1G>C	OTOF	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3022556	NM_194248.3(OTOF):c.2523+17C>T	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022519	NM_194248.3(OTOF):c.583+11T>C	LOC129933336, OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022472	NM_194248.3(OTOF):c.2406+13C>G	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022352	NM_194248.3(OTOF):c.1236C>T (p.Pro412=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022252	NM_194248.3(OTOF):c.5534-4A>G	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021836	NM_194248.3(OTOF):c.3439C>T (p.Arg1147Trp)	OTOF (R400W +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3021724	NM_194248.3(OTOF):c.5475C>T (p.Pro1825=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021444	NM_194248.3(OTOF):c.103C>T (p.Leu35=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021312	NM_194248.3(OTOF):c.1912+18G>A	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021271	NM_194248.3(OTOF):c.1912+17C>T	OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021199	NM_194248.3(OTOF):c.3754C>T (p.Arg1252Cys)	OTOF (R1252C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3021194	NM_194248.3(OTOF):c.4628+13G>T	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021188	NM_194248.3(OTOF):c.2992-7G>T	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020409	NM_194248.3(OTOF):c.3288+17G>A	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020129	NM_194248.3(OTOF):c.1164G>A (p.Thr388=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019349	NM_194248.3(OTOF):c.898-6dup	OTOF	Duplication (intron variant)	not provided	GBenign
Select item 3019037	NM_194248.3(OTOF):c.120T>C (p.Asp40=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018635	NM_194248.3(OTOF):c.969C>T (p.His323=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018527	NM_194248.3(OTOF):c.3981C>T (p.Asp1327=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017824	NM_194248.3(OTOF):c.5883G>A (p.Thr1961=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017805	NM_194248.3(OTOF):c.2089G>A (p.Asp697Asn)	OTOF (D697N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3017535	NM_194248.3(OTOF):c.3789C>T (p.Ser1263=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 3016902	NM_194248.3(OTOF):c.594G>A (p.Ala198=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016691	NM_194248.3(OTOF):c.5616G>A (p.Glu1872=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015918	NM_194248.3(OTOF):c.4194C>T (p.Pro1398=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015903	NM_194248.3(OTOF):c.1986G>A (p.Glu662=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015601	NM_194248.3(OTOF):c.4023+10C>T	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015353	NM_194248.3(OTOF):c.4332C>G (p.Thr1444=)	OTOF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014518	NM_194248.3(OTOF):c.5455G>A (p.Glu1819Lys)	OTOF (E1819K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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