9381[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	ABHD1, ADCY3 +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	LOC129933291, LOC129933292 +142 more	Copy number loss	See cases	GUncertain significance
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 897886	NM_194248.3(OTOF):c.*936G>A	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 335418	NM_194248.3(OTOF):c.*898dup	OTOF	Duplication (3 prime UTR variant)	Nonsyndromic Hearing Loss, Recessive	GLikely benign
Select item 335419	NM_194248.3(OTOF):c.*898C>A	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 335420	NM_194248.3(OTOF):c.*867C>T	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 897887	NM_194248.3(OTOF):c.*812C>T	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 335421	NM_194248.3(OTOF):c.*770T>A	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 897888	NM_194248.3(OTOF):c.*769G>C	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 897889	NM_194248.3(OTOF):c.*714A>T	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 335422	NM_194248.3(OTOF):c.*697G>A	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GBenign
Select item 335423	NM_194248.3(OTOF):c.*696A>G	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GBenign
Select item 335424	NM_194248.3(OTOF):c.*650C>A	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely benign
Select item 899026	NM_194248.3(OTOF):c.*610C>T	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 899027	NM_194248.3(OTOF):c.*474C>T	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 335425	NM_194248.3(OTOF):c.*440T>C	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 335426	NM_194248.3(OTOF):c.*372C>T	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GBenign/Likely benign
Select item 899028	NM_194248.3(OTOF):c.*348G>T	OTOF	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335427	NM_194248.3(OTOF):c.*341G>A	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 894898	NM_194248.3(OTOF):c.*220C>T	OTOF	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GLikely benign
Select item 505347	NM_194248.3(OTOF):c.*204G>A	OTOF	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 916017	NM_194323.3(OTOF):c.3691T>C (p.Ter1231Arg)	OTOF	Single nucleotide variant (stop lost +1 more)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 2506117	NM_194323.3(OTOF):c.3678G>T (p.Lys1226Asn)	OTOF (K1226N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 517409	NM_194323.3(OTOF):c.3674A>G (p.Lys1225Arg)	OTOF (K1225R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 6141	NM_194323.3(OTOF):c.3659C>G (p.Pro1220Arg)	OTOF (P1220R +1 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy, autosomal recessive, 1	GPathogenic
Select item 1355112	NM_194323.3(OTOF):c.3631A>T (p.Met1211Leu)	OTOF (M1211L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 505847	NM_194323.3(OTOF):c.3631A>G (p.Met1211Val)	OTOF (M1211V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 180120	NM_194323.3(OTOF):c.3624del (p.Leu1209fs)	OTOF (L1976fs +1 more)	Deletion (frameshift variant +1 more)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 178626	NM_194323.3(OTOF):c.3621G>A (p.Leu1207=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2903336	NM_194323.3(OTOF):c.3615G>A (p.Ala1205=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 227759	NM_194323.3(OTOF):c.3600C>T (p.Ile1200=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2428934	NM_194323.3(OTOF):c.3563A>G (p.Lys1188Arg)	OTOF (K1188R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2506680	NM_194323.3(OTOF):c.3560_3562del (p.Ile1187del)	OTOF (I1187del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 2683865	NM_194323.3(OTOF):c.3532del (p.Val1178fs)	OTOF (V1178fs +1 more)	Deletion (frameshift variant +1 more)	Auditory neuropathy	GPathogenic
Select item 2498807	NM_194323.3(OTOF):c.3531C>T (p.Phe1177=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1254040	NM_194323.3(OTOF):c.3522C>T (p.Asp1174=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 548986	NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln)	OTOF (R1939Q +1 more)	Single nucleotide variant (missense variant +1 more)	OTOF-related condition +2 more	GPathogenic
Select item 562079	NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp)	OTOF (R1172W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 894899	NM_194248.3(OTOF):c.*18-4C>T	OTOF	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 9	GUncertain significance
Select item 1331159	NM_194248.3(OTOF):c.*18-7T>G	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832378	NM_194248.3(OTOF):c.*18-18CT[2]	OTOF	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1263465	NM_194248.3(OTOF):c.*18-30G>A	OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223306	NM_194248.3(OTOF):c.*17+230A>G	OTOF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218297	NM_194248.3(OTOF):c.17+143_17+144insCG	OTOF	Insertion (intron variant)	not provided	GLikely benign
Select item 1236693	NM_194248.3(OTOF):c.17+59_17+60insACAT	OTOF	Insertion (intron variant)	not provided	GBenign
Select item 1187287	NM_194248.3(OTOF):c.*17+47G>A	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 228317	NM_194248.3(OTOF):c.*10CCT[1]	OTOF	Microsatellite (3 prime UTR variant +1 more)	not specified	Gnot provided
Select item 667143	NM_194248.3(OTOF):c.5991C>T (p.Ala1997=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2175181	NM_194248.3(OTOF):c.5985C>T (p.Leu1995=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2860795	NM_194248.3(OTOF):c.5970G>A (p.Leu1990=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988827	NM_194248.3(OTOF):c.5967C>T (p.Tyr1989=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 21863	NM_194248.3(OTOF):c.5960C>G (p.Pro1987Arg)	OTOF (P1987R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9	Gnot provided
Select item 1532499	NM_194248.3(OTOF):c.5958G>C (p.Val1986=)	OTOF	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2835351	NM_194248.3(OTOF):c.5952C>T (p.Tyr1984=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004583	NM_194248.3(OTOF):c.5943G>A (p.Leu1981=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796799	NM_194248.3(OTOF):c.5941C>T (p.Leu1981=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2794433	NM_194248.3(OTOF):c.5940C>G (p.Ala1980=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1970292	NM_194248.3(OTOF):c.5940C>T (p.Ala1980=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 417910	NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser)	OTOF (A1980S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2914418	NM_194248.3(OTOF):c.5937C>T (p.Leu1979=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012393	NM_194248.3(OTOF):c.5928C>G (p.Leu1976=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 177793	NM_194248.3(OTOF):c.5925del (p.Leu1976fs)	OTOF (L1976fs +2 more)	Deletion (frameshift variant +1 more)	Rare genetic deafness	GLikely pathogenic
Select item 164832	NM_194248.3(OTOF):c.5922G>A (p.Leu1974=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2694832	NM_194248.3(OTOF):c.5917C>T (p.Leu1973=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979157	NM_194248.3(OTOF):c.5916C>T (p.Leu1972=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2698575	NM_194248.3(OTOF):c.5907G>A (p.Leu1969=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1958401	NM_194248.3(OTOF):c.5907G>C (p.Leu1969=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2746694	NM_194248.3(OTOF):c.5904A>G (p.Lys1968=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1497506	NM_194248.3(OTOF):c.5903A>G (p.Lys1968Arg)	OTOF (K1278R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GUncertain significance
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 3017824	NM_194248.3(OTOF):c.5883G>A (p.Thr1961=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 666733	NM_194248.3(OTOF):c.5882C>T (p.Thr1961Met)	OTOF (T1194M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 179540	NM_194248.3(OTOF):c.5868C>T (p.Tyr1956=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2434523	NM_194248.3(OTOF):c.5864G>A (p.Arg1955His)	OTOF (R1188H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GConflicting classifications of pathogenicity
Select item 2989686	NM_194248.3(OTOF):c.5859G>A (p.Ser1953=)	OTOF	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2896347	NM_194248.3(OTOF):c.5859G>T (p.Ser1953=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2397396	NM_194248.3(OTOF):c.5858C>T (p.Ser1953Leu)	OTOF (S1186L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2807727	NM_194248.3(OTOF):c.5814-1_5833del	OTOF	Deletion (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 1703045	NM_194248.3(OTOF):c.5833del (p.Ile1945fs)	OTOF (I1178fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9	GPathogenic
Select item 593393	NM_194248.3(OTOF):c.5829C>T (p.Ser1943=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 48272	NM_194248.3(OTOF):c.5826G>A (p.Thr1942=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1696044	NM_194248.3(OTOF):c.5821G>T (p.Asp1941Tyr)	OTOF (D1174Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739187	NM_194248.3(OTOF):c.5820C>T (p.Pro1940=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 48271	NM_194248.3(OTOF):c.5817G>T (p.Arg1939=)	OTOF	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 6136	NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)	OTOF (R1939Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9 +1 more	GPathogenic
Select item 65813	NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp)	OTOF (R1939W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3012694	NM_194248.3(OTOF):c.5814-6C>T	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2183925	NM_194248.3(OTOF):c.5814-7A>T	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814353	NM_194248.3(OTOF):c.5814-8T>C	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970825	NM_194248.3(OTOF):c.5814-9A>G	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859248	NM_194248.3(OTOF):c.5814-13C>T	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979075	NM_194248.3(OTOF):c.5814-14C>A	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966232	NM_194248.3(OTOF):c.5814-17T>C	OTOF	Single nucleotide variant (intron variant)	not provided	GLikely benign

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