220074[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 881721	NM_001145308.4(LRTOMT):c.-885C>T	LRTOMT, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305971	NM_001145308.4(LRTOMT):c.-816C>T	NUMA1, LRTOMT	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305972	NM_001145308.4(LRTOMT):c.-762C>A	LRTOMT, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881722	NM_001145308.4(LRTOMT):c.-761C>T	NUMA1, LRTOMT	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305973	NM_001145308.4(LRTOMT):c.-743G>A	LRTOMT, NUMA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely benign
Select item 881723	NM_001145308.4(LRTOMT):c.-725T>G	LRTOMT, NUMA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305974	NM_001145308.4(LRTOMT):c.-705A>G	LRTOMT, NUMA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882878	NM_001145308.4(LRTOMT):c.-703C>G	LRTOMT, NUMA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305975	NM_001145308.4(LRTOMT):c.-602G>A	LRTOMT	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 305976	NM_001145308.4(LRTOMT):c.-554G>A	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305977	NM_001145308.4(LRTOMT):c.-526T>A	LRTOMT	Single nucleotide variant	Hearing loss, autosomal recessive	GUncertain significance
Select item 305978	NM_001145308.4(LRTOMT):c.-481G>T	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 883667	NM_001145308.4(LRTOMT):c.-453A>G	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 883668	NM_001145308.4(LRTOMT):c.-422T>C	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305979	NM_001145308.4(LRTOMT):c.-409G>A	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305980	NM_001145308.4(LRTOMT):c.-379T>C	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305981	NM_001145308.5(LRTOMT):c.-344G>A	LRRC51, LRTOMT	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 632173	NM_001145308.5(LRTOMT):c.-322+1G>T	LRRC51, LRTOMT	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305982	NM_001145308.5(LRTOMT):c.-322+5G>A	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1246309	NM_001145308.5(LRTOMT):c.-321-5438G>A	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196077	NM_001145308.5(LRTOMT):c.-321-4940C>T	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251059	NM_001145308.5(LRTOMT):c.-321-4874A>C	LRTOMT, LRRC51	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202287	NM_001145308.5(LRTOMT):c.-321-4662A>G	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247784	NM_001145308.5(LRTOMT):c.-321-4577T>C	LRTOMT, LRRC51	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642116	NM_001145308.5(LRTOMT):c.-321-4376G>A	LRTOMT, LRRC51 (E13K)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 1344959	NM_145309.6(LRRC51):c.52T>C (p.Tyr18His)	LRRC51, LRTOMT (Y18H)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 1205440	NM_001145308.5(LRTOMT):c.-321-109A>G	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682806	NM_001145308.5(LRTOMT):c.-321-29G>A	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3075852	NM_145309.6(LRRC51):c.83-1_83del	LRRC51, LRTOMT	Deletion (splice acceptor variant)	Rare genetic deafness	GLikely pathogenic
Select item 305983	NM_001145308.5(LRTOMT):c.-305G>A	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 228838	NM_001145308.5(LRTOMT):c.-289C>T	LRRC51, LRTOMT (R39* +1 more)	Single nucleotide variant (nonsense +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1305224	NM_001145308.5(LRTOMT):c.-288G>A	LRRC51, LRTOMT (R21Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 305984	NM_001145308.5(LRTOMT):c.-256C>G	LRRC51, LRTOMT (L50V +1 more)	Single nucleotide variant (missense variant +2 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 305985	NM_001145308.5(LRTOMT):c.-254G>T	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881327	NM_145309.6(LRTOMT):c.230A>G (p.His77Arg)	LRRC51, LRTOMT (H77R +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 666628	NM_145309.6(LRTOMT):c.253G>A (p.Asp85Asn)	LRRC51, LRTOMT (D67N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GBenign
Select item 305986	NM_145309.6(LRRC51):c.255C>T (p.Asp85=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GConflicting classifications of pathogenicity
Select item 305987	NM_001145308.5(LRTOMT):c.-123T>C	LRRC51, LRTOMT (I94T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1244194	NM_001145308.5(LRTOMT):c.-116+19G>C	LRRC51, LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258396	NM_001145308.5(LRTOMT):c.-115-261GA[4]	LRRC51, LRTOMT	Microsatellite (intron variant)	not provided	GBenign
Select item 804994	NM_145309.6(LRTOMT):c.315T>C (p.Ser105=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1699172	NM_145309.6(LRRC51):c.330del (p.His110fs)	LRRC51, LRTOMT (H110fs +1 more)	Deletion (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1687602	NM_145309.6(LRRC51):c.340_346del (p.Ile114fs)	LRRC51, LRTOMT (I114fs +1 more)	Deletion (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 305988	NM_001145308.5(LRTOMT):c.-57G>A	LRRC51, LRTOMT (R116H +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 226718	NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)	LRRC51, LRTOMT (G118R +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GConflicting classifications of pathogenicity
Select item 305989	NM_001145308.5(LRTOMT):c.-16del	LRRC51, LRTOMT (R112fs +1 more)	Deletion (frameshift variant +2 more)	Hearing loss, autosomal recessive	GUncertain significance
Select item 3039178	NM_145309.6(LRRC51):c.409A>G (p.Asn137Asp)	LRRC51, LRTOMT (N119D +1 more)	Single nucleotide variant (missense variant +2 more)	LRTOMT-related disorder	GLikely benign
Select item 740260	NM_145309.6(LRTOMT):c.437+8C>T	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2972147	NM_001145308.5(LRTOMT):c.34+18G>A	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1214279	NM_001145308.5(LRTOMT):c.34+309G>A	LRTOMT, LRRC51 (R137H +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 3034517	NM_145309.6(LRRC51):c.468C>T (p.Ile156=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +3 more)	LRTOMT-related disorder	GLikely benign
Select item 429950	NM_001145308.5(LRTOMT):c.34+347G>A	LRRC51, LRTOMT (D150N +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1216389	NM_001145308.5(LRTOMT):c.34+373A>G	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3042061	NM_145309.6(LRRC51):c.529C>T (p.Arg177Cys)	LRRC51, LRTOMT (R159C +1 more)	Single nucleotide variant (missense variant +3 more)	LRTOMT-related disorder	GLikely benign
Select item 1187305	NM_001145308.5(LRTOMT):c.34+387A>C	LRRC51, LRTOMT (K163T +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 1186617	NM_001145308.5(LRTOMT):c.34+446C>T	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1208866	NM_001145308.5(LRTOMT):c.34+461A>G	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1230538	NM_001145308.5(LRTOMT):c.34+594dup	LRRC51, LRTOMT	Duplication (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1228800	NM_001145308.5(LRTOMT):c.34+594del	LRRC51, LRTOMT	Deletion (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1049568	NM_145309.6(LRRC51):c.*1201A>C	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GBenign
Select item 1215477	NM_001145308.5(LRTOMT):c.34+1684C>T	LRRC51, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1245915	NM_001145308.5(LRTOMT):c.34+1914T>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642117	NM_017907.3(LAMTOR1):c.420C>T (p.Tyr140=)	LAMTOR1, LRTOMT	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 3117760	NM_017907.3(LAMTOR1):c.351A>T (p.Gln117His)	LAMTOR1, LRTOMT (Q117H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117759	NM_017907.3(LAMTOR1):c.326C>T (p.Pro109Leu)	LAMTOR1, LRTOMT (P109L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545677	NM_017907.3(LAMTOR1):c.191A>T (p.Asn64Ile)	LAMTOR1, LRTOMT (N64I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365472	NM_017907.3(LAMTOR1):c.116A>T (p.Asn39Ile)	LAMTOR1, LRTOMT (N39I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516976	NM_017907.3(LAMTOR1):c.97C>G (p.Leu33Val)	LAMTOR1, LRTOMT (L33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221537	NM_017907.3(LAMTOR1):c.73C>T (p.Pro25Ser)	LAMTOR1, LRTOMT (P25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341365	NM_017907.3(LAMTOR1):c.56G>A (p.Arg19Gln)	LAMTOR1, LRTOMT (R19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296876	NM_017907.3(LAMTOR1):c.53A>C (p.Glu18Ala)	LAMTOR1, LRTOMT (E18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1258131	NM_001145308.5(LRTOMT):c.35-44T>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2116215	NM_001145308.5(LRTOMT):c.35-16G>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 797446	NM_001145308.5(LRTOMT):c.35-5C>T	LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 666709	NM_001145308.5(LRTOMT):c.35-4G>A	LRTOMT	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 228841	NM_001145308.5(LRTOMT):c.53A>C (p.Asp18Ala)	LRTOMT (D18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1353600	NM_001145308.5(LRTOMT):c.55C>A (p.Leu19Met)	LRTOMT (L19M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413443	NM_001145308.5(LRTOMT):c.61T>C (p.Cys21Arg)	LRTOMT (C21R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 44042	NM_001145308.5(LRTOMT):c.69G>C (p.Leu23=)	LRTOMT	Single nucleotide variant (synonymous variant)	Hearing loss, autosomal recessive +2 more	GBenign/Likely benign
Select item 3014951	NM_001145308.5(LRTOMT):c.78G>C (p.Gln26His)	LRTOMT (Q26H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682807	NM_001145308.5(LRTOMT):c.83+34T>A	LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183223	NM_001145308.5(LRTOMT):c.83+161G>A	LRTOMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180036	NM_001145308.5(LRTOMT):c.84-234_84-232del	LRTOMT	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1186805	NM_001145308.5(LRTOMT):c.84-216G>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650797	NM_001145308.5(LRTOMT):c.84-18T>C	LRTOMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3292134	NM_001145308.5(LRTOMT):c.85G>A (p.Ala29Thr)	LRTOMT, TOMT (A29T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1376047	NM_001145308.5(LRTOMT):c.96_109del (p.Thr33fs)	LRTOMT, TOMT (T33fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 227532	NM_001145308.5(LRTOMT):c.117A>G (p.Ala39=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 227533	NM_001145308.5(LRTOMT):c.118T>C (p.Leu40=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1333659	NM_001145308.5(LRTOMT):c.154C>T (p.Arg52Trp)	LRTOMT, TOMT (R19W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1810173	NM_001145308.5(LRTOMT):c.155G>A (p.Arg52Gln)	LRTOMT, TOMT (R19Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2326892	NM_001145308.5(LRTOMT):c.160C>T (p.Arg54Trp)	LRTOMT, TOMT (R54W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1333694	NM_001145308.5(LRTOMT):c.161G>A (p.Arg54Gln)	LRTOMT, TOMT (R21Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 163941	NM_001145308.5(LRTOMT):c.165C>G (p.His55Gln)	LRTOMT, TOMT (H55Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 632174	NM_001145308.5(LRTOMT):c.172C>T (p.Arg58Ter)	LRTOMT, TOMT (R58* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GConflicting classifications of pathogenicity
Select item 1339595	NM_001145308.5(LRTOMT):c.173G>A (p.Arg58Gln)	TOMT, LRTOMT (R25Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433534	NM_001145308.5(LRTOMT):c.179T>C (p.Leu60Pro)	LRTOMT, TOMT (L27P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance

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