ClinVar for MedGen (Select 409872) - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 1804950	NM_001145308.5(LRTOMT):c.199C>T (p.Arg67Ter)	LRTOMT, TOMT (R34* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 1705515	NM_001145308.5(LRTOMT):c.566del (p.Ile189fs)	ANAPC15, LRTOMT +1 more (I149fs +2 more)	Deletion (frameshift variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely pathogenic
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 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 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 1298368	NM_001145308.5(LRTOMT):c.499C>T (p.Arg167Cys)	ANAPC15, LRTOMT +1 more (R127C +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 883772	NM_001145308.5(LRTOMT):c.*1225T>A	ANAPC15, LRTOMT (M86L +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 883719	NM_001145308.5(LRTOMT):c.754C>T (p.Arg252Cys)	LRTOMT, ANAPC15 +1 more (R212C +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 883718	NM_001145308.5(LRTOMT):c.650G>A (p.Arg217Gln)	TOMT, ANAPC15 +1 more (R217Q +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	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 883667	NM_001145308.4(LRTOMT):c.-453A>G	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882977	NM_001145308.5(LRTOMT):c.*860G>A	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882976	NM_001145308.5(LRTOMT):c.*851G>A	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882975	NM_001145308.5(LRTOMT):c.*638C>T	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882974	NM_001145308.5(LRTOMT):c.*580C>T	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882923	NM_001145308.5(LRTOMT):c.460C>G (p.Pro154Ala)	ANAPC15, LRTOMT +1 more (P114A +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882922	NM_001145308.5(LRTOMT):c.373C>T (p.Arg125Trp)	ANAPC15, LRTOMT +1 more (R125W +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	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 881824	NM_001145308.5(LRTOMT):c.*400C>A	LRTOMT, TOMT +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881770	NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 63	GConflicting classifications of pathogenicity
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 881722	NM_001145308.4(LRTOMT):c.-761C>T	LRTOMT, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
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 881435	NM_001145308.5(LRTOMT):c.*1608G>C	LRTOMT, ANAPC15	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881434	NM_001145308.5(LRTOMT):c.*1544A>G	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881433	NM_001145308.5(LRTOMT):c.*1488T>G	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GUncertain significance
Select item 881379	NM_001145308.5(LRTOMT):c.*244C>A	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881378	NM_001145308.5(LRTOMT):c.*205C>T	TOMT, ANAPC15 +1 more	Single nucleotide variant (3 prime UTR variant +1 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 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 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 627450	NM_001145308.5(LRTOMT):c.384_385insCTCG (p.Glu129fs)	ANAPC15, LRTOMT +1 more (E129fs +2 more)	Insertion (frameshift variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely pathogenic
Select item 587638	NM_001145308.5(LRTOMT):c.538G>A (p.Gly180Ser)	ANAPC15, LRTOMT +1 more (G180S +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 430723	Multiple alleles			Autosomal recessive nonsyndromic hearing loss 63	GLikely pathogenic
Select item 306021	NM_001145308.5(LRTOMT):c.*1810A>T	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306020	NM_001145308.5(LRTOMT):c.*1788C>G	LRTOMT, ANAPC15	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306019	NM_001145308.5(LRTOMT):c.*1773C>T	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306016	NM_001145308.5(LRTOMT):c.*1363C>A	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306014	NM_014042.3(ANAPC15):c.296C>T (p.Pro99Leu)	ANAPC15, LRTOMT (P99L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 306013	NM_001145308.5(LRTOMT):c.*1160T>C	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306012	NM_001145308.5(LRTOMT):c.*1116G>A	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306011	NM_001145308.5(LRTOMT):c.*877T>C	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely benign
Select item 306010	NM_001145308.5(LRTOMT):c.*622C>T	TOMT, ANAPC15 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306009	NM_001145308.5(LRTOMT):c.*601A>C	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306008	NM_001145308.5(LRTOMT):c.*437T>C	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306006	NM_001145308.5(LRTOMT):c.*336C>T	ANAPC15, LRTOMT +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306003	NM_001145308.5(LRTOMT):c.872G>A (p.Gly291Asp)	ANAPC15, LRTOMT +1 more (G291D +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306002	NM_001145308.5(LRTOMT):c.860A>G (p.Tyr287Cys)	LRTOMT, TOMT +1 more (Y287C +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306001	NM_001145308.5(LRTOMT):c.797G>A (p.Arg266His)	ANAPC15, LRTOMT +1 more (R266H +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306000	NM_001145308.5(LRTOMT):c.784C>T (p.Arg262Cys)	ANAPC15, LRTOMT +1 more (R262C +3 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305999	NM_001145308.5(LRTOMT):c.780T>G (p.Cys260Trp)	ANAPC15, LRTOMT +1 more (C260W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
Select item 305998	NM_001145308.5(LRTOMT):c.649C>T (p.Arg217Trp)	ANAPC15, LRTOMT +1 more (R217W +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 305997	NM_001145308.5(LRTOMT):c.592C>T (p.Pro198Ser)	LRTOMT, TOMT +1 more (P198S +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305996	NM_001145308.5(LRTOMT):c.585C>T (p.Asp195=)	LRTOMT, TOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GConflicting classifications of pathogenicity
Select item 305995	NM_001145308.5(LRTOMT):c.568G>A (p.Val190Met)	ANAPC15, LRTOMT +1 more (V190M +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305994	NM_001145308.5(LRTOMT):c.503C>T (p.Thr168Met)	ANAPC15, LRTOMT +1 more (T168M +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GConflicting classifications of pathogenicity
Select item 305993	NM_001145308.5(LRTOMT):c.459G>A (p.Leu153=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305992	NM_001145308.5(LRTOMT):c.276C>T (p.Pro92=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305991	NM_001145308.5(LRTOMT):c.209G>A (p.Arg70Gln)	LRTOMT, TOMT (R70Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 305990	NM_001145308.5(LRTOMT):c.189G>A (p.Thr63=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GUncertain significance
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 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 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 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 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 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 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 305980	NM_001145308.4(LRTOMT):c.-379T>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 305978	NM_001145308.4(LRTOMT):c.-481G>T	LRTOMT	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305976	NM_001145308.4(LRTOMT):c.-554G>A	LRTOMT	Single nucleotide variant	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 305973	NM_001145308.4(LRTOMT):c.-743G>A	NUMA1, LRTOMT	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely benign
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 305971	NM_001145308.4(LRTOMT):c.-816C>T	LRTOMT, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 228842	NM_001145308.5(LRTOMT):c.802C>T (p.His268Tyr)	LRTOMT, TOMT +1 more (H268Y +3 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GUncertain significance
Select item 228840	NM_001145308.5(LRTOMT):c.196C>G (p.Leu66Val)	LRTOMT, TOMT (L66V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GUncertain significance
Select item 227535	NM_001145308.5(LRTOMT):c.397G>C (p.Ala133Pro)	ANAPC15, LRTOMT +1 more (A133P +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GConflicting classifications of pathogenicity
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 208717	NM_001145308.5(LRTOMT):c.614_617dup (p.Ser207fs)	TOMT, ANAPC15 +1 more (S167fs +2 more)	Duplication (frameshift variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GPathogenic
Select item 179792	NM_001145308.5(LRTOMT):c.358+4A>C	TOMT, LRTOMT	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 44040	NM_001145308.5(LRTOMT):c.623G>A (p.Arg208Gln)	ANAPC15, LRTOMT +1 more (R208Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified +2 more	GBenign
Select item 44039	NM_001145308.5(LRTOMT):c.352G>A (p.Val118Ile)	LRTOMT, TOMT (V118I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GConflicting classifications of pathogenicity
Select item 44038	NM_001145308.5(LRTOMT):c.222A>G (p.Ser74=)	TOMT, LRTOMT	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GConflicting classifications of pathogenicity
Select item 546	NM_001145308.5(LRTOMT):c.333C>G (p.Tyr111Ter)	LRTOMT, TOMT (Y71* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 545	NM_001145308.5(LRTOMT):c.328G>A (p.Glu110Lys)	LRTOMT, TOMT (E110K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 544	NM_001145308.5(LRTOMT):c.313T>C (p.Trp105Arg)	LRTOMT, TOMT (W105R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 543	NM_001145308.5(LRTOMT):c.242G>A (p.Arg81Gln)	LRTOMT, TOMT (R81Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GPathogenic

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Items: 90