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_001393500.2(TOMT):c.80T>C (p.Leu27Pro)	LRTOMT, TOMT (L27P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1804950	NM_001393500.2(TOMT):c.100C>T (p.Arg34Ter)	TOMT, LRTOMT (R34* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 1705515	NM_001393500.2(TOMT):c.467del (p.Ile156fs)	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_001393500.2(TOMT):c.62G>A (p.Arg21Gln)	LRTOMT, TOMT (R21Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1333659	NM_001393500.2(TOMT):c.55C>T (p.Arg19Trp)	LRTOMT, TOMT (R19W +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 1298368	NM_001393500.2(TOMT):c.400C>T (p.Arg134Cys)	ANAPC15, LRTOMT +1 more (R127C +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GUncertain significance
Select item 883772	NM_014042.3(ANAPC15):c.256A>T (p.Met86Leu)	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_001393500.2(TOMT):c.655C>T (p.Arg219Cys)	ANAPC15, LRTOMT +1 more (R212C +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 883718	NM_001393500.2(TOMT):c.551G>A (p.Arg184Gln)	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_014042.3(ANAPC15):c.*96C>T	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882976	NM_014042.3(ANAPC15):c.*105C>T	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882975	NM_001393500.2(TOMT):c.*638C>T	TOMT, ANAPC15 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882974	NM_001393500.2(TOMT):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_001393500.2(TOMT):c.361C>G (p.Pro121Ala)	LRTOMT, TOMT +1 more (P114A +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 882922	NM_001393500.2(TOMT):c.274C>T (p.Arg92Trp)	ANAPC15, LRTOMT +1 more (R125W +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +1 more	GUncertain significance
Select item 882878	NM_006185.4(NUMA1):c.-149G>C	LRTOMT, NUMA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881824	NM_001393500.2(TOMT):c.*400C>A	ANAPC15, LRTOMT +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_006185.4(NUMA1):c.-127A>C	LRTOMT, NUMA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881722	NM_006185.4(NUMA1):c.-103+12G>A	NUMA1, LRTOMT	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881721	NM_006185.4(NUMA1):c.-103+136G>A	LRTOMT, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881435	NM_014042.3(ANAPC15):c.180+11C>G	LRTOMT, ANAPC15	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881434	NM_014042.3(ANAPC15):c.180+75T>C	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881433	NM_014042.3(ANAPC15):c.180+131A>C	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 881379	NM_001393500.2(TOMT):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_001393500.2(TOMT):c.*205C>T	ANAPC15, LRTOMT +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_001393500.2(TOMT):c.73C>T (p.Arg25Ter)	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_145309.6(LRRC51):c.-140+1G>T	LRTOMT, LRRC51	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 627450	NM_001393500.2(TOMT):c.285_286insCTCG (p.Glu96fs)	ANAPC15, LRTOMT +1 more (E129fs +2 more)	Insertion (frameshift variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely pathogenic
Select item 587638	NM_001393500.2(TOMT):c.439G>A (p.Gly147Ser)	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_014042.3(ANAPC15):c.121-132T>A	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306020	NM_014042.3(ANAPC15):c.121-110G>C	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306019	NM_014042.3(ANAPC15):c.121-95G>A	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306016	NM_014042.3(ANAPC15):c.181-63G>T	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 306013	NM_014042.3(ANAPC15):c.318+3A>G	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306012	NM_014042.3(ANAPC15):c.318+47C>T	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306011	NM_014042.3(ANAPC15):c.*79A>G	ANAPC15, LRTOMT	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely benign
Select item 306010	NM_001393500.2(TOMT):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_001393500.2(TOMT):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_001393500.2(TOMT):c.*437T>C	LRTOMT, TOMT +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 306006	NM_001393500.2(TOMT):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_001393500.2(TOMT):c.773G>A (p.Gly258Asp)	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_001393500.2(TOMT):c.761A>G (p.Tyr254Cys)	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_001393500.2(TOMT):c.698G>A (p.Arg233His)	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_001393500.2(TOMT):c.685C>T (p.Arg229Cys)	TOMT, ANAPC15 +1 more (R262C +3 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305999	NM_001393500.2(TOMT):c.681T>G (p.Cys227Trp)	ANAPC15, LRTOMT +1 more (C260W +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 305998	NM_001393500.2(TOMT):c.550C>T (p.Arg184Trp)	LRTOMT, TOMT +1 more (R217W +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63 +2 more	GUncertain significance
Select item 305997	NM_001393500.2(TOMT):c.493C>T (p.Pro165Ser)	ANAPC15, LRTOMT +1 more (P198S +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305996	NM_001393500.2(TOMT):c.486C>T (p.Asp162=)	ANAPC15, LRTOMT +1 more	Single nucleotide variant (synonymous variant +3 more)	LRTOMT-related condition +2 more	GConflicting classifications of pathogenicity
Select item 305995	NM_001393500.2(TOMT):c.469G>A (p.Val157Met)	TOMT, ANAPC15 +1 more (V190M +2 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305994	NM_001393500.2(TOMT):c.404C>T (p.Thr135Met)	LRTOMT, TOMT +1 more (T168M +2 more)	Single nucleotide variant (missense variant +3 more)	LRTOMT-related condition +2 more	GConflicting classifications of pathogenicity
Select item 305993	NM_001393500.2(TOMT):c.360G>A (p.Leu120=)	TOMT, ANAPC15 +1 more	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305992	NM_001393500.2(TOMT):c.177C>T (p.Pro59=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305991	NM_001393500.2(TOMT):c.110G>A (p.Arg37Gln)	LRTOMT, TOMT (R70Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 305990	NM_001393500.2(TOMT):c.90G>A (p.Thr30=)	LRTOMT, TOMT	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 305988	NM_145309.6(LRRC51):c.347G>A (p.Arg116His)	LRRC51, LRTOMT (R116H +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305987	NM_145309.6(LRRC51):c.281T>C (p.Ile94Thr)	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)	LRTOMT-related condition +3 more	GConflicting classifications of pathogenicity
Select item 305985	NM_145309.6(LRRC51):c.150G>T (p.Leu50=)	LRRC51, LRTOMT	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305983	NM_145309.6(LRRC51):c.99G>A (p.Glu33=)	LRTOMT, LRRC51	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305982	NM_145309.6(LRRC51):c.-140+5G>A	LRTOMT, LRRC51	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305981	NM_145309.6(LRRC51):c.-162G>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_006185.4(NUMA1):c.-147T>C	LRTOMT, NUMA1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305973	NM_006185.4(NUMA1):c.-109C>T	NUMA1, LRTOMT	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GLikely benign
Select item 305972	NM_006185.4(NUMA1):c.-103+13G>T	LRTOMT, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 305971	NM_006185.4(NUMA1):c.-103+67G>A	LRTOMT, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 63	GUncertain significance
Select item 228842	NM_001393500.2(TOMT):c.703C>T (p.His235Tyr)	ANAPC15, LRTOMT +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_001393500.2(TOMT):c.97C>G (p.Leu33Val)	LRTOMT, TOMT (L66V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 227535	NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro)	LRTOMT, TOMT +1 more (A133P +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +3 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)	LRTOMT-related condition +3 more	GConflicting classifications of pathogenicity
Select item 208717	NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs)	ANAPC15, LRTOMT +1 more (S167fs +2 more)	Duplication (frameshift variant +3 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 179792	NM_001393500.2(TOMT):c.259+4A>C	LRTOMT, TOMT	Single nucleotide variant (intron variant)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 44040	NM_001393500.2(TOMT):c.524G>A (p.Arg175Gln)	TOMT, ANAPC15 +1 more (R208Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified +2 more	GBenign
Select item 44039	NM_001393500.2(TOMT):c.253G>A (p.Val85Ile)	LRTOMT, TOMT (V118I +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 44038	NM_001393500.2(TOMT):c.123A>G (p.Ser41=)	TOMT, LRTOMT	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 546	NM_001393500.2(TOMT):c.234C>G (p.Tyr78Ter)	LRTOMT, TOMT (Y71* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 545	NM_001393500.2(TOMT):c.229G>A (p.Glu77Lys)	LRTOMT, TOMT (E110K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 544	NM_001393500.2(TOMT):c.214T>C (p.Trp72Arg)	LRTOMT, TOMT (W105R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 63	GPathogenic
Select item 543	NM_001393500.2(TOMT):c.143G>A (p.Arg48Gln)	LRTOMT, TOMT (R81Q +2 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +1 more	GPathogenic

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Items: 90