ClinVar for Gene (Select 55687) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380729	NM_018006.5(TRMU):c.823G>C (p.Glu275Gln)	TRMU (E135Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369128	NM_018006.5(TRMU):c.77G>A (p.Arg26Gln)	TRMU (R26Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3366347	NM_018006.5(TRMU):c.383A>G (p.Tyr128Cys)	TRMU (M8V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3364751	NM_018006.5(TRMU):c.448C>A (p.Leu150Ile)	TRMU (L150I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3359401	NM_018006.5(TRMU):c.1223G>T (p.Ser408Ile)	TRMU (S268I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3355810	NM_018006.5(TRMU):c.656T>C (p.Met219Thr)	TRMU (M105T +2 more)	Single nucleotide variant (missense variant +1 more)	TRMU-related disorder	GUncertain significance
Select item 3353610	NM_018006.5(TRMU):c.571C>T (p.Pro191Ser)	TRMU (P191S +2 more)	Single nucleotide variant (missense variant +1 more)	TRMU-related disorder	GUncertain significance
Select item 3353320	NM_018006.5(TRMU):c.20T>C (p.Val7Ala)	TRMU (V7A)	Single nucleotide variant (5 prime UTR variant +2 more)	TRMU-related disorder	GUncertain significance
Select item 3348316	NM_018006.5(TRMU):c.248+10G>A	TRMU	Single nucleotide variant (intron variant)	TRMU-related disorder	GLikely benign
Select item 3345686	NM_018006.5(TRMU):c.980T>C (p.Met327Thr)	TRMU (M187T +2 more)	Single nucleotide variant (missense variant +1 more)	TRMU-related disorder	GUncertain significance
Select item 3345542	NM_018006.5(TRMU):c.773-2A>G	TRMU	Single nucleotide variant (splice acceptor variant)	TRMU-related disorder	GLikely pathogenic
Select item 3340211	NM_018006.5(TRMU):c.49A>G (p.Ser17Gly)	TRMU (S17G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3338850	NM_018006.5(TRMU):c.697C>T (p.Leu233Phe)	TRMU (L119F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 3336968	NM_018006.5(TRMU):c.287A>G (p.Asn96Ser)	TRMU (N96S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 3329124	NM_018006.5(TRMU):c.787A>G (p.Thr263Ala)	TRMU (T123A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329123	NM_018006.5(TRMU):c.1093A>G (p.Thr365Ala)	TRMU (T225A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3329122	NM_018006.5(TRMU):c.413T>C (p.Val138Ala)	TRMU (S18P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3248129	NC_000022.10:g.(?_46739139)_(46752903_?)del	TRMU	Deletion	not provided	GPathogenic
Select item 3248128	NC_000022.10:g.(?_46731662)_(46742461_?)del	TRMU	Deletion	not provided	GPathogenic
Select item 3248127	NC_000022.10:g.(?_46731662)_(46739285_?)del	TRMU	Deletion	not provided	GPathogenic
Select item 3248117	NC_000022.10:g.(?_45958792)_(46971995_?)del	GTSE1, MIRLET7A3 +11 more	Deletion	not provided	GPathogenic
Select item 3240641	NM_018006.5(TRMU):c.1085_1101+7del	TRMU	Deletion (splice donor variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3240640	NM_018006.5(TRMU):c.994del (p.Arg332fs)	TRMU (R192fs +2 more)	Deletion (frameshift variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3240639	NM_018006.5(TRMU):c.645_649del (p.Lys216fs)	TRMU (K102fs +2 more)	Deletion (frameshift variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3240638	NM_018006.5(TRMU):c.479-1G>A	TRMU	Single nucleotide variant (splice acceptor variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3240637	NM_018006.5(TRMU):c.333del (p.His112fs)	TRMU (H112fs)	Deletion (frameshift variant +2 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3240636	NM_018006.5(TRMU):c.31_32del (p.Leu11fs)	TRMU (L11fs)	Deletion (frameshift variant +2 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3240635	NM_018006.5(TRMU):c.679_686del (p.Lys226_Arg227insTer)	TRMU	Deletion (nonsense +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3183148	NM_018006.5(TRMU):c.317A>G (p.Lys106Arg)	TRMU (K106R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3075734	NM_018006.5:c.[2T>A];[835G>A]			Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GPathogenic
Select item 3063688	NM_018006.5(TRMU):c.554T>C (p.Leu185Pro)	TRMU (L185P +2 more)	Single nucleotide variant (stop lost +2 more)	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 3040708	NM_018006.5(TRMU):c.342T>G (p.Ala114=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	TRMU-related disorder	GLikely benign
Select item 3039296	NM_018006.5(TRMU):c.1040A>C (p.Asn347Thr)	TRMU (N207T +2 more)	Single nucleotide variant (missense variant +2 more)	TRMU-related disorder	GUncertain significance
Select item 3031221	NM_018006.5(TRMU):c.-51A>C	TRMU	Single nucleotide variant (5 prime UTR variant +1 more)	TRMU-related disorder	GLikely benign
Select item 3029512	NM_018006.5(TRMU):c.874-4G>T	TRMU	Single nucleotide variant (intron variant)	TRMU-related disorder	GLikely benign
Select item 3022027	NM_018006.5(TRMU):c.355+20A>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021922	NM_018006.5(TRMU):c.874-13T>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020861	NM_018006.5(TRMU):c.83-15C>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017640	NM_018006.5(TRMU):c.1104T>C (p.Phe368=)	TRMU (C201R +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3017434	NM_018006.5(TRMU):c.772+17G>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016145	NM_018006.5(TRMU):c.705+15T>C	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010073	NM_018006.5(TRMU):c.82+18C>G	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008312	NM_018006.5(TRMU):c.876C>G (p.Ala292=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006479	NM_018006.5(TRMU):c.83-17G>C	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004738	NM_018006.5(TRMU):c.960A>G (p.Ala320=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002744	NM_018006.5(TRMU):c.1084G>A (p.Ala362Thr)	TRMU (A248T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 3000752	NM_018006.5(TRMU):c.849C>T (p.Asp283=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999673	NM_018006.5(TRMU):c.356-13A>G	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996998	NM_018006.5(TRMU):c.936G>A (p.Trp312Ter)	TRMU (W172* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2992105	NM_018006.5(TRMU):c.441C>A (p.Pro147=)	TRMU (P27Q)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2989143	NM_018006.5(TRMU):c.1101+12G>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988806	NM_018006.5(TRMU):c.478+11G>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984095	NM_018006.5(TRMU):c.248+13C>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983783	NM_018006.5(TRMU):c.355+18A>G	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982812	NM_018006.5(TRMU):c.285C>T (p.Pro95=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2979104	NM_018006.5(TRMU):c.1102-18A>C	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977703	NM_018006.5(TRMU):c.972C>T (p.Asp324=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974823	NM_018006.5(TRMU):c.873+7G>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971897	NM_018006.5(TRMU):c.83-18T>G	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971661	NM_018006.5(TRMU):c.609C>T (p.Ile203=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2966967	NM_018006.5(TRMU):c.773-12G>C	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959425	NM_018006.5(TRMU):c.438G>A (p.Lys146=)	TRMU (S26N)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2920143	NM_018006.5(TRMU):c.1191G>A (p.Gln397=)	TRMU (A230T +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2917561	NM_018006.5(TRMU):c.478+16C>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915937	NM_018006.5(TRMU):c.355+13G>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914297	NM_018006.5(TRMU):c.772+20A>G	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912148	NM_018006.5(TRMU):c.83-15C>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911759	NM_018006.5(TRMU):c.1101+20dup	TRMU	Duplication (intron variant)	not provided	GLikely benign
Select item 2911573	NM_018006.5(TRMU):c.248+15C>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911124	NM_018006.5(TRMU):c.1019-18C>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911010	NM_018006.5(TRMU):c.1102-14T>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910457	NM_018006.5(TRMU):c.1018+19_1018+21del	TRMU	Deletion (intron variant)	not provided	GLikely benign
Select item 2908966	NM_018006.5(TRMU):c.1102-14T>C	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908449	NM_018006.5(TRMU):c.874-16A>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908371	NM_018006.5(TRMU):c.82+20C>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908239	NM_018006.5(TRMU):c.1018+19C>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908004	NM_018006.5(TRMU):c.82+12G>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906797	NM_018006.5(TRMU):c.772+20dup	TRMU	Duplication (intron variant)	not provided	GLikely benign
Select item 2906392	NM_018006.5(TRMU):c.1018+17C>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897917	NM_018006.5(TRMU):c.1101+17G>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894527	NM_018006.5(TRMU):c.82+15G>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894104	NM_018006.5(TRMU):c.479-15C>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894083	NM_018006.5(TRMU):c.1019-13C>G	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892684	NM_018006.5(TRMU):c.48C>T (p.Asp16=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2890302	NM_018006.5(TRMU):c.651+14G>C	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889159	NM_018006.5(TRMU):c.1102-15del	TRMU	Deletion (intron variant)	not provided	GLikely benign
Select item 2888732	NM_018006.5(TRMU):c.478+18G>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887685	NM_018006.5(TRMU):c.772+19C>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886841	NM_018006.5(TRMU):c.874-11C>G	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886826	NM_018006.5(TRMU):c.249-12C>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884954	NM_018006.5(TRMU):c.355+11T>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884622	NM_018006.5(TRMU):c.706-16C>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884378	NM_018006.5(TRMU):c.1101+14G>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882829	NM_018006.5(TRMU):c.1102-17G>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882554	NM_018006.5(TRMU):c.1019-11C>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881549	NM_018006.5(TRMU):c.874-15C>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign

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