TRMT44[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 148843	GRCh38/hg38 4p16.1(chr4:8414872-10011846)x3	ACOX3, CPZ +54 more	Copy number gain	See cases	GLikely benign
Select item 3183073	NM_152544.3(TRMT44):c.4G>C (p.Ala2Pro)	TRMT44 (A2P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2366252	NM_152544.3(TRMT44):c.41C>A (p.Ala14Glu)	TRMT44 (A14E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2381144	NM_152544.3(TRMT44):c.116G>C (p.Cys39Ser)	TRMT44 (C39S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2390858	NM_152544.3(TRMT44):c.144C>G (p.Ser48Arg)	TRMT44 (S48R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3183066	NM_152544.3(TRMT44):c.194C>T (p.Ser65Leu)	TRMT44 (S65L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2495636	NM_152544.3(TRMT44):c.209G>A (p.Arg70Gln)	TRMT44 (R70Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2623632	NM_152544.3(TRMT44):c.221C>T (p.Pro74Leu)	TRMT44 (P74L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2253265	NM_152544.3(TRMT44):c.241G>C (p.Gly81Arg)	TRMT44 (G81R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2354428	NM_152544.3(TRMT44):c.258G>C (p.Arg86Ser)	TRMT44 (R86S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3183071	NM_152544.3(TRMT44):c.286G>T (p.Ala96Ser)	TRMT44 (A96S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2549290	NM_152544.3(TRMT44):c.299T>C (p.Leu100Pro)	TRMT44 (L100P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3329097	NM_152544.3(TRMT44):c.359C>T (p.Pro120Leu)	TRMT44 (P120L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2608861	NM_152544.3(TRMT44):c.395G>T (p.Gly132Val)	TRMT44 (G132V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3183072	NM_152544.3(TRMT44):c.412C>A (p.Pro138Thr)	TRMT44 (P138T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2411988	NM_152544.3(TRMT44):c.467G>C (p.Gly156Ala)	TRMT44 (G156A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2352820	NM_152544.3(TRMT44):c.485C>A (p.Ala162Asp)	TRMT44 (A162D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2539348	NM_152544.3(TRMT44):c.541G>A (p.Val181Met)	TRMT44 (V181M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2276293	NM_152544.3(TRMT44):c.589A>G (p.Thr197Ala)	TRMT44 (T197A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2473601	NM_152544.3(TRMT44):c.608T>C (p.Ile203Thr)	TRMT44 (I203T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3329094	NM_152544.3(TRMT44):c.629A>G (p.Asn210Ser)	TRMT44 (N210S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2538935	NM_152544.3(TRMT44):c.691A>T (p.Ser231Cys)	TRMT44 (S231C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2353896	NM_152544.3(TRMT44):c.715A>G (p.Ser239Gly)	TRMT44 (S239G)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3183075	NM_152544.3(TRMT44):c.739A>G (p.Ile247Val)	TRMT44 (I247V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489604	NM_152544.3(TRMT44):c.787G>A (p.Val263Met)	TRMT44 (V22M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603358	NM_152544.3(TRMT44):c.871A>G (p.Lys291Glu)	TRMT44 (K291E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411682	NM_152544.3(TRMT44):c.875G>T (p.Ser292Ile)	TRMT44 (S292I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474980	NM_152544.3(TRMT44):c.880C>G (p.Leu294Val)	TRMT44 (L53V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605627	NM_152544.3(TRMT44):c.913G>A (p.Ala305Thr)	TRMT44 (A305T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467985	NM_152544.3(TRMT44):c.955G>A (p.Val319Met)	TRMT44 (V78M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183076	NM_152544.3(TRMT44):c.984G>T (p.Lys328Asn)	TRMT44 (K87N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329098	NM_152544.3(TRMT44):c.1129G>T (p.Gly377Trp)	TRMT44 (G377W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183058	NM_152544.3(TRMT44):c.1130G>A (p.Gly377Glu)	TRMT44 (G136E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215932	NM_152544.3(TRMT44):c.1151A>G (p.Asp384Gly)	TRMT44 (D384G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183059	NM_152544.3(TRMT44):c.1196A>G (p.Gln399Arg)	TRMT44 (Q399R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266316	NM_152544.3(TRMT44):c.1208A>G (p.Asp403Gly)	TRMT44 (D403G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400707	NM_152544.3(TRMT44):c.1228A>G (p.Lys410Glu)	TRMT44 (K410E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601771	NM_152544.3(TRMT44):c.1327C>A (p.Arg443Ser)	TRMT44 (R202S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207064	NM_152544.3(TRMT44):c.1378C>T (p.Arg460Trp)	TRMT44 (R219W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402374	NM_152544.3(TRMT44):c.1387A>C (p.Ser463Arg)	TRMT44 (S222R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311867	NM_152544.3(TRMT44):c.1400A>G (p.Gln467Arg)	TRMT44 (Q226R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553966	NM_152544.3(TRMT44):c.1456G>A (p.Val486Met)	TRMT44 (V486M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588027	NM_152544.3(TRMT44):c.1460A>C (p.Asp487Ala)	TRMT44 (D487A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3183060	NM_152544.3(TRMT44):c.1475G>A (p.Arg492Lys)	TRMT44 (R251K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183061	NM_152544.3(TRMT44):c.1520C>T (p.Thr507Ile)	TRMT44 (T507I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349623	NM_152544.3(TRMT44):c.1583G>A (p.Arg528Gln)	TRMT44 (R287Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2530010	NM_152544.3(TRMT44):c.1591C>T (p.Pro531Ser)	TRMT44 (P290S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329091	NM_152544.3(TRMT44):c.1594G>C (p.Val532Leu)	TRMT44 (V291L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183062	NM_152544.3(TRMT44):c.1694G>A (p.Gly565Glu)	TRMT44 (G565E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329092	NM_152544.3(TRMT44):c.1745A>G (p.Glu582Gly)	TRMT44 (E582G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336662	NM_152544.3(TRMT44):c.1755G>T (p.Trp585Cys)	TRMT44 (W344C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183063	NM_152544.3(TRMT44):c.1771C>T (p.Pro591Ser)	TRMT44 (P350S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612927	NM_152544.3(TRMT44):c.1778A>G (p.Glu593Gly)	TRMT44 (E352G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561099	NM_152544.3(TRMT44):c.1790G>A (p.Arg597His)	TRMT44 (R597H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618728	NM_152544.3(TRMT44):c.1823T>A (p.Phe608Tyr)	TRMT44 (F367Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183064	NM_152544.3(TRMT44):c.1883C>A (p.Thr628Lys)	TRMT44 (T387K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183065	NM_152544.3(TRMT44):c.1918A>G (p.Asn640Asp)	TRMT44 (N399D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 31159	NM_152544.3(TRMT44):c.1922G>C (p.Gly641Ala)	TRMT44 (G641A)	Single nucleotide variant (missense variant)	Variant of unknown significance	GUncertain significance
Select item 2411391	NM_152544.3(TRMT44):c.1933C>G (p.Leu645Val)	TRMT44 (L404V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261040	NM_152544.3(TRMT44):c.1963G>T (p.Asp655Tyr)	TRMT44 (D655Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286041	NM_152544.3(TRMT44):c.1967C>T (p.Thr656Met)	TRMT44 (T415M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227500	NM_152544.3(TRMT44):c.1984C>G (p.Leu662Val)	TRMT44 (L662V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325310	NM_152544.3(TRMT44):c.1996T>C (p.Cys666Arg)	TRMT44 (C425R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392930	NM_152544.3(TRMT44):c.2020C>T (p.Arg674Trp)	TRMT44 (R433W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546328	NM_152544.3(TRMT44):c.2078G>A (p.Arg693Gln)	TRMT44 (R693Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538081	NM_152544.3(TRMT44):c.2086A>G (p.Thr696Ala)	TRMT44 (T696A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601359	NM_152544.3(TRMT44):c.2104C>G (p.Gln702Glu)	TRMT44 (Q461E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485065	NM_152544.3(TRMT44):c.2156G>T (p.Cys719Phe)	TRMT44 (C478F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183067	NM_152544.3(TRMT44):c.2162T>A (p.Phe721Tyr)	TRMT44 (F721Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183068	NM_152544.3(TRMT44):c.2169G>C (p.Met723Ile)	TRMT44 (M482I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329095	NM_152544.3(TRMT44):c.2195C>T (p.Ser732Phe)	TRMT44 (S491F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382466	NM_152544.3(TRMT44):c.2204G>A (p.Cys735Tyr)	TRMT44 (C494Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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