ClinVar for Gene (Select 152992) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 156

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
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 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 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 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 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 3183070	NM_152544.3(TRMT44):c.2245C>T (p.Arg749Trp)	TRMT44 (R508W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183069	NM_152544.3(TRMT44):c.2219A>T (p.His740Leu)	TRMT44 (H740L +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 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 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 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 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 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 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 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 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 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 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 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685958	GRCh37/hg19 4p16.1(chr4:7810354-8620214)x3	ABLIM2, ACOX3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2685105	GRCh37/hg19 4p16.1(chr4:8463438-8536360)x1	TRMT44	Copy number loss	not provided	GUncertain significance
Select item 2685104	GRCh37/hg19 4p16.1(chr4:8453874-8609785)x1	CPZ, GPR78 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685103	GRCh37/hg19 4p16.1(chr4:8379061-8620214)x1	ACOX3, CPZ +2 more	Copy number loss	not provided	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 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 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 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 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 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 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 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 2599795	NM_152544.3(TRMT44):c.2219A>G (p.His740Arg)	TRMT44 (H740R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589064	NM_152544.3(TRMT44):c.2210C>T (p.Pro737Leu)	TRMT44 (P737L +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 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	MRFAP1L1, MSANTD1 +132 more	Copy number loss	not provided	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 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2382466	NM_152544.3(TRMT44):c.2204G>A (p.Cys735Tyr)	TRMT44 (C494Y +1 more)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1808808	GRCh37/hg19 4p16.1(chr4:8234755-8731855)x3	ACOX3, CPZ +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1340441	GRCh37/hg19 4p16.1(chr4:8367623-8609785)x3	ACOX3, CPZ +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340391	GRCh37/hg19 4p16.1(chr4:8265830-8731855)x3	ACOX3, CPZ +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340188	GRCh37/hg19 4p16.1(chr4:7792998-8731855)x3	ABLIM2, ACOX3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814529	GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1	ABLIM2, ACOX3 +65 more	Copy number loss	not provided	GLikely pathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2