FTSJ3[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 150795	GRCh38/hg38 17q23.3(chr17:63648253-63855879)x3	CCDC47, DDX42 +31 more	Copy number gain	See cases	GUncertain significance
Select item 2406549	NM_017647.4(FTSJ3):c.2534A>C (p.Lys845Thr)	FTSJ3 (K845T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464930	NM_017647.4(FTSJ3):c.2510G>A (p.Arg837His)	FTSJ3, LOC126862614 (R837H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280151	NM_017647.4(FTSJ3):c.2495A>G (p.Gln832Arg)	FTSJ3, LOC126862614 (Q832R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097406	NM_017647.4(FTSJ3):c.2456G>A (p.Gly819Asp)	FTSJ3, LOC126862614 (G819D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097405	NM_017647.4(FTSJ3):c.2435G>A (p.Arg812His)	FTSJ3, LOC126862614 (R812H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330538	NM_017647.4(FTSJ3):c.2434C>T (p.Arg812Cys)	FTSJ3, LOC126862614 (R812C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097404	NM_017647.4(FTSJ3):c.2425C>T (p.Arg809Cys)	FTSJ3, LOC126862614 (R809C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530001	NM_017647.4(FTSJ3):c.2417G>A (p.Gly806Asp)	FTSJ3, LOC126862614 (G806D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531442	NM_017647.4(FTSJ3):c.2408C>T (p.Ala803Val)	FTSJ3, LOC126862614 (A803V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296857	NM_017647.4(FTSJ3):c.2363A>C (p.Lys788Thr)	FTSJ3, LOC126862614 (K788T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296856	NM_017647.4(FTSJ3):c.2362A>G (p.Lys788Glu)	FTSJ3, LOC126862614 (K788E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342618	NM_017647.4(FTSJ3):c.2331G>T (p.Glu777Asp)	FTSJ3, LOC126862614 (E777D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264055	NM_017647.4(FTSJ3):c.2327G>A (p.Arg776Gln)	FTSJ3, LOC126862614 (R776Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280148	NM_017647.4(FTSJ3):c.2299G>A (p.Val767Met)	FTSJ3, LOC126862614 (V767M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097402	NM_017647.4(FTSJ3):c.2210G>A (p.Arg737His)	FTSJ3, LOC126862614 (R737H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396396	NM_017647.4(FTSJ3):c.2194C>T (p.Arg732Trp)	FTSJ3, LOC126862614 (R732W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280145	NM_017647.4(FTSJ3):c.2144G>A (p.Arg715Gln)	FTSJ3, LOC126862614 (R715Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280141	NM_017647.4(FTSJ3):c.2138G>A (p.Arg713Gln)	FTSJ3, LOC126862614 (R713Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614610	NM_017647.4(FTSJ3):c.2096G>A (p.Gly699Glu)	FTSJ3, LOC126862614 (G699E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256645	NM_017647.4(FTSJ3):c.2093A>G (p.Glu698Gly)	FTSJ3, LOC126862614 (E698G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570155	NM_017647.4(FTSJ3):c.1999G>A (p.Gly667Ser)	FTSJ3, LOC126862614 (G667S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321489	NM_017647.4(FTSJ3):c.1988T>G (p.Leu663Arg)	FTSJ3, LOC126862614 (L663R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465754	NM_017647.4(FTSJ3):c.1982G>A (p.Arg661Gln)	FTSJ3, LOC126862614 (R661Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097401	NM_017647.4(FTSJ3):c.1973C>T (p.Ala658Val)	FTSJ3, LOC126862614 (A658V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097400	NM_017647.4(FTSJ3):c.1960A>G (p.Ile654Val)	FTSJ3 (I654V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328455	NM_017647.4(FTSJ3):c.1921G>C (p.Gly641Arg)	FTSJ3 (G641R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097399	NM_017647.4(FTSJ3):c.1919G>A (p.Arg640His)	FTSJ3 (R640H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369811	NM_017647.4(FTSJ3):c.1918C>T (p.Arg640Cys)	FTSJ3 (R640C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280150	NM_017647.4(FTSJ3):c.1836G>C (p.Lys612Asn)	FTSJ3 (K612N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280146	NM_017647.4(FTSJ3):c.1796C>T (p.Ser599Leu)	FTSJ3 (S599L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397367	NM_017647.4(FTSJ3):c.1746A>G (p.Ile582Met)	FTSJ3 (I582M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568559	NM_017647.4(FTSJ3):c.1699A>C (p.Lys567Gln)	FTSJ3 (K567Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469226	NM_017647.4(FTSJ3):c.1676G>A (p.Arg559Gln)	FTSJ3 (R559Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097398	NM_017647.4(FTSJ3):c.1675C>T (p.Arg559Trp)	FTSJ3 (R559W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603261	NM_017647.4(FTSJ3):c.1673G>A (p.Arg558Gln)	FTSJ3 (R558Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280149	NM_017647.4(FTSJ3):c.1641G>C (p.Glu547Asp)	FTSJ3 (E547D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235129	NM_017647.4(FTSJ3):c.1627G>A (p.Asp543Asn)	FTSJ3 (D543N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281510	NM_017647.4(FTSJ3):c.1564C>G (p.Gln522Glu)	FTSJ3 (Q522E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280142	NM_017647.4(FTSJ3):c.1387G>A (p.Asp463Asn)	FTSJ3 (D463N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097396	NM_017647.4(FTSJ3):c.1382A>C (p.Glu461Ala)	FTSJ3 (E461A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097395	NM_017647.4(FTSJ3):c.1364T>C (p.Ile455Thr)	FTSJ3 (I455T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524097	NM_017647.4(FTSJ3):c.1345G>T (p.Asp449Tyr)	FTSJ3 (D449Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276680	NM_017647.4(FTSJ3):c.1336T>C (p.Phe446Leu)	FTSJ3 (F446L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097394	NM_017647.4(FTSJ3):c.1199G>A (p.Arg400His)	FTSJ3 (R400H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310384	NM_017647.4(FTSJ3):c.1168C>G (p.Leu390Val)	FTSJ3 (L390V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251006	NM_017647.4(FTSJ3):c.1165A>C (p.Lys389Gln)	FTSJ3 (K389Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097393	NM_017647.4(FTSJ3):c.1152G>C (p.Lys384Asn)	FTSJ3 (K384N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289917	NM_017647.4(FTSJ3):c.1099C>A (p.Gln367Lys)	FTSJ3 (Q367K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348122	NM_017647.4(FTSJ3):c.1066T>C (p.Ser356Pro)	FTSJ3 (S356P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280144	NM_017647.4(FTSJ3):c.1035G>C (p.Glu345Asp)	FTSJ3 (E345D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097415	NM_017647.4(FTSJ3):c.920C>T (p.Ser307Leu)	FTSJ3 (S307L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097414	NM_017647.4(FTSJ3):c.737T>G (p.Leu246Arg)	FTSJ3 (L246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279496	NM_017647.4(FTSJ3):c.679G>A (p.Val227Ile)	FTSJ3 (V227I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097413	NM_017647.4(FTSJ3):c.675G>C (p.Lys225Asn)	FTSJ3 (K225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559170	NM_017647.4(FTSJ3):c.653A>T (p.Lys218Met)	FTSJ3 (K218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300958	NM_017647.4(FTSJ3):c.598T>A (p.Phe200Ile)	FTSJ3 (F200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097412	NM_017647.4(FTSJ3):c.529C>T (p.Arg177Cys)	FTSJ3 (R177C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097411	NM_017647.4(FTSJ3):c.527G>A (p.Arg176His)	FTSJ3 (R176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280143	NM_017647.4(FTSJ3):c.526C>T (p.Arg176Cys)	FTSJ3 (R176C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460689	NM_017647.4(FTSJ3):c.466A>C (p.Thr156Pro)	FTSJ3 (T156P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097410	NM_017647.4(FTSJ3):c.448C>T (p.Arg150Cys)	FTSJ3 (R150C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531715	NM_017647.4(FTSJ3):c.445G>A (p.Ala149Thr)	FTSJ3 (A149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486541	NM_017647.4(FTSJ3):c.434G>T (p.Cys145Phe)	FTSJ3 (C145F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097409	NM_017647.4(FTSJ3):c.425G>A (p.Arg142His)	FTSJ3 (R142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317807	NM_017647.4(FTSJ3):c.359C>T (p.Pro120Leu)	FTSJ3 (P120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318317	NM_017647.4(FTSJ3):c.321G>T (p.Lys107Asn)	FTSJ3 (K107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097408	NM_017647.4(FTSJ3):c.320A>G (p.Lys107Arg)	FTSJ3 (K107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097407	NM_017647.4(FTSJ3):c.313G>C (p.Glu105Gln)	FTSJ3 (E105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327365	NM_017647.4(FTSJ3):c.254A>G (p.Asn85Ser)	FTSJ3 (N85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097403	NM_017647.4(FTSJ3):c.238A>G (p.Ile80Val)	FTSJ3 (I80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280164	NM_017647.4(FTSJ3):c.174G>T (p.Trp58Cys)	FTSJ3 (W58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401376	NM_017647.4(FTSJ3):c.139G>T (p.Ala47Ser)	FTSJ3 (A47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 1808405	GRCh37/hg19 17q23.3(chr17:61838634-62465444)x4	CCDC47, CD79B +16 more	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic

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Items: 84