TRMT61B[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 155287	GRCh38/hg38 2p23.2(chr2:28557445-29437643)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 154217	GRCh38/hg38 2p23.2(chr2:28561270-29446956)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 149082	GRCh38/hg38 2p23.2(chr2:28574111-29442195)x3	ALK, CLIP4 +35 more	Copy number gain	See cases	GUncertain significance
Select item 152846	GRCh38/hg38 2p23.2(chr2:28689225-28954146)x3	LOC100505774, LOC129388837 +14 more	Copy number gain	See cases	GUncertain significance
Select item 2250248	NM_182756.4(SPDYA):c.862C>T (p.His288Tyr)	SPDYA, TRMT61B (H288Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183092	NM_017910.4(TRMT61B):c.1403A>C (p.Lys468Thr)	SPDYA, TRMT61B (K468T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2480747	NM_017910.4(TRMT61B):c.1400T>C (p.Val467Ala)	SPDYA, TRMT61B (V467A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3183091	NM_017910.4(TRMT61B):c.1381G>C (p.Gly461Arg)	SPDYA, TRMT61B (G461R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2403423	NM_017910.4(TRMT61B):c.1362A>C (p.Arg454Ser)	SPDYA, TRMT61B (R454S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2204840	NM_017910.4(TRMT61B):c.1165A>G (p.Ile389Val)	TRMT61B (I389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345762	NM_017910.4(TRMT61B):c.1129G>A (p.Glu377Lys)	TRMT61B (E377K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355393	NM_017910.4(TRMT61B):c.1120C>T (p.Arg374Cys)	TRMT61B (R374C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183088	NM_017910.4(TRMT61B):c.1106T>C (p.Leu369Pro)	TRMT61B (L369P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268088	NM_017910.4(TRMT61B):c.1072G>A (p.Val358Ile)	TRMT61B (V358I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401647	NM_017910.4(TRMT61B):c.1048C>G (p.Leu350Val)	TRMT61B (L350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592635	NM_017910.4(TRMT61B):c.1009T>A (p.Leu337Ile)	TRMT61B (L337I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343366	NM_017910.4(TRMT61B):c.967G>C (p.Asp323His)	TRMT61B (D323H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183101	NM_017910.4(TRMT61B):c.964G>A (p.Glu322Lys)	TRMT61B (E322K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260267	NM_017910.4(TRMT61B):c.962C>T (p.Thr321Ile)	TRMT61B (T321I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329115	NM_017910.4(TRMT61B):c.955G>A (p.Gly319Arg)	TRMT61B (G319R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237064	NM_017910.4(TRMT61B):c.903T>A (p.Ser301Arg)	TRMT61B (S301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183099	NM_017910.4(TRMT61B):c.871T>G (p.Tyr291Asp)	TRMT61B (Y291D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378298	NM_017910.4(TRMT61B):c.818G>A (p.Arg273Gln)	TRMT61B (R273Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352430	NM_017910.4(TRMT61B):c.770C>T (p.Ser257Phe)	TRMT61B (S257F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472790	NM_017910.4(TRMT61B):c.740G>A (p.Gly247Asp)	TRMT61B (G247D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408698	NM_017910.4(TRMT61B):c.721A>G (p.Met241Val)	TRMT61B (M241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183098	NM_017910.4(TRMT61B):c.712A>G (p.Ile238Val)	TRMT61B (I238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407143	NM_017910.4(TRMT61B):c.710T>C (p.Met237Thr)	TRMT61B (M237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370056	NM_017910.4(TRMT61B):c.697A>G (p.Lys233Glu)	TRMT61B (K233E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183097	NM_017910.4(TRMT61B):c.676G>A (p.Gly226Arg)	TRMT61B (G226R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335282	NM_017910.4(TRMT61B):c.616G>C (p.Gly206Arg)	TRMT61B (G206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332841	NM_017910.4(TRMT61B):c.529T>C (p.Phe177Leu)	TRMT61B (F177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267306	NM_017910.4(TRMT61B):c.484G>A (p.Gly162Arg)	TRMT61B (G162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183096	NM_017910.4(TRMT61B):c.482C>A (p.Thr161Asn)	TRMT61B (T161N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183095	NM_017910.4(TRMT61B):c.480G>T (p.Glu160Asp)	TRMT61B (E160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183094	NM_017910.4(TRMT61B):c.422C>T (p.Pro141Leu)	TRMT61B (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619828	NM_017910.4(TRMT61B):c.355T>G (p.Ser119Ala)	TRMT61B (S119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215583	NM_017910.4(TRMT61B):c.337G>A (p.Gly113Ser)	TRMT61B (G113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481401	NM_017910.4(TRMT61B):c.296C>T (p.Pro99Leu)	TRMT61B (P99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329114	NM_017910.4(TRMT61B):c.256G>A (p.Glu86Lys)	TRMT61B (E86K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528199	NM_017910.4(TRMT61B):c.205T>G (p.Ser69Ala)	TRMT61B (S69A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603833	NM_017910.4(TRMT61B):c.174A>C (p.Gln58His)	TRMT61B (Q58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270120	NM_017910.4(TRMT61B):c.148G>A (p.Gly50Arg)	TRMT61B (G50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183090	NM_017910.4(TRMT61B):c.133A>G (p.Arg45Gly)	TRMT61B (R45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183089	NM_017910.4(TRMT61B):c.112C>G (p.Leu38Val)	TRMT61B (L38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183100	NM_017910.4(TRMT61B):c.91C>T (p.Pro31Ser)	TRMT61B (P31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306260	NM_017910.4(TRMT61B):c.88G>A (p.Glu30Lys)	TRMT61B (E30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183093	NM_017910.4(TRMT61B):c.38G>T (p.Cys13Phe)	TRMT61B (C13F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599357	NM_017910.4(TRMT61B):c.38G>A (p.Cys13Tyr)	TRMT61B (C13Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534922	NM_017910.4(TRMT61B):c.29T>C (p.Val10Ala)	TRMT61B (V10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230629	NM_017910.4(TRMT61B):c.10G>C (p.Ala4Pro)	TRMT61B (A4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062642	GRCh37/hg19 2p23.2-23.1(chr2:28244046-30256324)x3	ALK, BABAM2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 814226	GRCh37/hg19 2p23.2(chr2:28387514-29616031)x3	CLIP4, FOSL2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 687567	GRCh37/hg19 2p23.2(chr2:29030646-29289738)x3	PCARE, SPDYA +3 more	Copy number gain	not provided	GUncertain significance
Select item 686185	GRCh37/hg19 2p23.2(chr2:28980521-29300911)x3	PCARE, PPP1CB +4 more	Copy number gain	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442481	GRCh37/hg19 2p23.2-23.1(chr2:28306106-30052309)x3	ALK, BABAM2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic

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Items: 71