ClinVar for Gene (Select 57604) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329121	NM_020844.3(TRMT9B):c.656C>T (p.Pro219Leu)	TRMT9B (P219L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329120	NM_020844.3(TRMT9B):c.59C>T (p.Thr20Ile)	LOC124049166, TRMT9B (T20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329119	NM_020844.3(TRMT9B):c.409C>A (p.Leu137Met)	TRMT9B (L11M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329117	NM_020844.3(TRMT9B):c.1178T>C (p.Met393Thr)	TRMT9B (M267T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329116	NM_020844.3(TRMT9B):c.785G>A (p.Arg262Lys)	TRMT9B (R136K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183146	NM_020844.3(TRMT9B):c.995A>G (p.His332Arg)	TRMT9B (H332R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183145	NM_020844.3(TRMT9B):c.976G>A (p.Ala326Thr)	TRMT9B (A200T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183144	NM_020844.3(TRMT9B):c.960C>G (p.His320Gln)	TRMT9B (H320Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183143	NM_020844.3(TRMT9B):c.953G>A (p.Gly318Glu)	TRMT9B (G192E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183142	NM_020844.3(TRMT9B):c.92C>A (p.Ala31Asp)	LOC124049166, TRMT9B (A31D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183141	NM_020844.3(TRMT9B):c.857C>A (p.Pro286His)	TRMT9B (P160H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183140	NM_020844.3(TRMT9B):c.802G>C (p.Val268Leu)	TRMT9B (V268L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183139	NM_020844.3(TRMT9B):c.755T>C (p.Phe252Ser)	TRMT9B (F252S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183138	NM_020844.3(TRMT9B):c.655C>G (p.Pro219Ala)	TRMT9B (P93A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183137	NM_020844.3(TRMT9B):c.643G>T (p.Val215Leu)	TRMT9B (V89L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183136	NM_020844.3(TRMT9B):c.640A>G (p.Ser214Gly)	TRMT9B (S214G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183135	NM_020844.3(TRMT9B):c.610A>C (p.Lys204Gln)	TRMT9B (K204Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183134	NM_020844.3(TRMT9B):c.588G>C (p.Glu196Asp)	TRMT9B (E70D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183133	NM_020844.3(TRMT9B):c.539A>T (p.Gln180Leu)	TRMT9B (Q180L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183132	NM_020844.3(TRMT9B):c.533A>T (p.Lys178Met)	TRMT9B (K52M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183131	NM_020844.3(TRMT9B):c.52G>C (p.Glu18Gln)	LOC124049166, TRMT9B (E18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183130	NM_020844.3(TRMT9B):c.514T>A (p.Ser172Thr)	TRMT9B (S172T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183129	NM_020844.3(TRMT9B):c.497C>A (p.Ser166Tyr)	TRMT9B (S40Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183128	NM_020844.3(TRMT9B):c.472G>A (p.Val158Ile)	TRMT9B (V158I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183127	NM_020844.3(TRMT9B):c.44A>G (p.Asn15Ser)	LOC124049166, TRMT9B (N15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183126	NM_020844.3(TRMT9B):c.443A>G (p.Asn148Ser)	TRMT9B (N148S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183125	NM_020844.3(TRMT9B):c.433G>C (p.Glu145Gln)	TRMT9B (E145Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183124	NM_020844.3(TRMT9B):c.430A>G (p.Met144Val)	TRMT9B (M144V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183123	NM_020844.3(TRMT9B):c.400G>A (p.Gly134Arg)	TRMT9B (G8R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183122	NM_020844.3(TRMT9B):c.293G>A (p.Arg98Lys)	TRMT9B (R98K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183121	NM_020844.3(TRMT9B):c.245A>G (p.Asn82Ser)	TRMT9B (N82S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3183120	NM_020844.3(TRMT9B):c.202G>A (p.Val68Met)	TRMT9B (V68M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3183118	NM_020844.3(TRMT9B):c.185A>C (p.Asn62Thr)	TRMT9B (N62T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3183117	NM_020844.3(TRMT9B):c.1332T>G (p.Cys444Trp)	TRMT9B (C318W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183116	NM_020844.3(TRMT9B):c.1295G>A (p.Arg432His)	TRMT9B (R306H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3183115	NM_020844.3(TRMT9B):c.1276G>A (p.Glu426Lys)	TRMT9B (E300K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183114	NM_020844.3(TRMT9B):c.1262G>T (p.Cys421Phe)	TRMT9B (C295F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183113	NM_020844.3(TRMT9B):c.1174A>G (p.Thr392Ala)	TRMT9B (T392A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183112	NM_020844.3(TRMT9B):c.115C>G (p.Leu39Val)	LOC124049166, TRMT9B (L39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183111	NM_020844.3(TRMT9B):c.1151C>G (p.Ser384Cys)	TRMT9B (S384C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183110	NM_020844.3(TRMT9B):c.1131A>T (p.Arg377Ser)	TRMT9B (R251S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183109	NM_020844.3(TRMT9B):c.111G>C (p.Gln37His)	LOC124049166, TRMT9B (Q37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183108	NM_020844.3(TRMT9B):c.1108C>G (p.Pro370Ala)	TRMT9B (P244A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183107	NM_020844.3(TRMT9B):c.107G>C (p.Arg36Pro)	LOC124049166, TRMT9B (R36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183106	NM_020844.3(TRMT9B):c.1076G>T (p.Cys359Phe)	TRMT9B (C359F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183105	NM_020844.3(TRMT9B):c.1064C>G (p.Thr355Ser)	TRMT9B (T355S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183104	NM_020844.3(TRMT9B):c.1036G>A (p.Gly346Arg)	TRMT9B (G346R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183103	NM_020844.3(TRMT9B):c.1034G>C (p.Gly345Ala)	TRMT9B (G219A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3063031	GRCh37/hg19 8p23.1-22(chr8:12560781-16099271)x3	C8orf48, DLC1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684527	GRCh37/hg19 8p23.1-22(chr8:12560782-13948729)x3	C8orf48, DLC1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2620928	NM_020844.3(TRMT9B):c.860C>G (p.Ser287Cys)	TRMT9B (S161C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613041	NM_020844.3(TRMT9B):c.116T>G (p.Leu39Arg)	LOC124049166, TRMT9B (L39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608831	NM_020844.3(TRMT9B):c.43A>G (p.Asn15Asp)	LOC124049166, TRMT9B (N15D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603395	NM_020844.3(TRMT9B):c.307G>A (p.Asp103Asn)	TRMT9B (D103N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600600	NM_020844.3(TRMT9B):c.353A>G (p.Gln118Arg)	TRMT9B (Q118R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2595929	NM_020844.3(TRMT9B):c.658G>A (p.Ala220Thr)	TRMT9B (A220T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595415	NM_020844.3(TRMT9B):c.254G>A (p.Cys85Tyr)	TRMT9B (C85Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2591351	NM_020844.3(TRMT9B):c.1217C>T (p.Thr406Ile)	TRMT9B (T280I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2570066	NM_020844.3(TRMT9B):c.389T>C (p.Val130Ala)	TRMT9B (V130A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553505	NM_020844.3(TRMT9B):c.320C>T (p.Ser107Phe)	TRMT9B (S107F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548112	NM_020844.3(TRMT9B):c.55A>G (p.Ser19Gly)	LOC124049166, TRMT9B (S19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530777	NM_020844.3(TRMT9B):c.797A>G (p.Glu266Gly)	TRMT9B (E266G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521507	NM_020844.3(TRMT9B):c.1179G>A (p.Met393Ile)	TRMT9B (M267I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517150	NM_020844.3(TRMT9B):c.45T>A (p.Asn15Lys)	LOC124049166, TRMT9B (N15K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478686	NM_020844.3(TRMT9B):c.191A>G (p.Gln64Arg)	TRMT9B (Q64R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2459462	NM_020844.3(TRMT9B):c.86G>A (p.Ser29Asn)	LOC124049166, TRMT9B (S29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808445	GRCh37/hg19 8p23.1-22(chr8:12552776-13937912)x3	C8orf48, DLC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 980303	GRCh37/hg19 8p22(chr8:12863326-12917220)x1	TRMT9B	Copy number loss	not provided	GLikely benign
Select item 815099	GRCh37/hg19 8p23.1-22(chr8:12490998-13074855)x3	DLC1, LONRF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687060	GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1	USP17L4, USP17L7 +75 more	Copy number loss	not provided	GPathogenic
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 585238	GRCh37/hg19 8p23.1-22(chr8:12559475-13050887)x3	DLC1, LONRF1 +1 more	Copy number gain	not provided	Gnot provided
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563551	GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	LONRF1, NEIL2 +76 more	Copy number gain	not provided	GPathogenic
Select item 563550	GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	DEFB105A, USP17L1 +75 more	Copy number gain	not provided	GPathogenic
Select item 563548	GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2	MTMR9, MYOM2 +73 more	Copy number gain	not provided	GPathogenic
Select item 563509	GRCh37/hg19 8p23.1-22(chr8:12549214-13269408)x3	DLC1, LONRF1 +1 more	Copy number gain	not provided	GUncertain significance

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