15579[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 1275111	NM_030912.3(TRIM8):c.-40A>T	TRIM8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1318796	NM_030912.3(TRIM8):c.1A>G (p.Met1Val)	TRIM8 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2414579	NM_030912.3(TRIM8):c.23G>T (p.Cys8Phe)	TRIM8 (C8F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2859125	NM_030912.3(TRIM8):c.32A>T (p.Glu11Val)	TRIM8 (E11V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1331611	NM_030912.3(TRIM8):c.35A>C (p.Glu12Ala)	TRIM8 (E12A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2739457	NM_030912.3(TRIM8):c.36G>C (p.Glu12Asp)	TRIM8 (E12D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1596826	NM_030912.3(TRIM8):c.42C>G (p.Ile14Met)	TRIM8 (I14M)	Single nucleotide variant (missense variant +1 more)	TRIM8-related disorder +2 more	GLikely benign
Select item 1627263	NM_030912.3(TRIM8):c.45C>T (p.Cys15=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2992535	NM_030912.3(TRIM8):c.54C>T (p.Cys18=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1899368	NM_030912.3(TRIM8):c.60C>A (p.His20Gln)	TRIM8 (H20Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2007154	NM_030912.3(TRIM8):c.69G>T (p.Val23=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2007000	NM_030912.3(TRIM8):c.74C>T (p.Pro25Leu)	TRIM8 (P25L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2776337	NM_030912.3(TRIM8):c.90C>T (p.Cys30=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1933748	NM_030912.3(TRIM8):c.94C>G (p.His32Asp)	TRIM8 (H32D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1914217	NM_030912.3(TRIM8):c.110G>T (p.Gly37Val)	TRIM8 (G37V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3182828	NM_030912.3(TRIM8):c.119G>C (p.Gly40Ala)	LOC130004618, TRIM8 (G40A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2077612	NM_030912.3(TRIM8):c.120C>T (p.Gly40=)	LOC130004618, TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3252861	NM_030912.3(TRIM8):c.133A>G (p.Lys45Glu)	LOC130004618, TRIM8 (K45E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2230011	NM_030912.3(TRIM8):c.136G>A (p.Asp46Asn)	LOC130004618, TRIM8 (D46N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2803022	NM_030912.3(TRIM8):c.147C>T (p.Leu49=)	LOC130004618, TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1318558	NM_030912.3(TRIM8):c.154T>A (p.Cys52Ser)	LOC130004618, TRIM8 (C52S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1299333	NM_030912.3(TRIM8):c.167_169delinsTCT (p.Asn56_Gln57delinsIleTer)	LOC130004618, TRIM8	Indel (nonsense +1 more)	Focal segmental glomerulosclerosis and neurodevelopmental syndrome	GUncertain significance
Select item 1973107	NM_030912.3(TRIM8):c.180C>T (p.Asn60=)	LOC130004618, TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1949042	NM_030912.3(TRIM8):c.184A>C (p.Lys62Gln)	LOC130004618, TRIM8 (K62Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2183141	NM_030912.3(TRIM8):c.189G>C (p.Pro63=)	LOC130004618, TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1933411	NM_030912.3(TRIM8):c.189G>A (p.Pro63=)	LOC130004618, TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1355289	NM_030912.3(TRIM8):c.190G>T (p.Gly64Cys)	TRIM8, LOC130004618 (G64C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2976414	NM_030912.3(TRIM8):c.191G>C (p.Gly64Ala)	LOC130004618, TRIM8 (G64A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2049497	NM_030912.3(TRIM8):c.210G>A (p.Lys70=)	LOC130004618, TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005459	NM_030912.3(TRIM8):c.218A>G (p.Asn73Ser)	LOC130004618, TRIM8 (N73S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2013585	NM_030912.3(TRIM8):c.231G>A (p.Lys77=)	TRIM8, LOC130004618	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2085116	NM_030912.3(TRIM8):c.238G>T (p.Ala80Ser)	LOC130004618, TRIM8 (A80S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1981031	NM_030912.3(TRIM8):c.238G>A (p.Ala80Thr)	LOC130004618, TRIM8 (A80T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1969181	NM_030912.3(TRIM8):c.243G>C (p.Leu81=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1949559	NM_030912.3(TRIM8):c.244C>T (p.His82Tyr)	TRIM8 (H82Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796831	NM_030912.3(TRIM8):c.246C>T (p.His82=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2082563	NM_030912.3(TRIM8):c.246C>G (p.His82Gln)	TRIM8 (H82Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2071212	NM_030912.3(TRIM8):c.256C>G (p.Pro86Ala)	TRIM8 (P86A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2045536	NM_030912.3(TRIM8):c.257C>T (p.Pro86Leu)	TRIM8 (P86L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1905327	NM_030912.3(TRIM8):c.260C>T (p.Pro87Leu)	TRIM8 (P87L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1592123	NM_030912.3(TRIM8):c.267G>A (p.Ala89=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1969344	NM_030912.3(TRIM8):c.269T>C (p.Leu90Pro)	TRIM8 (L90P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1328030	NM_030912.3(TRIM8):c.270G>A (p.Leu90=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1316048	NM_030912.3(TRIM8):c.299dup (p.Leu101fs)	TRIM8 (L101fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2829247	NM_030912.3(TRIM8):c.295C>T (p.Pro99Ser)	TRIM8 (P99S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2442782	NM_030912.3(TRIM8):c.313_315del (p.Lys105del)	TRIM8 (K105del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2702478	NM_030912.3(TRIM8):c.312G>T (p.Gln104His)	TRIM8 (Q104H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500505	NM_030912.3(TRIM8):c.315G>T (p.Lys105Asn)	TRIM8 (K105N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2067843	NM_030912.3(TRIM8):c.333G>A (p.Glu111=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2012513	NM_030912.3(TRIM8):c.335C>G (p.Ala112Gly)	TRIM8 (A112G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413587	NM_030912.3(TRIM8):c.339C>G (p.Pro113=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2831773	NM_030912.3(TRIM8):c.346C>T (p.Gln116Ter)	TRIM8 (Q116*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2066069	NM_030912.3(TRIM8):c.350C>T (p.Ser117Phe)	TRIM8 (S117F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499192	NM_030912.3(TRIM8):c.353A>T (p.His118Leu)	TRIM8 (H118L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2999814	NM_030912.3(TRIM8):c.354C>T (p.His118=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2114747	NM_030912.3(TRIM8):c.354C>A (p.His118Gln)	TRIM8 (H118Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2966658	NM_030912.3(TRIM8):c.357G>A (p.Val119=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	TRIM8-related disorder +1 more	GLikely benign
Select item 2078239	NM_030912.3(TRIM8):c.369G>A (p.Leu123=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2027229	NM_030912.3(TRIM8):c.379T>G (p.Ser127Ala)	TRIM8 (S127A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1983029	NM_030912.3(TRIM8):c.386C>T (p.Ala129Val)	TRIM8 (A129V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2973687	NM_030912.3(TRIM8):c.400C>A (p.Leu134Met)	TRIM8 (L134M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1927788	NM_030912.3(TRIM8):c.409G>A (p.Ala137Thr)	TRIM8 (A137T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1577110	NM_030912.3(TRIM8):c.412G>A (p.Asp138Asn)	TRIM8 (D138N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2895075	NM_030912.3(TRIM8):c.415G>A (p.Asp139Asn)	TRIM8 (D139N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2903237	NM_030912.3(TRIM8):c.417C>T (p.Asp139=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2766442	NM_030912.3(TRIM8):c.422G>C (p.Arg141Pro)	TRIM8 (R141P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974305	NM_030912.3(TRIM8):c.426C>T (p.Ala142=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1917724	NM_030912.3(TRIM8):c.435C>T (p.Cys145=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2868681	NM_030912.3(TRIM8):c.448G>T (p.Ala150Ser)	TRIM8 (A150S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2776968	NM_030912.3(TRIM8):c.450C>T (p.Ala150=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2413588	NM_030912.3(TRIM8):c.459C>G (p.Leu153=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1922947	NM_030912.3(TRIM8):c.468C>T (p.Cys156=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2765980	NM_030912.3(TRIM8):c.471_472delinsTA (p.Glu157_Ala158delinsAspThr)	TRIM8	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1946279	NM_030912.3(TRIM8):c.471G>A (p.Glu157=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2082739	NM_030912.3(TRIM8):c.478C>T (p.Gln160Ter)	TRIM8 (Q160*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2062117	NM_030912.3(TRIM8):c.484G>A (p.Ala162Thr)	TRIM8 (A162T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2864800	NM_030912.3(TRIM8):c.486C>A (p.Ala162=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1723502	NM_030912.3(TRIM8):c.487G>A (p.Val163Met)	TRIM8 (V163M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2025258	NM_030912.3(TRIM8):c.500GCT[1] (p.Cys168del)	TRIM8 (C168del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2903238	NM_030912.3(TRIM8):c.519G>C (p.Ala173=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2846656	NM_030912.3(TRIM8):c.527G>T (p.Gly176Val)	TRIM8 (G176V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2996831	NM_030912.3(TRIM8):c.528A>T (p.Gly176=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893773	NM_030912.3(TRIM8):c.531C>T (p.His177=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2841861	NM_030912.3(TRIM8):c.544G>C (p.Val182Leu)	TRIM8 (V182L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2991058	NM_030912.3(TRIM8):c.546G>A (p.Val182=)	TRIM8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2806350	NM_030912.3(TRIM8):c.547G>C (p.Glu183Gln)	TRIM8 (E183Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1803749	NM_030912.3(TRIM8):c.553C>T (p.Arg185Ter)	TRIM8 (R185*)	Single nucleotide variant (nonsense +1 more)	Focal segmental glomerulosclerosis and neurodevelopmental syndrome	GUncertain significance
Select item 3022159	NM_030912.3(TRIM8):c.565A>T (p.Ile189Phe)	TRIM8 (I189F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2748562	NM_030912.3(TRIM8):c.570+7A>G	TRIM8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1672361	NM_030912.3(TRIM8):c.570+13CG[7]	TRIM8	Microsatellite (intron variant)	not provided	GBenign
Select item 1563636	NM_030912.3(TRIM8):c.570+13CG[8]	TRIM8	Microsatellite (intron variant)	not provided	GBenign
Select item 1945512	NM_030912.3(TRIM8):c.570+17C>T	TRIM8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902145	NM_030912.3(TRIM8):c.570+20G>A	TRIM8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2177292	NM_030912.3(TRIM8):c.595C>T (p.Arg199Trp)	TRIM8 (R199W)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2078107	NM_030912.3(TRIM8):c.596G>A (p.Arg199Gln)	TRIM8 (R199Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign

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