TRIM26[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 3182321	NM_003449.5(TRIM26):c.1460G>A (p.Arg487Gln)	TRIM26 (R487Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489841	NM_003449.5(TRIM26):c.1390C>T (p.Arg464Cys)	TRIM26 (R464C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609649	NM_003449.5(TRIM26):c.1276G>C (p.Glu426Gln)	TRIM26 (E426Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182319	NM_003449.5(TRIM26):c.1249G>A (p.Glu417Lys)	TRIM26 (E417K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557266	NM_003449.5(TRIM26):c.1208A>T (p.Tyr403Phe)	TRIM26 (Y403F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182318	NM_003449.5(TRIM26):c.1172A>C (p.Glu391Ala)	TRIM26 (E391A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328675	NM_003449.5(TRIM26):c.1144G>A (p.Asp382Asn)	TRIM26 (D382N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338925	NM_003449.5(TRIM26):c.1036C>G (p.Leu346Val)	TRIM26 (L346V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289140	NM_003449.5(TRIM26):c.934A>T (p.Thr312Ser)	TRIM26 (T312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328673	NM_003449.5(TRIM26):c.884G>A (p.Arg295Gln)	TRIM26 (R295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182326	NM_003449.5(TRIM26):c.770C>T (p.Thr257Met)	TRIM26 (T257M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299467	NM_003449.5(TRIM26):c.701G>A (p.Arg234Gln)	TRIM26 (R234Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390553	NM_003449.5(TRIM26):c.685G>A (p.Val229Ile)	TRIM26 (V229I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363170	NM_003449.5(TRIM26):c.653C>T (p.Thr218Met)	TRIM26 (T218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328674	NM_003449.5(TRIM26):c.601G>A (p.Glu201Lys)	TRIM26 (E201K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182325	NM_003449.5(TRIM26):c.563T>C (p.Ile188Thr)	TRIM26 (I188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518204	NM_003449.5(TRIM26):c.562A>G (p.Ile188Val)	TRIM26 (I188V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384975	NM_003449.5(TRIM26):c.529G>A (p.Ala177Thr)	TRIM26 (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328672	NM_003449.5(TRIM26):c.521T>C (p.Ile174Thr)	TRIM26 (I174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287140	NM_003449.5(TRIM26):c.382C>T (p.Arg128Trp)	TRIM26 (R128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182324	NM_003449.5(TRIM26):c.380C>G (p.Ser127Cys)	TRIM26 (S127C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272758	NM_003449.5(TRIM26):c.374G>A (p.Arg125Gln)	TRIM26 (R125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338949	NM_003449.5(TRIM26):c.364G>A (p.Val122Met)	TRIM26 (V122M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182323	NM_003449.5(TRIM26):c.280C>T (p.Arg94Trp)	TRIM26 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464378	NM_003449.5(TRIM26):c.266C>T (p.Pro89Leu)	TRIM26 (P89L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3182322	NM_003449.5(TRIM26):c.149G>A (p.Arg50His)	TRIM26 (R50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227479	NM_003449.5(TRIM26):c.134C>G (p.Pro45Arg)	TRIM26 (P45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182320	NM_003449.5(TRIM26):c.127G>A (p.Val43Ile)	TRIM26 (V43I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808143	GRCh37/hg19 6p22.1(chr6:29730504-30202199)x3	HCG17, HLA-A +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807671	GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3	GABBR1, HCG17 +23 more	Copy number gain	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 36