TBL1XR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 1707459	Single allele	LINC00501, LINC00578 +29 more	Duplication	not specified	GLikely pathogenic
Select item 147909	GRCh38/hg38 3q26.32(chr3:176992658-177191602)x3	LOC112935911, LOC123256946 +7 more	Copy number gain	See cases	GUncertain significance
Select item 658438	NC_000003.11:g.(?_176743266)_(176782785_?)dup	LOC129937938, LOC129937939 +4 more	Duplication	Pierpont syndrome	GUncertain significance
Select item 1691179	NM_024665.7(TBL1XR1):c.*2G>C	TBL1XR1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 536412	NM_024665.7(TBL1XR1):c.1545G>A (p.Ter515=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2763824	NM_024665.7(TBL1XR1):c.1542A>G (p.Lys514=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1605089	NM_024665.7(TBL1XR1):c.1539G>C (p.Arg513=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2430948	NM_024665.7(TBL1XR1):c.1538G>A (p.Arg513Gln)	TBL1XR1 (R426Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061380	NM_024665.7(TBL1XR1):c.1537C>T (p.Arg513Trp)	TBL1XR1 (R426W +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3252918	NM_024665.7(TBL1XR1):c.1532A>T (p.Asp511Val)	TBL1XR1 (D424V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110020	NM_024665.7(TBL1XR1):c.1527A>T (p.Val509=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 799265	NM_024665.7(TBL1XR1):c.1527A>C (p.Val509=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1477010	NM_024665.7(TBL1XR1):c.1523G>A (p.Cys508Tyr)	TBL1XR1 (C421Y +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2878471	NM_024665.7(TBL1XR1):c.1519-17A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1528438	NM_024665.7(TBL1XR1):c.1519-21_1519-18del	TBL1XR1	Deletion (intron variant)	Pierpont syndrome	GBenign
Select item 1236683	NM_024665.7(TBL1XR1):c.1518+129del	TBL1XR1	Deletion (intron variant)	not provided	GBenign
Select item 2043358	NM_024665.7(TBL1XR1):c.1518+20T>C	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2817997	NM_024665.7(TBL1XR1):c.1518+18T>A	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2828742	NM_024665.7(TBL1XR1):c.1518+8_1518+12del	TBL1XR1	Deletion (intron variant)	Pierpont syndrome	GLikely benign
Select item 2812076	NM_024665.7(TBL1XR1):c.1518+3A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 2892099	NM_024665.7(TBL1XR1):c.1518A>C (p.Ser506=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GUncertain significance
Select item 1979183	NM_024665.7(TBL1XR1):c.1512T>C (p.Asp504=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1632670	NM_024665.7(TBL1XR1):c.1506A>G (p.Ala502=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 981391	NM_024665.7(TBL1XR1):c.1496G>A (p.Gly499Glu)	TBL1XR1 (G412E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 423486	NM_024665.7(TBL1XR1):c.1492G>A (p.Val498Ile)	TBL1XR1 (V498I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749407	NM_024665.7(TBL1XR1):c.1488C>T (p.Asp496=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1028838	NM_024665.7(TBL1XR1):c.1486G>A (p.Asp496Asn)	TBL1XR1 (D496N +1 more)	Single nucleotide variant (missense variant)	TBL1XR1-related disorder +1 more	GUncertain significance
Select item 1335547	NM_024665.7(TBL1XR1):c.1481C>T (p.Ala494Val)	TBL1XR1 (A407V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986272	NM_024665.7(TBL1XR1):c.1454G>A (p.Gly485Glu)	TBL1XR1 (G398E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1228378	NM_024665.7(TBL1XR1):c.1453G>A (p.Gly485Arg)	TBL1XR1 (G398R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GLikely pathogenic
Select item 2031296	NM_024665.7(TBL1XR1):c.1449A>G (p.Thr483=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 536411	NM_024665.7(TBL1XR1):c.1428A>G (p.Leu476=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome +2 more	GBenign/Likely benign
Select item 2414811	NM_024665.7(TBL1XR1):c.1425T>C (p.Ala475=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 445776	NM_024665.7(TBL1XR1):c.1424C>T (p.Ala475Val)	TBL1XR1 (A475V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 586782	NM_024665.7(TBL1XR1):c.1418C>T (p.Thr473Ile)	TBL1XR1 (T473I +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome +1 more	GUncertain significance
Select item 2106130	NM_024665.7(TBL1XR1):c.1417A>G (p.Thr473Ala)	TBL1XR1 (T473A +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1158463	NM_024665.7(TBL1XR1):c.1417-7C>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2035459	NM_024665.7(TBL1XR1):c.1417-10A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1304953	NM_024665.7(TBL1XR1):c.1417-12dup	TBL1XR1	Duplication (intron variant)	Pierpont syndrome +1 more	GBenign/Likely benign
Select item 1178032	NM_024665.7(TBL1XR1):c.1417-16_1417-15dup	TBL1XR1	Duplication (intron variant)	Pierpont syndrome +1 more	GBenign/Likely benign
Select item 1604463	NM_024665.7(TBL1XR1):c.1417-19T>C	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1204957	NM_024665.7(TBL1XR1):c.1417-34dup	TBL1XR1	Duplication (intron variant)	not provided	GLikely benign
Select item 1207925	NM_024665.7(TBL1XR1):c.1417-317T>C	TBL1XR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269632	NM_024665.7(TBL1XR1):c.1416+206_1416+212del	TBL1XR1	Microsatellite (intron variant)	not provided	GBenign
Select item 1250981	NM_024665.7(TBL1XR1):c.1416+25C>G	TBL1XR1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2420983	NM_024665.7(TBL1XR1):c.1416+20A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 445304	NM_024665.7(TBL1XR1):c.1416+14A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome +1 more	GBenign/Likely benign
Select item 872140	NM_024665.7(TBL1XR1):c.1416+8T>G	TBL1XR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1356207	NM_024665.7(TBL1XR1):c.1416+4T>C	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 1101489	NM_024665.7(TBL1XR1):c.1413G>A (p.Thr471=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1309317	NM_024665.7(TBL1XR1):c.1408A>G (p.Asn470Asp)	TBL1XR1 (N383D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419630	NM_024665.7(TBL1XR1):c.1400_1402dup (p.His467_Ile468insAsn)	TBL1XR1	Duplication (inframe_insertion)	not provided	GLikely pathogenic
Select item 1470992	NM_024665.7(TBL1XR1):c.1392A>G (p.Lys464=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 569007	NM_024665.7(TBL1XR1):c.1387G>A (p.Asp463Asn)	TBL1XR1 (D463N +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GLikely pathogenic
Select item 2772384	NM_024665.7(TBL1XR1):c.1385T>C (p.Phe462Ser)	TBL1XR1 (F462S +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3012984	NM_024665.7(TBL1XR1):c.1383T>C (p.Ser461=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 3220861	NM_024665.7(TBL1XR1):c.1379G>T (p.Gly460Val)	TBL1XR1 (G373V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GLikely pathogenic
Select item 1188842	NM_024665.7(TBL1XR1):c.1378G>A (p.Gly460Ser)	TBL1XR1 (G373S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GLikely pathogenic
Select item 985131	NM_024665.7(TBL1XR1):c.1373C>A (p.Ala458Glu)	TBL1XR1 (A371E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 817137	NM_024665.7(TBL1XR1):c.1362_1365dup (p.Tyr456fs)	TBL1XR1 (Y369fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1159307	NM_024665.7(TBL1XR1):c.1365G>A (p.Arg455=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1971391	NM_024665.7(TBL1XR1):c.1364G>A (p.Arg455Lys)	TBL1XR1 (R368K +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2772237	NM_024665.7(TBL1XR1):c.1346C>T (p.Ala449Val)	TBL1XR1 (A362V +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2179332	NM_024665.7(TBL1XR1):c.1344A>G (p.Val448=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1020842	NM_024665.7(TBL1XR1):c.1342G>A (p.Val448Ile)	TBL1XR1 (V361I +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 521890	NM_024665.7(TBL1XR1):c.1341T>G (p.Ser447Arg)	TBL1XR1 (S447R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1686249	NM_024665.7(TBL1XR1):c.1340G>A (p.Ser447Asn)	TBL1XR1 (S360N +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GPathogenic
Select item 225874	NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys)	TBL1XR1 (Y446C +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome +1 more	GPathogenic
Select item 1176162	NM_024665.7(TBL1XR1):c.1336T>A (p.Tyr446Asn)	TBL1XR1 (Y359N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 627550	NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His)	TBL1XR1 (Y446H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GLikely pathogenic
Select item 559571	NM_024665.7(TBL1XR1):c.1336T>G (p.Tyr446Asp)	TBL1XR1 (Y446D +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2850020	NM_024665.7(TBL1XR1):c.1333G>A (p.Val445Met)	TBL1XR1 (V358M +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1220231	NM_024665.7(TBL1XR1):c.1333G>C (p.Val445Leu)	TBL1XR1 (V358L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3254814	NM_024665.7(TBL1XR1):c.1331C>T (p.Pro444Leu)	TBL1XR1 (P357L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GPathogenic
Select item 1404186	NM_024665.7(TBL1XR1):c.1323_1325del (p.His441del)	TBL1XR1 (H441del +1 more)	Deletion (inframe_deletion)	Pierpont syndrome	GUncertain significance
Select item 2730156	NM_024665.7(TBL1XR1):c.1302C>T (p.Cys434=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1413829	NM_024665.7(TBL1XR1):c.1301G>A (p.Cys434Tyr)	TBL1XR1 (C434Y +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2579577	NM_024665.7(TBL1XR1):c.1297A>T (p.Ile433Leu)	TBL1XR1 (I346L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981384	NM_024665.7(TBL1XR1):c.1291C>T (p.Arg431Ter)	TBL1XR1 (R344* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 590051	NM_024665.7(TBL1XR1):c.1291C>G (p.Arg431Gly)	TBL1XR1 (R431G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2115401	NM_024665.7(TBL1XR1):c.1290C>A (p.Asp430Glu)	TBL1XR1 (D343E +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2574732	NM_024665.7(TBL1XR1):c.1276T>A (p.Leu426Ile)	TBL1XR1 (L339I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333317	NM_024665.7(TBL1XR1):c.1270G>A (p.Val424Ile)	TBL1XR1 (V337I +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1092857	NM_024665.7(TBL1XR1):c.1266T>C (p.Ser422=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1802079	NM_024665.7(TBL1XR1):c.1258T>G (p.Phe420Val)	TBL1XR1 (F333V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1582752	NM_024665.7(TBL1XR1):c.1257C>T (p.Ser419=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 450828	NM_024665.7(TBL1XR1):c.1256C>T (p.Ser419Phe)	TBL1XR1 (S419F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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