"Invitae"[submitter] AND "TBL1XR1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 658438	NC_000003.11:g.(?_176743266)_(176782785_?)dup	LOC129937938, LOC129937939 +4 more	Duplication	Pierpont syndrome	GUncertain significance
Select item 536412	NM_024665.7(TBL1XR1):c.1545G>A (p.Ter515=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome +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 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 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)	Pierpont syndrome +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 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 2749407	NM_024665.7(TBL1XR1):c.1488C>T (p.Asp496=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
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)	Inborn genetic diseases +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)	not provided +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 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 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 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 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 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 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 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 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 1092857	NM_024665.7(TBL1XR1):c.1266T>C (p.Ser422=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1582752	NM_024665.7(TBL1XR1):c.1257C>T (p.Ser419=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1637589	NM_024665.7(TBL1XR1):c.1251-10_1251-7del	TBL1XR1	Microsatellite (intron variant)	Pierpont syndrome	GLikely benign
Select item 729132	NM_024665.7(TBL1XR1):c.1251-8T>A	TBL1XR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1964276	NM_024665.7(TBL1XR1):c.1251-9C>T	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 468533	NM_024665.7(TBL1XR1):c.1251-10C>T	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1633918	NM_024665.7(TBL1XR1):c.1251-11T>A	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1536690	NM_024665.7(TBL1XR1):c.1251-13C>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GBenign
Select item 1610882	NM_024665.7(TBL1XR1):c.1251-15T>C	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2691645	NM_024665.7(TBL1XR1):c.1251-19T>C	TBL1XR1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1979589	NM_024665.7(TBL1XR1):c.1250+17A>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1907860	NM_024665.7(TBL1XR1):c.1250+13T>C	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 755965	NM_024665.7(TBL1XR1):c.1250+7C>T	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2911978	NM_024665.7(TBL1XR1):c.1250+6A>T	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 650025	NM_024665.7(TBL1XR1):c.1246G>A (p.Ala416Thr)	TBL1XR1 (A329T +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2118460	NM_024665.7(TBL1XR1):c.1240A>C (p.Met414Leu)	TBL1XR1 (M414L +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 536409	NM_024665.7(TBL1XR1):c.1235A>G (p.Asn412Ser)	TBL1XR1 (N412S +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1007385	NM_024665.7(TBL1XR1):c.1228A>C (p.Asn410His)	TBL1XR1 (N323H +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1714096	NM_024665.7(TBL1XR1):c.1225C>A (p.Pro409Thr)	TBL1XR1 (P322T +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1361535	NM_024665.7(TBL1XR1):c.1225C>G (p.Pro409Ala)	TBL1XR1 (P322A +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1007986	NM_024665.7(TBL1XR1):c.1220A>G (p.Asn407Ser)	TBL1XR1 (N320S +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GLikely benign
Select item 2077164	NM_024665.7(TBL1XR1):c.1219A>G (p.Asn407Asp)	TBL1XR1 (N407D +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 656204	NM_024665.7(TBL1XR1):c.1217C>G (p.Thr406Ser)	TBL1XR1 (T319S +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome +1 more	GUncertain significance
Select item 1453577	NM_024665.7(TBL1XR1):c.1195T>A (p.Trp399Arg)	TBL1XR1 (W312R +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GPathogenic
Select item 1215855	NM_024665.7(TBL1XR1):c.1185T>C (p.Tyr395=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome +1 more	GLikely benign
Select item 1385699	NM_024665.7(TBL1XR1):c.1182T>G (p.Ile394Met)	TBL1XR1 (I307M +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GPathogenic
Select item 2918492	NM_024665.7(TBL1XR1):c.1173T>C (p.Asn391=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 976267	NM_024665.7(TBL1XR1):c.1172A>G (p.Asn391Ser)	TBL1XR1 (N304S +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2133764	NM_024665.7(TBL1XR1):c.1171A>G (p.Asn391Asp)	TBL1XR1 (N391D +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3012985	NM_024665.7(TBL1XR1):c.1161G>A (p.Leu387=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1388662	NM_024665.7(TBL1XR1):c.1160T>C (p.Leu387Ser)	TBL1XR1 (L300S +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1551943	NM_024665.7(TBL1XR1):c.1152C>T (p.Val384=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome +1 more	GLikely benign
Select item 1468887	NM_024665.7(TBL1XR1):c.1151T>C (p.Val384Ala)	TBL1XR1 (V384A +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2419645	NM_024665.7(TBL1XR1):c.1150G>T (p.Val384Phe)	TBL1XR1 (V297F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 589860	NM_024665.7(TBL1XR1):c.1145A>G (p.Asn382Ser)	TBL1XR1 (N382S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1603778	NM_024665.7(TBL1XR1):c.1143C>T (p.Asp381=)	TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 422143	NM_024665.7(TBL1XR1):c.1126T>C (p.Trp376Arg)	TBL1XR1 (W376R +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1352047	NM_024665.7(TBL1XR1):c.1125A>G (p.Ile375Met)	TBL1XR1 (I375M +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1167320	NM_024665.7(TBL1XR1):c.1123-14T>G	TBL1XR1	Single nucleotide variant (intron variant)	Pierpont syndrome	GBenign
Select item 1962783	NM_024665.7(TBL1XR1):c.1122+16G>A	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1609480	NM_024665.7(TBL1XR1):c.1122+15A>T	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1542928	NM_024665.7(TBL1XR1):c.1122+13G>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2088376	NM_024665.7(TBL1XR1):c.1122+12A>G	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2785014	NM_024665.7(TBL1XR1):c.1122+5T>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 2075108	NM_024665.7(TBL1XR1):c.1107C>T (p.Asp369=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	TBL1XR1-related condition +1 more	GLikely benign
Select item 2960177	NM_024665.7(TBL1XR1):c.1104T>G (p.Ser368=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1362446	NM_024665.7(TBL1XR1):c.1097C>T (p.Ser366Phe)	LOC126806878, TBL1XR1 +1 more (S279F +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1529557	NM_024665.7(TBL1XR1):c.1095C>G (p.Ala365=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1123934	NM_024665.7(TBL1XR1):c.1090T>C (p.Leu364=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 748726	NM_024665.7(TBL1XR1):c.1089C>G (p.Leu363=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2081079	NM_024665.7(TBL1XR1):c.1085A>G (p.Asn362Ser)	LOC126806878, TBL1XR1 +1 more (N275S +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1076725	NM_024665.7(TBL1XR1):c.1071G>A (p.Trp357Ter)	LOC126806878, TBL1XR1 +1 more (W270* +1 more)	Single nucleotide variant (nonsense)	Pierpont syndrome	GPathogenic

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