"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "TBL1XR1 - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 658438	NC_000003.11:g.(?_176743266)_(176782785_?)dup	LOC112935911, LOC126806878 +4 more	Duplication	Pierpont syndrome	GUncertain significance
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)	Pierpont syndrome	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
Select item 647180	NM_024665.7(TBL1XR1):c.1048-1G>A	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (splice acceptor variant)	Pierpont syndrome	GLikely pathogenic
Select item 2795716	NM_024665.7(TBL1XR1):c.1048-7T>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2160917	NM_024665.7(TBL1XR1):c.1047+5G>T	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 624036	NM_024665.7(TBL1XR1):c.1047+4A>G	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome +1 more	GUncertain significance
Select item 649049	NM_024665.7(TBL1XR1):c.1047+3A>G	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 2013003	NM_024665.7(TBL1XR1):c.1047G>T (p.Thr349=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GUncertain significance
Select item 861216	NM_024665.7(TBL1XR1):c.1047G>A (p.Thr349=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2729164	NM_024665.7(TBL1XR1):c.1046C>T (p.Thr349Met)	LOC126806878, TBL1XR1 +1 more (T262M +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2798880	NM_024665.7(TBL1XR1):c.1026T>A (p.Ile342=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2892945	NM_024665.7(TBL1XR1):c.1022C>T (p.Pro341Leu)	LOC126806878, TBL1XR1 +1 more (P254L +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 666258	NM_024665.7(TBL1XR1):c.1000T>C (p.Cys334Arg)	LOC126806878, TBL1XR1 +1 more (C334R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41 +1 more	GConflicting classifications of pathogenicity
Select item 2788994	NM_024665.7(TBL1XR1):c.999C>T (p.Val333=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1929355	NM_024665.7(TBL1XR1):c.977G>A (p.Ser326Asn)	LOC126806878, TBL1XR1 +1 more (S239N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pierpont syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1403806	NM_024665.7(TBL1XR1):c.961A>G (p.Thr321Ala)	LOC126806878, TBL1XR1 +1 more (T321A +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome +1 more	GUncertain significance
Select item 2820009	NM_024665.7(TBL1XR1):c.959A>C (p.Asn320Thr)	LOC126806878, TBL1XR1 +1 more (N233T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pierpont syndrome	GUncertain significance
Select item 743077	NM_024665.7(TBL1XR1):c.957C>T (p.Asn319=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 587849	NM_024665.7(TBL1XR1):c.945T>C (p.Asp315=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome +1 more	GLikely benign
Select item 1535265	NM_024665.7(TBL1XR1):c.933A>G (p.Ala311=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome +1 more	GLikely benign
Select item 2413867	NM_024665.7(TBL1XR1):c.926-4G>T	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Pierpont syndrome	GLikely benign
Select item 536413	NM_024665.7(TBL1XR1):c.926-6T>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 448647	NM_024665.7(TBL1XR1):c.926-8C>T	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome +1 more	GBenign
Select item 1200708	NM_024665.7(TBL1XR1):c.926-12G>T	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome +1 more	GLikely benign
Select item 1593566	NM_024665.7(TBL1XR1):c.926-16C>G	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1603633	NM_024665.7(TBL1XR1):c.926-18A>G	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1624600	NM_024665.7(TBL1XR1):c.926-20T>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1559385	NM_024665.7(TBL1XR1):c.925+20C>T	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1637408	NM_024665.7(TBL1XR1):c.925+13T>C	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2035706	NM_024665.7(TBL1XR1):c.925+12A>T	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1578648	NM_024665.7(TBL1XR1):c.925+7T>C	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2769031	NM_024665.7(TBL1XR1):c.925+3A>G	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
Select item 588753	NM_024665.7(TBL1XR1):c.915T>A (p.Pro305=)	TBL1XR1-AS1, TBL1XR1	Single nucleotide variant (synonymous variant)	Pierpont syndrome +1 more	GLikely benign
Select item 1980225	NM_024665.7(TBL1XR1):c.906A>G (p.Gln302=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2880374	NM_024665.7(TBL1XR1):c.887A>G (p.His296Arg)	TBL1XR1, TBL1XR1-AS1 (H209R +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 758018	NM_024665.7(TBL1XR1):c.882C>T (p.Asp294=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome +1 more	GLikely benign
Select item 1515223	NM_024665.7(TBL1XR1):c.865-5C>G	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2010324	NM_024665.7(TBL1XR1):c.865-6T>A	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1622056	NM_024665.7(TBL1XR1):c.865-13_865-8del	TBL1XR1, TBL1XR1-AS1	Deletion (intron variant)	Pierpont syndrome	GLikely benign
Select item 3015047	NM_024665.7(TBL1XR1):c.865-14C>T	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1549947	NM_024665.7(TBL1XR1):c.865-18T>G	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1599984	NM_024665.7(TBL1XR1):c.865-19C>T	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GBenign
Select item 1600409	NM_024665.7(TBL1XR1):c.865-20del	TBL1XR1, TBL1XR1-AS1	Deletion (intron variant)	Pierpont syndrome	GBenign
Select item 2078456	NM_024665.7(TBL1XR1):c.864+7del	TBL1XR1, TBL1XR1-AS1	Deletion (intron variant)	Pierpont syndrome	GLikely benign
Select item 2024079	NM_024665.7(TBL1XR1):c.864+1G>A	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (splice donor variant)	Pierpont syndrome	GLikely pathogenic
Select item 2184798	NM_024665.7(TBL1XR1):c.846A>G (p.Leu282=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1126596	NM_024665.7(TBL1XR1):c.843C>T (p.Ile281=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1109130	NM_024665.7(TBL1XR1):c.840C>T (p.Phe280=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2854416	NM_024665.7(TBL1XR1):c.830_831del (p.Lys277fs)	TBL1XR1, TBL1XR1-AS1 (K190fs +1 more)	Deletion (frameshift variant)	Pierpont syndrome	GPathogenic
Select item 2101009	NM_024665.7(TBL1XR1):c.827A>G (p.Lys276Arg)	TBL1XR1, TBL1XR1-AS1 (K276R +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1400681	NM_024665.7(TBL1XR1):c.819A>G (p.Lys273=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2105770	NM_024665.7(TBL1XR1):c.818A>G (p.Lys273Arg)	TBL1XR1, TBL1XR1-AS1 (K186R +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1543313	NM_024665.7(TBL1XR1):c.813A>G (p.Ala271=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1547039	NM_024665.7(TBL1XR1):c.798A>G (p.Lys266=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 468540	NM_024665.7(TBL1XR1):c.792G>A (p.Gln264=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome +1 more	GLikely benign
Select item 1432291	NM_024665.7(TBL1XR1):c.787G>A (p.Gly263Arg)	TBL1XR1, TBL1XR1-AS1 (G263R +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1094741	NM_024665.7(TBL1XR1):c.783C>T (p.Thr261=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2760511	NM_024665.7(TBL1XR1):c.776_780dup (p.Thr261fs)	TBL1XR1, TBL1XR1-AS1 (T174fs +1 more)	Duplication (frameshift variant)	Pierpont syndrome	GPathogenic
Select item 2975280	NM_024665.7(TBL1XR1):c.780C>T (p.Ser260=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 746184	NM_024665.7(TBL1XR1):c.767-7A>G	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2114386	NM_024665.7(TBL1XR1):c.767-9G>A	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 536410	NM_024665.7(TBL1XR1):c.767-10T>C	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome +1 more	GLikely benign
Select item 2180104	NM_024665.7(TBL1XR1):c.767-23_767-18del	TBL1XR1, TBL1XR1-AS1	Microsatellite (intron variant)	Pierpont syndrome	GLikely benign
Select item 3015648	NM_024665.7(TBL1XR1):c.766+17C>T	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 2132198	NM_024665.7(TBL1XR1):c.766+13T>C	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 745801	NM_024665.7(TBL1XR1):c.766+10G>A	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2124657	NM_024665.7(TBL1XR1):c.766+9A>G	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1925362	NM_024665.7(TBL1XR1):c.766+7G>A	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 586783	NM_024665.7(TBL1XR1):c.766+5A>G	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome +2 more	GBenign
Select item 225873	NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys)	TBL1XR1, TBL1XR1-AS1 (Y245C +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2920058	NM_024665.7(TBL1XR1):c.732C>T (p.Ser244=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 2105778	NM_024665.7(TBL1XR1):c.724A>G (p.Thr242Ala)	TBL1XR1, TBL1XR1-AS1 (T242A +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1926573	NM_024665.7(TBL1XR1):c.718C>T (p.Leu240=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1979184	NM_024665.7(TBL1XR1):c.714A>C (p.Thr238=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 1546464	NM_024665.7(TBL1XR1):c.714A>T (p.Thr238=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 468539	NM_024665.7(TBL1XR1):c.714A>G (p.Thr238=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
Select item 3013772	NM_024665.7(TBL1XR1):c.712A>G (p.Thr238Ala)	TBL1XR1, TBL1XR1-AS1 (T238A +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 1356241	NM_024665.7(TBL1XR1):c.712A>C (p.Thr238Pro)	TBL1XR1, TBL1XR1-AS1 (T238P +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2124963	NM_024665.7(TBL1XR1):c.704G>A (p.Ser235Asn)	TBL1XR1, TBL1XR1-AS1 (S148N +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 3021487	NM_024665.7(TBL1XR1):c.703A>G (p.Ser235Gly)	TBL1XR1, TBL1XR1-AS1 (S235G +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GUncertain significance
Select item 2034140	NM_024665.7(TBL1XR1):c.703-4G>A	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1989753	NM_024665.7(TBL1XR1):c.703-10del	TBL1XR1, TBL1XR1-AS1	Deletion (intron variant)	Pierpont syndrome	GBenign

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Items: 94