Related gene-specific medical variations for Gene (Select 79718) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246898	NC_000003.11:g.(?_176743286)_(176769534_?)dup	TBL1XR1	Duplication	Pierpont syndrome	GUncertain significance
Select item 3246897	NC_000003.11:g.(?_176782688)_(176782765_?)dup	TBL1XR1	Duplication	Pierpont syndrome	GUncertain significance
Select item 3174822	NM_024665.7(TBL1XR1):c.935T>C (p.Leu312Ser)	LOC126806878, TBL1XR1 +1 more (L225S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068347	NM_024665.7(TBL1XR1):c.1010G>A (p.Gly337Glu)	LOC126806878, TBL1XR1 +1 more (G250E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GUncertain significance
Select item 3062740	GRCh37/hg19 3q26.32(chr3:176619469-177066783)x3	TBL1XR1	Copy number gain	not specified	GUncertain significance
Select item 3062720	GRCh37/hg19 3q26.32(chr3:176654197-176884880)x3	TBL1XR1	Copy number gain	not specified	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 3015648	NM_024665.7(TBL1XR1):c.766+17C>T	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (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 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 2975280	NM_024665.7(TBL1XR1):c.780C>T (p.Ser260=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome +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 2920058	NM_024665.7(TBL1XR1):c.732C>T (p.Ser244=)	TBL1XR1, TBL1XR1-AS1	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 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 2854416	NM_024665.7(TBL1XR1):c.830_831del (p.Lys277fs)	TBL1XR1, TBL1XR1-AS1 (K190fs +1 more)	Deletion (frameshift variant)	Pierpont syndrome	GPathogenic
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 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 2795716	NM_024665.7(TBL1XR1):c.1048-7T>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
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 2785014	NM_024665.7(TBL1XR1):c.1122+5T>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
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 2760511	NM_024665.7(TBL1XR1):c.776_780dup (p.Thr261fs)	TBL1XR1, TBL1XR1-AS1 (T174fs +1 more)	Duplication (frameshift variant)	Pierpont syndrome	GPathogenic
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 2685941	GRCh37/hg19 3q26.32(chr3:176645435-177088332)x3	TBL1XR1	Copy number gain	not provided	GUncertain significance
Select item 2685940	GRCh37/hg19 3q26.32(chr3:176627095-176791020)x3	TBL1XR1	Copy number gain	not provided	GUncertain significance
Select item 2685097	GRCh37/hg19 3q26.32(chr3:176670986-176807882)x1	TBL1XR1	Copy number loss	not provided	GPathogenic
Select item 2654284	NM_024665.7(TBL1XR1):c.1122+290GATG[8]	LOC126806878, TBL1XR1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 2627906	NM_024665.7(TBL1XR1):c.1106A>G (p.Asp369Gly)	LOC126806878, TBL1XR1 +1 more (D282G +1 more)	Single nucleotide variant (missense variant)	TBL1XR1-related neurodevelopmental disorder	GLikely pathogenic
Select item 2581100	NM_024665.7(TBL1XR1):c.420dup (p.Ile141fs)	TBL1XR1 (I141fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 41 +1 more	GPathogenic
Select item 2578384	GRCh37/hg19 3q26.32(chr3:176755939-176756243)x1	TBL1XR1	Copy number loss	Intellectual disability, autosomal dominant 41 +1 more	Gnot provided
Select item 2572833	NM_024665.7(TBL1XR1):c.724A>C (p.Thr242Pro)	TBL1XR1, TBL1XR1-AS1 (T155P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2571629	NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys)	TBL1XR1, TBL1XR1-AS1 (F183C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GLikely pathogenic
Select item 2505081	GRCh37/hg19 3q26.32(chr3:176045735-177376007)x3	TBL1XR1	Copy number gain	not provided	Gnot provided
Select item 2500267	NM_024665.7(TBL1XR1):c.1047+1G>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (splice donor variant)	Pierpont syndrome	GPathogenic
Select item 2498942	NM_024665.7(TBL1XR1):c.847A>C (p.Ser283Arg)	TBL1XR1, TBL1XR1-AS1 (S196R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2443985	NM_024665.7(TBL1XR1):c.697T>A (p.Trp233Arg)	TBL1XR1 (W146R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GPathogenic
Select item 2441990	NM_024665.7(TBL1XR1):c.956ACA[1] (p.Asn320del)	LOC126806878, TBL1XR1 +1 more (N233del +1 more)	Microsatellite (non-coding transcript variant +1 more)	Pierpont syndrome	GUncertain significance
Select item 2436981	NM_024665.7(TBL1XR1):c.871A>G (p.Ile291Val)	TBL1XR1, TBL1XR1-AS1 (I204V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436980	NM_024665.7(TBL1XR1):c.638A>G (p.His213Arg)	TBL1XR1 (H126R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2184798	NM_024665.7(TBL1XR1):c.846A>G (p.Leu282=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	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 2160917	NM_024665.7(TBL1XR1):c.1047+5G>T	TBL1XR1-AS1, LOC126806878 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GUncertain significance
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 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 2124657	NM_024665.7(TBL1XR1):c.766+9A>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 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 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 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 2088376	NM_024665.7(TBL1XR1):c.1122+12A>G	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron 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 2078456	NM_024665.7(TBL1XR1):c.864+7del	TBL1XR1, TBL1XR1-AS1	Deletion (intron variant)	Pierpont syndrome	GLikely benign
Select item 2075108	NM_024665.7(TBL1XR1):c.1107C>T (p.Asp369=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Pierpont syndrome +1 more	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 2034140	NM_024665.7(TBL1XR1):c.703-4G>A	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (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 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 2010324	NM_024665.7(TBL1XR1):c.865-6T>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
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 1979184	NM_024665.7(TBL1XR1):c.714A>C (p.Thr238=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
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 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 1926573	NM_024665.7(TBL1XR1):c.718C>T (p.Leu240=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous 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 1805580	NM_024665.7(TBL1XR1):c.1007T>C (p.Leu336Ser)	LOC126806878, TBL1XR1 +1 more (L249S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GUncertain significance
Select item 1760840	NM_024665.7(TBL1XR1):c.783C>G (p.Thr261=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1723667	NM_024665.7(TBL1XR1):c.1108G>C (p.Asp370His)	LOC126806878, TBL1XR1 +1 more (D283H +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1708492	NM_024665.7(TBL1XR1):c.937G>A (p.Asp313Asn)	LOC126806878, TBL1XR1 +1 more (D226N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pierpont syndrome +1 more	GLikely pathogenic
Select item 1699151	NM_024665.7(TBL1XR1):c.970T>G (p.Ser324Ala)	LOC126806878, TBL1XR1 +1 more (S237A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, autosomal dominant 41	GConflicting classifications of pathogenicity
Select item 1695899	GRCh37/hg19 3q26.32(chr3:176619468-176888817)x3	TBL1XR1	Copy number gain	not provided	Gnot provided
Select item 1679792	NM_024665.7(TBL1XR1):c.756G>T (p.Trp252Cys)	TBL1XR1, TBL1XR1-AS1 (W165C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GUncertain significance
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 1624600	NM_024665.7(TBL1XR1):c.926-20T>C	LOC126806878, TBL1XR1 +1 more	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 1609480	NM_024665.7(TBL1XR1):c.1122+15A>T	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 1600409	NM_024665.7(TBL1XR1):c.865-20del	TBL1XR1, TBL1XR1-AS1	Deletion (intron variant)	Pierpont syndrome	GBenign
Select item 1599984	NM_024665.7(TBL1XR1):c.865-19C>T	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	Pierpont syndrome	GBenign
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 1578648	NM_024665.7(TBL1XR1):c.925+7T>C	TBL1XR1, TBL1XR1-AS1	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 1549947	NM_024665.7(TBL1XR1):c.865-18T>G	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron 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 1546464	NM_024665.7(TBL1XR1):c.714A>T (p.Thr238=)	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (synonymous variant)	Pierpont syndrome	GLikely benign
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 1542928	NM_024665.7(TBL1XR1):c.1122+13G>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	Pierpont syndrome	GLikely benign
Select item 1535265	NM_024665.7(TBL1XR1):c.933A>G (p.Ala311=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 1527057	GRCh37/hg19 3q26.32(chr3:176854043-176941772)x1	TBL1XR1	Copy number loss	not specified	GUncertain significance
Select item 1527056	GRCh37/hg19 3q26.32(chr3:176525039-176868565)	TBL1XR1	Copy number gain	not specified	GUncertain significance
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 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 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 1400681	NM_024665.7(TBL1XR1):c.819A>G (p.Lys273=)	TBL1XR1, TBL1XR1-AS1	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 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 1343406	NM_024665.7(TBL1XR1):c.851C>G (p.Ala284Gly)	TBL1XR1, TBL1XR1-AS1 (A197G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	Gnot provided

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