TBL1XR1-AS1[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	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 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	LOC129938260, LOC129938261 +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	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +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	LOC112935911, LOC126806878 +4 more	Duplication	Pierpont syndrome	GUncertain significance
Select item 2654284	NM_024665.7(TBL1XR1):c.1122+290GATG[8]	LOC126806878, TBL1XR1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1203786	NM_024665.7(TBL1XR1):c.1122+98T>A	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	not provided	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 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 489289	NM_024665.7(TBL1XR1):c.1122+3A>T	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 432185	NM_024665.7(TBL1XR1):c.1109A>G (p.Asp370Gly)	LOC126806878, TBL1XR1 +1 more (D370G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 372701	NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)	TBL1XR1-AS1, LOC126806878 +1 more (D370N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2075108	NM_024665.7(TBL1XR1):c.1107C>T (p.Asp369=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	TBL1XR1-related disorder +1 more	GLikely benign
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 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 988425	NM_024665.7(TBL1XR1):c.1103C>T (p.Ser368Phe)	LOC126806878, TBL1XR1 +1 more (S281F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 802021	NM_024665.7(TBL1XR1):c.1100G>T (p.Cys367Phe)	LOC126806878, TBL1XR1 +1 more (C280F +1 more)	Single nucleotide variant (missense variant)	Pierpont syndrome	GLikely pathogenic
Select item 3339650	NM_024665.7(TBL1XR1):c.1098C>G (p.Ser366=)	TBL1XR1-AS1, LOC126806878 +1 more	Single nucleotide variant (synonymous variant)	not specified	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 1313399	NM_024665.7(TBL1XR1):c.1048-7T>G	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3339953	NM_024665.7(TBL1XR1):c.1048-15T>G	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (intron variant)	not specified	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 2500267	NM_024665.7(TBL1XR1):c.1047+1G>C	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (splice donor variant)	Pierpont syndrome	GPathogenic
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 666259	NM_024665.7(TBL1XR1):c.1043A>G (p.His348Arg)	LOC126806878, TBL1XR1 +1 more (H261R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41 +1 more	GLikely pathogenic
Select item 1311325	NM_024665.7(TBL1XR1):c.1035C>A (p.Phe345Leu)	LOC126806878, TBL1XR1 +1 more (F258L +1 more)	Single nucleotide variant (missense variant)	not provided	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 983039	NM_024665.7(TBL1XR1):c.1018_1021del (p.Arg340fs)	LOC126806878, TBL1XR1 +1 more (R253fs +1 more)	Microsatellite (frameshift variant)	Pierpont syndrome	GLikely pathogenic
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 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 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 978153	NM_024665.7(TBL1XR1):c.997G>A (p.Val333Ile)	LOC126806878, TBL1XR1 +1 more (V246I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 521292	NM_024665.7(TBL1XR1):c.991A>T (p.Ile331Phe)	LOC126806878, TBL1XR1 +1 more (I331F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 392060	NM_024665.7(TBL1XR1):c.987G>A (p.Met329Ile)	LOC126806878, TBL1XR1 +1 more (M329I +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 431083	NM_024665.7(TBL1XR1):c.977G>T (p.Ser326Ile)	LOC126806878, TBL1XR1 +1 more (S326I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GLikely pathogenic
Select item 976675	NM_024665.7(TBL1XR1):c.973_975dup (p.Cys325dup)	LOC126806878, TBL1XR1 +1 more	Duplication (inframe_insertion)	Intellectual disability, autosomal dominant 41	GLikely pathogenic
Select item 545441	NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr)	LOC126806878, TBL1XR1 +1 more (C325Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GConflicting classifications of pathogenicity
Select item 3257788	NM_024665.7(TBL1XR1):c.968CTT[1] (p.Ser324del)	LOC126806878, TBL1XR1 +1 more (S324del +1 more)	Microsatellite (non-coding transcript variant +1 more)	Neoplasm	OUncertain significance
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 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 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 3340353	NM_024665.7(TBL1XR1):c.953G>A (p.Ser318Asn)	LOC126806878, TBL1XR1 +1 more (S231N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1219740	NM_024665.7(TBL1XR1):c.948G>T (p.Trp316Cys)	LOC126806878, TBL1XR1 +1 more (W229C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426833	NM_024665.7(TBL1XR1):c.947G>C (p.Trp316Ser)	LOC126806878, TBL1XR1 +1 more (W316S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 587849	NM_024665.7(TBL1XR1):c.945T>C (p.Asp315=)	LOC126806878, TBL1XR1 +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 452527	NM_024665.7(TBL1XR1):c.943_945del (p.Asp315del)	LOC126806878, TBL1XR1 +1 more (D315del +1 more)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 452352	NM_024665.7(TBL1XR1):c.941_943del (p.Val314del)	LOC126806878, TBL1XR1 +1 more (V314del +1 more)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
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 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 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 985764	NM_024665.7(TBL1XR1):c.929C>T (p.Pro310Leu)	LOC126806878, TBL1XR1 +1 more (P223L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 546174	NM_024665.7(TBL1XR1):c.926C>T (p.Ala309Val)	LOC126806878, TBL1XR1 +1 more (A309V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1179756	NM_024665.7(TBL1XR1):c.925+170A>G	TBL1XR1, TBL1XR1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216608	NM_024665.7(TBL1XR1):c.925+134_925+135del	TBL1XR1, TBL1XR1-AS1	Deletion (intron variant)	not provided	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 981405	NM_024665.7(TBL1XR1):c.920A>G (p.His307Arg)	TBL1XR1, TBL1XR1-AS1 (H220R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 588753	NM_024665.7(TBL1XR1):c.915T>A (p.Pro305=)	TBL1XR1, TBL1XR1-AS1	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

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