TBL2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 58552	GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1	AUTS2, BAZ1B +117 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146545	GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1	BAZ1B, BCL7B +49 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 58217	GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3	ABHD11, ABHD11-AS1 +162 more	Copy number gain	See cases	GPathogenic
Select item 58218	GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3	ABHD11, ABHD11-AS1 +147 more	Copy number gain	See cases	GPathogenic
Select item 57313	GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1	ABHD11, ABHD11-AS1 +141 more	Copy number loss	See cases	GPathogenic
Select item 147066	GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3	ABHD11, ABHD11-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 148663	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GPathogenic
Select item 146414	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GUncertain significance
Select item 59305	GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 153242	GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3	ABHD11, ABHD11-AS1 +132 more	Copy number gain	See cases	GPathogenic
Select item 152064	GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3	ABHD11, ABHD11-AS1 +134 more	Copy number gain	See cases	GPathogenic
Select item 150322	GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1	ABHD11, ABHD11-AS1 +134 more	Copy number loss	See cases	GPathogenic
Select item 149044	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 149043	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3	LOC129998592, LOC129998593 +133 more	Copy number gain	See cases	GPathogenic
Select item 2505469	Single allele	ABHD11, ABHD11-AS1 +132 more	Deletion	Williams syndrome	GPathogenic
Select item 2499666	GRCh38/hg38 7q11.23(chr7:73229597-74727852)	ABHD11, ABHD11-AS1 +131 more	Copy number loss	Williams syndrome	GPathogenic
Select item 3236844	GRCh38/hg38 7q11.23(chr7:73247356-74727974)x3	ABHD11, ABHD11-AS1 +130 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 149310	GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 155323	GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3	LOC129998592, LOC129998593 +129 more	Copy number gain	See cases	GPathogenic
Select item 154347	GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 153973	GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 150236	GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3	ABHD11, ABHD11-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 149309	GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 147170	GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 59315	GRCh38/hg38 7q11.23(chr7:73280574-74723034)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 58238	GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3	ABHD11, ABHD11-AS1 +132 more	Copy number gain	See cases	GPathogenic
Select item 58237	GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 58219	GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 154259	GRCh38/hg38 7q11.23(chr7:73286125-74732517)x3	DNAJC30, EIF4H +129 more	Copy number gain	See cases	GPathogenic
Select item 154824	GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 151986	GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 151015	GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1	ABHD11, ABHD11-AS1 +132 more	Copy number loss	See cases	GPathogenic
Select item 149308	GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59319	GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59318	GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59317	GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 59316	GRCh38/hg38 7q11.23(chr7:73286412-74723034)x1	EIF4H, ELN +129 more	Copy number loss	See cases	GPathogenic
Select item 154080	GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 153978	GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 3252027	NC_000007.14:g.(?_73303398)_(74735532_?)del	ABHD11, ABHD11-AS1 +130 more	Deletion	Williams syndrome	GLikely pathogenic
Select item 144925	GRCh38/hg38 7q11.23(chr7:73304255-74718954)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 2574138	NC_000007.14:g.73304277_74727414del	ABHD11, ABHD11-AS1 +129 more	Deletion	Williams syndrome	GPathogenic
Select item 155565	GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 58239	GRCh38/hg38 7q11.23(chr7:73312575-74723034)x3	ABHD11, ABHD11-AS1 +128 more	Copy number gain	See cases	GPathogenic
Select item 147629	GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1	LOC129998612, LOC129998613 +128 more	Copy number loss	See cases	GPathogenic
Select item 545349	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Schizophrenia	GPathogenic
Select item 545350	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Autism	GPathogenic
Select item 59321	GRCh38/hg38 7q11.23(chr7:73352104-74719154)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59320	GRCh38/hg38 7q11.23(chr7:73352104-74719154)x3	EIF4H, ELN +127 more	Copy number gain	See cases	GPathogenic
Select item 146838	GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1	LOC129998611, LOC129998612 +131 more	Copy number loss	See cases	GPathogenic
Select item 146807	GRCh38/hg38 7q11.23(chr7:73352303-74719008)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 146803	GRCh38/hg38 7q11.23(chr7:73352303-74719008)x3	ABHD11, ABHD11-AS1 +127 more	Copy number gain	See cases	GPathogenic
Select item 146774	GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 160898	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 160823	GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 160822	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3	ABHD11, ABHD11-AS1 +127 more	Copy number gain	See cases	GPathogenic
Select item 154623	GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3	LOC129998621, LOC129998622 +134 more	Copy number gain	See cases	GPathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 57316	GRCh38/hg38 7q11.23(chr7:73352304-74869255)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 33969	GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 32643	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 32380	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3	ABHD11, ABHD11-AS1 +127 more	Copy number gain	See cases	GPathogenic
Select item 3324796	NM_012453.4(TBL2):c.1330G>T (p.Ala444Ser)	TBL2 (A444S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174826	NM_012453.4(TBL2):c.1281G>C (p.Arg427Ser)	TBL2 (R262S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277869	NM_012453.4(TBL2):c.1273C>T (p.Arg425Cys)	TBL2 (R260C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735014	NM_012453.4(TBL2):c.1268G>A (p.Ser423Asn)	TBL2 (S258N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3174825	NM_012453.4(TBL2):c.1252C>T (p.Arg418Trp)	TBL2 (R418W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294985	NM_012453.4(TBL2):c.1232A>G (p.Glu411Gly)	TBL2 (E246G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469324	NM_012453.4(TBL2):c.1190G>A (p.Arg397Gln)	TBL2 (R364Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357025	NM_012453.4(TBL2):c.1184C>T (p.Ala395Val)	TBL2 (A230V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274757	NM_012453.4(TBL2):c.1157G>A (p.Arg386His)	TBL2 (R386H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511369	NM_012453.4(TBL2):c.1109G>A (p.Arg370Gln)	TBL2 (R370Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321415	NM_012453.4(TBL2):c.1079G>C (p.Arg360Pro)	TBL2 (R327P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324795	NM_012453.4(TBL2):c.1022C>G (p.Pro341Arg)	TBL2 (P308R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174823	NM_012453.4(TBL2):c.1016T>C (p.Leu339Pro)	TBL2 (L339P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342966	NM_012453.4(TBL2):c.1007G>A (p.Arg336His)	TBL2 (R336H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732510	NM_012453.4(TBL2):c.1002G>A (p.Pro334=)	TBL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3324792	NM_012453.4(TBL2):c.998C>T (p.Ala333Val)	TBL2 (A168V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771724	NM_012453.4(TBL2):c.996C>T (p.Ala332=)	TBL2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3174835	NM_012453.4(TBL2):c.943A>C (p.Lys315Gln)	TBL2 (K315Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526504	NM_012453.4(TBL2):c.928G>A (p.Val310Met)	TBL2 (V310M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399200	NM_012453.4(TBL2):c.900T>A (p.Asp300Glu)	TBL2 (D135E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025915	NM_012453.4(TBL2):c.879-3C>T	TBL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2590250	NM_012453.4(TBL2):c.875G>A (p.Arg292Gln)	TBL2 (R259Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3174834	NM_012453.4(TBL2):c.838G>A (p.Ala280Thr)	TBL2 (A115T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724587	NM_012453.4(TBL2):c.807G>T (p.Val269=)	TBL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3174833	NM_012453.4(TBL2):c.772G>A (p.Val258Ile)	TBL2 (V225I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732412	NM_012453.4(TBL2):c.770A>C (p.Glu257Ala)	TBL2 (E224A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2247307	NM_012453.4(TBL2):c.733G>T (p.Ala245Ser)	TBL2 (A80S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608860	NM_012453.4(TBL2):c.701A>C (p.His234Pro)	TBL2 (H234P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539379	NM_012453.4(TBL2):c.690G>A (p.Met230Ile)	TBL2 (M230I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774126	NM_012453.4(TBL2):c.687G>A (p.Gln229=)	TBL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2401135	NM_012453.4(TBL2):c.673A>G (p.Ile225Val)	TBL2 (I225V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174831	NM_012453.4(TBL2):c.629C>G (p.Thr210Ser)	TBL2 (T177S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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