TBRG1[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	ACRV1, BSX +166 more	Copy number loss	See cases	GPathogenic
Select item 152641	GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3	ESAM, ESAM-AS1 +59 more	Copy number gain	See cases	GUncertain significance
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149014	GRCh38/hg38 11q24.2(chr11:124565941-125095785)x1	CCDC15, ESAM +37 more	Copy number loss	See cases	GUncertain significance
Select item 2206792	NM_032811.3(TBRG1):c.40C>T (p.Pro14Ser)	TBRG1 (P14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620616	NM_032811.3(TBRG1):c.137A>C (p.Lys46Thr)	TBRG1 (K46T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174896	NM_032811.3(TBRG1):c.158C>T (p.Ala53Val)	TBRG1 (A53V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642497	NM_032811.3(TBRG1):c.261T>G (p.Thr87=)	TBRG1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2550425	NM_032811.3(TBRG1):c.314C>T (p.Thr105Ile)	TBRG1 (T105I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394612	NM_032811.3(TBRG1):c.361A>G (p.Ile121Val)	TBRG1 (I121V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337471	NM_032811.3(TBRG1):c.448C>G (p.Leu150Val)	TBRG1 (L150V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174897	NM_032811.3(TBRG1):c.500G>A (p.Arg167His)	TBRG1 (R167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324819	NM_032811.3(TBRG1):c.524T>C (p.Leu175Pro)	TBRG1 (L175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323402	NM_032811.3(TBRG1):c.628G>T (p.Ala210Ser)	TBRG1 (A210S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 996584	NM_032811.3(TBRG1):c.628G>A (p.Ala210Thr)	TBRG1 (A210T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely pathogenic
Select item 3324820	NM_032811.3(TBRG1):c.640G>A (p.Val214Met)	TBRG1 (V214M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378879	NM_032811.3(TBRG1):c.641T>C (p.Val214Ala)	TBRG1 (V214A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174898	NM_032811.3(TBRG1):c.659G>A (p.Arg220Gln)	TBRG1 (R220Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174899	NM_032811.3(TBRG1):c.664T>C (p.Tyr222His)	TBRG1 (Y222H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174900	NM_032811.3(TBRG1):c.733C>A (p.Pro245Thr)	TBRG1 (P245T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384658	NM_032811.3(TBRG1):c.776T>C (p.Ile259Thr)	TBRG1 (I259T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324823	NM_032811.3(TBRG1):c.799T>C (p.Cys267Arg)	TBRG1 (C267R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491994	NM_032811.3(TBRG1):c.808G>A (p.Glu270Lys)	TBRG1 (E270K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174901	NM_032811.3(TBRG1):c.837G>C (p.Met279Ile)	TBRG1 (M279I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528316	NM_032811.3(TBRG1):c.860T>C (p.Leu287Pro)	TBRG1 (L287P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174902	NM_032811.3(TBRG1):c.970G>T (p.Val324Leu)	TBRG1 (V324L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335777	NM_032811.3(TBRG1):c.986A>G (p.Asp329Gly)	TBRG1 (D329G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174903	NM_032811.3(TBRG1):c.998C>T (p.Pro333Leu)	TBRG1 (P333L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324821	NM_032811.3(TBRG1):c.1010C>T (p.Pro337Leu)	TBRG1 (P337L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2600138	NM_032811.3(TBRG1):c.1018G>A (p.Asp340Asn)	TBRG1 (D340N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174893	NM_032811.3(TBRG1):c.1061A>G (p.Asp354Gly)	TBRG1 (D354G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324822	NM_032811.3(TBRG1):c.1068T>A (p.Asp356Glu)	TBRG1 (D356E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174894	NM_032811.3(TBRG1):c.1091G>C (p.Gly364Ala)	TBRG1 (G364A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480831	NM_032811.3(TBRG1):c.1124C>A (p.Ala375Asp)	TBRG1 (A375D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226944	NM_032811.3(TBRG1):c.1144C>T (p.Pro382Ser)	TBRG1 (P382S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281353	NM_032811.3(TBRG1):c.1191C>G (p.His397Gln)	TBRG1 (H397Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174895	NM_032811.3(TBRG1):c.1226C>G (p.Ser409Cys)	TBRG1 (S409C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 993529	NM_032811.3(TBRG1):c.1234T>C (p.Ter412Arg)	TBRG1	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2426317	NC_000011.9:g.(?_123504851)_(126163012_?)del	ACRV1, CCDC15 +56 more	Deletion	not provided	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1375927	NC_000011.9:g.(?_123504851)_(126163012_?)dup	CDON, ACRV1 +56 more	Duplication	Holoprosencephaly 11	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340368	GRCh37/hg19 11q24.2(chr11:124296335-124560100)x3	OR8A1, OR8B12 +5 more	Copy number gain	not provided	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815477	GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1	LINC02743, VSIG2 +74 more	Copy number loss	not provided	GPathogenic
Select item 815475	GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	not provided	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 812909	Single allele	ACAD8, ACRV1 +74 more	Deletion	Paris-Trousseau thrombocytopenia	GPathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 638099	GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563882	GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	ACAD8, ACRV1 +114 more	Copy number loss	not provided	GPathogenic
Select item 563833	GRCh37/hg19 11q24.2(chr11:124296334-124560100)x3	OR8B12, OR8A1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443847	GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	CHEK1, CLMP +95 more	Copy number gain	See cases	GPathogenic
Select item 443289	GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 442908	GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	See cases	GPathogenic
Select item 442155	GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1	ACAD8, ACRV1 +105 more	Copy number loss	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 395037	GRCh37/hg19 11q24.2(chr11:124254553-125315622)x1	CCDC15, ESAM +19 more	Copy number loss	See cases	GPathogenic
Select item 393778	GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1	PATE2, PATE3 +104 more	Copy number loss	See cases	GPathogenic
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic

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Items: 98