TLCD5[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +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	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	ABCG4, ACRV1 +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	LOC130007028, LOC130007029 +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 2532578	NM_001198671.2(TLCD5):c.-1-7A>G	TLCD5 (H20R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177771	NM_001198671.2(TLCD5):c.59A>G (p.Tyr20Cys)	TLCD5 (Y20C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177772	NM_001198671.2(TLCD5):c.65C>A (p.Ser22Tyr)	TLCD5 (S22Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177773	NM_001198671.2(TLCD5):c.94T>C (p.Tyr32His)	TLCD5 (Y54H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177774	NM_001198671.2(TLCD5):c.139T>C (p.Ser47Pro)	TLCD5 (S47P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177775	NM_001198671.2(TLCD5):c.161T>C (p.Ile54Thr)	TLCD5 (I76T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3177776	NM_001198671.2(TLCD5):c.209A>G (p.Asn70Ser)	TLCD5 (N92S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177777	NM_001198671.2(TLCD5):c.212C>T (p.Thr71Ile)	TLCD5 (T93I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177778	NM_001198671.2(TLCD5):c.227A>G (p.His76Arg)	TLCD5 (H76R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177779	NM_001198671.2(TLCD5):c.277G>A (p.Val93Ile)	TLCD5 (V93I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3177780	NM_001198671.2(TLCD5):c.410A>G (p.Asn137Ser)	TLCD5 (N137S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460832	NM_001198671.2(TLCD5):c.428G>A (p.Arg143His)	TLCD5 (R42H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177781	NM_001198671.2(TLCD5):c.439C>T (p.Arg147Trp)	TLCD5 (R46W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177782	NM_001198671.2(TLCD5):c.455A>G (p.Tyr152Cys)	TLCD5 (Y51C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177783	NM_001198671.2(TLCD5):c.494T>A (p.Val165Glu)	TLCD5 (V165E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519266	NM_001198671.2(TLCD5):c.529G>A (p.Ala177Thr)	TLCD5 (A199T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177784	NM_001198671.2(TLCD5):c.543C>A (p.Phe181Leu)	TLCD5 (F181L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600425	NM_001198671.2(TLCD5):c.560C>T (p.Pro187Leu)	TLCD5 (P187L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472658	NM_001198671.2(TLCD5):c.637C>T (p.Arg213Cys)	TLCD5 (R235C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177785	NM_001198671.2(TLCD5):c.701G>A (p.Arg234Gln)	TLCD5 (R234Q +4 more)	Single nucleotide variant (missense variant)	not specified	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 2684657	GRCh37/hg19 11q23.3-24.1(chr11:119688645-122861792)x3	ARHGEF12, BLID +16 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2425667	NC_000011.9:g.(?_120130513)_(121500272_?)del	ARHGEF12, GRIK4 +6 more	Deletion	not provided	GUncertain significance
Select item 2425350	NC_000011.9:g.(?_119103138)_(121060609_?)dup	NECTIN1, TLCD5 +14 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Inflammatory bowel disease 28 +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	DDX6, DPAGT1 +73 more	Duplication	not provided	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 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 812956	Single allele	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +160 more	Copy number gain	not provided	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +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 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	APOC3, TBCEL +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	MSANTD2, NCAPD3 +177 more	Copy number gain	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 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	FXYD2, POU2F3 +72 more	Copy number gain	See cases	GPathogenic
Select item 221483	GRCh37/hg19 11q23.3(chr11:120169037-120308055)x3	ARHGEF12, POU2F3 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 58