TTC36[gene] - ClinVar

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Items: 56

	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 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 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 153712	GRCh38/hg38 11q23.3(chr11:118503581-118554704)x3	IFT46, KMT2A +7 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 2273263	NM_001080441.4(TTC36):c.16G>A (p.Asp6Asn)	TTC36, TTC36-AS1 (D6N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2277059	NM_001080441.4(TTC36):c.19C>G (p.Gln7Glu)	TTC36, TTC36-AS1 (Q7E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2221571	NM_001080441.4(TTC36):c.85G>A (p.Gly29Arg)	TTC36, TTC36-AS1 (G29R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393387	NM_001080441.4(TTC36):c.88G>A (p.Glu30Lys)	TTC36, TTC36-AS1 (E30K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354143	NM_001080441.4(TTC36):c.101A>C (p.Lys34Thr)	TTC36, TTC36-AS1 (K34T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184330	NM_001080441.4(TTC36):c.119A>T (p.Asp40Val)	TTC36, TTC36-AS1 (D40V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226045	NM_001080441.4(TTC36):c.152C>T (p.Ser51Phe)	TTC36, TTC36-AS1 (S51F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184331	NM_001080441.4(TTC36):c.172G>C (p.Gly58Arg)	TTC36, TTC36-AS1 (G58R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270539	NM_001080441.4(TTC36):c.214G>A (p.Glu72Lys)	TTC36, TTC36-AS1 (E13K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528202	NM_001080441.4(TTC36):c.284G>A (p.Arg95Gln)	TTC36, TTC36-AS1 (R95Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184332	NM_001080441.4(TTC36):c.311C>T (p.Ala104Val)	LOC130006846, TTC36 +1 more (A104V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3184334	NM_001080441.4(TTC36):c.352C>T (p.Arg118Trp)	LOC130006846, TTC36 +1 more (R59W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528135	NM_001080441.4(TTC36):c.353G>T (p.Arg118Leu)	LOC130006846, TTC36 +1 more (R118L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3184335	NM_001080441.4(TTC36):c.424G>A (p.Ala142Thr)	TTC36, TTC36-AS1 (A142T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2325818	NM_001080441.4(TTC36):c.473G>A (p.Arg158Gln)	TTC36, TTC36-AS1 (R158Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397921	NM_001080441.4(TTC36):c.518G>T (p.Arg173Leu)	TTC36, TTC36-AS1 (R81L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396708	NM_001080441.4(TTC36):c.556C>T (p.Arg186Cys)	LOC130006847, TTC36 +1 more (R94C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	ABCG4, ARCN1 +36 more	Duplication	Atrial fibrillation, familial, 14	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 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2578672	GRCh37/hg19 11q23.3(chr11:118373113-118430576)x3	IFT46, KMT2A +2 more	Copy number gain	not provided	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410325	NC_000011.9:g.(?_118390313)_(118550336_?)del	ARCN1, IFT46 +5 more	Deletion	not provided	GUncertain significance
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	RNF26, TAGLN +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 1007237	NC_000011.9:g.(?_117856768)_(118972385_?)dup	ARCN1, ATP5MG +31 more	Duplication	Inflammatory bowel disease 28 +4 more	GUncertain significance
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831101	NC_000011.9:g.(?_117856768)_(118972385_?)del	ARCN1, ATP5MG +31 more	Deletion	Combined immunodeficiency due to CD3gamma deficiency +3 more	GPathogenic
Select item 815474	GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3	ABCG4, ARCN1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 684914	GRCh37/hg19 11q23.3(chr11:118374527-118425419)x3	IFT46, KMT2A +2 more	Copy number gain	not provided	GUncertain significance
Select item 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	DDX6, DPAGT1 +36 more	Deletion	Long QT syndrome 10	GUncertain significance
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 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	ABCG4, APOA1 +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 443527	GRCh37/hg19 11q23.3(chr11:118375009-118434226)x3	IFT46, KMT2A +2 more	Copy number gain	See cases	GUncertain significance
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 395456	GRCh37/hg19 11q23.3(chr11:118374043-118422564)x3	IFT46, KMT2A +2 more	Copy number gain	See cases	GLikely benign
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic

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Items: 56