IFT46[gene] - ClinVar

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Items: 63

	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 3108401	NM_001168618.2(IFT46):c.904A>G (p.Thr302Ala)	IFT46, TMEM25 (T353A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326049	NM_001168618.2(IFT46):c.869A>G (p.Asn290Ser)	IFT46, TMEM25 (N290S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285431	NM_001168618.2(IFT46):c.860C>T (p.Pro287Leu)	IFT46, TMEM25 (P287L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531720	NM_001168618.2(IFT46):c.807C>G (p.Phe269Leu)	IFT46, TMEM25 (F269L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405435	NM_001168618.2(IFT46):c.764G>A (p.Arg255Gln)	IFT46, TMEM25 (R255Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528901	NM_001168618.2(IFT46):c.724A>G (p.Met242Val)	IFT46, TMEM25 (M242V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459243	NM_001168618.2(IFT46):c.709G>A (p.Ala237Thr)	IFT46, TMEM25 (A237T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361321	NM_001168618.2(IFT46):c.647C>T (p.Pro216Leu)	IFT46 (P216L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397324	NM_001168618.2(IFT46):c.569A>G (p.His190Arg)	IFT46 (H190R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219627	NM_001168618.2(IFT46):c.542C>T (p.Thr181Met)	IFT46 (T181M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357473	NM_001168618.2(IFT46):c.308T>G (p.Ile103Ser)	IFT46 (I103S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642438	NM_001168618.2(IFT46):c.301C>G (p.Pro101Ala)	IFT46 (P101A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2338386	NM_001168618.2(IFT46):c.257G>A (p.Ser86Asn)	IFT46 (S86N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251488	NM_001168618.2(IFT46):c.191A>G (p.Tyr64Cys)	IFT46 (Y64C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108402	NM_001168618.2(IFT46):c.73C>A (p.Pro25Thr)	IFT46 (P76T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715027	NM_001168618.2(IFT46):c.46-4A>G	IFT46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2288684	NM_001168618.2(IFT46):c.46-787T>A	IFT46 (V35D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1257685	NC_000011.10:g.118572359dup	ARCN1, IFT46	Duplication	not provided	GBenign
Select item 1229114	NC_000011.10:g.118572348G>C	ARCN1, IFT46	Single nucleotide variant	not provided	GBenign
Select item 1273616	NC_000011.10:g.118572359del	ARCN1, IFT46	Deletion	not provided	GBenign
Select item 3339875	NM_001655.5(ARCN1):c.-3A>G	ARCN1, IFT46	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 718664	NM_001655.5(ARCN1):c.3+8C>T	ARCN1, IFT46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1965357	NM_001655.5(ARCN1):c.3+9C>A	ARCN1, IFT46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110616	NM_001655.5(ARCN1):c.3+16G>A	ARCN1, IFT46	Single nucleotide variant (intron variant)	not provided	GLikely benign
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	ABCG4, APOA1 +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: 63