"GeneDx"[submitter] AND "IFT80"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 343960	NM_020800.3(IFT80):c.*42G>A	IFT80, TRIM59-IFT80	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 215529	NM_020800.3(IFT80):c.2224-10dup	IFT80, TRIM59-IFT80	Duplication (intron variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 215528	NM_020800.3(IFT80):c.2224-10del	IFT80, TRIM59-IFT80	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 991	NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro)	IFT80, TRIM59-IFT80 (A701P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1237322	NM_020800.3(IFT80):c.2099+149A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304169	NM_020800.3(IFT80):c.1936G>C (p.Val646Leu)	IFT80, TRIM59-IFT80 (V509L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 343965	NM_020800.3(IFT80):c.1926+13T>C	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 194779	NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln)	IFT80, TRIM59-IFT80 (R628Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1279652	NM_020800.3(IFT80):c.1836+123del	IFT80, TRIM59-IFT80	Deletion (intron variant)	not provided	GBenign
Select item 343966	NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser)	IFT80, TRIM59-IFT80 (T586S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign
Select item 429428	NM_020800.3(IFT80):c.1646_1648del (p.Leu549del)	IFT80, TRIM59-IFT80 (L549del +1 more)	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 390611	NM_020800.3(IFT80):c.1406A>G (p.Asp469Gly)	IFT80, TRIM59-IFT80 (D469G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Asphyxiating thoracic dystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 1183880	NM_020800.3(IFT80):c.1380+144C>T	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245381	NM_020800.3(IFT80):c.1316-21A>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226453	NM_020800.3(IFT80):c.1315+29C>G	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1343891	NM_020800.3(IFT80):c.1315del (p.Lys438_Ile439insTer)	IFT80, TRIM59-IFT80	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1257075	NM_020800.3(IFT80):c.1151+22C>T	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 343971	NM_020800.3(IFT80):c.1126G>C (p.Val376Leu)	IFT80, TRIM59-IFT80 (V376L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1258368	NM_020800.3(IFT80):c.1076+213C>T	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249011	NM_020800.3(IFT80):c.1076+164G>A	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1445660	NM_020800.3(IFT80):c.962G>A (p.Arg321His)	IFT80, TRIM59-IFT80 (R184H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1286523	NM_020800.3(IFT80):c.958-63C>T	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 373566	NM_020800.3(IFT80):c.869dup (p.Asn290fs)	IFT80, TRIM59-IFT80 (N290fs +1 more)	Duplication (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 202194	NM_020800.3(IFT80):c.869A>G (p.Asn290Ser)	IFT80, TRIM59-IFT80 (N290S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1294765	NM_020800.3(IFT80):c.778-177C>T	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288014	NM_020800.3(IFT80):c.639+171C>T	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260215	NM_020800.3(IFT80):c.370+231C>T	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294760	NM_020800.3(IFT80):c.370+198C>A	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1046002	NM_020800.3(IFT80):c.192G>T (p.Trp64Cys)	IFT80, TRIM59-IFT80 (W64C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GUncertain significance
Select item 1270432	NM_020800.3(IFT80):c.38-150dup	IFT80, TRIM59-IFT80	Duplication (intron variant)	not provided	GBenign
Select item 1262945	NM_020800.3(IFT80):c.-46-213T>A	IFT80, TRIM59-IFT80	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 35