IFT57[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	ALCAM, BBX +89 more	Copy number loss	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 150361	GRCh38/hg38 3q13.11-13.13(chr3:106451492-109265496)x1	BBX, C3orf85 +61 more	Copy number loss	See cases	GPathogenic
Select item 2992210	NM_018010.4(IFT57):c.1285del (p.Tyr429fs)	IFT57 (Y429fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2864578	NM_018010.4(IFT57):c.1285T>G (p.Tyr429Asp)	IFT57 (Y429D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973072	NM_018010.4(IFT57):c.1281C>A (p.Gly427=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902973	NM_018010.4(IFT57):c.1274C>T (p.Ala425Val)	IFT57 (A425V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353255	NM_018010.4(IFT57):c.1271C>G (p.Pro424Arg)	IFT57 (P424R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774602	NM_018010.4(IFT57):c.1232A>G (p.Asn411Ser)	IFT57 (N411S)	Single nucleotide variant (missense variant)	IFT57-related condition +1 more	GBenign
Select item 2987443	NM_018010.4(IFT57):c.1209A>G (p.Gln403=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897983	NM_018010.4(IFT57):c.1209A>C (p.Gln403His)	IFT57 (Q403H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870331	NM_018010.4(IFT57):c.1206C>G (p.Leu402=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652906	NM_018010.4(IFT57):c.1197C>T (p.His399=)	IFT57	Single nucleotide variant (synonymous variant)	IFT57-related condition +1 more	GLikely benign
Select item 2820156	NM_018010.4(IFT57):c.1193A>G (p.Glu398Gly)	IFT57 (E398G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873078	NM_018010.4(IFT57):c.1181T>C (p.Ile394Thr)	IFT57 (I394T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548601	NM_018010.4(IFT57):c.1168A>G (p.Met390Val)	IFT57 (M390V)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome 18	GUncertain significance
Select item 1996236	NM_018010.4(IFT57):c.1162G>A (p.Val388Ile)	IFT57 (V388I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720550	NM_018010.4(IFT57):c.1146A>G (p.Lys382=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955652	NM_018010.4(IFT57):c.1139T>C (p.Leu380Ser)	IFT57 (L380S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914979	NM_018010.4(IFT57):c.1134G>C (p.Gln378His)	IFT57 (Q378H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496622	NM_018010.4(IFT57):c.1119G>T (p.Leu373Phe)	IFT57 (L373F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2970546	NM_018010.4(IFT57):c.1112-6C>T	IFT57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1580303	NM_018010.4(IFT57):c.1111+12C>T	IFT57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1471939	NM_018010.4(IFT57):c.1100T>C (p.Met367Thr)	IFT57 (M367T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905006	NM_018010.4(IFT57):c.1099A>C (p.Met367Leu)	IFT57 (M367L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086487	NM_018010.4(IFT57):c.1045-13G>A	IFT57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958336	NM_018010.4(IFT57):c.1044+11A>G	IFT57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1582858	NM_018010.4(IFT57):c.1044+9T>C	IFT57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1672902	NM_018010.4(IFT57):c.1044+7A>G	IFT57	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2616777	NM_018010.4(IFT57):c.1027A>G (p.Thr343Ala)	IFT57 (T343A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767921	NM_018010.4(IFT57):c.1020G>A (p.Thr340=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1350019	NM_018010.4(IFT57):c.1019C>T (p.Thr340Met)	IFT57 (T340M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128414	NM_018010.4(IFT57):c.999G>A (p.Gln333=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1673934	NM_018010.4(IFT57):c.998A>G (p.Gln333Arg)	IFT57 (Q333R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1478681	NM_018010.4(IFT57):c.995A>G (p.Tyr332Cys)	IFT57 (Y332C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407162	NM_018010.4(IFT57):c.992G>A (p.Arg331Gln)	IFT57 (R331Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104576	NM_018010.4(IFT57):c.981+4A>G	IFT57	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1998794	NM_018010.4(IFT57):c.970C>A (p.Gln324Lys)	IFT57 (Q324K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834685	NM_018010.4(IFT57):c.953A>G (p.Tyr318Cys)	IFT57 (Y318C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993199	NM_018010.4(IFT57):c.949G>A (p.Glu317Lys)	IFT57 (E317K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193511	NM_018010.4(IFT57):c.942G>A (p.Leu314=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1611222	NM_018010.4(IFT57):c.930G>A (p.Gln310=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555620	NM_018010.4(IFT57):c.921C>A (p.Ile307=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609930	NM_018010.4(IFT57):c.915G>A (p.Lys305=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444067	NM_018010.4(IFT57):c.914A>T (p.Lys305Met)	IFT57 (K305M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1668020	NM_018010.4(IFT57):c.912A>G (p.Glu304=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108404	NM_018010.4(IFT57):c.900C>A (p.Ile300=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365264	NM_018010.4(IFT57):c.893A>G (p.Glu298Gly)	IFT57 (E298G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1615401	NM_018010.4(IFT57):c.891G>A (p.Leu297=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2271587	NM_018010.4(IFT57):c.877A>G (p.Ile293Val)	IFT57 (I293V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2870605	NM_018010.4(IFT57):c.850-3T>C	IFT57	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2164888	NM_018010.4(IFT57):c.850-10G>T	IFT57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646818	NM_018010.4(IFT57):c.850-16T>G	IFT57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1516005	NM_018010.4(IFT57):c.850-19A>G	IFT57	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2754712	NM_018010.4(IFT57):c.849+14_849+18dup	IFT57	Duplication (intron variant)	not provided	GLikely benign
Select item 2104368	NM_018010.4(IFT57):c.849+19G>T	IFT57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662452	NM_018010.4(IFT57):c.849+19G>A	IFT57	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1640739	NM_018010.4(IFT57):c.849+18C>T	IFT57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2063665	NM_018010.4(IFT57):c.849+10T>C	IFT57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959130	NM_018010.4(IFT57):c.844A>T (p.Thr282Ser)	IFT57 (T282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961153	NM_018010.4(IFT57):c.841G>A (p.Glu281Lys)	IFT57 (E281K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985016	NM_018010.4(IFT57):c.838A>C (p.Lys280Gln)	IFT57 (K280Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873108	NM_018010.4(IFT57):c.834T>C (p.Ala278=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1375061	NM_018010.4(IFT57):c.828A>C (p.Glu276Asp)	IFT57 (E276D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144853	NM_018010.4(IFT57):c.820G>A (p.Gly274Arg)	IFT57 (G274R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1539026	NM_018010.4(IFT57):c.810G>A (p.Gln270=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1346416	NM_018010.4(IFT57):c.783G>A (p.Trp261Ter)	IFT57 (W261*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2117131	NM_018010.4(IFT57):c.779A>C (p.Asp260Ala)	IFT57 (D260A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843977	NM_018010.4(IFT57):c.778-10A>G	IFT57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779185	NM_018010.4(IFT57):c.778-10A>C	IFT57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2704801	NM_018010.4(IFT57):c.778-13T>C	IFT57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1955478	NM_018010.4(IFT57):c.778-18T>A	IFT57	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1937772	NM_018010.4(IFT57):c.777+15del	IFT57	Deletion (intron variant)	not provided	GLikely benign
Select item 1635714	NM_018010.4(IFT57):c.777+15A>G	IFT57	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985930	NM_018010.4(IFT57):c.777+8A>G	IFT57	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2784654	NM_018010.4(IFT57):c.777+3A>G	IFT57	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 506288	NM_018010.4(IFT57):c.777G>A (p.Lys259=)	IFT57	Single nucleotide variant (synonymous variant)	Orofaciodigital syndrome 18	GPathogenic
Select item 1514872	NM_018010.4(IFT57):c.774T>C (p.Asn258=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1493966	NM_018010.4(IFT57):c.773A>G (p.Asn258Ser)	IFT57 (N258S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1551502	NM_018010.4(IFT57):c.768T>C (p.Thr256=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565568	NM_018010.4(IFT57):c.759G>A (p.Thr253=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873983	NM_018010.4(IFT57):c.758C>A (p.Thr253Lys)	IFT57 (T253K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447250	NM_018010.4(IFT57):c.748C>A (p.Leu250Met)	IFT57 (L250M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379129	NM_018010.4(IFT57):c.736G>A (p.Val246Ile)	IFT57 (V246I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138193	NM_018010.4(IFT57):c.733C>T (p.Arg245Cys)	IFT57 (R245C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2654019	NM_018010.4(IFT57):c.723A>G (p.Leu241=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353722	NM_018010.4(IFT57):c.719G>A (p.Ser240Asn)	IFT57 (S240N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800056	NM_018010.4(IFT57):c.713A>C (p.Glu238Ala)	IFT57 (E238A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505159	NM_018010.4(IFT57):c.688_689del (p.Leu230fs)	IFT57 (L230fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2064250	NM_018010.4(IFT57):c.682G>C (p.Asp228His)	IFT57 (D228H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057995	NM_018010.4(IFT57):c.670G>A (p.Ala224Thr)	IFT57 (A224T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505175	NM_018010.4(IFT57):c.664G>A (p.Glu222Lys)	IFT57 (E222K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1591108	NM_018010.4(IFT57):c.663C>T (p.Asn221=)	IFT57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813938	NM_018010.4(IFT57):c.656A>G (p.Asp219Gly)	IFT57 (D219G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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