IFT27[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 3045969	NM_001177701.3(IFT27):c.*2G>A	CACNG2-DT, IFT27	Single nucleotide variant (3 prime UTR variant)	IFT27-related disorder	GLikely benign
Select item 2970018	NM_001177701.3(IFT27):c.558A>G (p.Ala186=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614296	NM_001177701.3(IFT27):c.558A>C (p.Ala186=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1504143	NM_001177701.3(IFT27):c.557C>A (p.Ala186Glu)	CACNG2-DT, IFT27 (A185E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015709	NM_001177701.3(IFT27):c.551C>G (p.Ala184Gly)	CACNG2-DT, IFT27 (A183G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961819	NM_001177701.3(IFT27):c.548G>A (p.Arg183Gln)	CACNG2-DT, IFT27 (R182Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1152834	NM_001177701.3(IFT27):c.547C>T (p.Arg183Trp)	CACNG2-DT, IFT27 (R182W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1489149	NM_001177701.3(IFT27):c.527G>A (p.Arg176Gln)	CACNG2-DT, IFT27 (R175Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463518	NM_001177701.3(IFT27):c.526C>T (p.Arg176Trp)	CACNG2-DT, IFT27 (R175W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1125415	NM_001177701.3(IFT27):c.522G>A (p.Leu174=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434370	NM_001177701.3(IFT27):c.510G>A (p.Gln170=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1055587	NM_001177701.3(IFT27):c.509A>T (p.Gln170Leu)	CACNG2-DT, IFT27 (Q169L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 841662	NM_001177701.3(IFT27):c.503C>T (p.Ala168Val)	IFT27, CACNG2-DT (A167V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1954598	NM_001177701.3(IFT27):c.498C>A (p.Cys166Ter)	CACNG2-DT, IFT27 (C165* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 939760	NM_001177701.3(IFT27):c.487C>T (p.Pro163Ser)	CACNG2-DT, IFT27 (P162S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1148770	NM_001177701.3(IFT27):c.481G>A (p.Glu161Lys)	CACNG2-DT, IFT27 (E160K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1102709	NM_001177701.3(IFT27):c.480C>T (p.Phe160=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3347332	NM_001177701.3(IFT27):c.476del (p.Asn159fs)	CACNG2-DT, IFT27 (N158fs +1 more)	Deletion (frameshift variant)	IFT27-related disorder	GUncertain significance
Select item 853558	NM_001177701.3(IFT27):c.466G>T (p.Glu156Ter)	CACNG2-DT, IFT27 (E156* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 962878	NM_001177701.3(IFT27):c.465A>G (p.Lys155=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1533324	NM_001177701.3(IFT27):c.463-18_463-11del	CACNG2-DT, IFT27	Deletion (intron variant)	not provided	GLikely benign
Select item 2011180	NM_001177701.3(IFT27):c.463-13A>C	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909996	NM_001177701.3(IFT27):c.462+15T>C	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605395	NM_001177701.3(IFT27):c.462+14C>T	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3358325	NM_001177701.3(IFT27):c.462+7A>G	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	IFT27-related disorder	GLikely benign
Select item 857948	NM_001177701.3(IFT27):c.460G>A (p.Val154Met)	CACNG2-DT, IFT27 (V153M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1077746	NM_001177701.3(IFT27):c.459C>T (p.Ser153=)	IFT27, CACNG2-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 938257	NM_001177701.3(IFT27):c.452A>G (p.Glu151Gly)	CACNG2-DT, IFT27 (E150G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3354551	NM_001177701.3(IFT27):c.450T>C (p.Phe150=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	IFT27-related disorder	GLikely benign
Select item 2126063	NM_001177701.3(IFT27):c.441G>T (p.Leu147=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899534	NM_001177701.3(IFT27):c.429G>A (p.Leu143=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490032	NM_001177701.3(IFT27):c.428T>C (p.Leu143Pro)	CACNG2-DT, IFT27 (L142P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166636	NM_001177701.3(IFT27):c.426G>A (p.Ala142=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786380	NM_001177701.3(IFT27):c.425C>T (p.Ala142Val)	CACNG2-DT, IFT27 (A141V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3346494	NM_001177701.3(IFT27):c.419C>T (p.Ala140Val)	CACNG2-DT, IFT27 (A139V +1 more)	Single nucleotide variant (missense variant)	IFT27-related disorder	GUncertain significance
Select item 1478863	NM_001177701.3(IFT27):c.416G>A (p.Arg139Gln)	CACNG2-DT, IFT27 (R139Q +1 more)	Single nucleotide variant (missense variant)	IFT27-related disorder +1 more	GUncertain significance
Select item 1462480	NM_001177701.3(IFT27):c.415C>G (p.Arg139Gly)	CACNG2-DT, IFT27 (R138G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377288	NM_001177701.3(IFT27):c.415C>T (p.Arg139Trp)	CACNG2-DT, IFT27 (R139W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1069785	NM_001177701.3(IFT27):c.404C>G (p.Ser135Ter)	CACNG2-DT, IFT27 (S134* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1431276	NM_001177701.3(IFT27):c.402C>G (p.Asp134Glu)	CACNG2-DT, IFT27 (D133E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424705	NM_001177701.3(IFT27):c.400G>A (p.Asp134Asn)	CACNG2-DT, IFT27 (D133N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976431	NM_001177701.3(IFT27):c.398T>C (p.Val133Ala)	CACNG2-DT, IFT27 (V132A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992654	NM_001177701.3(IFT27):c.397G>T (p.Val133Leu)	CACNG2-DT, IFT27 (V133L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387499	NM_001177701.3(IFT27):c.395C>T (p.Ala132Val)	CACNG2-DT, IFT27 (A131V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1454073	NM_001177701.3(IFT27):c.391C>T (p.Arg131Ter)	CACNG2-DT, IFT27 (R130* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 833782	NM_001177701.3(IFT27):c.385G>A (p.Gly129Ser)	CACNG2-DT, IFT27 (G128S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 782352	NM_001177701.3(IFT27):c.384C>T (p.Ala128=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2000818	NM_001177701.3(IFT27):c.378C>T (p.Asp126=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528691	NM_001177701.3(IFT27):c.362T>C (p.Val121Ala)	CACNG2-DT, IFT27 (V121A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 955725	NM_001177701.3(IFT27):c.359T>C (p.Leu120Ser)	CACNG2-DT, IFT27 (L119S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558919	NM_001177701.3(IFT27):c.353-9T>C	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1092552	NM_001177701.3(IFT27):c.352+7G>A	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 852436	NM_001177701.3(IFT27):c.352+5G>A	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1155667	NM_001177701.3(IFT27):c.352+4C>T	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1425666	NM_001177701.3(IFT27):c.352+3A>G	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 585274	NM_001177701.3(IFT27):c.352+1G>T	CACNG2-DT, IFT27	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1412269	NM_001177701.3(IFT27):c.344C>G (p.Ser115Cys)	CACNG2-DT, IFT27 (S115C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357157	NM_001177701.3(IFT27):c.339C>G (p.Gly113=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	IFT27-related disorder	GLikely benign
Select item 850334	NM_001177701.3(IFT27):c.334C>G (p.Pro112Ala)	CACNG2-DT, IFT27 (P111A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1654674	NM_001177701.3(IFT27):c.333T>A (p.Ala111=)	IFT27, CACNG2-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1554378	NM_001177701.3(IFT27):c.324G>A (p.Arg108=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1058800	NM_001177701.3(IFT27):c.323G>A (p.Arg108Gln)	CACNG2-DT, IFT27 (R107Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354017	NM_001177701.3(IFT27):c.322C>G (p.Arg108Gly)	IFT27, CACNG2-DT (R107G +1 more)	Single nucleotide variant (missense variant)	IFT27-related disorder	GUncertain significance
Select item 840668	NM_001177701.3(IFT27):c.322C>T (p.Arg108Trp)	CACNG2-DT, IFT27 (R108W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 749725	NM_001177701.3(IFT27):c.319G>A (p.Ala107Thr)	CACNG2-DT, IFT27 (A107T +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2653110	NM_001177701.3(IFT27):c.315G>A (p.Glu105=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474707	NM_001177701.3(IFT27):c.304A>G (p.Lys102Glu)	CACNG2-DT, IFT27 (K101E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 140462	NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr)	IFT27, CACNG2-DT (C99Y +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 19	GPathogenic
Select item 2049743	NM_001177701.3(IFT27):c.297C>T (p.Asn99=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3354112	NM_001177701.3(IFT27):c.278A>G (p.Asn93Ser)	CACNG2-DT, IFT27 (N92S +1 more)	Single nucleotide variant (missense variant)	IFT27-related disorder	GUncertain significance
Select item 1534415	NM_001177701.3(IFT27):c.276C>T (p.Thr92=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110976	NM_001177701.3(IFT27):c.275C>T (p.Thr92Ile)	CACNG2-DT, IFT27 (T92I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502467	NM_001177701.3(IFT27):c.271G>A (p.Val91Met)	CACNG2-DT, IFT27 (V90M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 942798	NM_001177701.3(IFT27):c.262G>A (p.Val88Ile)	CACNG2-DT, IFT27 (V87I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354880	NM_001177701.3(IFT27):c.261C>G (p.Leu87=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	IFT27-related disorder	GLikely benign
Select item 1670077	NM_001177701.3(IFT27):c.261C>T (p.Leu87=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005057	NM_001177701.3(IFT27):c.256T>C (p.Cys86Arg)	CACNG2-DT, IFT27 (C85R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025802	NM_001177701.3(IFT27):c.250G>T (p.Val84Phe)	CACNG2-DT, IFT27 (V83F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1057435	NM_001177701.3(IFT27):c.248A>G (p.Asn83Ser)	CACNG2-DT, IFT27 (N82S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523595	NM_001177701.3(IFT27):c.247A>G (p.Asn83Asp)	CACNG2-DT, IFT27 (N83D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026719	NM_001177701.3(IFT27):c.245C>T (p.Pro82Leu)	CACNG2-DT, IFT27 (P81L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039407	NM_001177701.3(IFT27):c.235-8T>A	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2099593	NM_001177701.3(IFT27):c.235-9C>T	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164198	NM_001177701.3(IFT27):c.235-15G>A	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2039410	NM_001177701.3(IFT27):c.235-18C>A	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671240	NM_001177701.3(IFT27):c.234+12G>C	CACNG2-DT, IFT27 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1118951	NM_001177701.3(IFT27):c.234+12G>A	CACNG2-DT, IFT27 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649626	NM_001177701.3(IFT27):c.234+11C>T	CACNG2-DT, IFT27 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023420	NM_001177701.3(IFT27):c.234+3A>C	CACNG2-DT, IFT27 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 591265	NM_001177701.3(IFT27):c.234+1G>A	LOC126863139, IFT27 +1 more	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1943545	NM_001177701.3(IFT27):c.232T>C (p.Leu78=)	CACNG2-DT, IFT27 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915709	NM_001177701.3(IFT27):c.227A>G (p.Asp76Gly)	CACNG2-DT, IFT27 +1 more (D75G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2241764	NM_001177701.3(IFT27):c.226G>T (p.Asp76Tyr)	CACNG2-DT, IFT27 +1 more (D75Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2913369	NM_001177701.3(IFT27):c.216G>A (p.Ser72=)	CACNG2-DT, IFT27 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872196	NM_001177701.3(IFT27):c.210G>C (p.Leu70=)	CACNG2-DT, IFT27 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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