"PreventionGenetics, part of Exact Sciences"[submitter] AND "IFT27"[ge - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1152834	NM_001177701.3(IFT27):c.547C>T (p.Arg183Trp)	IFT27, CACNG2-DT (R182W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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)	IFT27-related disorder +1 more	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)	IFT27-related disorder +2 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 +1 more	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)	IFT27-related disorder +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)	IFT27-related disorder +1 more	GLikely benign
Select item 962878	NM_001177701.3(IFT27):c.465A>G (p.Lys155=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	IFT27-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1077746	NM_001177701.3(IFT27):c.459C>T (p.Ser153=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	IFT27-related disorder +1 more	GLikely benign
Select item 1899534	NM_001177701.3(IFT27):c.429G>A (p.Leu143=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	IFT27-related disorder +1 more	GLikely benign
Select item 1478863	NM_001177701.3(IFT27):c.416G>A (p.Arg139Gln)	IFT27, CACNG2-DT (R139Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 833782	NM_001177701.3(IFT27):c.385G>A (p.Gly129Ser)	CACNG2-DT, IFT27 (G128S +1 more)	Single nucleotide variant (missense variant)	IFT27-related disorder +2 more	GLikely benign
Select item 1092552	NM_001177701.3(IFT27):c.352+7G>A	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	IFT27-related disorder +1 more	GLikely benign
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 840668	NM_001177701.3(IFT27):c.322C>T (p.Arg108Trp)	CACNG2-DT, IFT27 (R108W +1 more)	Single nucleotide variant (missense variant)	IFT27-related disorder +1 more	GLikely benign
Select item 749725	NM_001177701.3(IFT27):c.319G>A (p.Ala107Thr)	IFT27, CACNG2-DT (A107T +1 more)	Single nucleotide variant (missense variant)	IFT27-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 942798	NM_001177701.3(IFT27):c.262G>A (p.Val88Ile)	CACNG2-DT, IFT27 (V87I +1 more)	Single nucleotide variant (missense variant)	IFT27-related disorder +1 more	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 +1 more	GUncertain significance
Select item 2913369	NM_001177701.3(IFT27):c.216G>A (p.Ser72=)	CACNG2-DT, IFT27 +1 more	Single nucleotide variant (synonymous variant)	IFT27-related disorder +1 more	GLikely benign
Select item 1902941	NM_001177701.3(IFT27):c.199G>A (p.Gly67Ser)	CACNG2-DT, IFT27 +1 more (G67S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 789909	NM_001177701.3(IFT27):c.162G>A (p.Thr54=)	IFT27	Single nucleotide variant (synonymous variant)	IFT27-related disorder +1 more	GLikely benign
Select item 862719	NM_001177701.3(IFT27):c.157G>A (p.Asp53Asn)	IFT27 (D53N +1 more)	Single nucleotide variant (missense variant)	IFT27-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1138890	NM_001177701.3(IFT27):c.115-6C>T	IFT27	Single nucleotide variant (intron variant)	IFT27-related disorder +1 more	GLikely benign
Select item 950123	NM_001177701.3(IFT27):c.77G>A (p.Arg26His)	IFT27 (R26H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3060637	NM_001177701.3(IFT27):c.-1C>T	IFT27, LOC130067336	Single nucleotide variant (5 prime UTR variant +1 more)	IFT27-related disorder	GLikely benign
Select item 3044156	NM_001177701.3(IFT27):c.-6G>A	IFT27, LOC130067336	Single nucleotide variant (5 prime UTR variant +1 more)	IFT27-related disorder	GBenign

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Items: 26