ClinVar for Gene (Select 11020) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3351077	NM_001177701.3(IFT27):c.174+8A>T	IFT27	Single nucleotide variant (intron variant)	IFT27-related disorder	GLikely benign
Select item 3351002	NM_001177701.3(IFT27):c.174+9T>C	IFT27	Single nucleotide variant (intron variant)	IFT27-related disorder	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 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 3108399	NM_001177701.3(IFT27):c.119C>T (p.Thr40Ile)	IFT27 (T40I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3044156	NM_001177701.3(IFT27):c.-6G>A	IFT27, LOC130067336	Single nucleotide variant (5 prime UTR variant +1 more)	IFT27-related disorder	GBenign
Select item 2997971	NM_001177701.3(IFT27):c.161C>T (p.Thr54Met)	IFT27 (T53M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996896	NM_001177701.3(IFT27):c.198T>C (p.Ala66=)	CACNG2-DT, IFT27 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981555	NM_001177701.3(IFT27):c.126_130del (p.Met42fs)	IFT27 (M41fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 2910479	NM_001177701.3(IFT27):c.118_125del (p.Thr40fs)	IFT27 (T39fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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
Select item 2777144	NM_001177701.3(IFT27):c.30G>A (p.Leu10=)	IFT27	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2756211	NM_001177701.3(IFT27):c.200G>T (p.Gly67Val)	CACNG2-DT, IFT27 +1 more (G66V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2536471	NM_001177701.3(IFT27):c.203A>C (p.Lys68Thr)	CACNG2-DT, IFT27 +1 more (K67T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	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 2134906	NM_001177701.3(IFT27):c.174G>C (p.Val58=)	IFT27	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2125746	NM_001177701.3(IFT27):c.35-3C>A	IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2125210	NM_001177701.3(IFT27):c.33A>C (p.Ala11=)	IFT27	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2113358	NM_001177701.3(IFT27):c.5T>C (p.Val2Ala)	IFT27, LOC130067336 (V2A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2111398	NM_001177701.3(IFT27):c.97C>T (p.Gln33Ter)	IFT27 (Q32* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2099593	NM_001177701.3(IFT27):c.235-9C>T	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2073268	NM_001177701.3(IFT27):c.93T>A (p.His31Gln)	IFT27 (H30Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072022	NM_001177701.3(IFT27):c.118A>G (p.Thr40Ala)	IFT27 (T39A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066448	NM_001177701.3(IFT27):c.35-17_35-15del	IFT27	Microsatellite (intron variant)	not provided	GLikely benign
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 2039410	NM_001177701.3(IFT27):c.235-18C>A	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2038584	NM_001177701.3(IFT27):c.175-16_175-11dup	CACNG2-DT, IFT27 +1 more	Duplication (intron variant)	not provided	GLikely benign
Select item 2033458	NM_001177701.3(IFT27):c.171del (p.Ser57fs)	IFT27 (S56fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 2013110	NM_001177701.3(IFT27):c.34+17dup	IFT27	Duplication (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 2010224	NM_001177701.3(IFT27):c.18C>G (p.Ala6=)	IFT27, LOC130067336	Single nucleotide variant (synonymous variant +1 more)	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 2000818	NM_001177701.3(IFT27):c.378C>T (p.Asp126=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 1934909	NM_001177701.3(IFT27):c.66A>G (p.Ala22=)	IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928854	NM_001177701.3(IFT27):c.114+20C>T	IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921131	NM_001177701.3(IFT27):c.27C>T (p.Ile9=)	IFT27, LOC130067336	Single nucleotide variant (synonymous variant +1 more)	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 1914548	NM_001177701.3(IFT27):c.24C>G (p.Cys8Trp)	IFT27, LOC130067336 (C8W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1913308	NM_001177701.3(IFT27):c.58G>A (p.Ala20Thr)	IFT27 (A19T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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	GUncertain significance
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 1716552	NM_001177701.3(IFT27):c.47T>C (p.Val16Ala)	IFT27 (V15A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1671624	NM_001177701.3(IFT27):c.114+9G>T	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 1670077	NM_001177701.3(IFT27):c.261C>T (p.Leu87=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661789	NM_001177701.3(IFT27):c.63G>T (p.Leu21=)	IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1645635	NM_001177701.3(IFT27):c.129T>C (p.Asp43=)	IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642390	NM_001177701.3(IFT27):c.174+17C>T	IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1614720	NM_001177701.3(IFT27):c.174+12C>T	IFT27	Single nucleotide variant (intron 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 1605395	NM_001177701.3(IFT27):c.462+14C>T	CACNG2-DT, IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1588807	NM_001177701.3(IFT27):c.72C>A (p.Ile24=)	IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587996	NM_001177701.3(IFT27):c.174+9T>A	IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1582805	NM_001177701.3(IFT27):c.174+11C>G	IFT27	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1554378	NM_001177701.3(IFT27):c.324G>A (p.Arg108=)	CACNG2-DT, IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1533324	NM_001177701.3(IFT27):c.463-18_463-11del	CACNG2-DT, IFT27	Deletion (intron variant)	not provided	GLikely benign
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 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 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 1493128	NM_001177701.3(IFT27):c.114+5G>T	IFT27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 1484515	NM_001177701.3(IFT27):c.76C>T (p.Arg26Cys)	IFT27 (R26C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1481658	NM_001177701.3(IFT27):c.181T>A (p.Phe61Ile)	CACNG2-DT, IFT27 +1 more (F60I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481438	NM_001177701.3(IFT27):c.197C>T (p.Ala66Val)	CACNG2-DT, IFT27 +1 more (A66V +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 1438203	NM_001177701.3(IFT27):c.136G>T (p.Val46Leu)	IFT27 (V46L +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 19 +1 more	GConflicting classifications of pathogenicity
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 1432659	NM_001177701.3(IFT27):c.90C>T (p.Ala30=)	IFT27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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