ClinVar for Gene (Select 28981) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108471	NM_014055.4(IFT81):c.1996A>G (p.Ile666Val)	IFT81 (I666V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108470	NM_014055.4(IFT81):c.1877G>A (p.Arg626Gln)	IFT81 (R316Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108469	NM_014055.4(IFT81):c.1705T>C (p.Cys569Arg)	IFT81 (C259R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108468	NM_014055.4(IFT81):c.1621A>G (p.Ser541Gly)	IFT81 (S231G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108467	NM_014055.4(IFT81):c.1387G>C (p.Glu463Gln)	IFT81 (E153Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067265	NM_014055.4(IFT81):c.1538A>G (p.Gln513Arg)	IFT81 (Q203R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3017607	NM_014055.4(IFT81):c.1644+10G>T	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016221	NM_014055.4(IFT81):c.1743T>C (p.Ala581=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012449	NM_014055.4(IFT81):c.1087C>T (p.Gln363Ter)	IFT81 (Q53* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3007868	NM_014055.4(IFT81):c.1294G>A (p.Glu432Lys)	IFT81 (E122K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997258	NM_014055.4(IFT81):c.1645-2A>G	IFT81	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2989435	NM_014055.4(IFT81):c.1411C>T (p.Leu471=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981085	NM_014055.4(IFT81):c.174del (p.Glu59fs)	IFT81 (E59fs)	Deletion (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 2968968	NM_014055.4(IFT81):c.586-20T>C	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966622	NM_014055.4(IFT81):c.697-1G>C	IFT81	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2957720	NM_014055.4(IFT81):c.655_656del (p.Glu219fs)	IFT81 (E219fs)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 2957475	NM_014055.4(IFT81):c.693T>C (p.Asn231=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2956595	NM_014055.4(IFT81):c.886C>T (p.Gln296Ter)	IFT81 (Q296*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2881415	NM_014055.4(IFT81):c.99A>G (p.Gln33=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2869904	NM_014055.4(IFT81):c.1468G>A (p.Val490Met)	IFT81 (V180M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2866384	NM_014055.4(IFT81):c.952_956del (p.Glu318fs)	IFT81 (E318fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2862875	NM_014055.4(IFT81):c.1746T>G (p.Thr582=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2842011	NM_014055.4(IFT81):c.216_217insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGGCTTGGCCTGGCCGCGCCCCGCCCCCTCCCCGCCGAGCCGCCCGCCCATTGTCCCCCGCGGCCGCCCGAGCCTTCTTGGTATTCTT (p.Lys73fs)	IFT81 (K73fs)	Insertion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2839691	NM_014055.4(IFT81):c.1468-10C>A	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833895	NM_014055.4(IFT81):c.430-7C>T	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829996	NM_014055.4(IFT81):c.850G>T (p.Glu284Ter)	IFT81 (E284*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2828803	NM_014055.4(IFT81):c.1189-2A>G	IFT81	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2818177	NM_014055.4(IFT81):c.1779A>G (p.Gln593=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2816318	NM_014055.4(IFT81):c.1005G>A (p.Glu335=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2811051	NM_014055.4(IFT81):c.1717-6A>G	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809211	NM_014055.4(IFT81):c.2T>A (p.Met1Lys)	IFT81 (M1K)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2804698	NM_014055.4(IFT81):c.162A>G (p.Arg54=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2800532	NM_014055.4(IFT81):c.786A>G (p.Leu262=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2798607	NM_014055.4(IFT81):c.1849-18G>T	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791728	NM_014055.4(IFT81):c.2013G>A (p.Glu671=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2790498	NM_014055.4(IFT81):c.248+17G>T	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783443	NM_014055.4(IFT81):c.1717-12C>G	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776858	NM_014055.4(IFT81):c.697-17T>G	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730371	NM_014055.4(IFT81):c.1402G>A (p.Val468Ile)	IFT81 (V158I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2708184	NM_014055.4(IFT81):c.153G>A (p.Val51=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2696828	NM_014055.4(IFT81):c.1441C>A (p.Arg481=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2691451	NM_014055.4(IFT81):c.1066G>T (p.Glu356Ter)	IFT81 (E356* +1 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 19 with or without polydactyly	GPathogenic
Select item 2643286	NM_014055.4(IFT81):c.1188+4799T>C	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2609083	NM_014055.4(IFT81):c.1316A>T (p.His439Leu)	IFT81 (H439L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608278	NM_014055.4(IFT81):c.992T>C (p.Met331Thr)	IFT81 (M331T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555592	NM_014055.4(IFT81):c.671A>G (p.Gln224Arg)	IFT81 (Q224R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2425889	NC_000012.11:g.(?_110581167)_(110581370_?)del	IFT81	Deletion	not provided	GPathogenic
Select item 2424213	NC_000012.11:g.(?_110646956)_(110765842_?)del	ATP2A2, IFT81	Deletion	not provided	GPathogenic
Select item 2416525	NM_014055.4(IFT81):c.184G>T (p.Ala62Ser)	IFT81 (A62S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2339952	NM_014055.4(IFT81):c.1388A>G (p.Glu463Gly)	IFT81 (E153G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312296	NM_014055.4(IFT81):c.143A>T (p.Lys48Met)	IFT81 (K48M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2310884	NM_014055.4(IFT81):c.175G>A (p.Glu59Lys)	IFT81 (E59K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2291524	NM_014055.4(IFT81):c.266G>T (p.Gly89Val)	IFT81 (G89V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2290989	NM_014055.4(IFT81):c.855A>C (p.Leu285Phe)	IFT81 (L285F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2285061	NM_014055.4(IFT81):c.1361G>C (p.Gly454Ala)	IFT81 (G454A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2189222	NM_014055.4(IFT81):c.610T>C (p.Trp204Arg)	IFT81 (W204R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2178252	NM_014055.4(IFT81):c.1973G>A (p.Ser658Asn)	IFT81 (S658N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2172032	NM_014055.4(IFT81):c.159C>G (p.Ile53Met)	IFT81 (I53M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2166898	NM_014055.4(IFT81):c.1110C>T (p.Ala370=)	IFT81	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2166382	NM_014055.4(IFT81):c.388G>A (p.Glu130Lys)	IFT81 (E130K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2152639	NM_014055.4(IFT81):c.1629G>A (p.Arg543=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2144046	NM_014055.4(IFT81):c.1346T>C (p.Met449Thr)	IFT81 (M139T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2133097	NM_014055.4(IFT81):c.787A>G (p.Met263Val)	IFT81 (M263V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2132462	NM_014055.4(IFT81):c.566T>C (p.Val189Ala)	IFT81 (V189A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2131966	NM_014055.4(IFT81):c.264G>C (p.Gln88His)	IFT81 (Q88H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2131322	NM_014055.4(IFT81):c.301G>T (p.Val101Leu)	IFT81 (V101L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2129148	NM_014055.4(IFT81):c.248+14C>T	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2124718	NM_014055.4(IFT81):c.210T>C (p.Gly70=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2122753	NM_014055.4(IFT81):c.1189-9T>G	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116084	NM_014055.4(IFT81):c.1815C>T (p.Thr605=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2116060	NM_014055.4(IFT81):c.1219A>C (p.Lys407Gln)	IFT81 (K407Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2114214	NM_014055.4(IFT81):c.107A>G (p.Gln36Arg)	IFT81 (Q36R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2112574	NM_014055.4(IFT81):c.945+7G>A	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111051	NM_014055.4(IFT81):c.1746T>A (p.Thr582=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2108985	NM_014055.4(IFT81):c.408T>G (p.Thr136=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2102676	NM_014055.4(IFT81):c.1468-7A>G	IFT81	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2098426	NM_014055.4(IFT81):c.1803-20T>A	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096670	NM_014055.4(IFT81):c.1310A>G (p.Gln437Arg)	IFT81 (Q437R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2094838	NM_014055.4(IFT81):c.967A>G (p.Ile323Val)	IFT81 (I13V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2094659	NM_014055.4(IFT81):c.1644+11A>G	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2090412	NM_014055.4(IFT81):c.1758G>A (p.Lys586=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2090156	NM_014055.4(IFT81):c.365del (p.Phe121_Leu122insTer)	IFT81	Deletion (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 2089881	NM_014055.4(IFT81):c.1557+11G>C	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089644	NM_014055.4(IFT81):c.1533A>G (p.Leu511=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2086359	NM_014055.4(IFT81):c.631C>G (p.Gln211Glu)	IFT81 (Q211E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2075300	NM_014055.4(IFT81):c.526A>C (p.Ser176Arg)	IFT81 (S176R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2070385	NM_014055.4(IFT81):c.1042-5A>G	IFT81	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2065140	NM_014055.4(IFT81):c.1305T>C (p.Leu435=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2060998	NM_014055.4(IFT81):c.412G>T (p.Ala138Ser)	IFT81 (A138S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2058371	NM_014055.4(IFT81):c.585+9G>C	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2046561	NM_014055.4(IFT81):c.1618G>A (p.Glu540Lys)	IFT81 (E230K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2034068	NM_014055.4(IFT81):c.1147del (p.Thr383fs)	IFT81 (T383fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2033917	NM_014055.4(IFT81):c.430-8del	IFT81	Deletion (intron variant)	not provided	GLikely benign
Select item 2028899	NM_014055.4(IFT81):c.1746T>C (p.Thr582=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2025389	NM_014055.4(IFT81):c.1822dup (p.Thr608fs)	IFT81 (T608fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2023519	NM_014055.4(IFT81):c.408T>A (p.Thr136=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2023016	NM_014055.4(IFT81):c.1122A>G (p.Arg374=)	IFT81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2020725	NM_014055.4(IFT81):c.1537C>T (p.Gln513Ter)	IFT81 (Q203* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2016124	NM_014055.4(IFT81):c.1338+9G>C	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2011916	NM_014055.4(IFT81):c.1717-19C>G	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign

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