IFT81[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 432

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	ABTB3, ACACB +316 more	Copy number loss	See cases	GPathogenic
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 1354574	NM_014055.4(IFT81):c.4A>G (p.Ser2Gly)	IFT81 (S2G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1660120	NM_014055.4(IFT81):c.6T>C (p.Ser2=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 862599	NM_014055.4(IFT81):c.8A>G (p.Asp3Gly)	IFT81 (D3G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1147793	NM_014055.4(IFT81):c.9T>C (p.Asp3=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1039058	NM_014055.4(IFT81):c.25A>G (p.Met9Val)	IFT81 (M9V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1908622	NM_014055.4(IFT81):c.31A>C (p.Ser11Arg)	IFT81 (S11R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1952973	NM_014055.4(IFT81):c.38A>G (p.Asn13Ser)	IFT81 (N13S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1516757	NM_014055.4(IFT81):c.46C>A (p.Pro16Thr)	IFT81 (P16T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1920082	NM_014055.4(IFT81):c.51T>C (p.Phe17=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1370894	NM_014055.4(IFT81):c.64A>G (p.Asn22Asp)	IFT81 (N22D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 731781	NM_014055.4(IFT81):c.65A>C (p.Asn22Thr)	IFT81 (N22T)	Single nucleotide variant (missense variant +2 more)	IFT81-related condition +1 more	GLikely benign
Select item 1665207	NM_014055.4(IFT81):c.75G>A (p.Thr25=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1474629	NM_014055.4(IFT81):c.76T>C (p.Phe26Leu)	IFT81 (F26L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 495122	NM_014055.4(IFT81):c.87G>C (p.Leu29Phe)	IFT81 (L29F)	Single nucleotide variant (5 prime UTR variant +2 more)	Short-rib thoracic dysplasia 19 with or without polydactyly +1 more	GPathogenic/Likely pathogenic
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 1161807	NM_014055.4(IFT81):c.102A>G (p.Leu34=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1380233	NM_014055.4(IFT81):c.109G>A (p.Val37Ile)	IFT81 (V37I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1954136	NM_014055.4(IFT81):c.117T>G (p.Ser39Arg)	IFT81 (S39R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1338762	NM_014055.4(IFT81):c.134T>C (p.Ile45Thr)	IFT81 (I45T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 1352550	NM_014055.4(IFT81):c.144+6A>T	IFT81	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1137251	NM_014055.4(IFT81):c.144+14C>G	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170913	NM_014055.4(IFT81):c.144+23del	IFT81	Deletion (intron variant)	not provided	GBenign
Select item 1125119	NM_014055.4(IFT81):c.145-20T>A	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1517805	NM_014055.4(IFT81):c.145-13A>G	IFT81	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1424553	NM_014055.4(IFT81):c.149T>G (p.Leu50Arg)	IFT81 (L50R)	Single nucleotide variant (missense variant +2 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 1358614	NM_014055.4(IFT81):c.155A>G (p.Asp52Gly)	IFT81 (D52G)	Single nucleotide variant (missense variant +2 more)	not provided	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 2804698	NM_014055.4(IFT81):c.162A>G (p.Arg54=)	IFT81	Single nucleotide variant (synonymous variant +2 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 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 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 1323109	NM_014055.4(IFT81):c.190C>T (p.Arg64Ter)	IFT81 (R64*)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 19 with or without polydactyly +1 more	GPathogenic
Select item 1483017	NM_014055.4(IFT81):c.191G>A (p.Arg64Gln)	IFT81 (R64Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2842011	NM_014055.4(IFT81):c.216_217insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGGCTTGGCCTGGCCGCGCCCCGCCCCCTCCCCGCCGAGCCGCCCGCCCATTGTCCCCCGCGGCCGCCCGAGCCTTCTTGGTATTCTT (p.Lys73fs)	IFT81 (K73fs)	Insertion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1721639	NM_014055.4(IFT81):c.200G>A (p.Ser67Asn)	IFT81 (S67N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1018736	NM_014055.4(IFT81):c.201C>A (p.Ser67Arg)	IFT81 (S67R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1378187	NM_014055.4(IFT81):c.224A>G (p.Lys75Arg)	IFT81 (K75R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1466099	NM_014055.4(IFT81):c.233G>A (p.Gly78Glu)	IFT81 (G78E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1481265	NM_014055.4(IFT81):c.248T>C (p.Met83Thr)	IFT81 (M83T)	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 2790498	NM_014055.4(IFT81):c.248+17G>T	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648809	NM_014055.4(IFT81):c.248+17G>A	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970566	NM_014055.4(IFT81):c.248+19A>T	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896424	NM_014055.4(IFT81):c.248+20T>C	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270026	NM_014055.4(IFT81):c.249-140del	IFT81	Deletion (intron variant)	not provided	GBenign
Select item 1975602	NM_014055.4(IFT81):c.249-17G>A	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 957583	NM_014055.4(IFT81):c.249-1G>A	IFT81	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 599486	NM_014055.4(IFT81):c.259C>T (p.Arg87Cys)	IFT81 (R87C)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 1504793	NM_014055.4(IFT81):c.260G>A (p.Arg87His)	IFT81 (R87H)	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 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 1383477	NM_014055.4(IFT81):c.281G>A (p.Ser94Asn)	IFT81 (S94N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2001983	NM_014055.4(IFT81):c.297C>T (p.Tyr99=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1664616	NM_014055.4(IFT81):c.334C>T (p.Leu112=)	IFT81	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1541298	NM_014055.4(IFT81):c.345A>G (p.Arg115=)	IFT81	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1470949	NM_014055.4(IFT81):c.346G>T (p.Ala116Ser)	IFT81 (A116S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1962677	NM_014055.4(IFT81):c.347del (p.Ala116fs)	IFT81 (A116fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1899699	NM_014055.4(IFT81):c.356C>T (p.Ala119Val)	IFT81 (A119V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1431939	NM_014055.4(IFT81):c.359G>A (p.Arg120His)	IFT81 (R120H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1395847	NM_014055.4(IFT81):c.365dup (p.Leu122fs)	IFT81 (L122fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
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 943137	NM_014055.4(IFT81):c.365T>A (p.Leu122Ter)	IFT81 (L122*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1440210	NM_014055.4(IFT81):c.385A>T (p.Ser129Cys)	IFT81 (S129C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1170124	NM_014055.4(IFT81):c.401A>G (p.Asp134Gly)	IFT81 (D134G)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 2023519	NM_014055.4(IFT81):c.408T>A (p.Thr136=)	IFT81	Single nucleotide variant (synonymous variant +2 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 1415150	NM_014055.4(IFT81):c.419C>T (p.Thr140Ile)	IFT81 (T140I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1159876	NM_014055.4(IFT81):c.422A>G (p.Asn141Ser)	IFT81 (N141S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2000502	NM_014055.4(IFT81):c.425A>G (p.Lys142Arg)	IFT81 (K142R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1559884	NM_014055.4(IFT81):c.429+10del	IFT81	Deletion (intron variant)	not provided	GLikely benign
Select item 1246174	NM_014055.4(IFT81):c.430-72dup	IFT81	Duplication (intron variant)	not provided	GBenign
Select item 1623536	NM_014055.4(IFT81):c.430-15A>C	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548701	NM_014055.4(IFT81):c.430-12T>G	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1129080	NM_014055.4(IFT81):c.430-12T>A	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629227	NM_014055.4(IFT81):c.430-10A>C	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033917	NM_014055.4(IFT81):c.430-8del	IFT81	Deletion (intron variant)	not provided	GLikely benign
Select item 1140916	NM_014055.4(IFT81):c.430-9T>C	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 1605407	NM_014055.4(IFT81):c.441A>G (p.Leu147=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1397065	NM_014055.4(IFT81):c.461T>C (p.Leu154Ser)	IFT81 (L154S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1520834	NM_014055.4(IFT81):c.464A>G (p.His155Arg)	IFT81 (H155R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1019375	NM_014055.4(IFT81):c.489A>G (p.Ile163Met)	IFT81 (I163M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1994248	NM_014055.4(IFT81):c.504A>G (p.Thr168=)	IFT81	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1934994	NM_014055.4(IFT81):c.506C>G (p.Ala169Gly)	IFT81 (A169G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1102802	NM_014055.4(IFT81):c.519+7G>A	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1093063	NM_014055.4(IFT81):c.519+9A>C	IFT81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925894	NM_014055.4(IFT81):c.519+14_519+15del	IFT81	Deletion (intron variant)	not provided	GLikely benign
Select item 1027103	NM_014055.4(IFT81):c.521A>C (p.Asp174Ala)	IFT81 (D174A)	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 1492283	NM_014055.4(IFT81):c.532A>G (p.Met178Val)	IFT81 (M178V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

<< First< Prev

Page of 5