"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AHI1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1636673	NM_001134831.2(AHI1):c.3588+15A>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 839490	NM_001134831.2(AHI1):c.3588+1G>A	AHI1	Single nucleotide variant (splice donor variant +1 more)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1000123	NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=)	AHI1	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 842041	NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val)	AHI1 (I1195V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 388935	NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)	AHI1 (E1168G)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 1517328	NM_001134831.2(AHI1):c.3485+6C>T	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 856975	NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val)	AHI1 (M1160V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 1014080	NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val)	AHI1 (I1145V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1467693	NM_001134831.2(AHI1):c.3426+6T>A	AHI1	Single nucleotide variant (intron variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1041763	NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser)	AHI1 (P1125S)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 696678	NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1389334	NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile)	AHI1 (T1110I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1608542	NM_001134831.2(AHI1):c.3329-20A>G	AHI1	Single nucleotide variant (intron variant)	Joubert syndrome 3 +1 more	GLikely benign
Select item 1078221	NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=)	AHI1	Single nucleotide variant (synonymous variant)	Joubert syndrome 3 +1 more	GLikely benign
Select item 1375294	NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr)	AHI1 (I1093T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1390440	NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln)	AHI1 (R1079Q)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1065721	NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)	AHI1 (R1079*)	Single nucleotide variant (nonsense)	Joubert syndrome 3 +2 more	GPathogenic/Likely pathogenic
Select item 645894	NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly)	AHI1 (E1069G)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 389054	NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala)	AHI1 (P1054A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 940115	NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr)	AHI1 (A1053T)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1390662	NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr)	AHI1 (A1024T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 128326	NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=)	AHI1	Single nucleotide variant (synonymous variant)	Joubert syndrome 3 +2 more	GBenign/Likely benign
Select item 1038813	NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg)	AHI1 (Q958R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1419427	NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg)	AHI1 (Q946R)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1436355	NM_001134831.2(AHI1):c.2813C>T (p.Pro938Leu)	AHI1 (P938L)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1396593	NM_001134831.2(AHI1):c.2795G>A (p.Arg932His)	AHI1 (R932H)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1038726	NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr)	AHI1 (H921Y)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1152685	NM_001134831.2(AHI1):c.2718A>G (p.Ala906=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 858292	NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)	AHI1 (R891*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 906338	NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)	AHI1 (K887R)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1313433	NM_001134831.2(AHI1):c.2638A>G (p.Met880Val)	AHI1 (M880V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1532758	NM_001134831.2(AHI1):c.2623+12T>C	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1479853	NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala)	AHI1 (T874A)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 242516	NM_001134831.2(AHI1):c.2561G>T (p.Cys854Phe)	AHI1 (C854F)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1507578	NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser)	AHI1 (L851S)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1060868	NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val)	AHI1 (L851V)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1022398	NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys)	AHI1 (R835K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 939698	NM_001134831.2(AHI1):c.2492+3A>G	AHI1	Single nucleotide variant (intron variant)	Joubert syndrome 3 +2 more	GUncertain significance
Select item 954799	NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln)	AHI1 (R830Q)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 867068	NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala)	AHI1 (D828A)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 1424152	NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp)	AHI1 (N811D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1113721	NM_001134831.2(AHI1):c.2418G>A (p.Leu806=)	AHI1	Single nucleotide variant (synonymous variant)	Joubert syndrome 3 +1 more	GLikely benign
Select item 1055770	NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val)	AHI1 (I803V)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +2 more	GUncertain significance
Select item 260845	NM_001134831.2(AHI1):c.2374-12del	AHI1	Deletion (intron variant)	Joubert syndrome 3 +2 more	GBenign/Likely benign
Select item 1359202	NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile)	AHI1 (V770I)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 286969	NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile)	AHI1 (T765I)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 958413	NM_001134831.2(AHI1):c.2285G>A (p.Gly762Glu)	AHI1 (G762E)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1411175	NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala)	AHI1 (G756A)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1440770	NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala)	AHI1 (T754A)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 852023	NM_001134831.2(AHI1):c.2247dup (p.Leu750fs)	AHI1 (L750fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 838579	NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg)	AHI1 (K744R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 904012	NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly)	AHI1 (D741G)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 217525	NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)	AHI1 (R738*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1039312	NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val)	AHI1 (I735V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1052760	NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr)	AHI1 (I680T)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 260842	NM_001134831.2(AHI1):c.2037-7T>C	AHI1	Single nucleotide variant (intron variant)	Joubert syndrome 3 +2 more	GLikely benign
Select item 1352564	NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala)	AHI1 (T671A)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1423530	NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val)	AHI1 (I669V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1356895	NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser)	AHI1 (P642S)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1100279	NM_001134831.2(AHI1):c.1917T>C (p.Tyr639=)	AHI1	Single nucleotide variant (synonymous variant)	Joubert syndrome 3 +1 more	GLikely benign
Select item 1008740	NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp)	AHI1 (R631W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 210113	NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)	AHI1 (G621*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 1056809	NM_001134831.2(AHI1):c.1859A>G (p.Asn620Ser)	AHI1 (N620S)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 861243	NM_001134831.2(AHI1):c.1840dup (p.Cys614fs)	AHI1 (C614fs)	Duplication (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic/Likely pathogenic
Select item 984718	NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)	AHI1 (R610*)	Single nucleotide variant (nonsense)	Joubert syndrome 3 +1 more	GPathogenic
Select item 1370876	NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)	AHI1 (K600fs)	Microsatellite (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic/Likely pathogenic
Select item 2014	NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)	AHI1 (R589*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 260838	NM_001134831.2(AHI1):c.1719C>T (p.Asp573=)	AHI1	Single nucleotide variant (synonymous variant)	Joubert syndrome 3 +3 more	GLikely benign
Select item 241183	NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys)	AHI1 (R565C)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +2 more	GUncertain significance
Select item 1637127	NM_001134831.2(AHI1):c.1683G>A (p.Val561=)	AHI1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 847787	NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys)	AHI1 (R548C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 906405	NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile)	AHI1 (V532I)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 387415	NM_001134831.2(AHI1):c.1533T>G (p.Val511=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 1670405	NM_001134831.2(AHI1):c.1516C>A (p.Arg506=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 217534	NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)	AHI1 (R506*)	Single nucleotide variant (nonsense)	Joubert syndrome 3 +2 more	GPathogenic
Select item 1581993	NM_001134831.2(AHI1):c.1494A>G (p.Leu498=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 450058	NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser)	AHI1 (N485S)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 697508	NM_001134831.2(AHI1):c.1404A>G (p.Glu468=)	AHI1	Single nucleotide variant (synonymous variant)	Joubert syndrome 3 +2 more	GBenign/Likely benign
Select item 1020392	NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys)	AHI1 (E448K)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1347277	NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe)	AHI1 (S437F)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 969396	NM_001134831.2(AHI1):c.1303C>A (p.Arg435=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 1383933	NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe)	AHI1 (L434F)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1598027	NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val)	AHI1 (I424V)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GBenign/Likely benign
Select item 217523	NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)	AHI1 (Q423*)	Single nucleotide variant (nonsense)	Retinal dystrophy +5 more	GPathogenic
Select item 217543	NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)	AHI1 (W420*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1064388	NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys)	AHI1 (Y392C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1383642	NM_001134831.2(AHI1):c.1156C>T (p.Arg386Trp)	AHI1 (R386W)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 235332	NM_001134831.2(AHI1):c.1152-11T>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +3 more	GBenign/Likely benign
Select item 1610803	NM_001134831.2(AHI1):c.1149T>C (p.Asp383=)	AHI1	Single nucleotide variant (synonymous variant)	Joubert syndrome 3 +1 more	GLikely benign
Select item 1504291	NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu)	AHI1 (P332L)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 30760	NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)	AHI1 (R329*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic
Select item 1001862	NM_001134831.2(AHI1):c.971A>G (p.His324Arg)	AHI1 (H324R)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1143595	NM_001134831.2(AHI1):c.931+8A>G	AHI1	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 217536	NM_001134831.2(AHI1):c.910dup (p.Thr304fs)	AHI1 (T304fs)	Duplication (frameshift variant)	Familial aplasia of the vermis +3 more	GPathogenic
Select item 1302896	NM_001134831.2(AHI1):c.878T>C (p.Met293Thr)	AHI1 (M293T)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +2 more	GUncertain significance
Select item 954680	NM_001134831.2(AHI1):c.853A>G (p.Met285Val)	AHI1 (M285V)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 217538	NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)	AHI1 (S221*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 383598	NM_001134831.2(AHI1):c.573A>C (p.Ala191=)	AHI1	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +3 more	GLikely benign
Select item 1415005	NM_001134831.2(AHI1):c.553G>T (p.Asp185Tyr)	AHI1 (D185Y)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1458722	NM_001134831.2(AHI1):c.533_534del (p.Glu178fs)	AHI1 (E178fs)	Deletion (frameshift variant)	Joubert syndrome 3 +1 more	GPathogenic/Likely pathogenic

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