ClinVar for MedGen (Select 332931) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 306

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064191	NM_001134831.2(AHI1):c.1432T>C (p.Phe478Leu)	AHI1 (F478L)	Single nucleotide variant (missense variant)	Joubert syndrome 3	GUncertain significance
Select item 2921048	NM_001134831.2(AHI1):c.3109+6788A>C	AHI1 (K1052T)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 3	GUncertain significance
Select item 2920809	NM_001134831.2(AHI1):c.*1A>C	AHI1 (K1163N)	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 3	GUncertain significance
Select item 2734957	NM_001134831.2(AHI1):c.2684ATC[1] (p.His896del)	AHI1 (H896del)	Microsatellite (inframe_deletion)	Joubert syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 2584370	NM_001134831.2(AHI1):c.2266+1G>A	AHI1	Single nucleotide variant (splice donor variant)	Joubert syndrome 3	GPathogenic
Select item 2576618	NM_001134831.2(AHI1):c.2283del (p.Gly762fs)	AHI1 (G762fs)	Deletion (frameshift variant)	Joubert syndrome 3	GPathogenic
Select item 2442196	NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)	AHI1 (N1047fs)	Deletion (frameshift variant)	Joubert syndrome 3	GLikely pathogenic
Select item 2438944	NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr)	AHI1 (I623T)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1902127	NM_001134831.2(AHI1):c.928G>A (p.Ala310Thr)	AHI1 (A310T)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1803261	NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)	AHI1 (Q1035fs)	Deletion (frameshift variant)	Joubert syndrome 3	GLikely pathogenic
Select item 1699472	NM_001134831.2(AHI1):c.2036+6T>G	AHI1	Single nucleotide variant (intron variant)	Joubert syndrome 3	GLikely pathogenic
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 1637127	NM_001134831.2(AHI1):c.1683G>A (p.Val561=)	AHI1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 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 1608826	NM_001134831.2(AHI1):c.190-17A>G	AHI1	Single nucleotide variant (intron variant)	Joubert syndrome 3 +1 more	GLikely benign
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 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 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 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 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 1517152	NM_001134831.2(AHI1):c.281C>T (p.Thr94Met)	AHI1 (T94M)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 1516379	NM_001134831.2(AHI1):c.145A>G (p.Ile49Val)	AHI1 (I49V)	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 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 1498545	NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg)	AHI1 (L53R)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
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 1467693	NM_001134831.2(AHI1):c.3426+6T>A	AHI1	Single nucleotide variant (intron variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1465135	NM_001134831.2(AHI1):c.2560T>C (p.Cys854Arg)	AHI1 (C854R)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GUncertain significance
Select item 1459367	NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)	AHI1 (S661P)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +1 more	GPathogenic/Likely pathogenic
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
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 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 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 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 1422218	NM_001134831.2(AHI1):c.1420del (p.Ile474fs)	AHI1 (I474fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1339000	NM_001134831.2(AHI1):c.1933C>T (p.Arg645Cys)	AHI1 (R645C)	Single nucleotide variant (missense variant)	Joubert syndrome 3	GUncertain significance
Select item 1322974	NM_001134831.2(AHI1):c.1094dup (p.Met365fs)	AHI1 (M365fs)	Duplication (frameshift variant)	Joubert syndrome 3	GLikely pathogenic
Select item 1322971	NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer)	AHI1	Deletion (nonsense)	Joubert syndrome 3	GPathogenic
Select item 1322966	NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)	AHI1 (Y348*)	Single nucleotide variant (nonsense)	Joubert syndrome 3	GPathogenic
Select item 1322964	NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)	AHI1 (Q105*)	Single nucleotide variant (nonsense)	Joubert syndrome 3	GPathogenic
Select item 1322959	NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs)	AHI1 (N1020fs)	Duplication (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
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 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 1302895	NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser)	AHI1 (P111S)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +2 more	GUncertain significance
Select item 1213815	NM_001134831.2(AHI1):c.430del (p.Glu144fs)	AHI1 (E144fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +1 more	GPathogenic/Likely pathogenic
Select item 1188864	NM_001134831.2(AHI1):c.2037-77G>A	AHI1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1179159	GRCh37/hg19 6q23.3(chr6:135715893-135732702)	AHI1	Copy number loss	Joubert syndrome 3	GLikely pathogenic
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 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 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 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 1078525	NM_001134831.2(AHI1):c.135+19G>A	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 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 1064588	NM_001134831.2(AHI1):c.2492+5G>A	AHI1	Single nucleotide variant (intron variant)	Joubert syndrome 3	GLikely pathogenic
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 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 1059833	NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala)	AHI1 (T78A)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +2 more	GUncertain significance
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 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 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 1042847	NM_001134831.2(AHI1):c.191C>A (p.Pro64His)	AHI1 (P64H)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +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 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 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 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 1033851	NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr)	AHI1 (D541Y)	Single nucleotide variant (missense variant)	Joubert syndrome 3	GUncertain significance
Select item 1029631	NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg)	AHI1 (K121R)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1029630	NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)	AHI1 (W787*)	Single nucleotide variant (nonsense)	Joubert syndrome 3	GPathogenic
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 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 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 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 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 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 984718	NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)	AHI1 (R610*)	Single nucleotide variant (nonsense)	Joubert syndrome 3 +1 more	GPathogenic
Select item 975478	NM_001134831.2(AHI1):c.1270del (p.Ile424fs)	AHI1 (I424fs)	Deletion (frameshift variant)	Joubert syndrome 3	GLikely pathogenic
Select item 975477	NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)	AHI1 (G756C)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 973758	NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)	AHI1 (D383G)	Single nucleotide variant (missense variant)	Joubert syndrome 3	GLikely pathogenic
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 965222	NM_001134831.2(AHI1):c.485A>C (p.Gln162Pro)	AHI1 (Q162P)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
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 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 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

<< First< Prev

Page of 4