ClinVar for MedGen (Select 369401) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065725	NM_015272.5(RPGRIP1L):c.3396del (p.Gln1132_Val1133insTer)	RPGRIP1L	Deletion (frameshift variant +1 more)	Joubert syndrome 7	GLikely benign
Select item 2584957	NM_015272.5(RPGRIP1L):c.2891del (p.Pro964fs)	RPGRIP1L (P964fs)	Deletion (frameshift variant)	Joubert syndrome 7	GLikely pathogenic
Select item 2412744	NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)	RPGRIP1L (Q147*)	Single nucleotide variant (nonsense)	Joubert syndrome 7	GLikely pathogenic
Select item 1634498	NM_015272.5(RPGRIP1L):c.1244-18G>A	RPGRIP1L	Single nucleotide variant (intron variant)	Joubert syndrome 7 +4 more	GLikely benign
Select item 1633753	NM_015272.5(RPGRIP1L):c.1582-11T>G	RPGRIP1L	Single nucleotide variant (intron variant)	Joubert syndrome 7 +4 more	GLikely benign
Select item 1600336	NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	COACH syndrome 3 +5 more	GBenign/Likely benign
Select item 1587453	NM_015272.5(RPGRIP1L):c.882+12A>G	RPGRIP1L	Single nucleotide variant (intron variant)	Joubert syndrome 7 +4 more	GLikely benign
Select item 1536470	NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GLikely benign
Select item 1525226	NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	COACH syndrome 3 +4 more	GConflicting classifications of pathogenicity
Select item 1523470	NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln)	RPGRIP1L (R1070Q +3 more)	Single nucleotide variant (missense variant)	COACH syndrome 3 +4 more	GUncertain significance
Select item 1514168	NM_015272.5(RPGRIP1L):c.2958+1G>T	RPGRIP1L	Single nucleotide variant (splice donor variant)	Meckel syndrome, type 5 +4 more	GLikely pathogenic
Select item 1509164	NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr)	RPGRIP1L (A573T)	Single nucleotide variant (missense variant)	COACH syndrome 3 +4 more	GUncertain significance
Select item 1503833	NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys)	RPGRIP1L (Y638C)	Single nucleotide variant (missense variant)	COACH syndrome 3 +4 more	GUncertain significance
Select item 1503312	NM_015272.5(RPGRIP1L):c.3835+3A>G	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 1485458	NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu)	RPGRIP1L (D595E)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 1479051	NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His)	RPGRIP1L (Y864H)	Single nucleotide variant (missense variant)	COACH syndrome 3 +4 more	GUncertain significance
Select item 1459489	NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)	RPGRIP1L (R747*)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders +5 more	GPathogenic/Likely pathogenic
Select item 1453353	NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs)	RPGRIP1L (M24fs)	Duplication (frameshift variant)	Meckel-Gruber syndrome +5 more	GPathogenic/Likely pathogenic
Select item 1451391	NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)	RPGRIP1L (L200*)	Single nucleotide variant (nonsense)	COACH syndrome 3 +4 more	GPathogenic/Likely pathogenic
Select item 1444639	NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr)	RPGRIP1L (I1273T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1438372	NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr)	RPGRIP1L (A1248T +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +4 more	GUncertain significance
Select item 1430476	NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp)	RPGRIP1L (N361D)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +6 more	GUncertain significance
Select item 1423357	NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp)	RPGRIP1L (E492D)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +4 more	GUncertain significance
Select item 1422033	NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg)	RPGRIP1L (Q388R)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +4 more	GUncertain significance
Select item 1408000	NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs)	RPGRIP1L (D1191fs +3 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 1401620	NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His)	RPGRIP1L (Q249H)	Single nucleotide variant (missense variant)	COACH syndrome 3 +4 more	GUncertain significance
Select item 1395109	NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys)	RPGRIP1L (S860C)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +4 more	GUncertain significance
Select item 1389850	NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile)	RPGRIP1L (L1147I +3 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +4 more	GUncertain significance
Select item 1385305	NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys)	RPGRIP1L (Y574C)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +5 more	GUncertain significance
Select item 1379230	NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile)	RPGRIP1L (R797I)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +4 more	GUncertain significance
Select item 1373235	NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val)	RPGRIP1L (I723V)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +5 more	GUncertain significance
Select item 1351355	NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn)	RPGRIP1L (K706N)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +5 more	GUncertain significance
Select item 1348157	NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly)	RPGRIP1L (R34G)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +5 more	GUncertain significance
Select item 1326452	NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys)	RPGRIP1L (R1085C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 7 +5 more	GUncertain significance
Select item 1314368	NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp)	RPGRIP1L (G177D)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +5 more	GUncertain significance
Select item 1304261	NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu)	RPGRIP1L (A823L)	Indel (missense variant)	Joubert syndrome 7 +5 more	GUncertain significance
Select item 1185043	NM_015272.5(RPGRIP1L):c.1351-11A>G	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 1183316	NM_015272.5(RPGRIP1L):c.3432+67G>A	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel syndrome, type 5 +2 more	GBenign
Select item 1170151	NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg)	RPGRIP1L (H841R)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +4 more	GBenign/Likely benign
Select item 1168197	NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Joubert syndrome 7 +5 more	GBenign/Likely benign
Select item 1157105	NM_015272.5(RPGRIP1L):c.1699+14G>T	RPGRIP1L	Single nucleotide variant (intron variant)	Joubert syndrome 7 +4 more	GLikely benign
Select item 1152190	NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Joubert syndrome 7 +4 more	GLikely benign
Select item 1149394	NM_015272.5(RPGRIP1L):c.231-4C>A	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GLikely benign
Select item 1133286	NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	COACH syndrome 3 +4 more	GLikely benign
Select item 1111163	NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 5 +4 more	GLikely benign
Select item 1099180	NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 5 +4 more	GLikely benign
Select item 1097402	NM_015272.5(RPGRIP1L):c.3616+9G>T	RPGRIP1L	Single nucleotide variant (intron variant)	Joubert syndrome 7 +4 more	GLikely benign
Select item 1091567	NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +4 more	GLikely benign
Select item 1089048	NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	COACH syndrome 3 +4 more	GLikely benign
Select item 1072712	NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter)	RPGRIP1L (L698*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1071757	NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)	RPGRIP1L (E458*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +5 more	GPathogenic/Likely pathogenic
Select item 1065930	NM_015272.5(RPGRIP1L):c.530-1G>C	RPGRIP1L	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 7 +2 more	GLikely pathogenic
Select item 1057906	NM_015272.5(RPGRIP1L):c.1029+3A>C	RPGRIP1L	Single nucleotide variant (intron variant)	Joubert syndrome 7 +4 more	GUncertain significance
Select item 1054405	NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp)	RPGRIP1L (R1070W +3 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 1046539	NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His)	RPGRIP1L (Q767H)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 1045332	NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 1042176	NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln)	RPGRIP1L (R101Q)	Single nucleotide variant (missense variant)	RPGRIP1L-related condition +6 more	GUncertain significance
Select item 1040566	NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe)	RPGRIP1L (L546F)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 1024608	NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn)	RPGRIP1L (H553N)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 1013955	NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu)	RPGRIP1L (Q274L)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 1010364	NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His)	RPGRIP1L (R1156H +3 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +5 more	GUncertain significance
Select item 1010086	NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe)	RPGRIP1L (S337F)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 1008568	NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg)	RPGRIP1L (G721R)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +5 more	GUncertain significance
Select item 992275	NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs)	RPGRIP1L (E898fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 992048	NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp)	RPGRIP1L (E48D)	Single nucleotide variant (missense variant)	RPGRIP1L-related condition +6 more	GUncertain significance
Select item 992047	NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys)	RPGRIP1L (R69C)	Single nucleotide variant (missense variant)	RPGRIP1L-related condition +6 more	GUncertain significance
Select item 992043	NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln)	RPGRIP1L (R263Q)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +2 more	GUncertain significance
Select item 992042	NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr)	RPGRIP1L (M285T)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 992040	NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +4 more	GLikely benign
Select item 992039	NM_015272.5(RPGRIP1L):c.1143G>C (p.Lys381Asn)	RPGRIP1L (K381N)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +3 more	GUncertain significance
Select item 992038	NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg)	RPGRIP1L (L385R)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +5 more	GUncertain significance
Select item 992033	NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His)	RPGRIP1L (R535H)	Single nucleotide variant (missense variant)	RPGRIP1L-related condition +5 more	GUncertain significance
Select item 991025	NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 5 +4 more	GLikely benign
Select item 991022	NM_015272.5(RPGRIP1L):c.2351C>G (p.Ser784Cys)	RPGRIP1L (S784C)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +2 more	GUncertain significance
Select item 991021	NM_015272.5(RPGRIP1L):c.2408A>G (p.Gln803Arg)	RPGRIP1L (Q803R)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +2 more	GUncertain significance
Select item 991014	NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe)	RPGRIP1L (L947F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 991012	NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del)	RPGRIP1L (P992del)	Microsatellite (inframe_deletion +1 more)	RPGRIP1L-related condition +5 more	GUncertain significance
Select item 990371	NM_015272.5(RPGRIP1L):c.3809G>A (p.Arg1270Lys)	RPGRIP1L (R1190K +3 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +2 more	GUncertain significance
Select item 970944	NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys)	RPGRIP1L (R535C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 969822	NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn)	RPGRIP1L (K443N)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +4 more	GUncertain significance
Select item 969413	NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys)	RPGRIP1L (Y544C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 965972	NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val)	RPGRIP1L (I1140V +3 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 965380	NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly)	RPGRIP1L (E1034G +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +5 more	GUncertain significance
Select item 958759	NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)	RPGRIP1L (K1007* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 7 +5 more	GPathogenic/Likely pathogenic
Select item 958511	NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)	RPGRIP1L (L600*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
Select item 953913	NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln)	RPGRIP1L (R355Q)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +4 more	GUncertain significance
Select item 948469	NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser)	RPGRIP1L (A907S)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 937727	NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg)	RPGRIP1L (H825R)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 933535	NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val)	RPGRIP1L (I445V)	Single nucleotide variant (missense variant)	RPGRIP1L-related condition +6 more	GUncertain significance
Select item 931964	NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)	RPGRIP1L (R854*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 931963	NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)	RPGRIP1L (R602*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +3 more	GPathogenic/Likely pathogenic
Select item 931822	NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)	RPGRIP1L (R251*)	Single nucleotide variant (nonsense)	Joubert syndrome 7 +4 more	GPathogenic/Likely pathogenic
Select item 888428	NM_015272.5(RPGRIP1L):c.*1276G>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 888370	NM_015272.5(RPGRIP1L):c.*1869A>G	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 887977	NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys)	RPGRIP1L (R56C)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 887923	NM_015272.5(RPGRIP1L):c.530-15T>C	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel syndrome, type 5 +4 more	GConflicting classifications of pathogenicity
Select item 887796	NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp)	RPGRIP1L (E654D)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +4 more	GUncertain significance
Select item 887670	NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile)	RPGRIP1L (T1034I +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +4 more	GUncertain significance
Select item 887607	NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn)	RPGRIP1L (D1133N +3 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +4 more	GUncertain significance
Select item 887355	NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Nephronophthisis 8 +2 more	GUncertain significance

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