"Fulgent Genetics, Fulgent Genetics"[submitter] AND "RPGRIP1L"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1438372	NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr)	RPGRIP1L (A1248T +3 more)	Single nucleotide variant (missense variant)	COACH syndrome 3 +4 more	GUncertain significance
Select item 319647	NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)	RPGRIP1L (F1200S +3 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +6 more	GConflicting classifications of pathogenicity
Select item 1503312	NM_015272.5(RPGRIP1L):c.3835+3A>G	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel syndrome, type 5 +5 more	GUncertain significance
Select item 884392	NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg)	RPGRIP1L (Q1241R +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 8 +3 more	GUncertain significance
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 1408000	NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs)	RPGRIP1L (D1191fs +3 more)	Deletion (frameshift variant)	Meckel-Gruber syndrome +4 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 406248	NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile)	RPGRIP1L (V1180I +3 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 884393	NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met)	RPGRIP1L (V1257M +3 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +5 more	GUncertain significance
Select item 1152190	NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	COACH syndrome 3 +4 more	GLikely benign
Select item 212063	NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala)	RPGRIP1L (V1160A +3 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +8 more	GUncertain significance
Select item 1525226	NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
Select item 195977	NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met)	RPGRIP1L (V1159M +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1010364	NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His)	RPGRIP1L (R1156H +3 more)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder +5 more	GUncertain significance
Select item 235636	NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)	RPGRIP1L (R1156C +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +8 more	GUncertain significance
Select item 387843	NM_015272.5(RPGRIP1L):c.3702-16A>G	RPGRIP1L	Single nucleotide variant (intron variant)	Joubert syndrome 7 +5 more	GLikely benign
Select item 507671	NM_015272.5(RPGRIP1L):c.3701+19A>C	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel syndrome, type 5 +5 more	GLikely benign
Select item 383641	NM_015272.5(RPGRIP1L):c.3701+14G>A	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +5 more	GLikely benign
Select item 843885	NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile)	RPGRIP1L (M1150I +3 more)	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)	not provided +6 more	GUncertain significance
Select item 1097402	NM_015272.5(RPGRIP1L):c.3616+9G>T	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GLikely benign
Select item 1389850	NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile)	RPGRIP1L (L1147I +3 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 217694	NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)	RPGRIP1L (R1097* +3 more)	Single nucleotide variant (nonsense)	Meckel syndrome, type 5 +6 more	GPathogenic
Select item 530898	NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val)	RPGRIP1L (A1075V +3 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +4 more	GUncertain significance
Select item 260606	NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 1523470	NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln)	RPGRIP1L (R1070Q +3 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +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)	COACH syndrome 3 +4 more	GUncertain significance
Select item 598150	NM_015272.5(RPGRIP1L):c.3432+6T>G	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +5 more	GUncertain significance
Select item 167606	NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)	RPGRIP1L (Q1132R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +7 more	GBenign/Likely benign
Select item 1326452	NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys)	RPGRIP1L (R1085C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 5 +5 more	GUncertain significance
Select item 885391	NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)	RPGRIP1L (A1111T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 530894	NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr)	RPGRIP1L (A1101T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 208609	NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)	RPGRIP1L (A1067fs +1 more)	Microsatellite (frameshift variant +1 more)	Familial aplasia of the vermis +6 more	GPathogenic/Likely pathogenic
Select item 260603	NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +5 more	GLikely benign
Select item 965380	NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly)	RPGRIP1L (E1034G +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +5 more	GUncertain significance
Select item 958759	NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)	RPGRIP1L (K1007* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
Select item 813616	NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg)	RPGRIP1L (Q1005R +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +3 more	GUncertain significance
Select item 991012	NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del)	RPGRIP1L (P992del)	Microsatellite (inframe_deletion +1 more)	not provided +6 more	GUncertain significance
Select item 1514168	NM_015272.5(RPGRIP1L):c.2958+1G>T	RPGRIP1L	Single nucleotide variant (splice donor variant)	Joubert syndrome 7 +4 more	GLikely pathogenic
Select item 530904	NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met)	RPGRIP1L (V978M)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +4 more	GUncertain significance
Select item 856937	NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn)	RPGRIP1L (D972N)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +5 more	GUncertain significance
Select item 512387	NM_015272.5(RPGRIP1L):c.2875-19A>G	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +5 more	GLikely benign
Select item 1133286	NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GLikely benign
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 373193	NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys)	RPGRIP1L (E939K)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +6 more	GUncertain significance
Select item 948469	NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser)	RPGRIP1L (A907S)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 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 695575	NM_015272.5(RPGRIP1L):c.2683+7C>T	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GLikely benign
Select item 1074	NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)	RPGRIP1L (Q872*)	Single nucleotide variant (nonsense)	Meckel-Gruber syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1479051	NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His)	RPGRIP1L (Y864H)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +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 728310	NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GLikely benign
Select item 1170151	NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg)	RPGRIP1L (H841R)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +4 more	GBenign/Likely benign
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 1304261	NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu)	RPGRIP1L (A823L)	Indel (missense variant)	Joubert syndrome 7 +5 more	GUncertain significance
Select item 620438	NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter)	RPGRIP1L (Y817*)	Single nucleotide variant (nonsense)	Meckel syndrome, type 5 +5 more	GPathogenic/Likely pathogenic
Select item 696023	NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Joubert syndrome 7 +4 more	GLikely benign
Select item 1079	NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)	RPGRIP1L (R805*)	Single nucleotide variant (nonsense)	Meckel syndrome, type 5 +5 more	GPathogenic
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 659168	NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr)	RPGRIP1L (N800T)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +7 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 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 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 1046539	NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His)	RPGRIP1L (Q767H)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 1459489	NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)	RPGRIP1L (R747*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +5 more	GPathogenic/Likely pathogenic
Select item 1373235	NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val)	RPGRIP1L (I723V)	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)	not provided +5 more	GUncertain significance
Select item 596520	NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)	RPGRIP1L (R709*)	Single nucleotide variant (nonsense)	Joubert syndrome 7 +5 more	GPathogenic/Likely pathogenic
Select item 1351355	NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn)	RPGRIP1L (K706N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1072712	NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter)	RPGRIP1L (L698*)	Single nucleotide variant (nonsense)	COACH syndrome 3 +4 more	GPathogenic/Likely pathogenic
Select item 1076	NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)	RPGRIP1L (Q684*)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic/Likely pathogenic
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 856779	NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln)	RPGRIP1L (R649Q)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +5 more	GUncertain significance
Select item 648041	NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile)	RPGRIP1L (V647I)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +4 more	GUncertain significance
Select item 991025	NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GLikely benign
Select item 1503833	NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys)	RPGRIP1L (Y638C)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +4 more	GUncertain significance
Select item 657315	NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu)	RPGRIP1L (P629L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 838047	NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro)	RPGRIP1L (A623P)	Single nucleotide variant (missense variant)	COACH syndrome 3 +4 more	GUncertain significance
Select item 1069	NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	RPGRIP1L (T615P)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 289611	NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)	RPGRIP1L (E604K)	Single nucleotide variant (missense variant)	Nephronophthisis 8 +7 more	GConflicting classifications of pathogenicity
Select item 1045332	NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 5 +4 more	GUncertain significance
Select item 958511	NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)	RPGRIP1L (L600*)	Single nucleotide variant (nonsense)	Meckel syndrome, type 5 +4 more	GPathogenic/Likely pathogenic
Select item 1485458	NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu)	RPGRIP1L (D595E)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +4 more	GUncertain significance
Select item 406249	NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)	RPGRIP1L (V591A)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1111163	NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +4 more	GLikely benign
Select item 235333	NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)	RPGRIP1L (Y579C)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +7 more	GConflicting classifications of pathogenicity
Select item 1385305	NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys)	RPGRIP1L (Y574C)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +5 more	GUncertain significance
Select item 1168197	NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 5 +4 more	GBenign/Likely benign
Select item 1509164	NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr)	RPGRIP1L (A573T)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +5 more	GUncertain significance
Select item 188192	NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)	RPGRIP1L (D571fs)	Duplication (frameshift variant)	Meckel-Gruber syndrome +5 more	GPathogenic
Select item 530893	NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg)	RPGRIP1L (K570R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1157105	NM_015272.5(RPGRIP1L):c.1699+14G>T	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel syndrome, type 5 +4 more	GLikely benign
Select item 286978	NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)	RPGRIP1L (R561H)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +7 more	GConflicting classifications of pathogenicity
Select item 651693	NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys)	RPGRIP1L (R561C)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +4 more	GUncertain significance
Select item 423510	NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)	RPGRIP1L (L554I)	Single nucleotide variant (missense variant)	COACH syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 1024608	NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn)	RPGRIP1L (H553N)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +4 more	GUncertain significance
Select item 1040566	NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe)	RPGRIP1L (L546F)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +4 more	GUncertain significance
Select item 969413	NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys)	RPGRIP1L (Y544C)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +6 more	GUncertain significance
Select item 992033	NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His)	RPGRIP1L (R535H)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder +5 more	GUncertain significance
Select item 970944	NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys)	RPGRIP1L (R535C)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +6 more	GUncertain significance

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