RPGRIP1L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	AKTIP, CAPNS2 +104 more	Copy number loss	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 319623	NM_015272.5(RPGRIP1L):c.*1883C>G	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 5 +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 319624	NM_015272.5(RPGRIP1L):c.*1693G>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 5 +3 more	GBenign
Select item 885264	NM_015272.5(RPGRIP1L):c.*1645A>T	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 319625	NM_015272.5(RPGRIP1L):c.*1627G>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 885265	NM_015272.5(RPGRIP1L):c.*1597G>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 319626	NM_015272.5(RPGRIP1L):c.*1584G>T	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 886160	NM_015272.5(RPGRIP1L):c.*1510G>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 319627	NM_015272.5(RPGRIP1L):c.*1482G>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 887174	NM_015272.5(RPGRIP1L):c.*1461A>T	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 887175	NM_015272.5(RPGRIP1L):c.*1385A>G	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 319628	NM_015272.5(RPGRIP1L):c.*1309C>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
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 319629	NM_015272.5(RPGRIP1L):c.*1207G>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 885330	NM_015272.5(RPGRIP1L):c.*1206C>T	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 319630	NM_015272.5(RPGRIP1L):c.*1035T>C	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 5 +2 more	GUncertain significance
Select item 886238	NM_015272.5(RPGRIP1L):c.*1033G>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GConflicting classifications of pathogenicity
Select item 319631	NM_015272.5(RPGRIP1L):c.*980T>C	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 5 +2 more	GUncertain significance
Select item 319632	NM_015272.5(RPGRIP1L):c.*901A>G	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis +2 more	GUncertain significance
Select item 319633	NM_015272.5(RPGRIP1L):c.*875A>G	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 5 +2 more	GUncertain significance
Select item 887240	NM_015272.5(RPGRIP1L):c.*851C>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 887241	NM_015272.5(RPGRIP1L):c.*846A>T	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 887242	NM_015272.5(RPGRIP1L):c.*822A>G	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 319634	NM_015272.5(RPGRIP1L):c.*737T>G	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 5 +3 more	GBenign
Select item 319635	NM_015272.5(RPGRIP1L):c.*698T>C	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 319636	NM_015272.5(RPGRIP1L):c.*626A>C	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 5 +2 more	GUncertain significance
Select item 884275	NM_015272.5(RPGRIP1L):c.*588A>G	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 319637	NM_015272.5(RPGRIP1L):c.*532T>C	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 319638	NM_015272.5(RPGRIP1L):c.*506T>G	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 5 +2 more	GUncertain significance
Select item 886309	NM_015272.5(RPGRIP1L):c.*491C>G	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +3 more	GConflicting classifications of pathogenicity
Select item 319639	NM_015272.5(RPGRIP1L):c.*418G>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 5 +2 more	GUncertain significance
Select item 319640	NM_015272.5(RPGRIP1L):c.*332T>G	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 319641	NM_015272.5(RPGRIP1L):c.*270G>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 319642	NM_015272.5(RPGRIP1L):c.*269C>T	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 319643	NM_015272.5(RPGRIP1L):c.*262G>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 884338	NM_015272.5(RPGRIP1L):c.*159T>G	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 884339	NM_015272.5(RPGRIP1L):c.*133T>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 884340	NM_015272.5(RPGRIP1L):c.*125G>T	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 7 +2 more	GUncertain significance
Select item 319644	NM_015272.5(RPGRIP1L):c.*119C>T	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 886358	NM_015272.5(RPGRIP1L):c.*107G>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 319645	NM_015272.5(RPGRIP1L):c.*55T>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 5 +3 more	GBenign
Select item 887354	NM_015272.5(RPGRIP1L):c.*53G>A	RPGRIP1L	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 2202255	NM_015272.5(RPGRIP1L):c.3939G>A (p.Leu1313=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 126280	NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Joubert syndrome 7 +6 more	GBenign
Select item 1500233	NM_015272.5(RPGRIP1L):c.3935A>C (p.Asp1312Ala)	RPGRIP1L (D1232A +3 more)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder +2 more	GUncertain significance
Select item 699557	NM_015272.5(RPGRIP1L):c.3928A>G (p.Arg1310Gly)	RPGRIP1L (R1276G +3 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 1016406	NM_015272.5(RPGRIP1L):c.3920A>G (p.Lys1307Arg)	RPGRIP1L (K1227R +3 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1144611	NM_015272.5(RPGRIP1L):c.3912T>C (p.Ser1304=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1140879	NM_015272.5(RPGRIP1L):c.3903C>T (p.Ala1301=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 887355	NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 2054306	NM_015272.5(RPGRIP1L):c.3901G>A (p.Ala1301Thr)	RPGRIP1L (A1255T +3 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 515296	NM_015272.5(RPGRIP1L):c.3897C>G (p.Leu1299=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 2049621	NM_015272.5(RPGRIP1L):c.3889G>A (p.Glu1297Lys)	RPGRIP1L (E1263K +3 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1673619	NM_015272.5(RPGRIP1L):c.3888C>T (p.Val1296=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2053843	NM_015272.5(RPGRIP1L):c.3887T>A (p.Val1296Asp)	RPGRIP1L (V1296D +3 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1987915	NM_015272.5(RPGRIP1L):c.3886G>A (p.Val1296Ile)	RPGRIP1L (V1262I +3 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 319646	NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 5 +5 more	GConflicting classifications of pathogenicity
Select item 1920431	NM_015272.5(RPGRIP1L):c.3880G>A (p.Val1294Ile)	RPGRIP1L (V1248I +3 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 285385	NM_015272.5(RPGRIP1L):c.3878G>C (p.Arg1293Thr)	RPGRIP1L (R1293T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2622662	NM_015272.5(RPGRIP1L):c.3874C>T (p.Leu1292Phe)	RPGRIP1L (L1292F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1651856	NM_015272.5(RPGRIP1L):c.3864T>C (p.Gly1288=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 511206	NM_015272.5(RPGRIP1L):c.3858T>C (p.Gly1286=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 971684	NM_015272.5(RPGRIP1L):c.3857G>T (p.Gly1286Val)	RPGRIP1L (G1206V +3 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 2054338	NM_015272.5(RPGRIP1L):c.3848G>A (p.Arg1283Gln)	RPGRIP1L (R1249Q +3 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1636519	NM_015272.5(RPGRIP1L):c.3847C>A (p.Arg1283=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1372804	NM_015272.5(RPGRIP1L):c.3845C>T (p.Ala1282Val)	RPGRIP1L (A1282V +3 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
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 1116069	NM_015272.5(RPGRIP1L):c.3837T>G (p.Val1279=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1087884	NM_015272.5(RPGRIP1L):c.3836-4C>A	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2937912	NM_015272.5(RPGRIP1L):c.3836-5C>T	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 260609	NM_015272.5(RPGRIP1L):c.3836-13C>G	RPGRIP1L	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1606125	NM_015272.5(RPGRIP1L):c.3836-15C>A	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2023439	NM_015272.5(RPGRIP1L):c.3836-16G>A	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2935008	NM_015272.5(RPGRIP1L):c.3836-18C>T	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2946351	NM_015272.5(RPGRIP1L):c.3836-19C>T	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1583619	NM_015272.5(RPGRIP1L):c.3836-19C>G	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2949260	NM_015272.5(RPGRIP1L):c.3836-21_3836-20del	RPGRIP1L	Deletion (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1539240	NM_015272.5(RPGRIP1L):c.3836-20T>C	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 671910	NM_015272.5(RPGRIP1L):c.3836-309G>A	RPGRIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214472	NM_015272.5(RPGRIP1L):c.3835+323C>T	RPGRIP1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256902	NM_015272.5(RPGRIP1L):c.3835+185C>A	RPGRIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2941735	NM_015272.5(RPGRIP1L):c.3835+20_3835+34del	RPGRIP1L	Deletion (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2933489	NM_015272.5(RPGRIP1L):c.3835+19C>T	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2936017	NM_015272.5(RPGRIP1L):c.3835+18G>T	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2950884	NM_015272.5(RPGRIP1L):c.3835+15G>A	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 2931203	NM_015272.5(RPGRIP1L):c.3835+14T>C	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2931934	NM_015272.5(RPGRIP1L):c.3835+13G>A	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GLikely benign
Select item 1978383	NM_015272.5(RPGRIP1L):c.3835+12A>T	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 1361384	NM_015272.5(RPGRIP1L):c.3835+5G>A	RPGRIP1L	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +1 more	GUncertain significance
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 2252975	NM_015272.5(RPGRIP1L):c.3835+1G>A	RPGRIP1L	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 596490	NM_015272.5(RPGRIP1L):c.3832G>A (p.Asp1278Asn)	RPGRIP1L (D1198N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2947781	NM_015272.5(RPGRIP1L):c.3831C>A (p.Ile1277=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +1 more	GLikely benign

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