C1969053[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 219985	NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)	PKD2 (M800L)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 7 +4 more	GConflicting classifications of pathogenicity
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)	Nephronophthisis 8 +2 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)	Meckel syndrome, type 5 +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)	Nephronophthisis 8 +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 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)	Nephronophthisis 8 +2 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)	Meckel syndrome, type 5 +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)	Nephronophthisis 8 +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 126280	NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +5 more	GBenign
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 319646	NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 319647	NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)	RPGRIP1L (F1200S +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +6 more	GConflicting classifications of pathogenicity
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 126279	NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)	RPGRIP1L (D1184N +3 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +5 more	GBenign/Likely benign
Select item 884393	NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met)	RPGRIP1L (V1257M +3 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +6 more	GUncertain significance
Select item 212063	NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala)	RPGRIP1L (V1160A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 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 +9 more	GUncertain significance
Select item 260608	NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 5 +6 more	GConflicting classifications of pathogenicity
Select item 283822	NM_015272.5(RPGRIP1L):c.3616+7A>G	RPGRIP1L	Single nucleotide variant (intron variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 319649	NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu)	RPGRIP1L (P1193L +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 241026	NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)	RPGRIP1L (V1108M +3 more)	Single nucleotide variant (missense variant)	RPGRIP1L-related condition +5 more	GConflicting classifications of pathogenicity
Select item 95693	NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)	RPGRIP1L (A1103G +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 8 +6 more	GBenign/Likely benign
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 260607	NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)	RPGRIP1L (I1071L +3 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 95692	NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)	RPGRIP1L (T1143S +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 8 +5 more	GBenign
Select item 167606	NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)	RPGRIP1L (Q1132R +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 5 +7 more	GBenign/Likely benign
Select item 167607	NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)	RPGRIP1L	Single nucleotide variant (synonymous variant +1 more)	Kidney disorder +7 more	GConflicting classifications of pathogenicity
Select item 885391	NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)	RPGRIP1L (A1111T +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 7 +6 more	GConflicting classifications of pathogenicity
Select item 260604	NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)	RPGRIP1L	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 389310	NM_015272.5(RPGRIP1L):c.3220+13T>C	RPGRIP1L	Single nucleotide variant (intron variant)	Nephronophthisis 8 +6 more	GConflicting classifications of pathogenicity
Select item 319651	NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe)	RPGRIP1L (S1026F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 319652	NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His)	RPGRIP1L (Q1051H +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 8 +2 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 126277	NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)	RPGRIP1L (G1025S +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +5 more	GBenign
Select item 700570	NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr)	RPGRIP1L (H1004Y)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 7 +4 more	GConflicting classifications of pathogenicity
Select item 319653	NM_015272.5(RPGRIP1L):c.2959-15T>C	RPGRIP1L	Single nucleotide variant (intron variant)	Joubert syndrome 7 +5 more	GBenign/Likely benign
Select item 319654	NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr)	RPGRIP1L (S976T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 95691	NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	RPGRIP1L-related condition +7 more	GConflicting classifications of pathogenicity
Select item 212062	NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)	RPGRIP1L (I936S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 319655	NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 281767	NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 260599	NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	RPGRIP1L-related condition +5 more	GConflicting classifications of pathogenicity
Select item 194767	NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)	RPGRIP1L (N881K)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1074	NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)	RPGRIP1L (Q872*)	Single nucleotide variant (nonsense)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 319656	NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Joubert syndrome 7 +4 more	GConflicting classifications of pathogenicity
Select item 319657	NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala)	RPGRIP1L (V846A)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +5 more	GUncertain significance
Select item 319658	NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln)	RPGRIP1L (R805Q)	Single nucleotide variant (missense variant)	Nephronophthisis 8 +5 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 +8 more	GUncertain significance
Select item 319659	NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile)	RPGRIP1L (T776I)	Single nucleotide variant (missense variant)	Nephronophthisis 8 +4 more	GUncertain significance
Select item 885522	NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 5 +4 more	GConflicting classifications of pathogenicity
Select item 166909	NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)	RPGRIP1L (R747Q)	Single nucleotide variant (missense variant)	RPGRIP1L-related condition +6 more	GConflicting classifications of pathogenicity
Select item 95690	NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)	RPGRIP1L (R744Q)	Single nucleotide variant (missense variant)	Nephronophthisis 8 +6 more	GBenign/Likely benign
Select item 319660	NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln)	RPGRIP1L (R734Q)	Single nucleotide variant (missense variant)	Nephronophthisis 8 +6 more	GUncertain significance
Select item 95689	NM_015272.5(RPGRIP1L):c.2153-4G>C	RPGRIP1L	Single nucleotide variant (intron variant)	not specified +6 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 319661	NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)	RPGRIP1L (E654K)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 289611	NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)	RPGRIP1L (E604K)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 235333	NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)	RPGRIP1L (Y579C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 530906	NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Nephronophthisis 8 +5 more	GConflicting classifications of pathogenicity
Select item 286978	NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)	RPGRIP1L (R561H)	Single nucleotide variant (missense variant)	RPGRIP1L-related condition +8 more	GConflicting classifications of pathogenicity
Select item 319662	NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile)	RPGRIP1L (M528I)	Single nucleotide variant (missense variant)	Joubert syndrome 7 +2 more	GUncertain significance
Select item 885589	NM_015272.5(RPGRIP1L):c.1521A>G (p.Gln507=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 886617	NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys)	RPGRIP1L (E458K)	Single nucleotide variant (missense variant)	Nephronophthisis 8 +2 more	GUncertain significance
Select item 126275	NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	Kidney disorder +6 more	GBenign/Likely benign
Select item 319663	NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His)	RPGRIP1L (R444H)	Single nucleotide variant (missense variant)	Nephronophthisis 8 +5 more	GUncertain significance
Select item 235423	NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)	RPGRIP1L (I389V)	Single nucleotide variant (missense variant)	RPGRIP1L-related condition +6 more	GConflicting classifications of pathogenicity

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