C1854260[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 312779	NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr)	RPGRIP1 (I17T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 881317	NM_020366.4(RPGRIP1):c.77C>T (p.Ala26Val)	RPGRIP1 (A26V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 195356	NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)	RPGRIP1 (M32K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +2 more	GConflicting classifications of pathogenicity
Select item 881764	NM_020366.4(RPGRIP1):c.116G>A (p.Ser39Asn)	RPGRIP1 (S39N)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +2 more	GUncertain significance
Select item 881765	NM_020366.4(RPGRIP1):c.127C>T (p.Arg43Trp)	RPGRIP1 (R43W)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +2 more	GUncertain significance
Select item 312780	NM_020366.4(RPGRIP1):c.218+13C>G	RPGRIP1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 99816	NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp)	RPGRIP1 (R86W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +3 more	GBenign/Likely benign
Select item 882914	NM_020366.4(RPGRIP1):c.262C>T (p.Leu88=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 99819	NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln)	RPGRIP1 (P96Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 312781	NM_020366.4(RPGRIP1):c.310G>C (p.Gly104Arg)	RPGRIP1 (G104R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 861300	NM_020366.4(RPGRIP1):c.386A>T (p.His129Leu)	RPGRIP1 (H129L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 283572	NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=)	RPGRIP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 841666	NM_020366.4(RPGRIP1):c.491-3T>C	RPGRIP1	Single nucleotide variant (intron variant)	RPGRIP1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 883711	NM_020366.4(RPGRIP1):c.505C>T (p.Leu169=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 99826	NM_020366.4(RPGRIP1):c.525A>G (p.Pro175=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +3 more	GBenign
Select item 285108	NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly)	RPGRIP1 (A181G)	Single nucleotide variant (missense variant)	RPGRIP1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 99827	NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu)	RPGRIP1 (K192E)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +3 more	GBenign
Select item 312782	NM_020366.4(RPGRIP1):c.640A>C (p.Lys214Gln)	RPGRIP1 (K214Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 312783	NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val)	RPGRIP1 (M220V)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GConflicting classifications of pathogenicity
Select item 881816	NM_020366.4(RPGRIP1):c.846C>T (p.Leu282=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GConflicting classifications of pathogenicity
Select item 881817	NM_020366.4(RPGRIP1):c.907G>A (p.Ala303Thr)	RPGRIP1 (A303T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 312784	NM_020366.4(RPGRIP1):c.912C>T (p.Tyr304=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 379572	NM_020366.4(RPGRIP1):c.930+3A>G	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +4 more	GConflicting classifications of pathogenicity
Select item 573467	NM_020366.4(RPGRIP1):c.938G>A (p.Gly313Glu)	RPGRIP1 (G313E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +2 more	GUncertain significance
Select item 312785	NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe)	RPGRIP1 (L353F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 312786	NM_020366.4(RPGRIP1):c.1077+13A>G	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 708095	NM_020366.4(RPGRIP1):c.1078-9C>A	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GConflicting classifications of pathogenicity
Select item 312787	NM_020366.4(RPGRIP1):c.1197C>T (p.Asn399=)	RPGRIP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 312788	NM_020366.4(RPGRIP1):c.1200G>A (p.Glu400=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 883767	NM_020366.4(RPGRIP1):c.1208C>T (p.Ala403Val)	RPGRIP1 (A403V +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 312789	NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GConflicting classifications of pathogenicity
Select item 881429	NM_020366.4(RPGRIP1):c.1506C>A (p.Ser502=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 312790	NM_020366.4(RPGRIP1):c.1506C>T (p.Ser502=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 4987	NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)	RPGRIP1 (A547S +2 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1 +4 more	GBenign/Likely benign
Select item 283795	NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)	RPGRIP1 (P585S +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 381682	NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His)	RPGRIP1 (Q589H +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +3 more	GBenign/Likely benign
Select item 235620	NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln)	RPGRIP1 (R598Q +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 1 +4 more	GBenign/Likely benign
Select item 99812	NM_020366.4(RPGRIP1):c.1797G>A (p.Pro599=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 261226	NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 312791	NM_020366.4(RPGRIP1):c.1921G>A (p.Ala641Thr)	RPGRIP1 (A641T +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 6 +2 more	GUncertain significance
Select item 883035	NM_020366.4(RPGRIP1):c.2063C>T (p.Ser688Leu)	RPGRIP1 (S688L +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 261227	NM_020366.4(RPGRIP1):c.2215+7G>A	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +3 more	GBenign
Select item 285038	NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +4 more	GConflicting classifications of pathogenicity
Select item 465954	NM_020366.4(RPGRIP1):c.2292G>A (p.Ala764=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +1 more	GBenign
Select item 566311	NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter)	RPGRIP1 (R768* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 312792	NM_020366.4(RPGRIP1):c.2331C>T (p.Thr777=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 312793	NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +1 more	GConflicting classifications of pathogenicity
Select item 502550	NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +2 more	GConflicting classifications of pathogenicity
Select item 497540	NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile)	RPGRIP1 (T806I +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 1 +3 more	GBenign/Likely benign
Select item 707141	NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln)	RPGRIP1 (R812Q +1 more)	Single nucleotide variant (missense variant +1 more)	RPGRIP1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 881492	NM_020366.4(RPGRIP1):c.2441G>T (p.Arg814Leu)	RPGRIP1 (R456L +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 881493	NM_020366.4(RPGRIP1):c.2480G>A (p.Arg827His)	RPGRIP1 (R469H +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 881935	NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly)	RPGRIP1 (A479G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 772050	NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +1 more	GConflicting classifications of pathogenicity
Select item 95948	NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln)	RPGRIP1 (R852Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 312794	NM_020366.4(RPGRIP1):c.2618A>G (p.His873Arg)	RPGRIP1 (H873R +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +2 more	GUncertain significance
Select item 632211	NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter)	RPGRIP1 (R888* +1 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 6 +3 more	GConflicting classifications of pathogenicity
Select item 883114	NM_020366.4(RPGRIP1):c.2663G>A (p.Arg888Gln)	RPGRIP1 (R530Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +2 more	GUncertain significance
Select item 312795	NM_020366.4(RPGRIP1):c.2700A>C (p.Glu900Asp)	RPGRIP1 (E900D +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 883115	NM_020366.4(RPGRIP1):c.2710+11G>A	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GConflicting classifications of pathogenicity
Select item 883892	NM_020366.4(RPGRIP1):c.2878G>T (p.Ala960Ser)	RPGRIP1 (A602S +4 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 534365	NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro)	RPGRIP1 (A960P +4 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GConflicting classifications of pathogenicity
Select item 312796	NM_020366.4(RPGRIP1):c.2924T>C (p.Ile975Thr)	RPGRIP1 (I975T +4 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 312797	NM_020366.4(RPGRIP1):c.3055A>T (p.Met1019Leu)	RPGRIP1 (M1019L +4 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 312798	NM_020366.4(RPGRIP1):c.3064C>T (p.Leu1022Phe)	RPGRIP1 (L1022F +4 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 261228	NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln)	RPGRIP1 (E1033Q +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 767015	NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GConflicting classifications of pathogenicity
Select item 880599	NM_020366.4(RPGRIP1):c.3221C>G (p.Pro1074Arg)	RPGRIP1 (P1074R +5 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 880600	NM_020366.4(RPGRIP1):c.3239-14C>T	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GConflicting classifications of pathogenicity
Select item 882015	NM_020366.4(RPGRIP1):c.3291C>T (p.Asp1097=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 261229	NM_020366.4(RPGRIP1):c.3340-15C>T	RPGRIP1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 4988	NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)	RPGRIP1 (D1114G +4 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +3 more	GBenign/Likely benign
Select item 100589	NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val)	RPGRIP1 (I1120V +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 312799	NM_020366.4(RPGRIP1):c.3444C>G (p.Phe1148Leu)	RPGRIP1 (F1148L +4 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 99820	NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +3 more	GBenign/Likely benign
Select item 883179	NM_020366.4(RPGRIP1):c.3570G>T (p.Arg1190Ser)	RPGRIP1 (R832S +4 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 883180	NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp)	RPGRIP1 (R553W +4 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GConflicting classifications of pathogenicity
Select item 312800	NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu)	RPGRIP1 (G1240E +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 312801	NM_020366.4(RPGRIP1):c.3748+17dup	RPGRIP1	Duplication (intron variant)	Leber congenital amaurosis +3 more	GConflicting classifications of pathogenicity
Select item 883958	NM_020366.4(RPGRIP1):c.3760G>A (p.Glu1254Lys)	RPGRIP1 (E1254K +4 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 883959	NM_020366.4(RPGRIP1):c.3779T>C (p.Ile1260Thr)	RPGRIP1 (I622T +4 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 883960	NM_020366.4(RPGRIP1):c.3787C>A (p.Leu1263Met)	RPGRIP1 (L1263M +4 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 312802	NM_020366.4(RPGRIP1):c.3814G>A (p.Val1272Ile)	RPGRIP1 (V1272I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 261225	NM_020366.4(RPGRIP1):c.*10T>C	RPGRIP1	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GBenign/Likely benign
Select item 312803	NM_020366.4(RPGRIP1):c.*44T>C	RPGRIP1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 880670	NM_020366.4(RPGRIP1):c.*76A>G	RPGRIP1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 312804	NM_020366.4(RPGRIP1):c.*81A>G	RPGRIP1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 87