C0265215[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 284645	NM_153240.5(NPHP3):c.1525-5del	NPHP3, NPHP3-ACAD11	Deletion (intron variant)	Renal-hepatic-pancreatic dysplasia 1 +4 more	GConflicting classifications of pathogenicity
Select item 93531	NM_001378615.1(CC2D2A):c.124-6C>T	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +5 more	GBenign
Select item 126229	NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)	CC2D2A (R88*)	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +6 more	GBenign
Select item 126242	NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)	CC2D2A (R132* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
Select item 56315	NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)	CC2D2A (R173* +1 more)	Single nucleotide variant (nonsense)	Meckel syndrome, type 6 +2 more	GPathogenic
Select item 126247	NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys)	CC2D2A (E241K +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GBenign/Likely benign
Select item 257395	NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)	CC2D2A	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 126248	NM_001378615.1(CC2D2A):c.777C>T (p.His259=)	CC2D2A	Single nucleotide variant (genic downstream transcript variant +1 more)	Meckel-Gruber syndrome +4 more	GBenign
Select item 1121461	NM_001378615.1(CC2D2A):c.784G>A (p.Asp262Asn)	CC2D2A (D213N +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 210613	NM_001378615.1(CC2D2A):c.891T>C (p.Tyr297=)	CC2D2A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 126227	NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala)	CC2D2A (E376A +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +5 more	GBenign
Select item 56297	NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs)	CC2D2A (A398fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 126228	NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu)	CC2D2A (K507E +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +5 more	GConflicting classifications of pathogenicity
Select item 2165571	NM_001378615.1(CC2D2A):c.1691C>A (p.Thr564Lys)	CC2D2A (T515K +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder +2 more	GUncertain significance
Select item 210608	NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile)	CC2D2A (V660I +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 194716	NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)	CC2D2A (V660L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 93532	NM_001378615.1(CC2D2A):c.2003+19C>T	CC2D2A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 194819	NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile)	CC2D2A (L684I +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 194818	NM_001378615.1(CC2D2A):c.2181+7A>C	CC2D2A	Single nucleotide variant (intron variant)	CC2D2A-related disorder +8 more	GBenign/Likely benign
Select item 210609	NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)	CC2D2A (Q895* +1 more)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +6 more	GPathogenic/Likely pathogenic
Select item 126234	NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)	CC2D2A (R935Q +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 126236	NM_001378615.1(CC2D2A):c.3183-8T>C	CC2D2A	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +5 more	GBenign
Select item 126237	NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +5 more	GBenign
Select item 56303	NM_001080522.2(CC2D2A):c.3289delG	CC2D2A	Deletion (splice acceptor variant)	See cases +6 more	GPathogenic
Select item 126240	NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys)	CC2D2A (R1170K +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +5 more	GBenign/Likely benign
Select item 210610	NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)	CC2D2A (I1291T +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 56312	NM_001378615.1(CC2D2A):c.4179+1del	CC2D2A	Deletion (splice donor variant)	Joubert syndrome 9 +17 more	GPathogenic
Select item 210611	NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)	CC2D2A	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 126244	NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)	CC2D2A (W1462R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 126245	NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg)	CC2D2A (S1469R +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +1 more	GConflicting classifications of pathogenicity
Select item 238281	NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)	CC2D2A (R1487C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 210612	NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)	CC2D2A (D1440fs)	Deletion (frameshift variant)	Meckel-Gruber syndrome +3 more	GPathogenic/Likely pathogenic
Select item 100674	NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)	CSPP1 (E405fs +6 more)	Deletion (frameshift variant)	Joubert syndrome 21 +1 more	GPathogenic
Select item 212409	NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)	TMEM67 (K99N)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 6 +3 more	GConflicting classifications of pathogenicity
Select item 56783	NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	TMEM67 (G195fs +1 more)	Deletion (frameshift variant +1 more)	Meckel syndrome, type 3 +6 more	GPathogenic/Likely pathogenic
Select item 1376	NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	TMEM67 (R208* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 11 +11 more	GPathogenic
Select item 126306	NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg)	TMEM67 (G169R +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +1 more	GPathogenic/Likely pathogenic
Select item 126307	NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)	TMEM67 (D180N +1 more)	Single nucleotide variant (missense variant +1 more)	COACH syndrome 1 +9 more	GBenign/Likely benign
Select item 56762	NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	TMEM67 (L268S +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 96528	NM_153704.6(TMEM67):c.1066-3C>T	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +7 more	GBenign
Select item 126299	NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)	TMEM67 (L356V +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +4 more	GConflicting classifications of pathogenicity
Select item 56764	NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)	TMEM67 (R359Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
Select item 521968	NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr)	TMEM67 (A491T +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +4 more	GConflicting classifications of pathogenicity
Select item 126301	NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val)	TMEM67 (I523V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +7 more	GBenign
Select item 126302	NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)	TMEM67 (P640S +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +6 more	GConflicting classifications of pathogenicity
Select item 126304	NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Kidney disorder +10 more	GBenign/Likely benign
Select item 96529	NM_153704.6(TMEM67):c.2892A>C (p.Thr964=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +6 more	GBenign
Select item 391224	NM_025114.4(CEP290):c.6960+10G>A	CEP290	Single nucleotide variant (intron variant)	Meckel syndrome, type 4 +8 more	GBenign/Likely benign
Select item 143156	NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	CEP290 (S2263G)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 216769	NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr)	CEP290 (H2183Y)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 197574	NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)	CEP290 (L2151S)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 166829	NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)	CEP290 (I2134T)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +9 more	GConflicting classifications of pathogenicity
Select item 126266	NM_025114.4(CEP290):c.6357+20A>T	CEP290, LOC129390514	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +3 more	GBenign
Select item 1337174	NM_025114.4(CEP290):c.6346C>T (p.His2116Tyr)	CEP290, LOC129390514 (H2116Y)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 1337419	NM_025114.4(CEP290):c.6299G>A (p.Cys2100Tyr)	CEP290, LOC129390514 (C2100Y)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 217621	NM_025114.4(CEP290):c.6277del (p.Val2093fs)	LOC129390514, CEP290	Deletion (frameshift variant)	Senior-Loken syndrome 6 +8 more	GPathogenic/Likely pathogenic
Select item 1101437	NM_025114.4(CEP290):c.6120A>G (p.Thr2040=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 210697	NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala)	CEP290 (T1966A)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 126263	NM_025114.4(CEP290):c.5709+18C>A	CEP290	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +3 more	GBenign
Select item 1333	NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	CEP290 (G1890*)	Single nucleotide variant (nonsense)	Nephronophthisis +13 more	GPathogenic/Likely pathogenic
Select item 197085	NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	CEP290	Single nucleotide variant (synonymous variant)	CEP290-related disorder +11 more	GConflicting classifications of pathogenicity
Select item 881296	NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)	CEP290 (R1762H)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 126262	NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)	CEP290 (R1746Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +11 more	GBenign/Likely benign
Select item 210696	NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe)	CEP290 (L1581F)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 126260	NM_025114.4(CEP290):c.4621del (p.Thr1541fs)	CEP290 (T1541fs)	Deletion (frameshift variant)	Familial aplasia of the vermis +7 more	GPathogenic/Likely pathogenic
Select item 698529	NM_025114.4(CEP290):c.4578G>A (p.Glu1526=)	CEP290	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +8 more	GLikely benign
Select item 285948	NM_025114.4(CEP290):c.4437+1G>A	CEP290	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 6 +9 more	GPathogenic/Likely pathogenic
Select item 217626	NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	CEP290 (R1465*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 10 +9 more	GPathogenic
Select item 96172	NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)	CEP290 (D1413H)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 210695	NM_025114.4(CEP290):c.4215G>A (p.Met1405Ile)	CEP290 (M1405I)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 126258	NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)	CEP290	Single nucleotide variant (synonymous variant)	not specified +10 more	GBenign/Likely benign
Select item 196795	NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)	CEP290 (D1368N)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 126257	NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)	CEP290 (R1237H)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign
Select item 196714	NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)	CEP290	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 14 +10 more	GConflicting classifications of pathogenicity
Select item 434739	NM_025114.4(CEP290):c.3626C>G (p.Ser1209Cys)	CEP290 (S1209C)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GUncertain significance
Select item 126255	NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)	CEP290 (L1148V)	Single nucleotide variant (missense variant)	CEP290-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 210694	NM_025114.4(CEP290):c.3408A>G (p.Gln1136=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 99850	NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)	CEP290 (I1059fs)	Duplication (frameshift variant)	CEP290-related disorder +6 more	GPathogenic
Select item 195989	NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)	CEP290 (E994K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 14 +10 more	GConflicting classifications of pathogenicity
Select item 126252	NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)	CEP290 (L906W)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +9 more	GBenign
Select item 1142576	NM_025114.4(CEP290):c.2533A>C (p.Arg845=)	CEP290	Single nucleotide variant (synonymous variant)	Retinal dystrophy +4 more	GLikely benign
Select item 100593	NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)	CEP290 (K838E)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +10 more	GBenign
Select item 195836	NM_025114.4(CEP290):c.2487A>G (p.Glu829=)	CEP290	Single nucleotide variant (synonymous variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 220050	NM_025114.4(CEP290):c.2484-18GTTTT[4]	CEP290	Microsatellite (intron variant)	Renal dysplasia and retinal aplasia +7 more	GConflicting classifications of pathogenicity
Select item 210693	NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys)	CEP290 (R816C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 1961309	NM_025114.4(CEP290):c.2427C>G (p.Asn809Lys)	CEP290 (N809K)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 126249	NM_025114.4(CEP290):c.2268A>G (p.Ser756=)	CEP290	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +7 more	GBenign
Select item 96168	NM_025114.4(CEP290):c.2055T>C (p.Ala685=)	CEP290	Single nucleotide variant (synonymous variant)	not provided +10 more	GBenign
Select item 100592	NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)	CEP290 (D664G)	Single nucleotide variant (missense variant)	not specified +11 more	GBenign
Select item 194894	NM_025114.4(CEP290):c.1716A>G (p.Leu572=)	CEP290	Single nucleotide variant (synonymous variant)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 261827	NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu)	CEP290 (F520L)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +9 more	GConflicting classifications of pathogenicity
Select item 194563	NM_025114.4(CEP290):c.1522+6C>T	CEP290	Single nucleotide variant (intron variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 434742	NM_025114.4(CEP290):c.1517G>A (p.Arg506His)	CEP290 (R506H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 210692	NM_025114.4(CEP290):c.1440A>G (p.Glu480=)	CEP290	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 261825	NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)	CEP290 (D433G)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +9 more	GConflicting classifications of pathogenicity
Select item 56729	NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	CEP290 (M407fs)	Microsatellite (frameshift variant)	CEP290-related disorder +10 more	GPathogenic
Select item 166838	NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	CEP290 (R360Q)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 1126542	NM_025114.4(CEP290):c.853-9G>A	CEP290	Single nucleotide variant (intron variant)	Nephronophthisis +3 more	GConflicting classifications of pathogenicity
Select item 126269	NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)	CEP290 (E277Q)	Single nucleotide variant (missense variant)	Meckel syndrome, type 4 +10 more	GBenign/Likely benign
Select item 434741	NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)	CEP290 (D272N)	Single nucleotide variant (missense variant)	not specified +10 more	GUncertain significance

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