ClinVar for MedGen (Select 382940) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062239	NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)	CC2D2A (Y223fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 9	GLikely pathogenic
Select item 2671762	NM_001378615.1(CC2D2A):c.667G>A (p.Glu223Lys)	CC2D2A (E174K +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9	GUncertain significance
Select item 2430136	NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)	CC2D2A (W1302C +2 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9	GLikely pathogenic
Select item 1805718	NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)	CC2D2A (E855* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 9	GPathogenic
Select item 1525316	NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT	CC2D2A	Microsatellite (intron variant)	Retinitis pigmentosa 93 +5 more	GUncertain significance
Select item 1395827	NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)	CC2D2A (R1230* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 1353555	NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)	CC2D2A (E621D +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 1350225	NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val)	CC2D2A (E327V +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +5 more	GUncertain significance
Select item 1341717	NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys)	CC2D2A (E177K +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +4 more	GUncertain significance
Select item 1333691	NM_001378615.1(CC2D2A):c.4688C>G (p.Pro1563Arg)	CC2D2A (P1514R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1333661	NM_001378615.1(CC2D2A):c.2162C>T (p.Pro721Leu)	CC2D2A (P672L +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 1328011	NM_001378615.1(CC2D2A):c.4675-15G>A	CC2D2A	Single nucleotide variant (intron variant)	Meckel syndrome, type 6 +6 more	GLikely benign
Select item 1320112	NM_001378615.1(CC2D2A):c.4389A>C (p.Lys1463Asn)	CC2D2A (K1414N +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9	GUncertain significance
Select item 1318447	NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)	CC2D2A (D262G +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 93 +6 more	GConflicting classifications of pathogenicity
Select item 1317486	NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter)	CC2D2A (R1396* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 9 +3 more	GPathogenic/Likely pathogenic
Select item 1301572	NM_001378615.1(CC2D2A):c.3601G>A (p.Gly1201Arg)	CC2D2A (G1152R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285429	NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr)	CC2D2A (A1547T +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9	GLikely pathogenic
Select item 1192622	NM_001378615.1(CC2D2A):c.3595-55C>G	CC2D2A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1192540	NM_001378615.1(CC2D2A):c.40-122A>C	CC2D2A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1109803	NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 6 +5 more	GLikely benign
Select item 1071905	NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs)	CC2D2A (G1370fs +1 more)	Deletion (frameshift variant)	Meckel-Gruber syndrome +3 more	GPathogenic
Select item 1065787	NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs)	CC2D2A (Q1016fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 9	GLikely pathogenic
Select item 1061071	NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu)	CC2D2A (M100L +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +7 more	GUncertain significance
Select item 1042571	NM_001378615.1(CC2D2A):c.3643A>C (p.Ser1215Arg)	CC2D2A (S1166R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +2 more	GUncertain significance
Select item 1028538	NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr)	CC2D2A (P1054T +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +1 more	GUncertain significance
Select item 982522	NM_001378615.1(CC2D2A):c.[2803C>T];[934G>A]			Leber congenital amaurosis	GPathogenic
Select item 982521	NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)	CC2D2A (R886* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 9 +6 more	GPathogenic
Select item 982094	NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys)	CC2D2A (Y1282C +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +1 more	GConflicting classifications of pathogenicity
Select item 973861	NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs)	CC2D2A (R1022fs +1 more)	Deletion (frameshift variant)	COACH syndrome 1 +2 more	GLikely pathogenic
Select item 965184	NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val)	CC2D2A (A398V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +3 more	GUncertain significance
Select item 939875	NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg)	CC2D2A (Q616R +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +5 more	GUncertain significance
Select item 903154	NM_001378615.1(CC2D2A):c.2542A>G (p.Met848Val)	CC2D2A (M799V +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +1 more	GUncertain significance
Select item 903153	NM_001378615.1(CC2D2A):c.2516C>T (p.Ser839Phe)	CC2D2A (S790F +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +3 more	GConflicting classifications of pathogenicity
Select item 902800	NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu)	CC2D2A (P603L +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 902674	NM_001378615.1(CC2D2A):c.563C>T (p.Ala188Val)	CC2D2A (A188V +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +3 more	GConflicting classifications of pathogenicity
Select item 902673	NM_001378615.1(CC2D2A):c.451G>T (p.Val151Leu)	CC2D2A (V151L +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +1 more	GUncertain significance
Select item 902281	NM_001378615.1(CC2D2A):c.2487-6T>C	CC2D2A	Single nucleotide variant (intron variant)	Meckel syndrome, type 6 +1 more	GUncertain significance
Select item 901839	NM_001378615.1(CC2D2A):c.1018-11T>C	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +3 more	GConflicting classifications of pathogenicity
Select item 901705	NM_001378615.1(CC2D2A):c.4560T>C (p.Asn1520=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel syndrome, type 6 +1 more	GUncertain significance
Select item 901294	NM_001378615.1(CC2D2A):c.1859G>A (p.Ser620Asn)	CC2D2A (S620N +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +1 more	GUncertain significance
Select item 901217	NM_001080522.2(CC2D2A):c.*144A>C	CC2D2A	Single nucleotide variant	Joubert syndrome 9 +1 more	GUncertain significance
Select item 900906	NM_001378615.1(CC2D2A):c.258A>G (p.Pro86=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 900659	NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr)	CC2D2A (I912T +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related condition +4 more	GBenign/Likely benign
Select item 900132	NM_001378615.1(CC2D2A):c.1730C>T (p.Ser577Leu)	CC2D2A (S577L +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related condition +5 more	GConflicting classifications of pathogenicity
Select item 900062	NM_001378615.1(CC2D2A):c.*94T>C	CC2D2A	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 6 +1 more	GUncertain significance
Select item 899992	NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser)	CC2D2A (T1292S +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GUncertain significance
Select item 899917	NM_001378615.1(CC2D2A):c.3272A>T (p.Asp1091Val)	CC2D2A (D1042V +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +1 more	GUncertain significance
Select item 899751	NM_001378615.1(CC2D2A):c.-47G>A	CC2D2A	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 9 +1 more	GUncertain significance
Select item 899750	NM_001378615.1(CC2D2A):c.-87G>A	CC2D2A	Single nucleotide variant (5 prime UTR variant)	Meckel syndrome, type 6 +1 more	GConflicting classifications of pathogenicity
Select item 899525	NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp)	CC2D2A (G880D +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +4 more	GUncertain significance
Select item 870401	NM_001378615.1(CC2D2A):c.438+1G>T	CC2D2A	Single nucleotide variant (splice donor variant)	Joubert syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 863249	NM_001378615.1(CC2D2A):c.1702G>A (p.Ala568Thr)	CC2D2A (A568T +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 842440	NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln)	CC2D2A (R1022Q +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +2 more	GUncertain significance
Select item 839976	NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)	CC2D2A (R1109* +1 more)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 800823	NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys)	SMAD6 (R342C)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 9	GUncertain significance
Select item 800822	NM_033337.3(CAV3):c.302G>T (p.Trp101Leu)	OXTR, CAV3 (W101L)	Single nucleotide variant (missense variant)	Joubert syndrome 9	GUncertain significance
Select item 660284	NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg)	CC2D2A (G813R +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GUncertain significance
Select item 652726	NM_001378615.1(CC2D2A):c.650del (p.Gly217fs)	CC2D2A (G217fs +1 more)	Deletion (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic
Select item 637997	NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs)	CC2D2A (T1341fs +1 more)	Microsatellite (frameshift variant)	Joubert syndrome 9	GPathogenic
Select item 634561	NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu)	CC2D2A (F1281L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9	GUncertain significance
Select item 634449	NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys)	CC2D2A (E775K +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +4 more	GUncertain significance
Select item 597873	NM_001378615.1(CC2D2A):c.751G>A (p.Glu251Lys)	CC2D2A (E251K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 597815	NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu)	CC2D2A (A1059E +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +4 more	GUncertain significance
Select item 595728	NM_001378615.1(CC2D2A):c.2319C>T (p.Asp773=)	CC2D2A	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
Select item 595312	NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly)	CC2D2A (W854G +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +6 more	GUncertain significance
Select item 593430	NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)	CC2D2A (Q433fs +1 more)	Indel (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 587631	NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs)	CC2D2A (I1041fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 9 +2 more	GLikely pathogenic
Select item 581283	NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg)	CC2D2A (G1251R +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 579685	NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp)	CC2D2A (R1518W +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 547169	NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs)	CC2D2A (T196fs +1 more)	Duplication (frameshift variant)	Joubert syndrome 9	GLikely pathogenic
Select item 523401	NM_001378615.1(CC2D2A):c.1149+1G>A	CC2D2A	Single nucleotide variant (splice donor variant)	Polydactyly, postaxial, type A1 +8 more	GPathogenic/Likely pathogenic
Select item 506421	NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)	CC2D2A (F308L +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +6 more	GConflicting classifications of pathogenicity
Select item 502359	NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)	CC2D2A (C1413Y +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 501112	NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val)	CC2D2A (E606V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 498727	NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 497958	NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met)	CC2D2A (T649M +1 more)	Single nucleotide variant (missense variant)	COACH syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 493392	NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)	CC2D2A (E1000del +1 more)	Microsatellite (inframe_deletion)	Joubert syndrome 9 +7 more	GConflicting classifications of pathogenicity
Select item 430351	NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys)	CC2D2A (R324C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 429980	NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu)	CC2D2A (S875L +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +5 more	GUncertain significance
Select item 424729	NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]			Joubert syndrome 9	GLikely pathogenic
Select item 423722	NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg)	CC2D2A (G1295R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 421683	NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)	CC2D2A (V1290A +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +6 more	GConflicting classifications of pathogenicity
Select item 421347	NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)	CC2D2A (A1577T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 420965	NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His)	CC2D2A (R495H +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 392967	NM_001378615.1(CC2D2A):c.380G>A (p.Arg127Gln)	CC2D2A (R127Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 388321	NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=)	CC2D2A	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +5 more	GConflicting classifications of pathogenicity
Select item 347908	NM_001378615.1(CC2D2A):c.*45G>C	CC2D2A	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 9 +1 more	GUncertain significance
Select item 347907	NM_001378615.1(CC2D2A):c.4688C>T (p.Pro1563Leu)	CC2D2A (P1563L +1 more)	Single nucleotide variant (missense variant)	CC2D2A-Related Disorders +2 more	GUncertain significance
Select item 347906	NM_001378615.1(CC2D2A):c.4675-12T>G	CC2D2A	Single nucleotide variant (intron variant)	Meckel syndrome, type 6 +4 more	GConflicting classifications of pathogenicity
Select item 347905	NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His)	CC2D2A (Q1553H +1 more)	Single nucleotide variant (missense variant)	CC2D2A-Related Disorders +6 more	GUncertain significance
Select item 347904	NM_001378615.1(CC2D2A):c.4442A>C (p.Glu1481Ala)	CC2D2A (E1481A +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +2 more	GUncertain significance
Select item 347903	NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser)	CC2D2A (T1401S +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +4 more	GConflicting classifications of pathogenicity
Select item 347902	NM_001378615.1(CC2D2A):c.4098A>C (p.Glu1366Asp)	CC2D2A (E1366D +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GConflicting classifications of pathogenicity
Select item 347901	NM_001378615.1(CC2D2A):c.3670C>T (p.Arg1224Trp)	CC2D2A (R1224W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 347900	NM_001378615.1(CC2D2A):c.3524A>G (p.His1175Arg)	CC2D2A (H1175R +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +1 more	GUncertain significance
Select item 347899	NM_001378615.1(CC2D2A):c.3499G>A (p.Asp1167Asn)	CC2D2A (D1167N +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +1 more	GUncertain significance
Select item 347898	NM_001378615.1(CC2D2A):c.3399-15T>C	CC2D2A	Single nucleotide variant (intron variant)	Joubert syndrome 9 +4 more	GConflicting classifications of pathogenicity
Select item 347897	NM_001378615.1(CC2D2A):c.3398+13T>C	CC2D2A	Single nucleotide variant (intron variant)	Meckel syndrome, type 6 +1 more	GUncertain significance
Select item 347896	NM_001378615.1(CC2D2A):c.3398+7A>G	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
Select item 347894	NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu)	CC2D2A (S1067L +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 6 +5 more	GUncertain significance

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