ClinVar for MedGen (Select 1826007) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374951	NM_014875.3(KIF14):c.1712_1746+27del	KIF14	Deletion (splice donor variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 3366791	NC_000002.11:g.(?_110880924)_(110917833_110919179)del	NPHP1	Deletion	Joubert syndrome and related disorders	GPathogenic
Select item 3366760	NC_000008.10:g.(94817107_94821067)_(94821390_94822012)del	TMEM67	Deletion	Joubert syndrome and related disorders	GPathogenic
Select item 3366660	NM_015272.5(RPGRIP1L):c.2450A>G (p.Tyr817Cys)	RPGRIP1L (Y817C)	Single nucleotide variant (missense variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 3366636	NM_001082538.3(TCTN1):c.1114dup (p.Gln372fs)	TCTN1 (Q194fs +4 more)	Duplication (frameshift variant)	Joubert syndrome and related disorders	GPathogenic
Select item 3366415	NC_000006.11:g.(135732683_135748304)_(135751139_135752345)del	AHI1	Deletion	Joubert syndrome and related disorders	GPathogenic
Select item 3366411	NC_000002.11:g.(110881641_110883213)_(110962591_?)del	NPHP1	Deletion	Joubert syndrome and related disorders	GPathogenic
Select item 3366410	NC_000006.11:g.(135732683_135748304)_(135752453_135754164)del	AHI1	Deletion	Joubert syndrome and related disorders	GPathogenic
Select item 3366344	NM_015631.6(TCTN3):c.622dup (p.Tyr208fs)	TCTN3 (Y208fs)	Duplication (frameshift variant +1 more)	Joubert syndrome and related disorders	GPathogenic
Select item 3366343	NM_001082538.3(TCTN1):c.291C>A (p.Cys97Ter)	TCTN1 (C37* +2 more)	Single nucleotide variant (nonsense +2 more)	Joubert syndrome and related disorders	GPathogenic
Select item 3339968	NM_001082538.3(TCTN1):c.342-8A>G	TCTN1	Single nucleotide variant (intron variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 3339385	NM_153704.6(TMEM67):c.274G>A (p.Gly92Arg)	TMEM67 (G92R)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome and related disorders	GPathogenic
Select item 3068925	NM_001077418.3(TMEM231):c.538C>T (p.Gln180Ter)	TMEM231 (Q180* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome and related disorders	GPathogenic
Select item 3064004	NM_024809.5(TCTN2):c.1550dup (p.His517fs)	TCTN2 (H472fs +2 more)	Duplication (frameshift variant)	Joubert syndrome and related disorders	GPathogenic
Select item 3063950	NM_015631.6(TCTN3):c.615del (p.Ser206fs)	TCTN3 (S206fs)	Deletion (frameshift variant +1 more)	Joubert syndrome and related disorders	GPathogenic
Select item 2691706	NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)	TMEM67 (K729fs +1 more)	Deletion (frameshift variant +1 more)	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 2691679	NM_001384732.1(CPLANE1):c.1809_1811delinsCCAT (p.Tyr607fs)	CPLANE1 (Y607fs)	Indel (frameshift variant)	Joubert syndrome and related disorders	GPathogenic
Select item 2691565	NM_024809.5(TCTN2):c.1806dup (p.Thr603fs)	TCTN2 (T558fs +2 more)	Duplication (frameshift variant)	Joubert syndrome and related disorders	GPathogenic
Select item 2691290	NM_014704.4(CEP104):c.1232del (p.Gly411fs)	CEP104 (G411fs)	Deletion (frameshift variant)	Joubert syndrome and related disorders	GPathogenic
Select item 2637762	NM_001384732.1(CPLANE1):c.3176del (p.Pro1059fs)	CPLANE1 (P1059fs)	Deletion (frameshift variant)	Joubert syndrome and related disorders	GPathogenic
Select item 2581439	NM_001384732.1(CPLANE1):c.9097C>T (p.Gln3033Ter)	CPLANE1 (Q2979* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2581370	NM_001082538.3(TCTN1):c.1494+2T>C	TCTN1	Single nucleotide variant (splice donor variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2501263	NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)	B9D2 (A13fs)	Indel (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2501262	NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)	B9D2 (R75fs)	Insertion (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2501248	NC_000005.9:g.(37108574_37115061)_(37196099_37198803)dup	CPLANE1	Duplication	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2501247	NM_001384732.1(CPLANE1):c.1122-2A>G	CPLANE1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2501221	NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del	TMEM138	Deletion	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2501212	NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)	RPGRIP1L (S217*)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2501103	NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del	TCTN1	Deletion	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2501016	NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)	ARL13B (Q219* +3 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2445960	NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)	INPP5E	Indel (nonsense)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2445946	NC_000012.11:g.(124189236_124191272)_(124192951_?)del	TCTN2	Deletion	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2445937	NM_001128178.3(NPHP1):c.1083+1G>A	NPHP1	Single nucleotide variant (splice donor variant)	Joubert syndrome and related disorders +1 more	GLikely pathogenic
Select item 2445933	NM_153704.6(TMEM67):c.114del (p.Phe39fs)	TMEM67 (F39fs)	Deletion (5 prime UTR variant +2 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2445895	NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)	KIF14 (R249* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2445749	NM_001174150.2(ARL13B):c.59+1G>A	ARL13B	Single nucleotide variant (splice donor variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2445748	NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs)	CPLANE1 (K830fs)	Deletion (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2445737	NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)	AHI1 (W662*)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2429313	NC_000003.11:g.(132438675_132440806)_132441126del	NPHP3	Deletion	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2429283	NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)	CPLANE1 (Q674*)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2429249	NM_014875.3(KIF14):c.2765_2766del (p.Lys922fs)	KIF14 (K431fs +1 more)	Deletion (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2429248	NM_014875.3(KIF14):c.8dup (p.Leu3fs)	KIF14 (L3fs)	Duplication (5 prime UTR variant +1 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2429171	NM_001082538.2(TCTN1):c.1336_1339delACTG	TCTN1	Microsatellite (splice acceptor variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 2416723	NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)	NPHP3, NPHP3-ACAD11 (Q511*)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 2168890	NM_001134831.2(AHI1):c.101del (p.Lys34fs)	AHI1 (K34fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2147441	NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)	TMEM237 (W234* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders +1 more	GPathogenic/Likely pathogenic
Select item 2032736	NM_001134831.2(AHI1):c.3426+2T>C	AHI1	Single nucleotide variant (splice donor variant)	Joubert syndrome and related disorders +1 more	GLikely pathogenic
Select item 1878397	NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del	AHI1	Deletion	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1878385	NM_014704.4(CEP104):c.1485+1G>A	CEP104	Single nucleotide variant (splice donor variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1878361	NM_153704.6(TMEM67):c.223+1G>C	TMEM67	Single nucleotide variant (splice donor variant)	Joubert syndrome and related disorders +2 more	GLikely pathogenic
Select item 1878360	NM_153704.6(TMEM67):c.1132-2A>G	TMEM67	Single nucleotide variant (splice acceptor variant)	Joubert syndrome and related disorders +2 more	GLikely pathogenic
Select item 1878268	NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)	CPLANE1 (Q1723*)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1878226	NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)	AHI1 (E797fs)	Deletion (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1804871	NM_015272.5(RPGRIP1L):c.529+1688_609del	RPGRIP1L	Deletion (splice acceptor variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1804829	NM_001384732.1(CPLANE1):c.7234-2_7234del	CPLANE1	Deletion (splice acceptor variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1804668	NC_000002.11:g.(?_110880912)_(110886837_110889255)del	NPHP1	Deletion	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1723428	NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)	TMEM67 (G575fs +1 more)	Duplication (frameshift variant +1 more)	Joubert syndrome and related disorders +2 more	GPathogenic/Likely pathogenic
Select item 1723410	NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)	CPLANE1 (W1020fs)	Microsatellite (frameshift variant)	Joubert syndrome and related disorders +1 more	GPathogenic/Likely pathogenic
Select item 1723383	NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)	ARL13B	Deletion (nonsense +3 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1723370	NM_014704.4(CEP104):c.182del (p.Leu61fs)	CEP104 (L61fs)	Deletion (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1723347	NM_001244189.1(KIAA0586):c.2602_2612del11	KIAA0586	Deletion	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1723276	NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)	CEP104 (C54*)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1723240	NM_014704.4(CEP104):c.928dup (p.Ala310fs)	CEP104 (A310fs)	Duplication (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1722485	NM_001174150.2(ARL13B):c.801del (p.Asn267fs)	ARL13B (N160fs +3 more)	Deletion (frameshift variant +1 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1722459	NC_000012.11:g.(?_124155659)_(124184358_124189078)del	TCTN2	Deletion	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1722429	NM_014875.3(KIF14):c.1921dup (p.Ser641fs)	KIF14 (S150fs +1 more)	Duplication (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1722365	NM_001077418.3(TMEM231):c.279dup (p.Gly94fs)	TMEM231 (G147fs +1 more)	Duplication (frameshift variant +1 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1704628	NC_000003.11:g.93714775_(93722753_93754174)del	ARL13B	Deletion	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1704596	NM_001384732.1(CPLANE1):c.8471del (p.Phe2823_Leu2824insTer)	CPLANE1	Deletion (nonsense)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1704588	NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)	INPP5E (P585fs +1 more)	Deletion (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1704568	NM_014704.4(CEP104):c.2286del (p.Glu762fs)	CEP104 (E762fs)	Deletion (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1704492	NM_001128178.3(NPHP1):c.144-1G>A	NPHP1	Single nucleotide variant (intron variant +1 more)	Joubert syndrome with renal defect +2 more	GLikely pathogenic
Select item 1683370	NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys)	INPP5E (R584C +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GPathogenic/Likely pathogenic
Select item 1683369	NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter)	INPP5E (D536* +1 more)	Duplication (nonsense)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1683357	NM_001134831.2(AHI1):c.1671del (p.Gly558fs)	AHI1 (G558fs)	Deletion (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1683275	NM_001082538.3(TCTN1):c.1284del (p.Thr429fs)	TCTN1 (T251fs +3 more)	Deletion (frameshift variant +1 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1683273	NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter)	TMEM237 (W204* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1677239	NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs)	CEP104, LOC126805586 (Y623fs)	Deletion (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1677181	NM_153240.5(NPHP3):c.52del (p.Asp18fs)	LOC129937586, NPHP3 +2 more (D18fs)	Deletion (non-coding transcript variant +1 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1677126	NM_001134831.2(AHI1):c.917del (p.Lys306fs)	AHI1 (K306fs)	Deletion (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1677085	NM_019892.6(INPP5E):c.1224del (p.Ile409fs)	INPP5E (I409fs)	Deletion (frameshift variant)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1677067	NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del	RPGRIP1L	Deletion	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1484542	NM_015272.5(RPGRIP1L):c.2874+1G>C	RPGRIP1L	Single nucleotide variant (splice donor variant)	Familial aplasia of the vermis +2 more	GLikely pathogenic
Select item 1484531	NM_014875.3(KIF14):c.3661+1G>T	KIF14	Single nucleotide variant (splice donor variant)	KIF14-related disorder +2 more	GLikely pathogenic
Select item 1459489	NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)	RPGRIP1L (R747*)	Single nucleotide variant (nonsense)	Familial aplasia of the vermis +5 more	GPathogenic/Likely pathogenic
Select item 1453812	NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)	LOC130004408, TCTN3 (M1R)	Single nucleotide variant (missense variant +1 more)	Orofacial-digital syndrome IV +3 more	GPathogenic/Likely pathogenic
Select item 1453471	NM_001378615.1(CC2D2A):c.2999_3000inv (p.Glu1000Val)	CC2D2A (E1000V +1 more)	Inversion (missense variant)	Joubert syndrome and related disorders +2 more	GPathogenic/Likely pathogenic
Select item 1420657	NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)	TCTN3 (G314*)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 18 +2 more	GPathogenic
Select item 1406363	NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter)	KIAA0586 (R544* +6 more)	Single nucleotide variant (nonsense)	Joubert syndrome and related disorders +2 more	GPathogenic
Select item 1393536	NM_015631.6(TCTN3):c.338_341del (p.His113fs)	TCTN3 (H113fs)	Deletion (frameshift variant)	Joubert syndrome 18 +3 more	GPathogenic
Select item 1343749	NM_153240.5(NPHP3):c.187_194del (p.Gly63fs)	LOC129937586, NPHP3 +2 more (G63fs)	Deletion (non-coding transcript variant +1 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1343654	NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs)	CEP104 (T351fs)	Deletion (frameshift variant)	Joubert syndrome and related disorders +1 more	GPathogenic/Likely pathogenic
Select item 1343515	NM_001082538.3(TCTN1):c.712+1G>A	TCTN1	Single nucleotide variant (splice donor variant)	Meckel-Gruber syndrome +2 more	GLikely pathogenic
Select item 1329048	NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del	TCTN2	Deletion	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1309193	NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter)	CEP104 (Q335*)	Single nucleotide variant (nonsense)	Joubert syndrome 25 +1 more	GPathogenic/Likely pathogenic
Select item 1252093	NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +2 more	GPathogenic
Select item 1192252	NM_001077418.3(TMEM231):c.438+1G>C	TMEM231	Single nucleotide variant (splice donor variant)	Joubert syndrome 20 +2 more	GPathogenic/Likely pathogenic
Select item 1076045	NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter)	ARL13B (R311* +3 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome and related disorders +1 more	GConflicting classifications of pathogenicity
Select item 1075243	NM_001134831.2(AHI1):c.1983del (p.Trp662fs)	AHI1 (W662fs)	Deletion (frameshift variant)	Joubert syndrome and related disorders +1 more	GPathogenic
Select item 1068015	NM_015631.6(TCTN3):c.256+2_256+7del	LOC130004408, TCTN3	Deletion (splice donor variant)	not provided +3 more	GLikely pathogenic

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