ClinVar for MedGen (Select 1769861) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3892667	NM_153704.6(TMEM67):c.2104G>A (p.Val702Met)	TMEM67 (V702M +1 more)	Single nucleotide variant (missense variant +1 more)	COACH syndrome 1 +5 more	GUncertain significance
Select item 3780717	NM_153704.6(TMEM67):c.2242-2A>T	TMEM67	Single nucleotide variant (splice acceptor variant)	COACH syndrome 1 +3 more	GLikely pathogenic
Select item 3777090	NM_153704.6(TMEM67):c.2822T>A (p.Ile941Asn)	TMEM67 (I860N +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +3 more	GUncertain significance
Select item 3596008	NM_153704.6(TMEM67):c.2959del (p.Thr987fs)	TMEM67 (T987fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3596007	NM_153704.6(TMEM67):c.2783G>C (p.Ser928Thr)	TMEM67 (S928T +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3596005	NM_153704.6(TMEM67):c.2644G>C (p.Gly882Arg)	TMEM67 (G801R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3596004	NM_153704.6(TMEM67):c.2633A>G (p.Asn878Ser)	TMEM67 (N797S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3596003	NM_153704.6(TMEM67):c.2611A>G (p.Ile871Val)	TMEM67 (I871V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3596002	NM_153704.6(TMEM67):c.2556+5G>T	TMEM67	Single nucleotide variant (intron variant)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3596000	NM_153704.6(TMEM67):c.2553A>G (p.Ile851Met)	TMEM67 (I770M +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595999	NM_153704.6(TMEM67):c.2525A>G (p.His842Arg)	TMEM67 (H761R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595998	NM_153704.6(TMEM67):c.2474A>G (p.Asn825Ser)	TMEM67 (N744S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595997	NM_153704.6(TMEM67):c.2447T>C (p.Leu816Ser)	TMEM67 (L816S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595996	NM_153704.6(TMEM67):c.2437G>T (p.Ala813Ser)	TMEM67 (A813S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595995	NM_153704.6(TMEM67):c.2424C>G (p.Asn808Lys)	TMEM67 (N727K +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595994	NM_153704.6(TMEM67):c.2197T>C (p.Tyr733His)	TMEM67 (Y733H +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595993	NM_153704.6(TMEM67):c.2184C>A (p.Ser728Arg)	TMEM67 (S647R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595991	NM_153704.6(TMEM67):c.1991del (p.Pro664fs)	TMEM67 (P583fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 6 +5 more	GLikely pathogenic
Select item 3595990	NM_153704.6(TMEM67):c.1954G>C (p.Val652Leu)	TMEM67 (V571L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595989	NM_153704.6(TMEM67):c.1940A>G (p.Lys647Arg)	TMEM67 (K566R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595988	NM_153704.6(TMEM67):c.1903G>A (p.Asp635Asn)	TMEM67 (D554N +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595986	NM_153704.6(TMEM67):c.1900A>G (p.Ile634Val)	TMEM67 (I553V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595985	NM_153704.6(TMEM67):c.1860+1G>A	TMEM67	Single nucleotide variant (splice donor variant)	Joubert syndrome 6 +5 more	GLikely pathogenic
Select item 3595984	NM_153704.6(TMEM67):c.1774G>T (p.Ala592Ser)	TMEM67 (A511S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595983	NM_153704.6(TMEM67):c.1773+7_1773+10dup	TMEM67	Microsatellite	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595982	NM_153704.6(TMEM67):c.1737A>G (p.Thr579=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595980	NM_153704.6(TMEM67):c.1675-1G>A	TMEM67	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 6 +5 more	GLikely pathogenic
Select item 3595979	NM_153704.6(TMEM67):c.1513G>C (p.Val505Leu)	TMEM67 (V424L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595977	NM_153704.6(TMEM67):c.1489A>C (p.Ile497Leu)	TMEM67 (I497L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595976	NM_153704.6(TMEM67):c.1414G>A (p.Val472Ile)	TMEM67 (V391I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595975	NM_153704.6(TMEM67):c.1412+1G>T	TMEM67	Single nucleotide variant (splice donor variant)	Joubert syndrome 6 +5 more	GLikely pathogenic
Select item 3595973	NM_153704.6(TMEM67):c.1318C>G (p.Arg440Gly)	TMEM67 (R359G +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GLikely pathogenic
Select item 3595972	NM_153704.6(TMEM67):c.1289-7A>G	TMEM67	Single nucleotide variant (intron variant)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595971	NM_153704.6(TMEM67):c.1234G>C (p.Ala412Pro)	TMEM67 (A331P +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595970	NM_153704.6(TMEM67):c.1123C>T (p.Gln375Ter)	TMEM67 (Q375* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 6 +5 more	GLikely pathogenic
Select item 3595969	NM_153704.6(TMEM67):c.1085C>A (p.Thr362Lys)	TMEM67 (T362K +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595968	NM_153704.6(TMEM67):c.983C>G (p.Thr328Arg)	TMEM67 (T247R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595967	NM_153704.6(TMEM67):c.929T>A (p.Leu310His)	TMEM67 (L229H +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595966	NM_153704.6(TMEM67):c.906G>C (p.Gln302His)	TMEM67 (Q302H +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595965	NM_153704.6(TMEM67):c.870-11del	TMEM67	Deletion (intron variant)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595964	NM_153704.6(TMEM67):c.856T>C (p.Ser286Pro)	TMEM67 (S286P +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595963	NM_153704.6(TMEM67):c.838G>C (p.Gly280Arg)	TMEM67 (G199R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595962	NM_153704.6(TMEM67):c.773A>G (p.Asn258Ser)	TMEM67 (N177S +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595961	NM_153704.6(TMEM67):c.746T>C (p.Leu249Pro)	TMEM67 (L168P +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595959	NM_153704.6(TMEM67):c.637C>T (p.Arg213Cys)	TMEM67 (R213C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +7 more	GPathogenic/Likely pathogenic
Select item 3595957	NM_153704.6(TMEM67):c.538del (p.Thr180fs)	TMEM67 (T180fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 6 +5 more	GLikely pathogenic
Select item 3595956	NM_153704.6(TMEM67):c.363A>C (p.Leu121Phe)	TMEM67 (L121F)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595955	NM_153704.6(TMEM67):c.316G>A (p.Gly106Ser)	TMEM67 (G106S)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595954	NM_153704.6(TMEM67):c.313-2A>G	TMEM67	Single nucleotide variant (intron variant +1 more)	Joubert syndrome 6 +5 more	GLikely pathogenic
Select item 3595953	NM_153704.6(TMEM67):c.312+1G>A	TMEM67	Single nucleotide variant (intron variant +1 more)	Joubert syndrome 6 +5 more	GLikely pathogenic
Select item 3595952	NM_153704.6(TMEM67):c.223+4A>G	TMEM67	Single nucleotide variant (intron variant)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595951	NM_153704.6(TMEM67):c.190C>T (p.Pro64Ser)	TMEM67 (P64S)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 3595950	NM_153704.6(TMEM67):c.103C>T (p.Gln35Ter)	TMEM67 (Q35*)	Single nucleotide variant (nonsense +2 more)	Joubert syndrome 6 +5 more	GLikely pathogenic
Select item 3384160	NM_001378615.1(CC2D2A):c.[1880G>A;2206A>T]	CC2D2A (R627Q +3 more)	Single nucleotide variant (missense variant)	COACH syndrome 1 +2 more	GUncertain significance
Select item 3065199	NM_153704.6(TMEM67):c.232T>G (p.Cys78Gly)	TMEM67 (C78G)	Single nucleotide variant (missense variant +2 more)	COACH syndrome 1	GUncertain significance
Select item 2932474	NM_153704.6(TMEM67):c.371A>C (p.Glu124Ala)	TMEM67 (E124A)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +7 more	GConflicting classifications of pathogenicity
Select item 2926779	NM_153704.6(TMEM67):c.2764+2T>G	TMEM67	Single nucleotide variant (splice donor variant)	Meckel-Gruber syndrome +7 more	GLikely pathogenic
Select item 2925437	NM_153704.6(TMEM67):c.1285C>T (p.Gln429Ter)	TMEM67 (Q348* +1 more)	Single nucleotide variant (nonsense +1 more)	Meckel-Gruber syndrome +7 more	GPathogenic
Select item 2924445	NM_153704.6(TMEM67):c.2287A>G (p.Ile763Val)	TMEM67 (I682V +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 2691706	NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)	TMEM67 (K729fs +1 more)	Deletion (frameshift variant +1 more)	Nephronophthisis 11 +8 more	GPathogenic/Likely pathogenic
Select item 2571713	NM_153704.6(TMEM67):c.1942G>T (p.Val648Phe)	TMEM67 (V567F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 2431230	NM_153704.6(TMEM67):c.329A>G (p.Asp110Gly)	TMEM67 (D110G)	Single nucleotide variant (5 prime UTR variant +2 more)	TMEM67-related disorder +8 more	GPathogenic/Likely pathogenic
Select item 2431214	NM_153704.6(TMEM67):c.2758del (p.Tyr920fs)	TMEM67 (Y839fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 6 +5 more	GPathogenic
Select item 2415663	NM_153704.6(TMEM67):c.2165G>C (p.Ser722Thr)	TMEM67 (S641T +1 more)	Single nucleotide variant (missense variant +1 more)	RHYNS syndrome +7 more	GUncertain significance
Select item 2280599	NM_153704.6(TMEM67):c.2193G>C (p.Leu731Phe)	TMEM67 (L650F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GUncertain significance
Select item 2178475	NM_153704.6(TMEM67):c.2521C>T (p.Gln841Ter)	TMEM67 (Q841* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome +7 more	GPathogenic/Likely pathogenic
Select item 2176595	NM_153704.6(TMEM67):c.148G>T (p.Asp50Tyr)	TMEM67 (D50Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome +7 more	GUncertain significance
Select item 2164111	NM_153704.6(TMEM67):c.2660A>G (p.His887Arg)	TMEM67 (H806R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome +7 more	GUncertain significance
Select item 2138235	NM_153704.6(TMEM67):c.1893G>C (p.Gln631His)	TMEM67 (Q631H +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +8 more	GUncertain significance
Select item 2093297	NM_153704.6(TMEM67):c.869+1G>C	TMEM67	Single nucleotide variant (splice donor variant)	Meckel syndrome, type 3 +7 more	GLikely pathogenic
Select item 1956073	NM_153704.6(TMEM67):c.124C>G (p.Pro42Ala)	TMEM67 (P42A)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 14 +7 more	GUncertain significance
Select item 1941044	NM_153704.6(TMEM67):c.1093A>G (p.Asn365Asp)	TMEM67 (N284D +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 14 +7 more	GUncertain significance
Select item 1927645	NM_153704.6(TMEM67):c.56C>A (p.Ala19Asp)	TMEM67 (A19D)	Single nucleotide variant (non-coding transcript variant +2 more)	Bardet-Biedl syndrome 14 +7 more	GUncertain significance
Select item 1904242	NM_153704.6(TMEM67):c.1264C>T (p.His422Tyr)	TMEM67 (H422Y +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 14 +7 more	GUncertain significance
Select item 1901754	NM_153704.6(TMEM67):c.1376C>A (p.Pro459Gln)	TMEM67 (P459Q +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 14 +7 more	GUncertain significance
Select item 1804646	NM_153704.6(TMEM67):c.1847C>A (p.Ala616Asp)	TMEM67 (A535D +1 more)	Single nucleotide variant (missense variant +1 more)	COACH syndrome 1	GLikely pathogenic
Select item 1801712	NM_153704.6(TMEM67):c.1241C>G (p.Pro414Arg)	TMEM67 (P333R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +5 more	GUncertain significance
Select item 1698069	NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys)	TMEM67 (W265C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 1691287	NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)	TMEM67 (F160fs +1 more)	Deletion (frameshift variant +1 more)	Meckel syndrome, type 3 +5 more	GPathogenic/Likely pathogenic
Select item 1653180	NM_153704.6(TMEM67):c.2439+17C>T	TMEM67	Single nucleotide variant (intron variant)	COACH syndrome 1 +7 more	GLikely benign
Select item 1651748	NM_153704.6(TMEM67):c.780C>T (p.Tyr260=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	COACH syndrome 1 +7 more	GLikely benign
Select item 1646977	NM_153704.6(TMEM67):c.312+13T>C	TMEM67	Single nucleotide variant (intron variant)	COACH syndrome 1 +7 more	GLikely benign
Select item 1636115	NM_153704.6(TMEM67):c.1401A>G (p.Gln467=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	COACH syndrome 1 +7 more	GLikely benign
Select item 1629434	NM_153704.6(TMEM67):c.577-6A>G	TMEM67	Single nucleotide variant (intron variant)	Joubert syndrome +8 more	GLikely benign
Select item 1616728	NM_153704.6(TMEM67):c.979-16C>T	TMEM67	Single nucleotide variant (intron variant)	Nephronophthisis 11 +7 more	GLikely benign
Select item 1610766	NM_153704.6(TMEM67):c.406+12A>T	TMEM67	Single nucleotide variant (intron variant)	Nephronophthisis 11 +7 more	GConflicting classifications of pathogenicity
Select item 1591175	NM_153704.6(TMEM67):c.2662-4T>C	TMEM67	Single nucleotide variant (intron variant)	Joubert syndrome +7 more	GLikely benign
Select item 1587415	NM_153704.6(TMEM67):c.652-13T>C	TMEM67	Single nucleotide variant (intron variant)	COACH syndrome 1 +7 more	GLikely benign
Select item 1571885	NM_153704.6(TMEM67):c.2440-11T>C	TMEM67	Single nucleotide variant (intron variant)	COACH syndrome 1 +7 more	GLikely benign
Select item 1561793	NM_153704.6(TMEM67):c.1675-10dup	TMEM67	Duplication (intron variant)	COACH syndrome 1 +7 more	GLikely benign
Select item 1546886	NM_153704.6(TMEM67):c.1675-13T>A	TMEM67	Single nucleotide variant (intron variant)	COACH syndrome 1 +7 more	GLikely benign
Select item 1528369	NM_153704.6(TMEM67):c.2765-4A>C	TMEM67	Single nucleotide variant (intron variant)	COACH syndrome 1 +7 more	GLikely benign
Select item 1522076	NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr)	TMEM67 (C736Y +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +8 more	GUncertain significance
Select item 1520085	NM_153704.6(TMEM67):c.2740A>G (p.Met914Val)	TMEM67 (M914V +1 more)	Single nucleotide variant (missense variant +1 more)	COACH syndrome 1 +7 more	GUncertain significance
Select item 1519788	NM_153704.6(TMEM67):c.2314A>G (p.Met772Val)	TMEM67 (M772V +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1518605	NM_153704.6(TMEM67):c.926T>G (p.Val309Gly)	TMEM67 (V228G +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1514728	NM_153704.6(TMEM67):c.1561C>T (p.His521Tyr)	TMEM67 (H440Y +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +8 more	GUncertain significance
Select item 1510289	NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu)	TMEM67 (D50E)	Single nucleotide variant (5 prime UTR variant +2 more)	COACH syndrome 1 +7 more	GUncertain significance
Select item 1497885	NM_153704.6(TMEM67):c.1544T>C (p.Met515Thr)	TMEM67 (M515T +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1497636	NM_153704.6(TMEM67):c.2861G>C (p.Cys954Ser)	TMEM67 (C954S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GUncertain significance

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