ClinVar for MedGen (Select 1769861) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1691287	NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)	TMEM67 (F160fs +1 more)	Deletion (frameshift variant +1 more)	Nephronophthisis 11 +5 more	GPathogenic/Likely pathogenic
Select item 1653180	NM_153704.6(TMEM67):c.2439+17C>T	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +7 more	GLikely benign
Select item 1651748	NM_153704.6(TMEM67):c.780C>T (p.Tyr260=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +7 more	GLikely benign
Select item 1646977	NM_153704.6(TMEM67):c.312+13T>C	TMEM67	Single nucleotide variant (intron variant)	Meckel syndrome, type 3 +7 more	GLikely benign
Select item 1636115	NM_153704.6(TMEM67):c.1401A>G (p.Gln467=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 14 +7 more	GLikely benign
Select item 1629434	NM_153704.6(TMEM67):c.577-6A>G	TMEM67	Single nucleotide variant (intron variant)	COACH syndrome 1 +9 more	GLikely benign
Select item 1616728	NM_153704.6(TMEM67):c.979-16C>T	TMEM67	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 1591175	NM_153704.6(TMEM67):c.2662-4T>C	TMEM67	Single nucleotide variant (intron variant)	RHYNS syndrome +7 more	GLikely benign
Select item 1587415	NM_153704.6(TMEM67):c.652-13T>C	TMEM67	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 14 +7 more	GLikely benign
Select item 1571885	NM_153704.6(TMEM67):c.2440-11T>C	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +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)	Meckel-Gruber syndrome +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)	COACH syndrome 1 +7 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)	Nephronophthisis 11 +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)	Familial aplasia of the vermis +7 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)	Nephronophthisis 11 +7 more	GUncertain significance
Select item 1486364	NM_153704.6(TMEM67):c.283A>G (p.Ile95Val)	TMEM67 (I95V)	Single nucleotide variant (missense variant +2 more)	Meckel syndrome, type 3 +7 more	GUncertain significance
Select item 1448030	NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly)	TMEM67 (A160G +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1447605	NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys)	TMEM67 (R894C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1445761	NM_153704.6(TMEM67):c.869+17T>A	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +7 more	GConflicting classifications of pathogenicity
Select item 1444216	NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys)	TMEM67 (N797K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +8 more	GUncertain significance
Select item 1438799	NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly)	TMEM67 (E109G)	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1436831	NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val)	TMEM67 (L698V +1 more)	Single nucleotide variant (missense variant +1 more)	RHYNS syndrome +7 more	GUncertain significance
Select item 1436512	NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys)	TMEM67 (Y133C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1424253	NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe)	TMEM67 (S985F +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +8 more	GUncertain significance
Select item 1421324	NM_153704.6(TMEM67):c.2162C>G (p.Pro721Arg)	TMEM67 (P640R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 1417522	NM_153704.6(TMEM67):c.1674+14A>T	TMEM67	Single nucleotide variant (intron variant)	Familial aplasia of the vermis +7 more	GConflicting classifications of pathogenicity
Select item 1416073	NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe)	TMEM67 (L30F)	Single nucleotide variant (missense variant +2 more)	not provided +9 more	GUncertain significance
Select item 1407135	NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val)	TMEM67 (I694V +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 14 +9 more	GUncertain significance
Select item 1403148	NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu)	TMEM67 (F25L)	Single nucleotide variant (missense variant +2 more)	COACH syndrome 1 +7 more	GUncertain significance
Select item 1398637	NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln)	TMEM67 (K250Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 1391597	NM_153704.6(TMEM67):c.8C>T (p.Thr3Met)	TMEM67 (T3M)	Single nucleotide variant (missense variant +2 more)	Meckel syndrome, type 3 +7 more	GUncertain significance
Select item 1389526	NM_153704.6(TMEM67):c.2100+3A>G	TMEM67	Single nucleotide variant (intron variant)	Joubert syndrome 6 +7 more	GUncertain significance
Select item 1378229	NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg)	TMEM67 (Q231R +1 more)	Single nucleotide variant (missense variant +1 more)	COACH syndrome 1 +7 more	GUncertain significance
Select item 1354736	NM_153704.6(TMEM67):c.1823G>A (p.Arg608His)	TMEM67 (R527H +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +8 more	GUncertain significance
Select item 1349780	NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg)	TMEM67 (P392R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +7 more	GConflicting classifications of pathogenicity
Select item 1349069	NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln)	TMEM67 (R643Q +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +7 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 1325829	NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)	TMEM67 (R711G +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +7 more	GConflicting classifications of pathogenicity
Select item 1083447	NM_153704.6(TMEM67):c.882T>C (p.Leu294=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 1072098	NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter)	TMEM67 (R578* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 6 +9 more	GPathogenic/Likely pathogenic
Select item 1050591	NM_153704.6(TMEM67):c.31A>G (p.Met11Val)	TMEM67 (M11V)	Single nucleotide variant (missense variant +2 more)	Meckel syndrome, type 3 +8 more	GUncertain significance
Select item 1039817	NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln)	TMEM67 (P46Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 1032671	NM_015272.5(RPGRIP1L):c.3220+17A>C	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1032609	NM_001378615.1(CC2D2A):c.4314+12C>T	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1032608	NM_001378615.1(CC2D2A):c.3015-9A>C	CC2D2A	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1032510	NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro)	TMEM67 (A227P +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +7 more	GUncertain significance
Select item 1029109	NM_015272.5(RPGRIP1L):c.1505A>T (p.His502Leu)	RPGRIP1L (H502L)	Single nucleotide variant (missense variant)	COACH syndrome 1	GUncertain significance
Select item 1029108	NM_015272.5(RPGRIP1L):c.1499C>A (p.Ala500Glu)	RPGRIP1L (A500E)	Single nucleotide variant (missense variant)	COACH syndrome 1	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 1016183	NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val)	TMEM67 (A732V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +7 more	GUncertain significance
Select item 1003200	NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr)	TMEM67 (D418Y +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 14 +8 more	GUncertain significance
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 928828	NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr)	TMEM67 (S15T)	Single nucleotide variant (missense variant +2 more)	COACH syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 912174	NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile)	TMEM67 (V449I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +7 more	GUncertain significance
Select item 859620	NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu)	TMEM67 (F29L)	Single nucleotide variant (intron variant +2 more)	RHYNS syndrome +7 more	GUncertain significance
Select item 854908	NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr)	TMEM67 (A627T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +7 more	GConflicting classifications of pathogenicity
Select item 848273	NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)	RPGRIP1L (P1141fs +3 more)	Microsatellite (frameshift variant)	Joubert syndrome and related disorders +3 more	GPathogenic/Likely pathogenic
Select item 813616	NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg)	RPGRIP1L (Q1005R +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +3 more	GUncertain significance
Select item 699050	NM_153704.6(TMEM67):c.192T>C (p.Pro64=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +7 more	GLikely benign
Select item 696787	NM_153704.6(TMEM67):c.2440-6T>C	TMEM67	Single nucleotide variant (intron variant)	TMEM67-related condition +8 more	GBenign/Likely benign
Select item 680284	NM_153704.6(TMEM67):c.312+14A>G	TMEM67	Single nucleotide variant (intron variant)	COACH syndrome 1 +8 more	GBenign/Likely benign
Select item 664064	NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr)	TMEM67 (I665T +1 more)	Single nucleotide variant (missense variant +1 more)	COACH syndrome 1 +7 more	GUncertain significance
Select item 661970	NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)	TMEM67 (R379T +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +9 more	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 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 522909	NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter)	CC2D2A (E1495* +1 more)	Single nucleotide variant (nonsense)	COACH syndrome 1	GPathogenic
Select item 506012	NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)	TMEM67 (R172* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +11 more	GPathogenic/Likely pathogenic
Select item 497982	NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter)	TMEM67 (E723* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	COACH syndrome 1 +6 more	GPathogenic
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 497917	NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)	TMEM67 (T589I +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +8 more	GUncertain significance
Select item 461772	NM_153704.6(TMEM67):c.638G>A (p.Arg213His)	TMEM67 (R213H +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +8 more	GConflicting classifications of pathogenicity
Select item 461759	NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile)	RPGRIP1L (T256I)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +3 more	GUncertain significance
Select item 449519	NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)	TMEM67 (G137A +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +9 more	GUncertain significance
Select item 431704	NM_153704.6(TMEM67):c.439C>T (p.Gln147Ter)	TMEM67 (Q147* +1 more)	Single nucleotide variant (nonsense +1 more)	COACH syndrome 1	GPathogenic
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 423510	NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)	RPGRIP1L (L554I)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +6 more	GConflicting classifications of pathogenicity
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 411582	NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu)	TMEM67 (G75E)	Single nucleotide variant (missense variant +2 more)	Meckel-Gruber syndrome +8 more	GUncertain significance
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 388118	NM_153704.6(TMEM67):c.1288+15C>T	TMEM67	Single nucleotide variant (intron variant)	COACH syndrome 1 +8 more	GLikely benign
Select item 363923	NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)	TMEM67 (V767I +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 14 +8 more	GUncertain significance
Select item 363916	NM_153704.6(TMEM67):c.29C>T (p.Ala10Val)	TMEM67 (A10V)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 14 +7 more	GUncertain significance
Select item 319668	NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)	RPGRIP1L (R84Q)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 289611	NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)	RPGRIP1L (E604K)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5 +8 more	GConflicting classifications of pathogenicity
Select item 288560	NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)	CC2D2A (R982H +1 more)	Single nucleotide variant (missense variant)	COACH syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 288557	NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)	CC2D2A (I1193V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 287246	NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln)	CC2D2A (R828Q +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 282355	NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)	TMEM67 (S288* +1 more)	Single nucleotide variant (nonsense +1 more)	RHYNS syndrome +8 more	GPathogenic/Likely pathogenic
Select item 262754	NM_153704.6(TMEM67):c.507-19T>C	TMEM67	Single nucleotide variant (intron variant)	not provided +9 more	GBenign/Likely benign
Select item 262752	NM_153704.6(TMEM67):c.506+18G>T	TMEM67	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 14 +9 more	GBenign/Likely benign
Select item 262751	NM_153704.6(TMEM67):c.313-13dup	TMEM67	Duplication (intron variant)	not specified +7 more	GLikely benign
Select item 238282	NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)	CC2D2A (R1618C +1 more)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +5 more	GUncertain significance
Select item 238276	NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)	CC2D2A (G776R +1 more)	Single nucleotide variant (missense variant)	CC2D2A-related condition +7 more	GConflicting classifications of pathogenicity
Select item 235636	NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)	RPGRIP1L (R1156C +3 more)	Single nucleotide variant (missense variant)	COACH syndrome 3 +9 more	GUncertain significance
Select item 225493	NM_153704.6(TMEM67):c.1353del (p.Glu452fs)	TMEM67 (E371fs +1 more)	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis +4 more	GPathogenic/Likely pathogenic
Select item 217726	NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)	TMEM67 (T291K +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +8 more	GPathogenic/Likely pathogenic

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