ClinVar for MedGen (Select 342805) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628355	NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)	TMEM67 (R172L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 2628354	NM_153704.6(TMEM67):c.1021G>A (p.Gly341Arg)	TMEM67 (G260R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GUncertain significance
Select item 2627377	NM_153704.6(TMEM67):c.[1634G>A;2241G>A]	TMEM67 (G545E +1 more)	Single nucleotide variant (missense variant +2 more)	Joubert syndrome 6	GPathogenic
Select item 2582231	NM_153704.6(TMEM67):c.2323-2A>G	TMEM67	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 6	GPathogenic
Select item 2581499	NC_000008.10:g.(94807736_94808128)_(94809699_94811845)del	TMEM67	Deletion	Joubert syndrome 6	GLikely pathogenic
Select item 2581157	NM_153704.6(TMEM67):c.1771A>G (p.Lys591Glu)	TMEM67 (K510E +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GLikely pathogenic
Select item 2577197	NM_153704.6(TMEM67):c.2153_2154del (p.Arg718fs)	TMEM67 (R637fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 6	GPathogenic
Select item 2572597	NM_153704.6(TMEM67):c.2756T>A (p.Phe919Tyr)	TMEM67 (F838Y +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GUncertain significance
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	GUncertain significance
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 1683751	NM_153704.6(TMEM67):c.345T>G (p.Ile115Met)	TMEM67 (I115M)	Single nucleotide variant (5 prime UTR variant +2 more)	Joubert syndrome 6	GUncertain significance
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 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 1065634	NM_153704.6(TMEM67):c.230C>A (p.Ser77Ter)	TMEM67 (S77*)	Single nucleotide variant (nonsense +2 more)	Joubert syndrome 6	GPathogenic
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 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 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 998021	NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro)	TMEM67 (S159P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 982965	NM_153704.6(TMEM67):c.2557-3T>G	TMEM67	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 917961	NM_153704.6(TMEM67):c.406G>C (p.Val136Leu)	TMEM67 (R10T +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GLikely pathogenic
Select item 914980	NM_153704.6(TMEM67):c.*25C>T	TMEM67	Single nucleotide variant (3 prime UTR variant +1 more)	Meckel syndrome, type 3 +2 more	GUncertain significance
Select item 914509	NM_153704.6(TMEM67):c.*822G>A	TMEM67	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 914508	NM_153704.6(TMEM67):c.*761T>G	TMEM67	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 914507	NM_153704.6(TMEM67):c.*690T>A	TMEM67	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 913810	NM_153704.5(TMEM67):c.*1676C>T	TMEM67	Single nucleotide variant (genic downstream transcript variant)	Meckel syndrome, type 3 +2 more	GUncertain significance
Select item 913429	NM_153704.6(TMEM67):c.*1424C>A	TMEM67	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 913395	NM_153704.6(TMEM67):c.*580A>G	TMEM67	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 3 +2 more	GUncertain significance
Select item 913394	NM_153704.6(TMEM67):c.*512T>C	TMEM67	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 913346	NM_153704.6(TMEM67):c.2907+9T>C	TMEM67	Single nucleotide variant (intron variant)	Joubert syndrome 6 +4 more	GConflicting classifications of pathogenicity
Select item 913024	NM_153704.6(TMEM67):c.*279T>C	TMEM67	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 912309	NM_153704.6(TMEM67):c.*1099A>G	TMEM67	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 11 +2 more	GUncertain significance
Select item 912245	NM_153704.6(TMEM67):c.2278G>C (p.Glu760Gln)	TMEM67 (E679Q +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 912244	NM_153704.6(TMEM67):c.2242-7G>A	TMEM67	Single nucleotide variant (intron variant)	Meckel syndrome, type 3 +2 more	GUncertain significance
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 912110	NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile)	TMEM67 (T99I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 911073	NM_153704.6(TMEM67):c.2764+10A>T	TMEM67	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GConflicting classifications of pathogenicity
Select item 910884	NM_153704.6(TMEM67):c.282T>C (p.Ala94=)	TMEM67	Single nucleotide variant (synonymous variant +2 more)	Joubert syndrome 6 +2 more	GUncertain significance
Select item 910124	NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln)	TMEM67 (R578Q +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related condition +5 more	GUncertain significance
Select item 909996	NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser)	TMEM67 (N90S)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 11 +4 more	GUncertain significance
Select item 908240	NM_153704.6(TMEM67):c.2291G>A (p.Arg764Gln)	TMEM67 (R764Q +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +2 more	GUncertain significance
Select item 908168	NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg)	TMEM67 (K513R +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +4 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 813947	NM_153704.6(TMEM67):c.628T>C (p.Ser210Pro)	TMEM67 (S129P +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	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 692261	NM_153704.6(TMEM67):c.313-3T>G	TMEM67	Single nucleotide variant (intron variant)	Joubert syndrome 6	GLikely pathogenic
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 635320	NM_153704.6(TMEM67):c.1598G>A (p.Gly533Glu)	TMEM67 (G452E +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GUncertain significance
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 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 497917	NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)	TMEM67 (T589I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6 +8 more	GUncertain significance
Select item 495340	NM_153704.6(TMEM67):c.2779T>C (p.Phe927Leu)	TMEM67 (F846L +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GUncertain significance
Select item 495339	NM_153704.6(TMEM67):c.1421T>C (p.Leu474Pro)	TMEM67 (L393P +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 6	GUncertain significance
Select item 495328	NM_153704.6(TMEM67):c.1575+5G>A	TMEM67	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
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

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