ClinVar for MedGen (Select 334114) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240614	NM_001173990.3(TMEM216):c.193_194delinsA (p.Leu65fs)	TMEM216 (L4fs +1 more)	Indel (frameshift variant)	Joubert syndrome 2	GLikely pathogenic
Select item 2679226	NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)	TMEM216 (E38*)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 2	GLikely pathogenic
Select item 2679225	NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)	TMEM216 (F15fs +1 more)	Indel (frameshift variant)	Joubert syndrome 2	GLikely pathogenic
Select item 2679224	NM_001173990.3(TMEM216):c.34+1G>A	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 2	GLikely pathogenic
Select item 2679223	NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT	TMEM216	Indel (splice donor variant)	Joubert syndrome 2	GPathogenic
Select item 2679222	NM_001173990.3(TMEM216):c.229+1G>C	TMEM216	Single nucleotide variant (splice donor variant)	Joubert syndrome 2	GLikely pathogenic
Select item 2679221	NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)	TMEM216 (M101fs +1 more)	Insertion (frameshift variant)	Joubert syndrome 2	GLikely pathogenic
Select item 2679220	NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)	TMEM216 (W29*)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 2	GLikely pathogenic
Select item 1494212	NM_001173990.3(TMEM216):c.229+1G>A	TMEM216	Single nucleotide variant (splice donor variant)	Joubert syndrome 2 +1 more	GLikely pathogenic
Select item 1342223	NM_001173990.3:c.432-11_432-10insA	TMEM216	Insertion	Joubert syndrome 2 +1 more	GBenign
Select item 1176283	NM_001173990.3(TMEM216):c.191del (p.Leu64fs)	TMEM216 (L3fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1073194	NM_001173990.3(TMEM216):c.87G>A (p.Trp29Ter)	TMEM216 (W29*)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +1 more	GPathogenic/Likely pathogenic
Select item 1066361	NM_001173990.3(TMEM216):c.137-2A>G	TMEM216	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis +1 more	GLikely pathogenic
Select item 1041999	NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro)	TMEM216 (S38P +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GUncertain significance
Select item 1039650	NM_001173990.3(TMEM216):c.230-10T>C	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GUncertain significance
Select item 991119	NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=)	TMEM216	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 991118	NM_001173990.3(TMEM216):c.137-7T>C	TMEM216	Single nucleotide variant (intron variant)	Joubert syndrome 2	GUncertain significance
Select item 991117	NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val)	TMEM216 (A9V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 970367	NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr)	TMEM216 (M120T +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 961772	NM_001173990.3(TMEM216):c.230-2A>G	TMEM216	Single nucleotide variant (splice acceptor variant)	Familial aplasia of the vermis +2 more	GLikely pathogenic
Select item 878986	NM_001173990.3(TMEM216):c.*548T>A	TMEM216	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 878935	NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg)	TMEM216 (C128R +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 2 +2 more	GUncertain significance
Select item 878887	NM_001173990.2(TMEM216):c.-86G>A	TMEM216	Single nucleotide variant	Joubert syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 878394	NM_001173990.3(TMEM216):c.*525T>G	TMEM216	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 878393	NM_001173990.3(TMEM216):c.*393C>T	TMEM216	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 878392	NM_001173990.3(TMEM216):c.*377T>C	TMEM216	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 878304	NM_001173990.2(TMEM216):c.-264C>T	TMEM216	Single nucleotide variant	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 878303	NM_001173990.2(TMEM216):c.-285A>G	TMEM216	Single nucleotide variant	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 877371	NM_001173990.3(TMEM216):c.*303C>T	TMEM216	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 877370	NM_001173990.3(TMEM216):c.*190A>G	TMEM216	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 857506	NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp)	TMEM216 (R14W)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 855127	NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)	TMEM216 (R4Q)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 851043	NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln)	TMEM216 (R85Q +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis	GUncertain significance
Select item 704104	NM_001173990.3(TMEM216):c.229+10G>A	TMEM216	Single nucleotide variant (intron variant)	Familial aplasia of the vermis	GLikely benign
Select item 701104	NM_001173990.3(TMEM216):c.324G>A (p.Leu108=)	TMEM216	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 700949	NM_001173990.3(TMEM216):c.123A>C (p.Ile41=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis	GLikely benign
Select item 598600	NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 597583	NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly)	TMEM216 (E38G)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 596974	NM_001173990.3(TMEM216):c.*6A>G	TMEM216	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 591162	NM_001173990.3(TMEM216):c.67del (p.Leu23fs)	TMEM216 (L23fs)	Deletion (frameshift variant +1 more)	Joubert syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 558461	NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG	TMEM216	Indel (splice acceptor variant +1 more)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 558417	NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)	TMEM216 (Y106fs +1 more)	Insertion (frameshift variant)	Meckel syndrome, type 2 +1 more	GLikely pathogenic
Select item 558218	NM_001173990.3(TMEM216):c.137-1G>A	TMEM216	Single nucleotide variant (splice acceptor variant)	Meckel syndrome, type 2 +2 more	GLikely pathogenic
Select item 557532	NM_001173990.3(TMEM216):c.230-9dup	TMEM216	Duplication (intron variant)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 557517	NM_001173990.3(TMEM216):c.1A>G (p.Met1Val)	TMEM216 (M1V)	Single nucleotide variant (missense variant +2 more)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 557516	NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr)	TMEM216 (M1T)	Single nucleotide variant (missense variant +2 more)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 557444	NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs)	TMEM216 (M1fs)	Deletion (frameshift variant +2 more)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 557306	NM_001173990.3(TMEM216):c.432-10delinsAA	TMEM216	Indel (splice acceptor variant +1 more)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 556222	NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)	TMEM216 (M1K)	Single nucleotide variant (missense variant +2 more)	Meckel syndrome, type 2 +2 more	GUncertain significance
Select item 554706	NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)	TMEM216 (Y51* +1 more)	Single nucleotide variant (nonsense)	Meckel syndrome, type 2 +1 more	GLikely pathogenic
Select item 553034	NM_001173990.3(TMEM216):c.338dup (p.Leu114fs)	TMEM216 (L53fs +1 more)	Duplication (frameshift variant)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 552510	NM_001173990.3(TMEM216):c.432-10delinsAC	TMEM216	Indel (splice acceptor variant +1 more)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 551831	NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)	TMEM216 (N55fs)	Deletion (frameshift variant +1 more)	Meckel syndrome, type 2 +1 more	GLikely pathogenic
Select item 551429	NM_001173990.3(TMEM216):c.34+18_34+21del	TMEM216	Microsatellite (splice donor variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 500203	NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys)	TMEM216 (R115C +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 498870	NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)	TMEM216	Single nucleotide variant (synonymous variant +1 more)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 452672	NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr)	TMEM216 (P3T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 407338	NM_001173990.3(TMEM216):c.405G>A (p.Glu135=)	TMEM216	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis	GLikely benign
Select item 376902	NM_001173990.3(TMEM216):c.35-13_36del	TMEM216	Deletion (splice acceptor variant)	Familial aplasia of the vermis +2 more	GLikely pathogenic
Select item 371778	NM_001173990.3(TMEM216):c.35-2A>G	TMEM216	Single nucleotide variant (splice acceptor variant)	Meckel syndrome, type 2 +2 more	GLikely pathogenic
Select item 371763	NM_001173990.3(TMEM216):c.228del (p.Phe76fs)	TMEM216 (F76fs +1 more)	Deletion (frameshift variant)	Meckel syndrome, type 2 +1 more	GLikely pathogenic
Select item 371759	NM_001173990.3(TMEM216):c.222del (p.Phe76fs)	TMEM216 (F76fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 2 +2 more	GLikely pathogenic
Select item 371740	NM_001173990.3(TMEM216):c.34+2T>C	TMEM216	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 2 +2 more	GLikely pathogenic
Select item 371710	NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)	TMEM216 (G16fs +1 more)	Duplication (frameshift variant)	Familial aplasia of the vermis +2 more	GPathogenic/Likely pathogenic
Select item 305090	NM_001173990.3(TMEM216):c.*558G>A	TMEM216	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 2 +2 more	GBenign
Select item 305089	NM_001173990.3(TMEM216):c.*444T>C	TMEM216	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 305088	NM_001173990.3(TMEM216):c.*372C>T	TMEM216	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 305087	NM_001173990.3(TMEM216):c.*335G>A	TMEM216	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 305086	NM_001173990.3(TMEM216):c.*247C>T	TMEM216	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 305085	NM_001173990.3(TMEM216):c.*107G>T	TMEM216	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 305084	NM_001173990.3(TMEM216):c.*93T>C	TMEM216	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 305081	NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)	TMEM216	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 305080	NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)	TMEM216 (M120V +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +4 more	GConflicting classifications of pathogenicity
Select item 305079	NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)	TMEM216 (R115H +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 305078	NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)	TMEM216 (F36I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 305076	NM_001173990.3(TMEM216):c.-24C>T	TMEM216	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 305075	NM_001173990.2(TMEM216):c.-91G>A	TMEM216	Single nucleotide variant	Meckel syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 305074	NM_001173990.2(TMEM216):c.-128A>C	TMEM216	Single nucleotide variant	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 305073	NM_001173990.2(TMEM216):c.-135T>C	TMEM216	Single nucleotide variant	Meckel syndrome, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 305072	NM_001173990.2(TMEM216):c.-242C>T	TMEM216	Single nucleotide variant	Meckel syndrome, type 2 +1 more	GUncertain significance
Select item 289981	NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)	TMEM216 (V47A)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 289040	NM_001173990.3(TMEM216):c.277G>A (p.Val93Met)	TMEM216 (V32M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 282947	NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)	TMEM216	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 257597	NM_001173990.3(TMEM216):c.35-17C>T	TMEM216	Single nucleotide variant (intron variant)	Joubert syndrome 2 +4 more	GBenign/Likely benign
Select item 257595	NM_001173990.3(TMEM216):c.-24C>G	TMEM216	Single nucleotide variant (5 prime UTR variant)	Joubert syndrome 2 +3 more	GBenign/Likely benign
Select item 257594	NM_001173990.3(TMEM216):c.*21A>G	TMEM216	Single nucleotide variant (3 prime UTR variant)	Meckel syndrome, type 2 +3 more	GConflicting classifications of pathogenicity
Select item 217706	NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)	TMEM216	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GConflicting classifications of pathogenicity
Select item 217705	NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	TMEM216 (R12C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 217704	NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	TMEM216 (L133* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 196320	NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)	TMEM216 (V10L +1 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 193189	NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)	TMEM216 (L2P)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 2 +3 more	GConflicting classifications of pathogenicity
Select item 193188	NM_001173990.3(TMEM216):c.-2G>T	TMEM216	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GBenign
Select item 126297	NM_001173990.3(TMEM216):c.432-1G>C	TMEM216 (R147T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
Select item 126296	NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)	TMEM216	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +4 more	GBenign
Select item 56384	NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	TMEM216 (R24* +1 more)	Single nucleotide variant (nonsense)	Joubert syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 198	NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	TMEM216 (R73H +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 197	NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	TMEM216 (R73L +1 more)	Single nucleotide variant (missense variant)	Meckel syndrome, type 2 +5 more	GPathogenic

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Items: 97