C1842577[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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)	Familial aplasia of the vermis +2 more	GLikely pathogenic
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 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 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 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 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 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 3240614	NM_001173990.3(TMEM216):c.193_194delinsA (p.Leu65fs)	TMEM216 (L4fs +1 more)	Indel (frameshift variant)	Joubert syndrome 2	GLikely pathogenic
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 198	NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	TMEM216 (R73H +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 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)	Joubert syndrome 2 +5 more	GPathogenic
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 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 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 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 2679221	NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)	TMEM216 (M101fs +1 more)	Insertion (frameshift variant)	Joubert syndrome 2	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20